AiPD: Autoinhibited Protein Database

P37173

Gene name	TGFBR2
Protein name	TGF-beta receptor type-2
Names	TGFR-2, TGF-beta type II receptor, Transforming growth factor-beta receptor type II, TGF-beta receptor type II, TbetaR-II
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7048
EC number	2.7.11.30: Protein-serine/threonine kinases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

164-269 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

164-269 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

396-423 (Activation loop from InterPro)

Target domain	244-544 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

16 structures for P37173

Entry ID	Method	Resolution	Chain	Position	Source
1KTZ	X-ray	215 A	B	38-159	PDB
1M9Z	X-ray	105 A	A	49-159	PDB
1PLO	NMR	-	A	38-159	PDB
2PJY	X-ray	300 A	B	42-149	PDB
3KFD	X-ray	300 A	E/F/G/H	38-153	PDB
4P7U	X-ray	150 A	A	49-159	PDB
4XJJ	X-ray	140 A	A	50-159	PDB
5E8V	X-ray	169 A	A	237-549	PDB
5E8Y	X-ray	205 A	A	237-549	PDB
5E91	X-ray	242 A	A	237-549	PDB
5E92	X-ray	208 A	A	237-549	PDB
5QIN	X-ray	157 A	A	237-549	PDB
5TX4	X-ray	188 A	A	38-153	PDB
5TY4	EM	290 A	A	47-149	PDB
7DV6	X-ray	239 A	A	237-549	PDB
AF-P37173-F1	Predicted				AlphaFoldDB

