AiPD: Autoinhibited Protein Database

P32004

Gene name	L1CAM (CAML1, MIC5)
Protein name	Neural cell adhesion molecule L1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3897
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1137-1257 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1137-1257 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

3 structures for P32004

Entry ID	Method	Resolution	Chain	Position	Source
8AFO	X-ray	199 A	A	712-917	PDB
8AFP	X-ray	300 A	A	712-917	PDB
AF-P32004-F1	Predicted				AlphaFoldDB

790 variants for P32004

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1603277433 RCV000990984	1	M>I	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_003921	9	W>S	HYCX [UniProt]	Yes	UniProt
RCV002313751 RCV000078738 RCV001087331 CA146093 RCV000224350 rs144605615	10	P>S	Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2064809181 RCV001262132	11	L>missing	MASA syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2064809071 RCV001751393 RCV001213725	13	L>missing	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
RCV000867312 rs201990980 RCV002381944 CA10554664	33	E>D	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000524706 RCV002314948 CA10554662 rs201151358 RCV001662537 RCV002497076 VAR_078352 RCV001653889	38	T>M	Spastic paraplegia MASA syndrome Inborn genetic diseases no effect on localization at the cell surface [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002379917 CA10554658 rs370782270 RCV001240369	44	R>C	Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2064782292 RCV001261519	47	V>missing	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinVar dbSNP
CA10554627 RCV000604142 RCV001457196 rs144542429	78	P>S	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002517722 RCV002453634 rs149309725 RCV000178098 CA245105	86	V>M	Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10554626 RCV000864758 rs782178366	89	S>L	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10554614 RCV000721055 rs781908326 RCV000532238	113	R>H	Variant assessed as Somatic; 6.254e-05 impact. History of neurodevelopmental disorder Spastic paraplegia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_003922	121	G>S	HYCX [UniProt]	Yes	UniProt
RCV001428176 rs782752037 RCV000867169 CA10554610 COSM216856	123	A>T	pancreas Spastic paraplegia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001515064 CA245107 RCV000178099 rs200809259	129	R>Q	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1064796291 CA415136716 RCV000802209	151	G>A	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1603276234 CA415136571 RCV000794906	158	C>Y	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000803125 CA415136462 rs1603276226	163	S>G	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000010676 rs137852523 CA254961 VAR_003923	179	I>S	MASA syndrome HYCX and MASA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002345239 VAR_003924 RCV001824565 rs137852521 RCV000010672 CA254959	184	R>Q	X-linked hydrocephalus syndrome L1 syndrome Inborn genetic diseases HYCX; severe; reduced axon arborization; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, restricted to cell bodies and proximal segments of processes; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_030404	184	R>W	HYCX [UniProt]	Yes	UniProt
VAR_003925	194	Y>C	HYCX [UniProt]	Yes	UniProt
RCV002225750 CA415135433 RCV000850499 rs1603276146	202	D>N	MASA syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030405	202	D>Y	MASA; loss of homophilic interactions at the cell surface; no effect on localization at the cell surface [UniProt]	Yes	UniProt
RCV000996050 RCV000194913 rs201474883 RCV003114346 CA209390	206	D>E	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000010669 rs28933683 CA254955 CA337263752 VAR_003926	210	H>Q	MASA syndrome MASA; decrease in cell-matrix adhesion; decreased cell migration; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells [ClinVar, UniProt]	Yes	ClinGen ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP
rs201204893 RCV001290966	217	R>G	MASA syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_003927	219	I>T	HYCX; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells [UniProt]	Yes	UniProt
rs1557092782 RCV000497542 CA415133522 RCV000678319	235	M>T	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001093004 VAR_003928 RCV001257991 RCV000010684 rs137852526 CA120882 RCV000010683	240	P>L	X-linked complicated corpus callosum dysgenesis Congenital cerebellar hypoplasia X-linked hydrocephalus syndrome HYCX and ACCPX [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10554513 rs782163019 RCV001254092	248	S>Y	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000790408 rs1603276024	250	S>missing	L1 syndrome [ClinVar]	Yes	ClinVar dbSNP
CA254954 rs137852518 RCV000010667 VAR_003929	264	C>Y	X-linked hydrocephalus syndrome HYCX; severe; loss of localization to the cell surface; retention in the endoplasmic reticulum; loss of axon guidance, when assayed in a heterologous system [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_030406	268	G>D	MASA [UniProt]	Yes	UniProt
RCV001069390 rs201311640	304	E>*	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
RCV001040041 VAR_003930 RCV001266763 CA10554471 RCV002239304 rs367665974 RCV001545171 RCV001809962 COSM1756452	309	E>K	X-linked complicated corpus callosum dysgenesis urinary_tract L1 syndrome Spastic paraplegia Inborn genetic diseases MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on axon guidance, on subcellular location to synaptic terminals, nor on proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA10554463 RCV000983859 rs144692079	322	R>W	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000484845 CA16621236 RCV002525764 rs1064793162	333	P>R	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030407	335	W>C	HYCX [UniProt]	Yes	UniProt
VAR_003931	335	W>R	HYCX and MASA; also in a patient with hydrocephalus and Hirschsprung disease [UniProt]	Yes	UniProt
RCV002546562 rs2064751060 RCV001332431	367	R>K	Spastic paraplegia MASA syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000255983 CA254962 RCV001198070 RCV000815545 RCV000010677 VAR_003932 rs137852524	370	G>R	X-linked hydrocephalus syndrome Spastic paraplegia MASA syndrome HYCX and MASA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001241860 rs1185735801 CA415130042	381	K>N	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs782254209 CA10554417 RCV002318079	383	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1557092299 COSM1117621 VAR_003933 CA415129947	386	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium HYCX [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD
CA10554410 rs782756293 COSM1212934 RCV000688821	407	R>C	large_intestine Spastic paraplegia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs139197516 RCV002318090 CA337263142	407	R>H	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
rs2064747653 RCV001260986	408	N>D	MASA syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_030408	408	N>I	HYCX [UniProt]	Yes	UniProt
CA337263136 RCV001238051 rs994675918	408	N>K	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_027512	415	A>P	HYCX [UniProt]	Yes	UniProt
VAR_030409	421	V>D	HYCX [UniProt]	Yes	UniProt
rs1557092248 RCV000520443 RCV000792269 CA415129000	423	Q>*	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030410	426	A>D	MASA [UniProt]	Yes	UniProt
RCV002527490 rs371999853 CA337262876 RCV000517132	435	T>M	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_003934	439	V>del	HYCX [UniProt]	Yes	UniProt
CA254958 RCV000254986 VAR_003935 rs137852520 RCV000010671 RCV000503947 RCV000685761 RCV001553633	452	G>R	Hydrocephalus due to aqueductal stenosis X-linked hydrocephalus syndrome Variant assessed as Somatic; impact. L1 syndrome Spastic paraplegia HYCX; severe [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA415128142 rs1557092050 RCV000539404	453	A>V	Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA16621234 RCV001262258 COSM162078 rs1064793163 RCV000487331	470	Q>*	X-linked hydrocephalus syndrome breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM457066 RCV001063204 rs886039408 RCV001251391 CA10588750 RCV000256126 VAR_003936	473	R>C	large_intestine Variant assessed as Somatic; impact. L1 syndrome Spastic paraplegia breast HYCX and MASA [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000704149 CA415126175 rs1298830102	478	A>D	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_030411 RCV000478627 rs1064794246 CA16621233	482	L>P	MASA [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001855005 RCV001391257 RCV000255535 rs886039407 CA10588749	485	R>*	X-linked hydrocephalus syndrome Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM611715 CA10554358 rs782038855 RCV000793609	494	R>H	lung Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_030412	497	C>Y	HYCX [UniProt]	Yes	UniProt