572 variants for P37173

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs933114782 RCV001179694 RCV002483977	1	M>V	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000234528 RCV001526891 CA049102 RCV002259326 rs565502802	2	G>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001182181 rs780267559 CA050077	3	R>Q	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1559443652 RCV000686255	9	L>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1182907194 CA351830539 RCV000774425	15	V>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1182907194 RCV001183678	15	V>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001181441 CA351830566 rs763085648	19	R>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1697933766 RCV001179663	20	I>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA049553 RCV001561186 rs767407566 RCV001186676	22	S>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs764160271 CA049857 RCV002505641 RCV001064639	26	P>S	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001184599 rs984098699	35	D>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001180518 rs984098699 CA71499877	35	D>N	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs17025864 RCV001001059 RCV000242516 VAR_020510 CA045593 RCV000828695	36	M>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA045863 rs146277116 RCV002478859 RCV000780774 RCV000227430	39	T>N	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000726916 CA045832 rs780280433 RCV001182793	39	T>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351806358 rs1305653433 RCV001178724	42	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001185887 rs1553627148	46	K>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1698701049 RCV001036839	50	L>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1559456531 CA351806411 RCV000699100	51	C>R	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1559456557 RCV000688192 CA351806469	59	S>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351806500 rs1432089303 RCV001182544	63	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000459768 rs1060501985 CA16611309	68	M>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA16611209 rs764941621 RCV000472675 RCV002489048	72	S>N	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1559458806 RCV000773917 CA351806713	91	N>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001179241 rs766473954 CA047882 COSM3940481	93	E>K	Variant assessed as Somatic; 0.0 impact. oesophagus Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA351806742 RCV001347965 rs1242885838	95	I>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs777472799 RCV001296250	102	H>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV002223764 RCV000030550 rs193922665 CA020765 RCV001179055	104	P>S	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001179509 rs1698856374	107	P>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs778838598 RCV001183086 CA047987	109	H>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002491568 rs771551560 RCV001190092 CA048033	114	E>Q	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA048054 RCV001185125 rs540920930	118	S>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000380176 RCV000766907 rs768385200 RCV000323333 RCV000198358 RCV000253449 CA048064	123	M>L	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001187433 rs776374040	124	K>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001702809 RCV001001460 rs79375991 RCV000559144 RCV000680445	128	K>missing	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs79375991 RCV002487827 RCV000819936	129	P>missing	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001308328 CA048140 rs770216059	129	P>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1698859109 RCV001175807	130	G>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs146497045 CA048207 RCV000654796	132	T>A	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA351806995 RCV001191221 rs1402755105	132	T>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000471319 RCV000509415 CA320296 rs863223838 RCV000195915 RCV002478686	138	C>G	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Congenital aneurysm of ascending aorta [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003224428 RCV000768108 CA351807036 rs1559458957	138	C>Y	Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351807122 rs1346274891 RCV000537553	150	S>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002279701 CA048331 RCV001002414 rs757051948 RCV001052704	151	E>V	Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000200587 RCV002517188 CA325169 rs778675253	152	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1699338437 RCV001180521	154	N>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV002225455 RCV000154587 RCV000777996 CA020772 rs727504406	155	T>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001181478 rs1699338540	156	S>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1203996192 RCV001184017 CA351807182	157	N>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10616074 RCV000335327 rs886058303 RCV000405237 RCV000295388	158	P>S	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1699338750 RCV001179470	159	D>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001176709 rs770804409 CA049087	166	Q>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs779052721 CA049119 RCV000476748	167	V>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs759362407 CA049134 RCV001184162 RCV002068375	169	G>R	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1699339733 RCV001182160	169	G>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000547310 RCV001578255 CA049148 rs767581059	171	S>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553630079 RCV000521506 RCV002304212 CA351807311	178	V>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1371905176 CA351807346 RCV001182662	184	I>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1371905176 RCV001176862	184	I>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs368346624 RCV000466091 CA049238 RCV000481213	186	F>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001269947 rs780542125 CA049279 VAR_076167 RCV001180574 RCV000765720 RCV000455175 RCV001149562	190	R>H	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000125486 RCV000313129 RCV000228364 VAR_017606 RCV000352880 RCV000589501 RCV002498604 CA020776 rs56105708	191	V>I	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs748437880 CA049340 RCV001176584	193	R>Q	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs61762550 CA049333 RCV000867562 RCV002227094	193	R>W	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351807448 RCV001306055 rs1431838247	199	S>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001186987 rs1699342734	202	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs773431795 RCV001224499 CA049378	204	G>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000037738 CA020780 RCV000557588 rs150022335 RCV000766909	206	T>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001177654 rs371209879	207	R>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs371209879 RCV001090472 RCV002493409 RCV000772797 CA049422 RCV002265877	207	R>Q	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001178064 rs775640617 CA049408	207	R>W	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1288771489 CA351807509 RCV001577216 RCV001186790	209	L>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1699343672 RCV001181837	210	M>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001186446 rs1699343778	212	F>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA049482 RCV001179660 rs764821003	214	E>K	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA049515 RCV000654786 rs758827786	215	H>Q	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001183598 rs1252128858 CA351807555	215	H>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1699344317 RCV001189041	216	C>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs149141477 RCV000242279 CA049532 RCV000660320 RCV000983821	217	A>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001755913 RCV000536041 rs1553630112 CA351807588	220	L>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA049609 rs748195637 RCV001212101	224	R>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA049628 rs112465572 RCV000773801	224	R>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000817536 CA351807618 rs1575157609	225	S>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1559466786 CA351807642 RCV000770346	228	S>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001179173 RCV001375501 rs150116445 CA049688 RCV001551469	230	T>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003142101 RCV001176313 CA049770 rs761231369 VAR_076168	247	D>V	Familial thoracic aortic aneurysm and aortic dissection LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1699346690 RCV001068654	253	G>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000525396 rs863223856 RCV000198902 CA323430 RCV002478687	254	R>C	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA049848 rs751948498 RCV001178414	254	R>H	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000208008 CA351696 rs869025536	258	V>D	Loeys-Dietz syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA049882 RCV001180824 rs767919854	259	Y>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA351807886 RCV001176244 rs1412125264	265	Q>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001178387 RCV002497624 rs139078984 CA049919	268	S>L	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001186988 rs1699347991	270	Q>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001054062 rs1699348482	276	V>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000244146 rs886038794 COSM1593590 CA10587565 RCV002251451	277	K>N	Variant assessed as Somatic; impact. endometrium Loeys-Dietz syndrome 2 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1559466871 RCV000698826 CA351807967	278	I>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002570632 CA049980 rs746824357 RCV001258149	279	F>L	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351807989 rs1210616464 RCV001181483	281	Y>C	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
RCV001179812 rs1210616464	281	Y>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001180232 rs374708133 CA049994	284	Y>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV002514932 rs727503472 RCV000152004 CA020788	287	W>R	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1575157782 RCV000796537 CA351808053	290	E>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001296651 rs1699349663	291	K>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA351808065 RCV001223849 rs1254102909	292	D>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA050066 RCV001180059 rs751587466	298	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000590283 CA325027 rs863223857 RCV000200455 RCV000251947	301	H>R	Loeys-Dietz syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs773932892 CA050124 RCV000799279	303	N>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553630171 RCV000519818 CA351808156 RCV001857962 RCV000765721	305	L>F	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001220673 rs1553630174 RCV001732076	305	L>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1553630174 CA351808159 RCV001538284 RCV000540262	305	L>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_066723	306	Q>HE	LDS2 [UniProt]	Yes	UniProt
VAR_022351 rs28934568 CA020791 RCV000013329	308	L>P	Loeys-Dietz syndrome 2 LDS2; has a negative effect on TGF-beta signaling [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002485504 rs1553630181 CA351808185 RCV000660321	310	A>T	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200361387 RCV001585942 RCV001046064 CA050258	313	R>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000688154 RCV000765722 RCV000998013 rs200361387 CA050250	313	R>Q	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001799741 rs55751315 CA71528357 RCV001190463 RCV001374779	313	R>W	Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000626289 RCV000290470 CA020555 VAR_008156 RCV001310481 RCV000344037 RCV000247266 RCV001094839 RCV000013325 rs34833812 RCV002276544	315	T>M	Loeys-Dietz syndrome Ehlers-Danlos syndrome Familial colorectal cancer Familial thoracic aortic aneurysm and aortic dissection Colorectal cancer, hereditary nonpolyposis, type 6 (hnpcc6) Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 Marfan syndrome HNPCC6 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754785934 RCV001184396 CA050632	318	G>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV000660322 CA351808259 rs1553630191	321	Y>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001773689 rs1699353079 RCV001345408	323	L>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001296215 rs781018006 CA050696 RCV001547011 RCV002487107 RCV000238729	323	L>V	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_076169	325	T>P	LDS2 [UniProt]	Yes	UniProt
RCV000864105 rs148665451 RCV000987136 CA020563 RCV000148892 RCV001704074	329	A>T	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001177962 rs1699353812	333	L>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1699354101 RCV001329671	334	Q>H	Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000546745 CA351808352 rs104893812	336	Y>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001180981 rs1699354286	336	Y>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA020575 RCV000013332 rs104893812 VAR_022352	336	Y>N	Loeys-Dietz syndrome 2 LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA71528567 RCV001532479 rs752866783 RCV001267474 RCV001880147	338	T>M	Familial thoracic aortic aneurysm and aortic dissection Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA323392 rs727503473 RCV000198865 RCV001804933	339	R>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000152005 RCV000808510 rs727503473 RCV002245982 CA020579 RCV003137652	339	R>P	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001177559 rs727503473 CA045405	339	R>Q	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000415648 CA045395 RCV000781901 RCV000765723 RCV000415679 RCV001310482 RCV000809777 rs761991787	339	R>W	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Lynch syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs758614833 CA045437 RCV001062603	343	S>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1699355189 RCV001190783	347	L>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs144701411 RCV000315631 RCV000263258 RCV000354050 CA045456	348	R>C	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1593587 CA045468 RCV000809072 rs369450067 RCV000498047	348	R>H	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs869025537 RCV002399772 CA351866 RCV000208228	351	G>D	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351808443 rs1553630221 RCV000624764	351	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000557035 CA351808459 rs1553630235	353	S>F	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001851822 VAR_022353 CA020590 RCV001253567 RCV000013333 RCV001193761 rs104893813	355	A>P	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000426608 CA16604494 RCV001368997 RCV002289581 rs104893813	355	A>T	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA322326 RCV001183813 rs199660234 RCV000197867	356	R>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA020594 RCV000805236 rs727504292 RCV000154307 RCV000624184	356	R>P	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001547687 CA045577 rs727504292 RCV002259381 RCV001178138	356	R>Q	Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs199660234 RCV000489285 RCV001180612 CA045560	356	R>W	Variant assessed as Somatic; 4.771e-05 impact. Familial thoracic aortic aneurysm and aortic dissection [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_076170	357	G>R	LDS2 [UniProt]	Yes	UniProt
CA020598 VAR_022354 RCV000013334 rs104893814	357	G>W	Loeys-Dietz syndrome 2 LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001192266 rs189119533	360	H>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs777332888 CA045643 RCV001178602	366	T>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA020605 RCV000030541 RCV000251845 RCV000756779 RCV000152008 RCV000680612 VAR_041416 RCV002277108 rs35719192 RCV000327596	373	M>I	Connective tissue disorder Loeys-Dietz syndrome Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1699357750 RCV001176454	373	M>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001347717 CA16604508 RCV000424003 rs1057524399	374	P>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001060468 rs755967723	376	V>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000765724 CA045758 rs755967723 RCV000457732 RCV001591087	376	V>M	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553630274 CA351808600 RCV000654794 VAR_066724	377	H>R	Familial thoracic aortic aneurysm and aortic dissection LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002546347 RCV001329672 rs1575158079 RCV000788511 CA351808610 RCV002246310	378	R>S	Malignant tumor of esophagus Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinVar dbSNP ClinGen Ensembl
rs1553630282 RCV000550384	379	D>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1699358560 RCV001071283	381	K>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV002510401 CA020613 RCV000589903 rs193922661 RCV000654811	384	N>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001753434 RCV001000796 CA020609 RCV000030542 RCV000811071 rs193922660 COSM1670024	384	N>S	Loeys-Dietz syndrome ovary Familial thoracic aortic aneurysm and aortic dissection [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV002466481 CA045783 RCV000822694 RCV000250474 rs137908708 RCV002503959	385	I>V	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA351808658 RCV001856230 RCV000788915 rs1575158103	386	L>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000030544 RCV000414949 RCV000152009 RCV001703428 CA020619 RCV000249454 RCV002277109 rs35766612	387	V>L	Loeys-Dietz syndrome Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000345619 RCV001094865 RCV000148893 RCV002277125 RCV003224121 RCV000288248 RCV001703884 RCV000768109 CA020617 rs35766612 RCV000509502 VAR_022355 RCV000249404 RCV000037728	387	V>M	Loeys-Dietz syndrome Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Congenital aneurysm of ascending aorta Marfan syndrome a breast tumor [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000654810 RCV002510401 rs193922662 RCV000586639 CA020623	388	K>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1049576348 CA71528854 RCV001180899	389	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000253481 CA10587569 rs886039106	393	C>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351808708 rs1553630289 RCV000556671	394	C>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000253663 rs863223845 CA10587567	397	D>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA322774 rs863223845 RCV000807163	397	D>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001182542 rs1699359959	398	F>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1699359959 RCV001296248	398	F>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1575158141 RCV001571560 CA351808754 RCV000810644	401	S>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001770219 RCV001182489 RCV000254401 CA10587572 RCV000765725 rs886038960	403	R>C	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000397892 RCV000198738 RCV000338480 RCV002500607 CA045917 RCV000299880 rs143095746	403	R>H	Loeys-Dietz syndrome Variant assessed as Somatic; 0.0 impact. Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Marfan syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001186815 rs1699360600	405	D>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000197266 CA045946 RCV000208444 rs748480163	406	P>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000699428 rs1559467311 CA351808784	407	T>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA045964 RCV001070194 rs770352403	408	L>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001189342 rs1699360883	409	S>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1699361098 RCV001170897	409	S>F	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001212785 rs1699361055	409	S>P	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs1699361148 RCV001187708	412	D>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA351808821 rs1559467328 RCV000680125	413	L>Q	Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1060501983 RCV001177233	416	S>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000464518 rs1060501983 CA16611396	416	S>G	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA322630 RCV002408874 rs863223847 RCV000198137	419	V>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351808880 rs1553630426 RCV000550146	420	G>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000234122 rs878854610 CA10582147	424	Y>C	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV002533798 rs1559467821 CA351808899 RCV000756781	424	Y>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1699391960 RCV001338135	425	M>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000694569 RCV001260329 rs104893817 CA351808905	425	M>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351808907 rs1553630438 RCV000654801	425	M>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001325332 CA020640 rs104893817 RCV000013342	425	M>V	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs730880224 RCV000157518 CA020644	426	A>V	Loeys-Dietz syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104893818 RCV000013343 CA020649	427	P>L	Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1699392675 RCV001063695	433	R>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA351808962 rs1575158954 RCV000820940	434	M>T	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_028063 RCV001179356 RCV002483974 CA046294 rs1050833	439	V>A	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1699393061 RCV001228616	440	E>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001327183 rs1699393106	441	S>Y	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000687203 RCV000243893 CA10587571 rs886038936	445	T>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10588355 RCV002245988 RCV000692078 VAR_066725 rs886039551 COSM1593641 RCV000624602 RCV000255277	446	D>N	pancreas Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. endometrium Loeys-Dietz syndrome 2 Loeys-Dietz syndrome 1 LDS2 [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1575158992 RCV002307620 RCV000804717 CA351809051	447	V>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104893807 CA16611314 RCV000469243	449	S>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104893807 CA020657 VAR_022358 RCV000013330	449	S>F	Loeys-Dietz syndrome 2 LDS2; has a negative effect on TGF-beta signaling [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001863104 RCV001196257 rs1699393884	452	L>P	Malignant tumor of esophagus Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001183422 rs1218684641 CA351809121	457	M>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_066726	457	M>K	LDS2 [UniProt]	Yes	UniProt
rs1699394098 RCV001192000	458	T>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000654788 RCV000013339 CA020661 VAR_029760 RCV000199227 rs104893811 RCV000252297	460	R>C	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 LDS2 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000702388 VAR_029761 RCV000013340 RCV000196002 CA020664 rs104893816	460	R>H	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Variant assessed as Somatic; 4.62e-05 impact. LDS2 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV000654802 rs104893816 CA351809138 COSM3780876	460	R>L	pancreas Familial thoracic aortic aneurysm and aortic dissection [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1553630457 RCV000499370 CA351809141	461	C>R	Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002283457 rs587782979 RCV000143955 CA020670 RCV002515939	461	C>Y	Loeys-Dietz syndrome Loeys-Dietz syndrome 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1321865816 RCV001189836 CA351809187	466	E>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs760797386 RCV001035388	470	Y>C	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000197170 CA321611 COSM3392338 RCV002310796 rs863224935	470	Y>D	pancreas Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000822704 RCV002223956 CA351809210 rs863224935	470	Y>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001184866 CA351809258 rs1182402824	477	K>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA351809268 RCV000548667 rs1553631704 RCV002506374	479	R>Q	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1559472349 RCV000770349	484	V>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001149682 RCV000687720 rs767120937 CA71543652	487	M>L	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000590654 RCV001860134 rs754176932 CA351809351 RCV001195914	491	V>M	Malignant tumor of esophagus Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000253575 RCV000195964 RCV000763512 CA020690 COSM3392340 RCV000013344 rs104893819 RCV000157519	495	R>*	Loeys-Dietz syndrome pancreas Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
RCV001191889 CA351809379 rs1305853447	495	R>Q	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA323609 RCV000199072 RCV000244033 RCV000680613 rs863223852 RCV001449740 COSM2983538 RCV000490801	497	R>*	Connective tissue disorder Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection large_intestine Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000552840 CA351809392 rs1553631720	498	P>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001352548 rs1699661646	498	P>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs397516840 CA020693 RCV000037735	499	E>*	Loeys-Dietz syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001178776 rs772201128 CA046740	503	F>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA351809437 RCV000856739 rs1575165272 RCV002538885	504	W>*	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1575165264 CA351809432 RCV000811559	504	W>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001185368 CA046747 rs780087626	506	N>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA351809476 RCV000819301 rs1575166620	509	G>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA320238 rs863223853 RCV001374782 RCV000195860 RCV000801577 VAR_066727	509	G>V	Familial thoracic aortic aneurysm and aortic dissection Isolated thoracic aortic aneurysm LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs878854611 RCV000227819	510	I>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
VAR_066728	510	I>F	LDS2 [UniProt]	Yes	UniProt
VAR_066729	510	I>S	LDS2 [UniProt]	Yes	UniProt
RCV000456592 CA16611191 rs1060501984	511	Q>*	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1575166637 RCV000797921	513	V>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV000030548 rs193922664 VAR_066730 CA020708	514	C>R	Loeys-Dietz syndrome LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000217150 rs876658120	516	T>missing	Marfan syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000469702 rs149847376 RCV002480399 CA047010	516	T>M	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA322276 RCV000197820 RCV002399733 rs370708687 RCV000660593	516	T>S	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP
RCV000774494 rs1559473413 CA351809529	517	L>M	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000699504 RCV000656212 rs1553631968 CA351809564 COSM1645168	521	W>*	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Wolff-Parkinson-White pattern breast [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1575166666 RCV002249611 CA351809559 VAR_066731 RCV001000995 RCV002549148	521	W>R	Familial thoracic aortic aneurysm and aortic dissection Malignant tumor of esophagus LDS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000473289 CA16611213 rs886038768	522	D>A	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000198083 CA322561 RCV000704530 rs863223854	522	D>N	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs727504421 RCV000987137 RCV000157520 RCV000225734 RCV000995668 RCV001042957 CA020712	524	D>N	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 Marfan syndrome [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001051221 rs727504421 CA020717 RCV000154616	524	D>Y	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1699708427 RCV001236076	525	P>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs121918714 RCV000688883 RCV000013326 CA020721 VAR_015816	526	E>Q	Malignant tumor of esophagus Familial thoracic aortic aneurysm and aortic dissection esophageal cancer [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001170900 rs1699708566	526	E>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV002274934 RCV000152012 CA020724 RCV000588481 rs727503476 RCV001066818	527	A>V	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_022360 RCV000013337 COSM1650139 rs104893810 RCV000691207 RCV000825631 RCV000197944 CA020726	528	R>C	lung Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 LDS2 [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000654809 CA020730 VAR_022361 rs104893815 RCV000013336 RCV000200178 RCV000211858 RCV000013335	528	R>H	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection Colorectal cancer, hereditary nonpolyposis, type 6 (hnpcc6) Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 Colorectal cancer, hereditary nonpolyposis, type 6 LDS2 [ClinVar, Ensembl, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_076171	530	T>I	LDS2 [UniProt]	Yes	UniProt
rs1699708963 RCV001303595	530	T>R	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs727503477 RCV002399532 RCV000152013 RCV002508195 CA020734	531	A>T	Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs750806566 RCV001179505	532	Q>H	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs587776769 RCV000013324	535	A>missing	Colorectal cancer, hereditary nonpolyposis, type 6 [ClinVar]	Yes	ClinVar dbSNP