RCV000705270 rs782367931 CA415125451 VAR_078368	516	D>N	Spastic paraplegia found in a patient with L1 syndrome; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA415125242 rs1569544754 RCV000681474	524	P>S	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030413	526	S>del	HYCX [UniProt]	Yes	UniProt
CA10602720 rs886041102 RCV000258946	539	C>G	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030414	542	S>P	HYCX [UniProt]	Yes	UniProt
RCV001044106 CA415124597 rs1557091773 COSM1466643 RCV002298692 RCV000579326	558	R>*	large_intestine Variant assessed as Somatic; impact. Spastic paraplegia MASA syndrome [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA415124559 rs1414810082 RCV000804825	560	L>F	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs199888009 RCV002413377 RCV001517300 RCV001848871 RCV000500394 CA10554306	587	G>R	Hereditary spastic paraplegia Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001050309 rs137940405	596	E>Q	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
RCV000010670 VAR_003937 rs137852519 CA254957	598	D>N	MASA syndrome MASA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000813993 rs1603275195	608	V>missing	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
RCV000078728 CA220726 VAR_078371 rs398123360 RCV002055098 COSM39528	627	T>M	central_nervous_system Spastic paraplegia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA10554273 rs782367123 RCV000869671	632	R>C	Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_003938	632	R>P	MASA [UniProt]	Yes	UniProt
rs863224494 CA347460 RCV000195759	647	K>*	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1375788131 VAR_030415 CA415122223	655	K>E	HYCX [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
RCV002415749 RCV001522149 RCV000175007 rs199592861 CA240650 RCV000415952	665	L>V	Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA415121977 rs1569544723 RCV000685478	672	Q>*	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_027513	674	S>C	MASA; associated with callosal agenesis [UniProt]	Yes	UniProt
CA415121847 RCV000633032 rs1557091354 RCV001766346	681	P>L	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782746537 CA10554245 RCV000689607	689	V>I	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_003939	691	A>D	MASA; associated with callosal agenesis [UniProt]	Yes	UniProt
VAR_030416	691	A>T	HYCX [UniProt]	Yes	UniProt
rs886039409 RCV000255190 CA10588748 VAR_003940	698	G>R	HYCX and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000703115 CA415121027 rs1569544718	732	V>D	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1557091083 CA415120859 VAR_030418	741	M>T	HYCX [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_030419	751	R>P	HYCX [UniProt]	Yes	UniProt
RCV003151718 CA120881 rs137852525 VAR_014421 COSM457065 RCV001794442	752	V>M	X-linked hydrocephalus syndrome Variant assessed as Somatic; 0.0 impact. breast HYCX and MASA; also found in a patient with the diagnosis of L1 syndrome; also in a patient with hydrocephalus and Hirschsprung disease [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV001306307 rs2064718045	753	Q>missing	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
CA207441 RCV000714718 RCV000193744 RCV000714717 RCV002509289 RCV000494147 rs797045673	760	R>*	Hydrocephalus due to aqueductal stenosis X-linked complicated corpus callosum dysgenesis X-linked hydrocephalus syndrome L1 syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1569544704 CA415120419 RCV000707011	767	I>T	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_003941	768	V>F	HYCX [UniProt]	Yes	UniProt
RCV001083170 VAR_030420 RCV000194324 RCV001847649 RCV002313749 rs36021462 CA208427 RCV000439917	768	V>I	Hereditary spastic paraplegia Spastic paraplegia Inborn genetic diseases decreased cell-cell adhesion; no effect on subcellular localization; no effect on neurite outgrowth [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_027514 RCV000290168 rs148516831 CA10604529 RCV002271484	770	D>N	MASA; associated with callosal agenesis [UniProt]	Yes	ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD
VAR_003942 rs797045674 RCV000192536 CA205417	784	Y>C	Hydrocephalus due to aqueductal stenosis HYCX [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000211546 CA10576254 RCV002229193 rs875989884	794	Q>*	X-linked hydrocephalus syndrome L1 syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV003151717 rs879253715	808	G>missing	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000990983 rs1603274424	814	A>missing	X-linked hydrocephalus syndrome [ClinVar]	Yes	ClinVar dbSNP
rs149737236 RCV002313631 RCV002534561 COSM1117589 CA10554160	846	R>H	endometrium Spastic paraplegia Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000146245 rs149737236 RCV001847778 RCV002453468 RCV002515965 CA172446 RCV000431818	846	R>L	Hereditary spastic paraplegia Hydrocephalus due to aqueductal stenosis Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886039410 RCV000633025 CA10588747 RCV000255493	848	Y>*	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs782419777 RCV002067012 CA10554140 COSM77986 RCV002312442	851	T>M	ovary large_intestine Spastic paraplegia Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001210967 rs2064704974	853	W>*	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
RCV001509675 rs185418119 RCV000736050 CA10554136	861	H>Q	Aganglionic megacolon Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001332432 rs2064704352	867	H>Y	MASA syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002516697 rs142603269 RCV002492755 CA201766 RCV000176035	886	R>Q	Spastic paraplegia MASA syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000517896 RCV000822372 CA10554123 rs782097679	900	G>R	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001290587 rs2064703218	906	A>missing	L1 syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_003943	935	L>P	HYCX [UniProt]	Yes	UniProt
VAR_003944	936	L>del	HYCX [UniProt]	Yes	UniProt
VAR_003945	941	P>L	HYCX and MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells [UniProt]	Yes	UniProt
RCV000703388 CA415114716 rs1569544662	950	G>S	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA415114604 RCV001061777 rs1307427270	957	P>T	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001847651 VAR_059413 RCV000224902 RCV000078736 RCV002311557 CA146091 RCV001084616 rs35902890	958	L>V	Hereditary spastic paraplegia Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000430013 RCV000010682 CA10575514 rs879253717	992	Q>*	Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001854387 CA220731 rs398123365 RCV000078739	1005	I>T	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002542850 RCV001267448 CA10554046 rs201128366	1006	V>I	Spastic paraplegia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1557090161 RCV000502360 CA415113518	1018	S>*	Hydrocephalus due to aqueductal stenosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200815347 CA10554033 RCV000861212 RCV001088727	1019	D>E	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_078382	1036	W>L	HYCX; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, partial loss of localization to axons, but enriched on proximal dendrites [UniProt]	Yes	UniProt
RCV002524421 RCV000656097 CA415111544 rs1484399991	1055	G>R	X-linked complicated corpus callosum dysgenesis Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001219669 rs1232974377 CA415111325	1061	A>S	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002315337 rs1569544630 CA415111302	1063	L>F	Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
VAR_003946	1070	Y>C	HYCX; partial loss of axon guidance and loss of proper synapse formation, when assayed in a heterologous system [UniProt]	Yes	UniProt
RCV001257682 rs2064692485	1076	T>P	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs2064692244 RCV001251323	1081	Q>*	L1 syndrome [ClinVar]	Yes	ClinVar dbSNP
CA10553972 rs782420127 COSM1212933 RCV002534505 RCV000712206	1109	R>H	large_intestine Spastic paraplegia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000542375 rs781860875 CA10553962 RCV000501462	1138	L>V	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001239298 rs2064686873	1150	K>missing	Spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP
RCV000010673 rs879253714	1164	E>missing	MASA syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1418885000 RCV000802301 RCV001553213 CA415108666	1166	R>*	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA16621229 RCV000479930 rs1064796541 RCV002525939	1175	E>K	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002460037 VAR_003947 RCV001257378 RCV000010674 RCV000413812 CA254960 rs137852522 RCV000010675	1194	S>L	X-linked hydrocephalus syndrome Hydrops fetalis MASA syndrome Inborn genetic diseases HYCX and MASA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000992267 RCV003163045 CA415106742 RCV000660611 rs1369743518	1218	Q>H	Inborn genetic diseases MASA syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_003948	1224	S>L	HYCX [UniProt]	Yes	UniProt
RCV001332430 rs2064673421	1252	P>S	X-linked complicated corpus callosum dysgenesis [ClinVar]	Yes	ClinVar dbSNP
rs1557089225 CA415105636 RCV000545618	1257	E>G	Spastic paraplegia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs782235888 RCV001265999	1258	E>Y	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA10554706 rs782267074	4	A>T		No	ClinGen ExAC gnomAD
rs201284179 CA10554705	4	A>V		No	ClinGen 1000Genomes ExAC
rs782609143 CA10554702	6	R>P		No	ClinGen ExAC gnomAD
rs398123362 RCV000173129	8	V>missing		No	ClinVar dbSNP
RCV000314558 rs886044768 CA10603776	8	V>E		No	ClinGen ClinVar Ensembl dbSNP
rs1557094409 RCV000657775 CA415143117	9	W>*		No	ClinGen ClinVar Ensembl dbSNP
RCV001008072 rs1603277417	17	C>missing		No	ClinVar dbSNP
CA415142725 rs1311732412	20	I>L		No	ClinGen TOPMed
CA415142515 rs1557094385	24	E>K		No	ClinGen gnomAD
rs1335792529 CA415142473	25	E>K		No	ClinGen TOPMed
VAR_078350	26	Y>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA415141899 rs1557093757	27	E>A		No	ClinGen gnomAD
CA415141878 rs1557093752	28	G>R		No	ClinGen gnomAD
rs782772477 CA10554678	29	H>R		No	ClinGen ExAC TOPMed gnomAD
VAR_030403	30	H>N		No	UniProt
rs782476478 RCV000870382 CA10554665	31	V>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_078351	37	I>N	probable disease-associated variant found in L1 syndrome; loss of localization at the cell surface; retention in the endoplasmic reticulum; loss of homophilic interactions at the cell surface [UniProt]	No	UniProt
TCGA novel	41	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337264393 rs782819951	43	R>L		No	ClinGen ExAC gnomAD
rs782819951 CA10554660	43	R>Q		No	ClinGen ExAC gnomAD
rs1557093590 CA415140422	43	R>W		No	ClinGen gnomAD
rs367644081 CA10554657	44	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10554659 rs370782270	44	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10554655 rs370373282	45	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10554653 rs143684296	47	V>A		No	ClinGen ESP ExAC TOPMed
CA10554654 rs147251476	47	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs147251476 CA415140344	47	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA415140325 rs1557093565	49	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	53	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781924972 CA10554652	54	S>N		No	ClinGen ExAC gnomAD
CA16043181 rs1057517755 RCV000413431	57	C>Y		No	ClinGen ClinVar Ensembl dbSNP
rs886039404 RCV000255965	60	S>missing		No	ClinVar dbSNP
rs782092168 CA10554650	64	E>K		No	ClinGen ExAC gnomAD
VAR_078353	66	Q>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs1465205361 CA415139544	67	F>L		No	ClinGen TOPMed
rs1172761444 COSM1466648 CA415139517	68	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	69	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337264266 rs200996065	70	T>A		No	ClinGen Ensembl
CA10554629 rs782407054	70	T>K		No	ClinGen ExAC TOPMed gnomAD
CA415139419 rs782407054	70	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10554628 rs782163286	71	R>K		No	ClinGen ExAC gnomAD
rs1557093462 CA415139397	72	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415138622 rs1557093439	88	Q>*		No	ClinGen gnomAD
rs782178366 CA415138581 RCV000493177	89	S>*		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10554624 rs782384760	90	P>L		No	ClinGen ExAC
rs879950376 CA415138386	93	G>A		No	ClinGen Ensembl
CA10554621 rs369322647	96	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375000497 CA10554619	98	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs375000497 CA10554620	98	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781861107 CA10554617	99	G>S		No	ClinGen ExAC gnomAD
CA415138182 rs1239375900	100	N>K		No	ClinGen TOPMed
CA415138176 rs1459462593	101	N>Y		No	ClinGen TOPMed
rs1192196478 CA415138091	105	A>P		No	ClinGen TOPMed
CA10554616 rs782780120	106	Q>H		No	ClinGen ExAC gnomAD
rs1557093395 CA415138046	106	Q>R		No	ClinGen gnomAD
CA415137998 rs1267143652	107	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10554615 rs782151953	109	Q>H		No	ClinGen ExAC gnomAD
VAR_078354	109	Q>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
TCGA novel	110	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434074663 CA415137842	113	R>C		No	ClinGen TOPMed gnomAD
CA415137830 rs781908326	113	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10554613 rs782704314	116	A>G		No	ClinGen ExAC TOPMed gnomAD
rs796052697 VAR_078355	120	L>V	no effect on axon guidance activity, nor on synapse formation, when assayed in a heterologous system [UniProt]	No	UniProt dbSNP
rs1169318908 CA415137609	122	T>N		No	ClinGen TOPMed
rs1557093368 CA415137574	124	M>T		No	ClinGen gnomAD
CA415137589 rs1366669213	124	M>V		No	ClinGen TOPMed gnomAD
CA415137495 rs1387074915	127	E>D		No	ClinGen TOPMed
CA10554609 rs201978087	129	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10554607 rs782178903	131	M>I		No	ClinGen ExAC gnomAD
CA10554608 rs782416322	131	M>V		No	ClinGen ExAC gnomAD
rs1603276528 CA415137371	133	E>K		No	ClinGen Ensembl
VAR_078356	133	E>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs1305263894 CA415137111	134	G>A		No	ClinGen TOPMed
CA415137340 RCV000519281 rs1557093353	134	G>S		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	135	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415137079 rs1358848849	137	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	137	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_078357	138	W>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA10554590 rs781977792	139	P>T		No	ClinGen ExAC gnomAD
TCGA novel	140	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557093020 CA415136996	140	K>R		No	ClinGen gnomAD
rs782375245 CA10554589	142	T>S		No	ClinGen ExAC gnomAD
rs1557093013 CA415136935	143	V>M		No	ClinGen gnomAD
CA337263942 rs1043690256	145	P>S		No	ClinGen TOPMed gnomAD
CA10554587 rs199796566	146	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201210351 CA337263934	147	E>Q		No	ClinGen Ensembl
rs868924672 CA415136773	149	E>*		No	ClinGen Ensembl
TCGA novel	149	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1064796291 CA16621238 RCV000481510	151	G>E		No	ClinGen ClinVar Ensembl dbSNP
rs1557093000 CA415136521	160	P>S		No	ClinGen gnomAD
TCGA novel	161	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000498241 rs1557092994	168	R>missing		No	ClinVar dbSNP
rs1557092993 CA415136306	169	I>V		No	ClinGen gnomAD
VAR_078358	172	M>I	probable disease-associated variant found in a patient with L1 syndrome; loss of homophilic interactions at the cell surface; no effect on the localization at the cell surface [UniProt]	No	UniProt
CA337263929 rs202164138	175	K>Q		No	ClinGen gnomAD
CA10554555 rs782537495	180	K>R		No	ClinGen ExAC gnomAD
rs782698098 CA10554553	183	E>K		No	ClinGen ExAC gnomAD
VAR_078359	184	R>G	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs782070899 CA10554552 COSM256194	186	T>M	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782128918 CA10554549	187	M>I		No	ClinGen ExAC gnomAD
VAR_078360	187	M>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA415135792 rs1557092897	188	G>S		No	ClinGen gnomAD
rs1557092896 CA415135758	189	Q>R		No	ClinGen gnomAD
rs903859205 CA337263759	198	V>A		No	ClinGen Ensembl
CA415135480 rs1557092888	199	L>F		No	ClinGen gnomAD
CA10554544 rs202000092	211	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs202000092 CA337263738	211	A>T		No	ClinGen ExAC gnomAD
TCGA novel	211	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412886010 CA415135152	214	P>L		No	ClinGen TOPMed
rs1175408854 CA415135137	215	G>D		No	ClinGen TOPMed
TCGA novel	227	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10554537 rs369149142	228	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10554538 rs781866909	228	R>W		No	ClinGen ExAC gnomAD
rs782704341 CA337263729	231	A>T		No	ClinGen 1000Genomes gnomAD
CA415133528 rs1557092783	235	M>V		No	ClinGen gnomAD
rs1295843554 CA415133483	236	I>T		No	ClinGen TOPMed
CA337263601 rs200671590	238	R>K		No	ClinGen gnomAD
rs201642622 CA337263590	241	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10554520 rs373862446	241	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA337263586 rs888961715	243	L>I		No	ClinGen Ensembl
CA10554515 rs369976661	246	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs199543804 CA10554514	246	T>I		No	ClinGen 1000Genomes ExAC
CA415133292 rs782163019	248	S>F		No	ClinGen ExAC gnomAD
CA10554512 rs112170723	250	S>R		No	ClinGen ExAC gnomAD
rs1361825945 CA415133227	252	L>V		No	ClinGen TOPMed
CA415133206 rs1214679081 CA415133204	253	V>L		No	ClinGen TOPMed gnomAD
VAR_078361	254	A>D	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA415133114 rs1195960824	258	Q>E		No	ClinGen TOPMed
CA415133102 rs930427854	258	Q>H		No	ClinGen gnomAD
rs1557092748 CA415133065	260	L>F		No	ClinGen gnomAD
rs1236228477 CA415133058	261	V>L		No	ClinGen TOPMed
RCV000522968 CA415133019 rs1557092743	262	L>R		No	ClinGen ClinVar Ensembl dbSNP
rs1387424271 CA415132917	266	A>P		No	ClinGen TOPMed gnomAD
CA415132915 rs1387424271	266	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1557092729 CA415132904	266	A>V		No	ClinGen gnomAD
CA10554505 rs201737659	267	E>K		No	ClinGen ESP ExAC gnomAD
CA415132673 rs1557092627	271	T>M	Variant assessed as Somatic; 6.347e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1557092619 CA415132623	274	I>V		No	ClinGen gnomAD
CA415132570 rs1131691900 VAR_078362 RCV000492967	276	W>R	probable disease-associated variant found in L1 syndrome [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
CA10554482 rs372200840	278	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200386290 CA10554481	279	P>A		No	ClinGen ExAC gnomAD
TCGA novel	279	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415132479 rs1337250079	280	S>T		No	ClinGen TOPMed gnomAD
rs782196212 CA415132452	282	P>H		No	ClinGen ExAC TOPMed gnomAD
rs782196212 CA10554479	282	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782306978 CA10554480	282	P>S		No	ClinGen ExAC gnomAD
rs782600125 CA10554478	284	P>S		No	ClinGen ExAC gnomAD
rs201338637 CA10554477	286	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200402620 RCV000078743 CA220735	287	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10554475 rs781786625	289	T>I		No	ClinGen ExAC gnomAD
TCGA novel	294	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148990685 CA10554473	295	K>N		No	ClinGen ESP ExAC gnomAD
rs1557092581 CA415132144	296	T>A		No	ClinGen gnomAD
CA415132135 rs1322838292	297	L>V		No	ClinGen TOPMed
rs202074293 CA337263385	298	Q>E		No	ClinGen TOPMed gnomAD
TCGA novel	301	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201311640 CA337263383	304	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10554472 rs781838031	308	G>D		No	ClinGen ExAC gnomAD
rs1195564939 CA415131845	309	E>D		No	ClinGen TOPMed
COSM1117625 CA10554470 rs782130795	311	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10554469 rs200174417	311	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_078363	313	L>P	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA10554468 rs782423426	315	E>K		No	ClinGen ExAC gnomAD
rs782052935 CA10554467	316	N>S		No	ClinGen ExAC
rs781935859 CA10554466	317	S>L		No	ClinGen ExAC TOPMed gnomAD
CA415131667 rs1557092539	318	L>R		No	ClinGen gnomAD
rs1183479230 CA415131621	320	S>R		No	ClinGen TOPMed
rs1557092533 CA415131612	321	A>S		No	ClinGen gnomAD
CA10554465 rs201700814	321	A>V		No	ClinGen ExAC TOPMed gnomAD
CA415131602 rs868978717	322	R>Q		No	ClinGen TOPMed gnomAD
CA10554462 rs202057911	324	A>V		No	ClinGen ExAC gnomAD
rs1297423657 CA415131500	326	Y>S		No	ClinGen TOPMed
CA415131437 rs1557092508	330	E>K		No	ClinGen gnomAD
CA415131178 rs1557092439	337	H>D		No	ClinGen gnomAD
rs1262323671 CA415131059	341	S>R		No	ClinGen TOPMed
rs398123359 RCV000078725 CA220724	341	S>R		No	ClinGen ClinVar Ensembl dbSNP
CA415131053 rs1557092429	342	H>Y		No	ClinGen gnomAD
RCV000481500 rs1557092418	345	G>missing		No	ClinVar dbSNP
TCGA novel	345	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415130950 rs1181490318	346	P>L		No	ClinGen TOPMed gnomAD
rs1181490318 CA415130956	346	P>Q		No	ClinGen TOPMed gnomAD
rs147234859 CA10554440 COSM3390510	351	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA415130801 rs1557092403	353	D>E		No	ClinGen gnomAD
CA337263276 rs200320754	355	Q>H		No	ClinGen Ensembl
CA10554439 rs782287774	355	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1343518718 CA415130740	356	V>F		No	ClinGen TOPMed
CA337263275 rs201895576	363	E>G		No	ClinGen Ensembl
VAR_078364	366	W>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
TCGA novel	367	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_078365	369	N>K	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs200257341 CA337263246	371	I>F		No	ClinGen Ensembl
CA415130330 rs1569544810	373	V>M		No	ClinGen Ensembl
CA337263239 rs202070860	374	E>K		No	ClinGen Ensembl
rs1557092327 CA415130077	379	D>E		No	ClinGen gnomAD
rs1557092330 CA415130099	379	D>H		No	ClinGen gnomAD
CA337263156 rs781923678	380	Q>H		No	ClinGen TOPMed gnomAD
rs886041704 RCV000273260 CA10603709	382	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA337263155 rs1008875495	382	Y>D		No	ClinGen TOPMed gnomAD
CA10554418 rs782361186	383	R>W		No	ClinGen ExAC gnomAD
CA10554416 rs200187371	385	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1159888750 COSM1472245 CA415129959	385	Q>R	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10554415 rs201882430	386	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782570664 CA10554413	388	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10554412 rs782477425 COSM3939864 RCV001310753	394	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA415129695 rs1557092288	395	Q>H		No	ClinGen gnomAD
TCGA novel	395	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10554411 rs781830365 RCV000500893	396	P>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1029357679 CA337263144	399	T>A		No	ClinGen Ensembl
CA415129554 rs1370681893	401	V>M		No	ClinGen TOPMed
rs1222808372 CA415129511	402	T>I		No	ClinGen TOPMed
RCV000762681 CA415129515 rs1222808372	402	T>S		No	ClinGen ClinVar TOPMed dbSNP
rs1221618827 CA415129359	409	R>Q		No	ClinGen TOPMed gnomAD
COSM1117619 rs782132624 CA10554409	409	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1262433336 CA415129331	411	G>R		No	ClinGen TOPMed
rs782810182 CA10554407	412	L>V		No	ClinGen ExAC gnomAD
TCGA novel	416	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782331927 RCV000359762 CA10554405	417	A>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA415129147 rs1461651430	419	I>V		No	ClinGen TOPMed
rs200006286 CA10554403	421	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	422	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415128774 rs1569544779	423	Q>R		No	ClinGen Ensembl
VAR_078366	423	Q>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
TCGA novel	425	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337262899 rs781840649	428	I>V		No	ClinGen ExAC gnomAD
CA337262894 rs782779421	431	A>V		No	ClinGen ExAC gnomAD
TCGA novel	432	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782022197 CA337262885	433	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1603275529 CA415128558	433	N>S		No	ClinGen Ensembl
rs782427417 CA337262880	435	T>A		No	ClinGen ExAC gnomAD
rs1258143484 CA415128416	438	A>G		No	ClinGen TOPMed
RCV000174004 rs797044634 CA239475	439	V>A		No	ClinGen ClinVar Ensembl dbSNP
rs781994900 CA337262851	441	G>D		No	ClinGen ExAC gnomAD
CA415128347 rs1557092073	442	S>N		No	ClinGen gnomAD
rs1337777924 CA415128329	443	T>S		No	ClinGen TOPMed
CA10554398 rs201052754	449	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183679417 CA415128210	450	A>T		No	ClinGen TOPMed
CA415128206 rs1557092058	450	A>V		No	ClinGen gnomAD
CA415128173 rs1266106551	451	F>L		No	ClinGen TOPMed gnomAD
rs1557092043 CA415128096	457	S>G		No	ClinGen gnomAD
CA415128032 RCV000579131 rs1557092042	460	W>*		No	ClinGen ClinVar Ensembl dbSNP
CA10554371 RCV000996047 rs202175564	463	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA415126448 rs202175564	463	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1557091966 CA415126439	463	E>V		No	ClinGen gnomAD
rs1365107430 CA415126397	465	G>E		No	ClinGen TOPMed
rs201070961 CA415126391	466	T>A		No	ClinGen gnomAD
CA337262659 rs201070961	466	T>P		No	ClinGen gnomAD
CA415126390 rs201070961	466	T>S		No	ClinGen gnomAD
TCGA novel	468	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458461378 CA415126356	469	L>F		No	ClinGen TOPMed gnomAD
CA10554370 rs781835785	471	D>G		No	ClinGen ExAC gnomAD