rs1699709401 RCV001050416	535	A>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
CA020742 rs104893809 RCV000529794 RCV000013331 RCV000196289 VAR_022362	537	R>C	Familial thoracic aortic aneurysm and aortic dissection Variant assessed as Somatic; impact. Loeys-Dietz syndrome 2 LDS2; has a negative effect on TGF-beta signaling [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1035228561 RCV001037348 CA71547245	539	S>I	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs752099306 RCV001038665	547	L>V	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs755070814 RCV001555666 RCV000464975 CA047170 RCV002480400 RCV001420946	548	S>L	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs748418894 RCV001189486 RCV000590443 RCV002497236 CA047200	549	G>W	Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
CA2294235 RCV001178521 rs569635708 RCV001773424	553	S>L	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
RCV000152014 CA020746 RCV000337404 rs112215250 RCV000148891 RCV000241715 RCV000587520 RCV000680614 RCV001094793 RCV000239196 RCV002277295	553	S>T	Connective tissue disorder Loeys-Dietz syndrome Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 Congenital aneurysm of ascending aorta Marfan syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001180098 CA351809776 rs1325892805	555	E>K	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001190889 rs767015322	556	K>missing	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
RCV001186003 rs376815143 CA020750 RCV000154536 RCV001843485	560	D>E	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1559473531 RCV000768335 CA351809822 RCV003224459	561	G>A	Loeys-Dietz syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001181679 rs1559473531	561	G>D	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinVar dbSNP
rs979710806 CA71547406 RCV000689560	566	T>S	Familial thoracic aortic aneurysm and aortic dissection [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA050096 rs780267559	3	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	6	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA047505 rs777080264	8	G>D		No	ClinGen ExAC gnomAD
TCGA novel	8	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs920370571 CA72289963	9	L>R		No	ClinGen TOPMed
rs1206093523 CA351830515	11	P>L		No	ClinGen gnomAD
CA351830512 rs1201208132	11	P>T		No	ClinGen TOPMed
CA351830528 rs1437593960	13	H>Q		No	ClinGen gnomAD
rs769700663 CA048150	13	H>R		No	ClinGen ExAC gnomAD
rs1234963515 CA351830560	18	T>M		No	ClinGen gnomAD
CA049291 rs763085648	19	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1037753551 CA72289965	20	I>N		No	ClinGen Ensembl
CA049753 rs775405890	24	I>T		No	ClinGen ExAC gnomAD
rs1410470306 CA351830600	25	P>S		No	ClinGen gnomAD
TCGA novel	28	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1225583022 CA351830620	28	V>F		No	ClinGen TOPMed
rs1269086905 CA351830637	30	K>R		No	ClinGen gnomAD
rs761400349 CA050162	31	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1575143650 CA351806313	35	D>E		No	ClinGen Ensembl
rs17025864 CA351806315	36	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA71499880 rs969666859	37	I>V		No	ClinGen gnomAD
CA020754 RCV000037730 rs397516837	40	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs770482275 CA046247	43	G>A		No	ClinGen ExAC
rs749239632 CA71499897	43	G>C		No	ClinGen ExAC TOPMed gnomAD
rs749239632 CA046230	43	G>S		No	ClinGen ExAC TOPMed gnomAD
CA046311 rs759231102	44	A>V		No	ClinGen ExAC gnomAD
CA351806377 RCV000578622 rs1553627148	46	K>*		No	ClinGen ClinVar Ensembl dbSNP
CA047030 rs767191783	52	K>T		No	ClinGen ExAC
rs1192366381 CA351806442	55	D>N		No	ClinGen gnomAD
CA047221 rs549429104	55	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA047305 rs200924849	56	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs200924849 CA351806448	56	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA351806474 rs1170423783	60	T>P		No	ClinGen gnomAD
CA351806475 rs1170423783	60	T>S		No	ClinGen gnomAD
VAR_041414	61	C>R	a gastric adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	64	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	65	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301512235 CA351806524	66	S>C		No	ClinGen gnomAD
CA351806522 rs1575143713	66	S>P		No	ClinGen Ensembl
TCGA novel	67	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351806535 rs1060501985	68	M>V		No	ClinGen TOPMed gnomAD
rs1405785027 CA351806557 CA351806556	70	N>K		No	ClinGen gnomAD
VAR_036070	73	I>V	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	74	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351806580 rs1575143738	74	T>P		No	ClinGen Ensembl
CA351806593 rs754370908	76	I>L		No	ClinGen ExAC TOPMed gnomAD
rs913573840 CA71499932	76	I>T		No	ClinGen Ensembl
rs754370908 CA047457	76	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	78	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765447350 CA047530	81	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	87	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351806694 rs1215812419	88	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351806729 rs1182342277	93	E>G		No	ClinGen gnomAD
rs1223065891 CA351806755	97	L>V		No	ClinGen TOPMed
rs1473367944 CA351806763	98	E>G		No	ClinGen gnomAD
RCV000199130 CA323667 rs863223837	99	T>I		No	ClinGen ClinVar dbSNP gnomAD
rs144137785 CA71503219	101	C>Y		No	ClinGen ESP TOPMed
rs777472799 CA047939	102	H>L		No	ClinGen ExAC gnomAD
CA351806800 rs193922665	104	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	105	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756999639 CA047980	108	Y>H		No	ClinGen ExAC gnomAD
RCV000521998 rs1553627759 CA351806835	109	H>L		No	ClinGen ClinVar Ensembl dbSNP
rs778838598 CA71503253	109	H>N		No	ClinGen ExAC gnomAD
TCGA novel	115	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351806878 rs1575146525	115	D>V		No	ClinGen Ensembl
rs779603895 CA351806884	116	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1575146526 CA351806881	116	A>T		No	ClinGen Ensembl
CA048044 rs779603895	116	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351806899 rs1347722182	119	P>S		No	ClinGen TOPMed
TCGA novel	120	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263124193 CA351806933	123	M>I		No	ClinGen gnomAD
CA351806928 rs1202323737	123	M>K		No	ClinGen gnomAD
rs776374040 CA351806938	124	K>M		No	ClinGen ExAC gnomAD
CA048072 rs776374040	124	K>R		No	ClinGen ExAC gnomAD
CA048087 rs762282124	125	E>G		No	ClinGen ExAC TOPMed gnomAD
CA351806941 rs1389197358	125	E>K		No	ClinGen TOPMed
rs1559458941 CA351807015	135	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs377455599 CA048250	135	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	141	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351807065 rs1199303428	142	E>K		No	ClinGen TOPMed
CA048289 rs759498108	144	N>H		No	ClinGen ExAC gnomAD
rs767805920 CA048299	145	D>E		No	ClinGen ExAC gnomAD
rs1042058790 CA71503357	146	N>K		No	ClinGen TOPMed gnomAD
CA321058 RCV000196640 rs863223836	146	N>S		No	ClinGen ClinVar dbSNP gnomAD
CA351807106 rs1559458984	148	I>F		No	ClinGen Ensembl
rs1274930605	149	F>missing	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA048521 rs778675253	152	E>*		No	ClinGen ExAC TOPMed gnomAD
CA71527553 rs1014929115	157	N>S		No	ClinGen TOPMed
rs891238058 CA71527573	159	D>A		No	ClinGen TOPMed
CA351807202 rs1252013911	160	L>S		No	ClinGen gnomAD
rs1385327750 CA351807217	162	L>P		No	ClinGen gnomAD
TCGA novel	166	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779052721 CA71527595	167	V>G		No	ClinGen ExAC gnomAD
rs1266079634 CA351807246	167	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1177473314 CA351807255	168	T>I		No	ClinGen gnomAD
rs1371331911 CA351807277	172	L>F		No	ClinGen gnomAD
CA049160 rs752627750	172	L>P		No	ClinGen ExAC gnomAD
rs1387250073 CA351807296	175	P>L		No	ClinGen gnomAD
rs763513004 CA049183	181	S>Y		No	ClinGen ExAC gnomAD
CA049195 rs376358046	182	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371905176 CA351807345	184	I>F		No	ClinGen TOPMed gnomAD
RCV000196769 CA321188 rs863223839	184	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
TCGA novel	187	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71527750 rs973407277	188	C>G		No	ClinGen TOPMed
CA71527742 rs973407277	188	C>R		No	ClinGen TOPMed
rs758703490 CA049271	190	R>C		No	ClinGen ExAC gnomAD
TCGA novel	191	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270027856 CA351807401 CA351807402	192	N>K		No	ClinGen gnomAD
CA351807457 rs1162997625	201	W>R		No	ClinGen gnomAD
CA351807487 rs1233710052	205	K>R		No	ClinGen Ensembl
rs1295365314 CA351807492	206	T>A		No	ClinGen gnomAD
rs1288771489 CA351807508	209	L>V		No	ClinGen TOPMed gnomAD
rs763709160 CA049440	210	M>V		No	ClinGen ExAC gnomAD
CA351807540 rs1427971419	213	S>N		No	ClinGen TOPMed
rs1249003122 CA351807552	215	H>N		No	ClinGen gnomAD
CA049566 rs752110046	218	I>V		No	ClinGen ExAC gnomAD
rs781692282 CA049589	223	D>N		No	ClinGen ExAC gnomAD
rs202056618 CA71527972	227	I>V		No	ClinGen 1000Genomes
rs772053650 CA049673	229	S>T		No	ClinGen ExAC gnomAD
CA320151 rs863223840 RCV000195779	234	N>I		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	240	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208408166 CA351807773	248	T>A		No	ClinGen gnomAD
CA351807778 rs1278268899	249	L>V		No	ClinGen Ensembl
CA351807785 rs1173580610	250	V>L		No	ClinGen TOPMed
CA351807801 rs1160016010	252	K>N		No	ClinGen gnomAD
rs1472336039 CA351807799	252	K>R		No	ClinGen gnomAD
CA351807803 rs1559466824 RCV000762369	253	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs751948498 CA351807812	254	R>L		No	ClinGen ExAC TOPMed gnomAD
CA71528083 rs184297150	258	V>L		No	ClinGen 1000Genomes
rs755317450 CA049865	259	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	262	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	262	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71528114 rs868549326	264	K>T		No	ClinGen Ensembl
rs753184709 CA049908	266	N>S		No	ClinGen ExAC TOPMed gnomAD
rs867285040 CA71528125	267	T>I		No	ClinGen Ensembl