rs1603275442 CA415126334 RCV000996046	471	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs1383401794 CA415126307	472	E>K		No	ClinGen TOPMed gnomAD
rs782516225 CA10554368	473	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	476	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382118373 CA415126200	477	Y>C		No	ClinGen TOPMed
VAR_078367	480	G>R	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs782047153 CA10554365	485	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10554364 rs781932866	489	A>T		No	ClinGen ExAC gnomAD
RCV000490194 rs1085307881	490	N>missing		No	ClinVar dbSNP
rs1557091928 CA415125963	490	N>S		No	ClinGen gnomAD
rs782102829 CA10554362	491	D>E		No	ClinGen ExAC gnomAD
rs1312463945 CA415125910	493	G>R		No	ClinGen TOPMed gnomAD
CA10554359 rs782155168	494	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782038855 CA415125872	494	R>P		No	ClinGen ExAC TOPMed gnomAD
CA415125883 rs782155168	494	R>S		No	ClinGen ExAC TOPMed gnomAD
CA415125842 RCV000494608 rs1131691964	495	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA415125827 rs1557091905	496	F>L		No	ClinGen gnomAD
rs868908099 CA415125797	499	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782313828 CA10554357	499	A>V		No	ClinGen ExAC gnomAD
TCGA novel	500	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415125758 rs1557091894	501	N>S		No	ClinGen gnomAD
CA415125617 rs1248415360	508	I>V		No	ClinGen TOPMed
CA415125587 rs1182039468	509	M>R		No	ClinGen TOPMed
CA415125598 rs1466083971	509	M>V		No	ClinGen TOPMed
rs782602312 CA10554355	511	N>K		No	ClinGen ExAC TOPMed gnomAD
rs782367931 CA10554354	516	D>H		No	ClinGen ExAC gnomAD
VAR_078369	516	D>Y	found in a patient with L1 syndrome; unknown pathological significance [UniProt]	No	UniProt
CA10554340 rs782104803	523	G>R		No	ClinGen ExAC gnomAD
rs141250221 CA10554339	525	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs782401498 VAR_078370 CA10554338	525	R>H	found in a patient with L1 syndrome; unknown pathological significance [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
TCGA novel	526	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415125096 rs1557091826	531	K>T		No	ClinGen gnomAD
rs1557091825 CA415125078	532	G>D		No	ClinGen gnomAD
rs782566779 CA10554337	535	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10554335 rs782210626	538	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10554334 rs782608461	543	F>S		No	ClinGen ExAC gnomAD
CA415124834 rs868976264	545	P>L		No	ClinGen Ensembl
CA415124839 rs782513182	545	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782513182 CA10554333	545	P>T		No	ClinGen ExAC TOPMed gnomAD
CA415124788 rs1248519634	548	Q>K		No	ClinGen TOPMed gnomAD
CA415124665 rs1557091788	554	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415124661 rs1557091785	554	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10554331 rs781845582	557	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415124606 rs781845582	557	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10554332 COSM1490657 rs782479917	557	G>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
COSM252572 rs782557004 CA10554330	558	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA415124571 rs1557091765	559	D>E		No	ClinGen gnomAD
rs782719825 CA10554328	568	K>E		No	ClinGen ExAC
CA415124222 rs1274181915	569	Y>H		No	ClinGen TOPMed
rs1557091670 CA415124204	570	F>L		No	ClinGen gnomAD
rs146005213 CA337262254	572	E>G		No	ClinGen ESP
rs185384091 CA10554311	574	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415124049 rs1569544745	575	R>G		No	ClinGen Ensembl
COSM1212932 CA10554309 rs199779713	575	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1206062430 CA415123824	584	S>N		No	ClinGen TOPMed gnomAD
rs782816280 CA10554307	586	Q>K		No	ClinGen ExAC gnomAD
rs199888009 CA337262202	587	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781802134 CA10554305	588	N>H		No	ClinGen ExAC TOPMed gnomAD
CA415123709 rs1557091643	588	N>S		No	ClinGen gnomAD
CA415123676 rs377470679 RCV000494118	589	Y>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs181210798 CA10554303	592	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10554302 rs781982718	593	A>V		No	ClinGen ExAC gnomAD
RCV000523553 rs1557091629	594	S>missing		No	ClinVar dbSNP
CA10554301 rs202107752	594	S>N		No	ClinGen ExAC TOPMed gnomAD
rs137940405 CA10554299 COSM3236236	596	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs782196802 CA10554297	599	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs530446601 CA337262136	600	V>M		No	ClinGen Ensembl
CA337262135 rs999744155	606	L>F		No	ClinGen Ensembl
rs1214205620	610	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	611	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247804341 CA415123078	611	S>N		No	ClinGen TOPMed
rs1557091552 CA415123008	614	P>L		No	ClinGen gnomAD
TCGA novel	616	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200076618 CA10554280	617	R>Q		No	ClinGen ExAC gnomAD
CA10554281 rs782727308	617	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782402322 CA10554278	619	V>G		No	ClinGen ExAC gnomAD
rs1442284391 CA415122922	619	V>L		No	ClinGen TOPMed
TCGA novel	621	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202145628 CA10554275	622	D>N		No	ClinGen ExAC TOPMed gnomAD
CA415122704 rs1557091521	629	S>N		No	ClinGen gnomAD
rs782367123 CA415122641	632	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10554272 rs199907198	632	R>H		No	ClinGen ExAC gnomAD
CA415122621 rs201496144	633	V>L		No	ClinGen ExAC gnomAD
COSM3939863 CA10554270 rs201496144	633	V>M	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA337261976 rs200643250	634	S>F		No	ClinGen gnomAD
VAR_078372	635	W>C	probable disease-associated variant found in L1 syndrome; loss of localization at the cell surface; retention in the endoplasmic reticulum; loss of transport into axons; loss of neurite outgrowth; loss of cell-cell adhesion [UniProt]	No	UniProt
TCGA novel	638	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10554268 rs150474450	642	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10554267 rs369812595	643	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1557091498 CA415122432	643	A>V		No	ClinGen gnomAD
TCGA novel	644	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_078373	645	I>P	probable disease-associated variant found in L1 syndrome; requires 2 nucleotide substitutions [UniProt]	No	UniProt
CA10554265 rs782783740	645	I>V		No	ClinGen ExAC gnomAD
rs112094935 CA337261833	655	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs200670743 CA337261832	657	M>K		No	ClinGen Ensembl
rs1557091406 CA415122199	657	M>V		No	ClinGen gnomAD
rs1557091382 CA415122161	660	E>A		No	ClinGen gnomAD
rs782503400 CA10554252	660	E>D		No	ClinGen ExAC gnomAD
rs200688598 CA10554253	660	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1557091377 RCV000519174	661	K>missing		No	ClinVar dbSNP
VAR_078374	662	W>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA10554251 rs782266378	664	S>T		No	ClinGen ExAC gnomAD
CA415122063 rs1307525333	666	G>D		No	ClinGen TOPMed
CA415122023 rs1557091372	669	P>T		No	ClinGen gnomAD
CA10554248 rs782725654	680	S>L		No	ClinGen ExAC gnomAD
CA415121835 rs1412295827	682	Y>C		No	ClinGen TOPMed
CA337261795 rs201371159	686	T>I		No	ClinGen ExAC TOPMed gnomAD
rs201371159 CA10554246	686	T>N		No	ClinGen ExAC TOPMed gnomAD
CA415121723 rs1557091340	688	R>K		No	ClinGen gnomAD
CA415121558 rs1557091310	699	E>K		No	ClinGen gnomAD
CA10554243 rs781918761	700	P>L		No	ClinGen ExAC gnomAD
rs1202515053 CA415121545	700	P>S		No	ClinGen TOPMed
rs782568205 CA10554242	702	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782568205 CA415121517	702	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781996108 CA10554241	703	V>F		No	ClinGen ExAC TOPMed gnomAD
rs781854922 CA10554239	708	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1199350685 CA415121462	708	V>F		No	ClinGen TOPMed
rs1199350685 CA415121458	708	V>I		No	ClinGen TOPMed
CA415121438 rs1557091280	709	T>I		No	ClinGen gnomAD
VAR_078375	714	P>S	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs1386982536 CA415121119	727	E>K		No	ClinGen TOPMed
rs781961123 CA10554224	730	N>I		No	ClinGen ExAC gnomAD
rs202207834 CA10554223	734	T>M		No	ClinGen ExAC TOPMed gnomAD
RCV000494635 rs1131691594 CA415120975	735	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1603274817 CA415120978	735	W>L		No	ClinGen Ensembl
rs781799927 CA415120910	737	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10554207 rs781799927	737	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1557091103 CA415120915	737	P>T		No	ClinGen gnomAD
CA415120886 rs1377869296	739	R>Q	Variant assessed as Somatic; 6.423e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1644729 VAR_030417 rs142424573 CA10554204	739	R>W	salivary_gland [Cosmic]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	740	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337261254 rs1003246109	742	D>E		No	ClinGen Ensembl
rs782198738	747	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782331627 CA10554200	748	V>A		No	ClinGen ExAC TOPMed gnomAD
CA415120737 rs1294548336	748	V>F		No	ClinGen TOPMed
CA16621230 RCV000483657 rs1064794855	750	Y>S		No	ClinGen ClinVar Ensembl dbSNP
CA10554199 rs782052039	751	R>H		No	ClinGen ExAC gnomAD
rs782400758 CA415120651	753	Q>H		No	ClinGen ExAC gnomAD
VAR_078376	754	W>R	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA337261134 rs948680832	755	R>C		No	ClinGen Ensembl
CA10554196 rs782367412	755	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA415120593 rs1268528988	756	P>H		No	ClinGen TOPMed
CA10554194 rs782352802	760	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_078377	760	R>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs782208250 CA10554193	761	G>E		No	ClinGen ExAC gnomAD
rs781942758 CA337261086	761	G>R		No	ClinGen 1000Genomes
CA415120506 rs1557091015	762	P>H		No	ClinGen gnomAD
rs1557091014 CA415120482	763	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA337261082 rs201982458	764	Q>K		No	ClinGen Ensembl
rs371871521 CA10554191	767	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA337261015 rs201645768	771	P>H		No	ClinGen gnomAD
CA415120353 rs201645768 COSM321330	771	P>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1183455686 COSM1117599 CA415120252	778	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA415120226 rs1557090994	780	T>I		No	ClinGen gnomAD
CA16608779 RCV000433806 rs369046420	781	F>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA10554188 rs200385894	782	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10554187 rs200385894	782	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA337260967 rs955180421	787	K>R		No	ClinGen Ensembl
CA337260955 rs267606395	789	Q>*		No	ClinGen Ensembl
rs1557090981 CA415120062	789	Q>R		No	ClinGen gnomAD
VAR_078378	789	Q>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs200605257 CA337260941 COSM611719	791	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1557090969 CA415118408	794	Q>H		No	ClinGen gnomAD
CA337260922 rs975377883	801	Q>E		No	ClinGen TOPMed gnomAD
CA10554184 rs782150715	803	T>A		No	ClinGen ExAC
CA10554183 rs201152225	804	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA415118121 rs1557090946	808	G>A		No	ClinGen gnomAD
CA16608745 rs782553641 RCV000441590	811	Y>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA10554171 rs782580207	811	Y>C		No	ClinGen ExAC gnomAD
VAR_078379	811	Y>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
TCGA novel	812	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	813	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1131691666 RCV000493415	814	A>missing		No	ClinVar dbSNP
TCGA novel	814	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10554168 rs782776836	816	P>S		No	ClinGen ExAC
CA415117600 rs1273221058	825	N>K		No	ClinGen TOPMed gnomAD
rs782502555 CA10554167	825	N>Y		No	ClinGen ExAC
CA415117523 rs1557090718	828	A>T		No	ClinGen gnomAD
CA10554166 rs781835959	829	V>A		No	ClinGen ExAC gnomAD
rs1340008516 CA415117503	829	V>M		No	ClinGen TOPMed gnomAD
CA10554164 rs201550159	834	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10554165 rs782716607	834	R>W	Variant assessed as Somatic; 6.248e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10554163 COSM1315333 rs781912495	835	P>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA415117219 rs1255091663	839	A>D		No	ClinGen TOPMed
rs782149002 CA10554161	839	A>P		No	ClinGen ExAC TOPMed gnomAD
CA415117119 rs1168067693	842	K>N		No	ClinGen TOPMed
rs899576865 CA337260465	844	H>Y		No	ClinGen Ensembl
CA415117038 rs1373663966	846	R>C		No	ClinGen TOPMed gnomAD
rs139621907 CA10554158	849	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1261509423 CA415116724	854	R>K		No	ClinGen TOPMed
CA337260257 rs1032992615	854	R>S		No	ClinGen Ensembl
CA415116696 rs1486944844	855	E>D		No	ClinGen TOPMed gnomAD
rs782581179 CA10554138	855	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1557090619 CA415116710	855	E>Q		No	ClinGen gnomAD
rs782357988 CA10554137	859	R>W		No	ClinGen ExAC gnomAD
TCGA novel	863	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001008335 rs1603274308	865	H>missing		No	ClinVar dbSNP
rs202067345 CA10554134	865	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202067345 CA10554135	865	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10554133 rs782282474	867	H>R		No	ClinGen ExAC gnomAD
rs145986413 CA10554132	869	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415116414 rs1557090594	870	H>R		No	ClinGen gnomAD
COSM1490656 rs1557090599 CA415116420	870	H>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV000193757 CA207463 rs797045675	872	V>L		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	874	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781844857 CA10554130	875	A>T		No	ClinGen ExAC gnomAD
CA10554129 rs782607820	876	N>S		No	ClinGen ExAC gnomAD
rs1603274283 CA415116059	883	S>R		No	ClinGen Ensembl
CA10554128 rs782458408	885	L>F		No	ClinGen ExAC
rs782814242 CA10554126	886	R>W		No	ClinGen ExAC TOPMed gnomAD
VAR_078380	891	Y>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
TCGA novel	894	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557090553 CA415115761	895	V>G		No	ClinGen Ensembl
rs781872904 CA10554125	897	A>T		No	ClinGen ExAC gnomAD
TCGA novel	898	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10554122 rs781951957	901	R>Q		No	ClinGen ExAC gnomAD
VAR_078381	901	R>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs200498723 CA337260134	903	S>L		No	ClinGen Ensembl
rs1223026440 CA415115600	905	P>L		No	ClinGen TOPMed
rs782505398 CA10554118	906	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337260096 rs201970675	907	S>N		No	ClinGen Ensembl
rs200799618 CA415115566	907	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199822230 CA10554116	908	E>K		No	ClinGen ExAC gnomAD
CA415115280 rs1394000955	919	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	923	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	925	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3406124 rs1557090439 CA415115055	930	S>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs141213959 COSM1117587 CA10554101	937	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA10554100 rs782089051	937	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1557090435 CA415114937	938	W>*		No	ClinGen gnomAD
CA10554099 rs782566102	939	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs782315098 CA10554098	940	P>S		No	ClinGen ExAC gnomAD
CA415114858 rs1557090425	942	L>I		No	ClinGen gnomAD
rs559818808 CA10554096	942	L>P		No	ClinGen ExAC gnomAD
rs782391071 CA10554095	944	H>P		No	ClinGen ExAC gnomAD
CA10554094 rs782249387	944	H>Q		No	ClinGen ExAC gnomAD
rs1375240951 CA415114794	945	N>I		No	ClinGen TOPMed
CA415114758 rs1302912544	947	V>L		No	ClinGen TOPMed gnomAD
COSM77984 CA415114763 rs1302912544	947	V>M	ovary central_nervous_system Variant assessed as Somatic; 6.854e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	948	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs886044872 RCV000292448 CA10605813	950	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA10554089 rs782558335	952	V>A		No	ClinGen ExAC gnomAD
CA415114634 rs1272516852	954	S>F		No	ClinGen TOPMed
CA415114614 rs1603274167	956	H>P		No	ClinGen Ensembl
CA415114607 rs1557090391	956	H>Q		No	ClinGen gnomAD
rs1557090384 CA415114594	957	P>L		No	ClinGen gnomAD
rs781875773 CA10554069	959	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA10554070 rs200465059	959	D>G		No	ClinGen 1000Genomes ExAC gnomAD
RCV000176265 rs398123364	960	E>missing		No	ClinVar dbSNP
CA415114443 rs1361339376	962	G>V		No	ClinGen TOPMed
rs1557090325 CA415114389	966	L>Q		No	ClinGen gnomAD
rs782781265 CA10554065	969	N>S		No	ClinGen ExAC gnomAD
CA10554064 rs782104287	971	R>Q		No	ClinGen ExAC gnomAD
RCV000413228 COSM219016 CA16043224 rs1057518490	971	R>W	pancreas large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1557090314 RCV000599167	973	P>missing		No	ClinVar dbSNP
rs782712766 COSM1557102 CA10554062	974	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA415114207 rs1320396543	976	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs998523939 CA337259827	977	T>A		No	ClinGen TOPMed gnomAD