TCGA novel	269	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351807941 rs1415684178	273	T>I		No	ClinGen TOPMed
CA351807946 rs1228411775	274	V>A		No	ClinGen gnomAD
rs757521476 CA049958	275	A>S		No	ClinGen ExAC gnomAD
rs200679764 CA71528136	276	V>G		No	ClinGen gnomAD
rs1318654289 CA351807975	279	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	281	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1085307498 RCV000489303	282	E>missing		No	ClinVar dbSNP
rs1249816685 CA351808007	283	E>D		No	ClinGen gnomAD
CA050010 rs776497237	285	A>T		No	ClinGen ExAC gnomAD
rs1260260285 CA351808076	293	I>T		No	ClinGen TOPMed
rs748102367 CA050020	293	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	294	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365040421 CA351808092	295	S>L		No	ClinGen gnomAD
TCGA novel	296	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA050052 rs772678321	297	I>V		No	ClinGen ExAC gnomAD
rs751587466 CA71528229	298	N>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	302	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766038199 CA050112	302	E>V		No	ClinGen ExAC gnomAD
rs1328891008 CA351808151	304	I>T		No	ClinGen gnomAD
rs1383281802 CA351808148	304	I>V		No	ClinGen gnomAD
rs1274833112 CA351808166	306	Q>H		No	ClinGen gnomAD
CA050182 rs202168735	309	T>M		No	ClinGen ESP ExAC gnomAD
TCGA novel	310	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs397516841 CA020552 RCV000037739	312	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs200361387 CA351808207	313	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	316	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	317	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1575157861 CA351808228	317	L>V		No	ClinGen Ensembl
TCGA novel	319	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335113103 CA351808268	322	W>*		No	ClinGen gnomAD
CA351808269 rs1335113103	322	W>C		No	ClinGen gnomAD
rs863223858 CA321434 RCV000197001	322	W>G		No	ClinGen ClinVar Ensembl dbSNP
CA050718 rs769750420	326	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351808300 rs1429960106	327	F>L		No	ClinGen gnomAD
CA050726 rs193922666	328	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_041415	328	H>Y	a lung neuroendocrine carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA050756 rs376752333	329	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351808322 rs1332138742	331	G>D		No	ClinGen gnomAD
CA050772 rs759215875	331	G>S		No	ClinGen ExAC gnomAD
CA324102 RCV000199560 rs863223841	333	L>Q		No	ClinGen ClinVar Ensembl dbSNP
rs775897166 CA351808341	334	Q>L		No	ClinGen ExAC gnomAD
CA045319 rs775897166	334	Q>R		No	ClinGen ExAC gnomAD
CA71528506 rs17854016	335	E>*		No	ClinGen Ensembl
CA71528554 rs752866783	338	T>K		No	ClinGen TOPMed gnomAD
rs750658746 CA045424	342	I>F		No	ClinGen ExAC gnomAD
TCGA novel	345	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71528616 rs756159556	352	S>R		No	ClinGen Ensembl
CA045505 rs777689025	354	L>I		No	ClinGen ExAC
rs104893813 CA045538	355	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778467588 CA045550	355	A>V		No	ClinGen ExAC TOPMed gnomAD
rs370995723 CA045607	357	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs189119533 CA045619 RCV000788389	360	H>D		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs727503474 RCV000152007	361	L>missing		No	ClinVar dbSNP
TCGA novel	361	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs863223842 RCV000200101 CA324658	362	H>R		No	ClinGen ClinVar Ensembl dbSNP
rs149195553 CA351808519	364	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1244365502 CA351808515	364	D>H		No	ClinGen gnomAD
CA351808539 rs1226482581	367	P>L		No	ClinGen gnomAD
rs765447250 CA045693	369	G>R		No	ClinGen ExAC gnomAD
CA351808549 rs765447250	369	G>W		No	ClinGen ExAC gnomAD
rs550421922 CA351808555	370	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA045705 rs550421922	370	R>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	371	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753782498 CA351808572	372	K>N		No	ClinGen ExAC TOPMed gnomAD
CA320627 rs863223843 RCV000196206	374	P>S		No	ClinGen ClinVar Ensembl dbSNP
CA71528768 rs927452109	375	I>V		No	ClinGen TOPMed gnomAD
rs886038847 RCV000247764 CA10587568	379	D>V		No	ClinGen ClinVar Ensembl dbSNP
RCV000198413 CA322910 rs863223844	382	S>N		No	ClinGen ClinVar Ensembl dbSNP
CA351808655 rs1400565122	385	I>M		No	ClinGen gnomAD
CA71528774 rs111319732	385	I>S		No	ClinGen Ensembl
CA045877 rs779762218	391	L>V		No	ClinGen ExAC gnomAD
RCV000200504 CA325083 rs863223846	397	D>G		No	ClinGen ClinVar Ensembl dbSNP
rs1036756776 CA71528929	398	F>L		No	ClinGen TOPMed
rs1023568316 CA71528937	399	G>R		No	ClinGen Ensembl
CA351808762 rs143095746	403	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	404	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1575158153 RCV000788422 CA351808776	405	D>E		No	ClinGen ClinVar Ensembl dbSNP
CA71529046 rs896940233	407	T>I		No	ClinGen TOPMed
CA351808786 rs896940233	407	T>S		No	ClinGen TOPMed
rs1699361288 RCV001200661	414	A>V		No	ClinVar dbSNP
CA324927 rs863223848 RCV000200367	419	V>E		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	420	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10587570 RCV000243905 rs886038787	421	T>A		No	ClinGen ClinVar Ensembl dbSNP
rs771094273 CA046200	423	R>G		No	ClinGen ExAC gnomAD
RCV000788165 rs1575158901	423	R>R		No	ClinVar dbSNP
CA71530867 rs878854610	424	Y>F		No	ClinGen Ensembl
CA323900 RCV000199365 rs730880224	426	A>D		No	ClinGen ClinVar Ensembl dbSNP
CA321583 RCV000197140 rs863223849	426	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000195460 CA319801 rs863223850	427	P>S		No	ClinGen ClinVar Ensembl dbSNP
RCV000037732 rs397516838 CA020653	428	E>Q		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	429	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351808931 rs1575158925	429	V>G		No	ClinGen Ensembl
CA351808935 rs1371233083	430	L>R		No	ClinGen gnomAD
CA351808959 rs1355658397	434	M>V		No	ClinGen TOPMed
VAR_022356	435	N>S	a breast tumor; signaling of TGF-beta significantly inhibited [UniProt]	No	UniProt
TCGA novel	440	E>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750318338 CA71530965	443	K>R		No	ClinGen Ensembl
CA71530976 rs758294183	444	Q>*		No	ClinGen Ensembl
CA046331 rs775637046	444	Q>H		No	ClinGen ExAC gnomAD
CA321430 rs863223851 RCV000197000	446	D>E		No	ClinGen ClinVar Ensembl dbSNP
VAR_022357	447	V>A	a breast tumor; signaling of TGF-beta significantly inhibited [UniProt]	No	UniProt
CA046382 rs750434928	447	V>I		No	ClinGen ExAC gnomAD
CA351809072 rs1480594626	450	M>I		No	ClinGen TOPMed
VAR_022359	452	L>M	a breast tumor; signaling of TGF-beta significantly inhibited [UniProt]	No	UniProt
CA046409 rs144766594	465	G>*		No	ClinGen ESP ExAC gnomAD
rs772076729 CA046520	469	D>G		No	ClinGen ExAC gnomAD
CA351809205 rs1407331537	469	D>H		No	ClinGen gnomAD
rs772076729 CA046538	469	D>V		No	ClinGen ExAC gnomAD
TCGA novel	469	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000598649 rs1553631696 CA351809215	470	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs760797386 CA046550	470	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	471	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000197541 CA322002 rs397516839	473	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs397516839 RCV000037733 CA020679	473	P>Q		No	ClinGen ClinVar Ensembl dbSNP
CA71543602 rs900026603	475	G>S		No	ClinGen Ensembl
rs769682815 CA046560	476	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1180382801 CA351809261	478	V>L		No	ClinGen gnomAD
CA351809267 rs1444024775	479	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs762756916 CA046582 RCV000781900	481	H>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA046659 rs752444160	487	M>I		No	ClinGen ExAC gnomAD
CA046645 rs767120937	487	M>V		No	ClinGen ExAC TOPMed gnomAD
CA71543680 rs891207290	488	K>R		No	ClinGen Ensembl
VAR_041417	490	N>S	a gastric adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
CA046695 rs754176932	491	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	492	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351809378 rs104893819	495	R>G		No	ClinGen TOPMed
rs1305853447 CA351809381	495	R>L		No	ClinGen TOPMed gnomAD
CA046720 rs200958264	497	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
RCV001090475 rs1553631720	498	P>S		No	ClinVar dbSNP
TCGA novel	499	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA046730 rs746373651	501	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA046758 rs747068726	507	H>Y		No	ClinGen ExAC gnomAD
rs776851006 CA046790	508	Q>*		No	ClinGen ExAC gnomAD
rs1378593393 CA351809485	510	I>T		No	ClinGen TOPMed
rs1166402557 CA351809503	512	M>I		No	ClinGen gnomAD
CA351809505 rs1331629729	513	V>L		No	ClinGen TOPMed
RCV000249863 rs886038768 CA10587573	522	D>V		No	ClinGen ClinVar Ensembl dbSNP
rs775441401 CA047045	523	H>D		No	ClinGen ExAC gnomAD
TCGA novel	523	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351809573 rs775441401	523	H>Y		No	ClinGen ExAC gnomAD
rs201601508 CA71547216	529	L>I		No	ClinGen Ensembl
CA351809628 rs1196415682	532	Q>P		No	ClinGen gnomAD
CA351809626 rs1196415682	532	Q>R		No	ClinGen gnomAD
CA351809641 rs1275235989	534	V>M		No	ClinGen gnomAD
RCV000429672 CA16604407 rs1057524810	537	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs369806947 CA71547254	540	E>D		No	ClinGen Ensembl
CA351809696 rs375226321	542	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	542	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178327690 CA351809718	545	D>E		No	ClinGen TOPMed
rs752099306 CA047159	547	L>F		No	ClinGen ExAC gnomAD
CA351809770 rs1575166745	554	E>K		No	ClinGen Ensembl
CA71547328 rs200642740	558	P>A		No	ClinGen Ensembl
TCGA novel	559	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768103695 CA047334	561	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA047361 rs761275220	566	T>A		No	ClinGen ExAC gnomAD
CA351809852 rs979710806	566	T>N		No	ClinGen Ensembl
rs772782677 CA047384	567	K>T		No	ClinGen ExAC gnomAD

3 associated diseases with P37173

[MIM: 614331]: Hereditary non-polyposis colorectal cancer 6 (HNPCC6)

An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria

[MIM: 133239]: Esophageal cancer (ESCR)

A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:10789724}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 610168]: Loeys-Dietz syndrome 2 (LDS2)

An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269|PubMed:15235604, ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16027248, ECO:0000269|PubMed:16251899, ECO:0000269|PubMed:19533785, ECO:0000269|PubMed:19883511, ECO:0000269|PubMed:20101701, ECO:0000269|PubMed:20358619, ECO:0000269|PubMed:21949523, ECO:0000269|PubMed:22113417}. Note=The disease is caused by variants affecting the gene represented in this entry. TGFBR2 mutations Cys-460 and His-460 have been reported to be associated with thoracic aortic aneurysms and dissection (TAAD). This phenotype, also known as thoracic aortic aneurysms type 3 (AAT3), is distinguised from LDS2 by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit descending aortic disease and aneurysms of other arteries (PubMed:16027248), they have been considered as LDS2 by the OMIM resource. {ECO:0000269|PubMed:16027248}.

Without disease ID

An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria
A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:10789724}. Note=The disease is caused by variants affecting the gene represented in this entry.
An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269|PubMed:15235604, ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16027248, ECO:0000269|PubMed:16251899, ECO:0000269|PubMed:19533785, ECO:0000269|PubMed:19883511, ECO:0000269|PubMed:20101701, ECO:0000269|PubMed:20358619, ECO:0000269|PubMed:21949523, ECO:0000269|PubMed:22113417}. Note=The disease is caused by variants affecting the gene represented in this entry. TGFBR2 mutations Cys-460 and His-460 have been reported to be associated with thoracic aortic aneurysms and dissection (TAAD). This phenotype, also known as thoracic aortic aneurysms type 3 (AAT3), is distinguised from LDS2 by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit descending aortic disease and aneurysms of other arteries (PubMed:16027248), they have been considered as LDS2 by the OMIM resource. {ECO:0000269|PubMed:16027248}.

1 regional properties for P37173

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	118 - 386	IPR017452

Functions

		Description
EC Number	2.7.11.30	Protein-serine/threonine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Membrane raft ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
transforming growth factor beta ligand-receptor complex	A protein complex that is formed by the association of a TGF-beta dimeric ligand with 2 molecules of each receptor molecule, TGF-beta type I receptor and TGF-beta type II receptor. The receptor molecules may form homo- or heterodimers but only once bound by the ligand.

15 GO annotations of molecular function

Name	Definition
activin binding	Binding to activin, a dimer of inhibin-beta subunits.
activin receptor activity	Combining with activin and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Activin is one of two gonadal glycoproteins related to transforming growth factor beta.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
glycosaminoglycan binding	Binding to a glycan (polysaccharide) containing a substantial proportion of aminomonosaccharide residues.
metal ion binding	Binding to a metal ion.
mitogen-activated protein kinase kinase kinase binding	Binding to a mitogen-activated protein kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
SMAD binding	Binding to a SMAD signaling protein.
transforming growth factor beta binding	Binding to TGF-beta, transforming growth factor beta, a multifunctional peptide that controls proliferation, differentiation and other functions in many cell types.
transforming growth factor beta receptor activity	Combining with a transforming growth factor beta (TGFbeta) and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
transforming growth factor beta receptor activity, type II	Combining with transforming growth factor beta to initiate a change in cell activity; upon ligand binding, binds to and catalyzes the phosphorylation of a type I TGF-beta receptor.
transmembrane receptor protein serine/threonine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
type I transforming growth factor beta receptor binding	Binding to a type I transforming growth factor beta receptor.
type III transforming growth factor beta receptor binding	Binding to a type III transforming growth factor beta receptor.

74 GO annotations of biological process

Name	Definition
activation of protein kinase activity	Any process that initiates the activity of an inactive protein kinase.
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
animal organ regeneration	The regrowth of a lost or destroyed animal organ.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
atrioventricular valve morphogenesis	The process in which the structure of the atrioventricular valve is generated and organized.
blood vessel development	The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
bronchus morphogenesis	The process in which the bronchus is generated and organized. The bronchus is the portion of the airway that connects to the lungs.
cardiac left ventricle morphogenesis	The process in which the left cardiac ventricle is generated and organized.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
common-partner SMAD protein phosphorylation	The process of introducing a phosphate group on to a common-partner SMAD protein. A common partner SMAD protein binds to pathway-restricted SMAD proteins forming a complex that translocates to the nucleus.
digestive tract development	The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.
embryo implantation	Attachment of the blastocyst to the uterine lining.
embryonic cranial skeleton morphogenesis	The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.
embryonic hemopoiesis	The stages of blood cell formation that take place within the embryo.
endocardial cushion fusion	The cell-cell adhesion process of mesenchymal cardiac cushion cells that contributes to the process of cushion shaping.
gastrulation	A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.
growth plate cartilage chondrocyte growth	The growth of a growth plate cartilage chondrocyte, where growth contributes to the progression of the chondrocyte over time from one condition to another.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
heart looping	The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
inferior endocardial cushion morphogenesis	The developmental process by which an inferior endocardial cushion is generated and organized.
Langerhans cell differentiation	The process in which a precursor cell type acquires the specialized features of a Langerhans cell.
lens development in camera-type eye	The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.
lens fiber cell apoptotic process	Any apoptotic process in a lens fiber cell. Lens fiber cells are elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye.
lung lobe morphogenesis	The process in which the anatomical structures of a lung lobe are generated and organized. A lung lobe is a projection that extends from the lung.
mammary gland morphogenesis	The process in which anatomical structures of the mammary gland are generated and organized. Morphogenesis refers to the creation of shape. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
membranous septum morphogenesis	The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum.
miRNA transport	The directed movement of microRNA (miRNA) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore.
myeloid dendritic cell differentiation	The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin.
negative regulation of cardiac muscle cell proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle cell proliferation.
Notch signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
outflow tract morphogenesis	The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries.
outflow tract septum morphogenesis	The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract.
pathway-restricted SMAD protein phosphorylation	The process of introducing a phosphate group on to a pathway restricted SMAD protein. A pathway restricted SMAD protein is an effector protein that acts directly downstream of the transforming growth factor family receptor.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
peptidyl-threonine phosphorylation	The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of B cell tolerance induction	Any process that activates or increases the frequency, rate, or extent of B cell tolerance induction.
positive regulation of CD4-positive, alpha-beta T cell proliferation	Any process that activates or increases the frequency, rate or extent of CD4-positive, alpha-beta T cell proliferation.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of epithelial cell migration	Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	Any process that activates or increases the frequency, rate or extent of epithelial to mesenchymal transition involved in endocardial cushion formation.
positive regulation of mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.
positive regulation of NK T cell differentiation	Any process that activates or increases the frequency, rate or extent of natural killer T cell differentiation.
positive regulation of pathway-restricted SMAD protein phosphorylation	Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
positive regulation of reactive oxygen species metabolic process	Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process.
positive regulation of skeletal muscle tissue regeneration	Any process that activates or increase the rate of skeletal muscle regeneration.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
positive regulation of T cell tolerance induction	Any process that activates or increases the frequency, rate, or extent of T cell tolerance induction.
positive regulation of tolerance induction to self antigen	Any process that activates or increases the frequency, rate, or extent of tolerance induction to self antigen.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of stem cell proliferation	Any process that modulates the frequency, rate or extent of stem cell proliferation. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
response to cholesterol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus.
response to estrogen	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics.
response to glucose	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
response to hypoxia	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to mechanical stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.
response to nutrient	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.
response to steroid hormone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
secondary palate development	The biological process whose specific outcome is the progression of the secondary palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The secondary palate is the part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.
trachea formation	The process pertaining to the initial formation of a trachea from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the trachea is recognizable. The trachea is the portion of the airway that attaches to the bronchi as it branches.
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
tricuspid valve morphogenesis	The process in which the structure of the tricuspid valve is generated and organized.
vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.
ventricular septum morphogenesis	The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q95126	ACVR2B	Activin receptor type-2B	Bos taurus (Bovine)	PR
Q90670	ACVR2B	Activin receptor type-2B	Gallus gallus (Chicken)	PR
Q90999	TGFBR2	TGF-beta receptor type-2	Gallus gallus (Chicken)	PR
Q13705	ACVR2B	Activin receptor type-2B	Homo sapiens (Human)	PR
Q8NER5	ACVR1C	Activin receptor type-1C	Homo sapiens (Human)	PR
P36897	TGFBR1	TGF-beta receptor type-1	Homo sapiens (Human)	PR
Q8K592	Amhr2	Anti-Muellerian hormone type-2 receptor	Mus musculus (Mouse)	PR
P27040	Acvr2b	Activin receptor type-2B	Mus musculus (Mouse)	PR
Q62312	Tgfbr2	TGF-beta receptor type-2	Mus musculus (Mouse)	PR
Q66T47	ACVR2B	Activin receptor type-2B	Sus scrofa (Pig)	PR
P38445	Acvr2b	Activin receptor type-2B	Rattus norvegicus (Rat)	PR
Q62893	Amhr2	Anti-Muellerian hormone type-2 receptor	Rattus norvegicus (Rat)	PR
P38438	Tgfbr2	TGF-beta receptor type-2	Rattus norvegicus (Rat)	PR
P50488	daf-4	Cell surface receptor daf-4	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGRGLLRGLW	PLHIVLWTRI	ASTIPPHVQK	SVNNDMIVTD	NNGAVKFPQL	CKFCDVRFST
70	80	90	100	110	120
CDNQKSCMSN	CSITSICEKP	QEVCVAVWRK	NDENITLETV	CHDPKLPYHD	FILEDAASPK
130	140	150	160	170	180
CIMKEKKKPG	ETFFMCSCSS	DECNDNIIFS	EEYNTSNPDL	LLVIFQVTGI	SLLPPLGVAI
190	200	210	220	230	240
SVIIIFYCYR	VNRQQKLSST	WETGKTRKLM	EFSEHCAIIL	EDDRSDISST	CANNINHNTE
250	260	270	280	290	300
LLPIELDTLV	GKGRFAEVYK	AKLKQNTSEQ	FETVAVKIFP	YEEYASWKTE	KDIFSDINLK
310	320	330	340	350	360
HENILQFLTA	EERKTELGKQ	YWLITAFHAK	GNLQEYLTRH	VISWEDLRKL	GSSLARGIAH
370	380	390	400	410	420
LHSDHTPCGR	PKMPIVHRDL	KSSNILVKND	LTCCLCDFGL	SLRLDPTLSV	DDLANSGQVG
430	440	450	460	470	480
TARYMAPEVL	ESRMNLENVE	SFKQTDVYSM	ALVLWEMTSR	CNAVGEVKDY	EPPFGSKVRE
490	500	510	520	530	540
HPCVESMKDN	VLRDRGRPEI	PSFWLNHQGI	QMVCETLTEC	WDHDPEARLT	AQCVAERFSE
550	560
LEHLDRLSGR	SCSEEKIPED	GSLNTTK