rs1557090303 CA415114170	979	N>S		No	ClinGen gnomAD
CA415114161 rs1274129084	980	L>M		No	ClinGen TOPMed
CA10554060 rs782032678	981	T>I		No	ClinGen ExAC gnomAD
rs1557090288 CA415114134	982	D>G		No	ClinGen gnomAD
rs782121391 CA415114140	982	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10554058 rs782121391	982	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA415114096 rs1239927819	985	P>S		No	ClinGen TOPMed
CA415114089 rs1569544648	986	H>N		No	ClinGen Ensembl
CA10554056 rs372925986	988	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10554055 rs372925986	988	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781979227 CA10554057	988	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10554054 rs782573655	990	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10554053 rs782430495	990	R>H		No	ClinGen ExAC gnomAD
CA337259779 rs202235510	992	Q>H		No	ClinGen Ensembl
CA10554050 rs782499647	992	Q>R		No	ClinGen ExAC gnomAD
CA337259775 rs201106469	995	A>V		No	ClinGen 1000Genomes
TCGA novel	999	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337259756 rs888187370	1005	I>F		No	ClinGen Ensembl
CA415113788 rs201128366	1006	V>L		No	ClinGen ExAC TOPMed gnomAD
RCV000781491 rs1557090232 CA415113772	1007	R>G		No	ClinGen ClinVar dbSNP gnomAD
rs782143967 CA10554045	1007	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA415113775 rs1557090232	1007	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10554044 rs781861416	1008	E>K		No	ClinGen ExAC gnomAD
rs1557090157 CA415113501	1019	D>G		No	ClinGen gnomAD
rs916189296 CA337259636	1023	I>F		No	ClinGen Ensembl
RCV000578796 rs1557090143 CA415113404	1024	S>*		No	ClinGen ClinVar Ensembl dbSNP
CA337259622 rs200025182	1025	A>V		No	ClinGen Ensembl
CA337258326 rs200453445	1034	V>I		No	ClinGen TOPMed
CA10554028 rs782260124	1035	S>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1036	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782056540 CA337258271	1037	V>I		No	ClinGen Ensembl
rs1557090130 CA415111864	1040	E>K		No	ClinGen gnomAD
rs1285808993 CA415111601	1050	L>F		No	ClinGen TOPMed
CA10554027 rs782716369	1050	L>S		No	ClinGen ExAC TOPMed gnomAD
rs782180684 CA10554011	1057	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10554010 rs202064643	1060	G>R		No	ClinGen ExAC TOPMed gnomAD
rs782535616 CA10554009	1064	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
VAR_078383	1064	S>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA415111200 RCV000727583 rs1569544629	1067	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs782762799 CA10554008	1068	V>I		No	ClinGen ExAC gnomAD
rs2156928 CA337258022	1070	Y>D		No	ClinGen Ensembl
rs782490036 CA10554007	1071	N>K		No	ClinGen ExAC TOPMed gnomAD
VAR_078384	1071	N>del	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
rs781826722 CA10554006	1076	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_078385	1080	L>Q	probable disease-associated variant found in L1 syndrome [UniProt]	No	UniProt
CA415110772 rs1557090021	1085	D>G		No	ClinGen gnomAD
TCGA novel	1087	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868967332 CA337257979	1087	E>K		No	ClinGen Ensembl
rs782028200 CA10554003	1093	E>G		No	ClinGen ExAC gnomAD
rs1194343081 CA415110574	1094	R>T		No	ClinGen TOPMed gnomAD
rs374569140 CA10554001	1097	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782807254 CA10554002	1097	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781976136 CA10554000	1099	Q>R		No	ClinGen ExAC gnomAD
CA10553999 rs782353183	1100	M>I		No	ClinGen ExAC gnomAD
CA10553997 rs781932140	1101	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10553998 rs782210182	1101	A>T		No	ClinGen ExAC gnomAD
rs781932140 CA415110451	1101	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10553996 rs782422647	1105	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1108	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147688847 CA337257640	1109	R>G		No	ClinGen ESP TOPMed
TCGA novel	1109	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415110175 rs1257461912	1110	V>L		No	ClinGen TOPMed
CA415110129 rs1557089861	1112	L>F		No	ClinGen gnomAD
CA10553969 rs782513024	1115	A>S		No	ClinGen ExAC
rs1557089851 CA415110063	1115	A>V		No	ClinGen gnomAD
CA337257600 rs200163358	1118	A>T		No	ClinGen TOPMed gnomAD
rs782603167 CA10553967	1119	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1122	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557089836 CA415109866	1124	I>V		No	ClinGen gnomAD
rs1557089828 CA415109842	1125	G>S		No	ClinGen gnomAD
CA415109736 rs1416997426	1128	S>T		No	ClinGen TOPMed
rs140508235 CA10553965	1130	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA415109634 rs1363914541	1132	L>P		No	ClinGen TOPMed
rs782800477 CA10553964	1135	L>V		No	ClinGen ExAC gnomAD
rs151235801 CA337257546	1136	V>I		No	ClinGen ESP TOPMed gnomAD
rs782745640 CA10553961	1143	I>T		No	ClinGen ExAC
rs200798819 CA337257534 COSM206570	1145	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs952497509 CA337257533	1145	R>H		No	ClinGen TOPMed gnomAD
CA337257523 rs200590243	1149	G>R		No	ClinGen gnomAD
rs200590243 CA415109286	1149	G>S		No	ClinGen gnomAD
CA415109269 rs1391080419	1150	K>R		No	ClinGen TOPMed
TCGA novel	1150	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1153	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1153	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557089635 CA415108922	1157	E>D		No	ClinGen gnomAD
CA415108906 rs1569544583	1158	D>G		No	ClinGen Ensembl
rs1557089630 CA415108847	1161	V>E		No	ClinGen gnomAD
TCGA novel	1162	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1603273715 CA415108688	1165	A>D		No	ClinGen Ensembl
rs1557089621 CA415108647	1166	R>Q		No	ClinGen gnomAD
rs2064682269 RCV001310752	1167	P>L		No	ClinVar dbSNP
CA10553940 rs781987270	1174	G>S		No	ClinGen ExAC gnomAD
CA415107838 rs1557089371	1184	E>Q		No	ClinGen gnomAD
rs781784745 CA10553904	1190	S>N		No	ClinGen ExAC gnomAD
CA10553903 rs782678040	1191	S>R		No	ClinGen ExAC gnomAD
CA337256720 rs148687917	1191	S>T		No	ClinGen ESP TOPMed
rs1489518994 CA415107494	1195	L>V		No	ClinGen TOPMed gnomAD
rs1603273539 CA415107457	1196	N>D		No	ClinGen Ensembl
rs782086274 CA10553900	1196	N>K		No	ClinGen ExAC gnomAD
CA415107422 rs781814421 CA10553898	1197	G>R		No	ClinGen ExAC TOPMed gnomAD
CA415107401 rs1557089353 RCV000659185	1198	D>H		No	ClinGen ClinVar dbSNP gnomAD
rs1557089353 CA415107396	1198	D>N		No	ClinGen gnomAD
TCGA novel	1198	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10553897 rs782702177	1199	I>V		No	ClinGen ExAC gnomAD
rs782167954 CA10553896	1200	K>R		No	ClinGen ExAC gnomAD
rs373984208 CA337256638	1201	P>T		No	ClinGen ESP TOPMed
rs1557089337 CA415107037	1209	A>S		No	ClinGen gnomAD
rs781964622 CA415107027	1210	D>H		No	ClinGen ExAC gnomAD
COSM3800485 CA10553892 rs781964622	1210	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1557089328 CA415106797	1216	D>Y		No	ClinGen gnomAD
rs782191514 COSM1212935 CA10553890	1217	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA415106352 rs1361090114	1229	Y>*		No	ClinGen TOPMed
CA415106343 rs1557089307	1230	S>G		No	ClinGen gnomAD
rs1421379081 CA415106336	1230	S>N		No	ClinGen TOPMed
rs782638403 CA10553886	1233	K>R		No	ClinGen ExAC TOPMed gnomAD
CA415106132 rs1334167172	1236	E>A		No	ClinGen TOPMed
CA10553884 rs370546591	1237	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10553882 rs144089789	1238	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_030421	1239	G>E		No	UniProt
rs1209353621 CA415106041	1240	G>C		No	ClinGen TOPMed
CA337256576 rs201727195	1240	G>D		No	ClinGen TOPMed
TCGA novel	1241	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415105990 rs1557089260	1242	D>Y		No	ClinGen gnomAD
TCGA novel	1244	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415105886 rs1557089253	1246	A>D		No	ClinGen gnomAD
CA10553879 rs782139608	1246	A>P		No	ClinGen ExAC gnomAD
CA10553880 rs782139608	1246	A>T		No	ClinGen ExAC gnomAD
CA10553878 rs781854219	1247	T>A		No	ClinGen ExAC gnomAD
CA10553877 rs782755015	1247	T>I		No	ClinGen ExAC gnomAD
CA415105864 rs781854219	1247	T>P		No	ClinGen ExAC gnomAD
CA415105788 rs1557089249	1249	P>S		No	ClinGen gnomAD
CA10553876 rs201437669	1251	N>T		No	ClinGen ExAC gnomAD
TCGA novel	1252	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415105709 rs1257869290	1253	A>V		No	ClinGen TOPMed
rs200498314 CA10553874 COSM1117569	1254	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10553873 rs372990965	1255	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782017677 CA10553872	1255	A>V		No	ClinGen ExAC gnomAD
rs782235888 CA415105568 RCV000519922	1258	E>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD

5 associated diseases with P32004

[MIM: 307000]: Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)

Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by intellectual disability and enlarged brain ventricles. {ECO:0000269|PubMed:10797421, ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:12435569, ECO:0000269|PubMed:12514225, ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:20621658, ECO:0000269|PubMed:22344793, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:24155914, ECO:0000269|PubMed:7562969, ECO:0000269|PubMed:7762552, ECO:0000269|PubMed:7881431, ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:8401576, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:8929944, ECO:0000269|PubMed:9118141, ECO:0000269|PubMed:9195224, ECO:0000269|PubMed:9268105, ECO:0000269|PubMed:9521424, ECO:0000269|PubMed:9744477, ECO:0000269|PubMed:9832035}. Note=The disease is caused by variants affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793). {ECO:0000269|PubMed:22344793}.

[MIM: 303350]: MASA syndrome (MASA)

An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. {ECO:0000269|PubMed:10797421, ECO:0000269|PubMed:10805190, ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:16816908, ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:22344793, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:24155914, ECO:0000269|PubMed:26891472, ECO:0000269|PubMed:7562969, ECO:0000269|PubMed:7762552, ECO:0000269|PubMed:7881431, ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:7920660, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:9268105, ECO:0000269|PubMed:9300653, ECO:0000269|PubMed:9452110, ECO:0000269|PubMed:9521424, ECO:0000269|PubMed:9744477, ECO:0000269|PubMed:9832035}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 304100]: Agenesis of the corpus callosum, X-linked, partial (ACCPX)

A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. {ECO:0000269|PubMed:16650080}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by intellectual disability and enlarged brain ventricles. {ECO:0000269|PubMed:10797421, ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:12435569, ECO:0000269|PubMed:12514225, ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:20621658, ECO:0000269|PubMed:22344793, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:24155914, ECO:0000269|PubMed:7562969, ECO:0000269|PubMed:7762552, ECO:0000269|PubMed:7881431, ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:8401576, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:8929944, ECO:0000269|PubMed:9118141, ECO:0000269|PubMed:9195224, ECO:0000269|PubMed:9268105, ECO:0000269|PubMed:9521424, ECO:0000269|PubMed:9744477, ECO:0000269|PubMed:9832035}. Note=The disease is caused by variants affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793). {ECO:0000269|PubMed:22344793}.
An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. {ECO:0000269|PubMed:10797421, ECO:0000269|PubMed:10805190, ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:16816908, ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:22344793, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:24155914, ECO:0000269|PubMed:26891472, ECO:0000269|PubMed:7562969, ECO:0000269|PubMed:7762552, ECO:0000269|PubMed:7881431, ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:7920660, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:9268105, ECO:0000269|PubMed:9300653, ECO:0000269|PubMed:9452110, ECO:0000269|PubMed:9521424, ECO:0000269|PubMed:9744477, ECO:0000269|PubMed:9832035}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. {ECO:0000269|PubMed:16650080}. Note=The disease is caused by variants affecting the gene represented in this entry.

25 regional properties for P32004

Type	Name	Position	InterPro Accession
domain	Immunoglobulin subtype 2	48 - 121	IPR003598-1
domain	Immunoglobulin subtype 2	255 - 319	IPR003598-2
domain	Immunoglobulin subtype 2	345 - 411	IPR003598-3
domain	Immunoglobulin subtype 2	439 - 504	IPR003598-4
domain	Immunoglobulin subtype 2	530 - 598	IPR003598-5
domain	Immunoglobulin subtype	42 - 133	IPR003599-1
domain	Immunoglobulin subtype	143 - 230	IPR003599-2
domain	Immunoglobulin subtype	249 - 330	IPR003599-3
domain	Immunoglobulin subtype	339 - 422	IPR003599-4
domain	Immunoglobulin subtype	433 - 515	IPR003599-5
domain	Immunoglobulin subtype	524 - 609	IPR003599-6
domain	Fibronectin type III	612 - 712	IPR003961-1
domain	Fibronectin type III	715 - 810	IPR003961-2
domain	Fibronectin type III	812 - 916	IPR003961-3
domain	Fibronectin type III	918 - 1015	IPR003961-4
domain	Immunoglobulin-like domain	35 - 125	IPR007110-1
domain	Immunoglobulin-like domain	139 - 226	IPR007110-2
domain	Immunoglobulin-like domain	240 - 328	IPR007110-3
domain	Immunoglobulin-like domain	333 - 420	IPR007110-4
domain	Immunoglobulin-like domain	425 - 507	IPR007110-5
domain	Immunoglobulin-like domain	518 - 607	IPR007110-6
domain	Immunoglobulin I-set	338 - 411	IPR013098-1
domain	Immunoglobulin I-set	436 - 514	IPR013098-2
domain	Immunoglobulin I-set	519 - 608	IPR013098-3
domain	Neurofascin/L1/NrCAM, C-terminal domain	1144 - 1233	IPR026966

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cell projection, growth cone Cell projection, axon Cell projection, dendrite	Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons (By similarity) In neurons, detected predominantly in axons and cell body, weak localization to dendrites (PubMed:20621658)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
axonal growth cone	The migrating motile tip of a growing nerve cell axon.
cell surface	The external part of the cell wall and/or plasma membrane.
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
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.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
axon guidance receptor activity	Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance.
protein domain specific binding	Binding to a specific domain of a protein.

11 GO annotations of biological process

Name	Definition
axon development	The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation).
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell-matrix adhesion	The binding of a cell to the extracellular matrix via adhesion molecules.
chemotaxis	The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of axon extension	Any process that activates or increases the frequency, rate or extent of axon extension.
synapse organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell).

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q810U3	Nfasc	Neurofascin	Mus musculus (Mouse)	PR
P11627	L1cam	Neural cell adhesion molecule L1	Mus musculus (Mouse)	PR
Q62845	Cntn4	Contactin-4	Rattus norvegicus (Rat)	PR
Q62682	Cntn3	Contactin-3	Rattus norvegicus (Rat)	PR
Q05695	L1cam	Neural cell adhesion molecule L1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVVALRYVWP	LLLCSPCLLI	QIPEEYEGHH	VMEPPVITEQ	SPRRLVVFPT	DDISLKCEAS
70	80	90	100	110	120
GKPEVQFRWT	RDGVHFKPKE	ELGVTVYQSP	HSGSFTITGN	NSNFAQRFQG	IYRCFASNKL
130	140	150	160	170	180
GTAMSHEIRL	MAEGAPKWPK	ETVKPVEVEE	GESVVLPCNP	PPSAEPLRIY	WMNSKILHIK
190	200	210	220	230	240
QDERVTMGQN	GNLYFANVLT	SDNHSDYICH	AHFPGTRTII	QKEPIDLRVK	ATNSMIDRKP
250	260	270	280	290	300
RLLFPTNSSS	HLVALQGQPL	VLECIAEGFP	TPTIKWLRPS	GPMPADRVTY	QNHNKTLQLL
310	320	330	340	350	360
KVGEEDDGEY	RCLAENSLGS	ARHAYYVTVE	AAPYWLHKPQ	SHLYGPGETA	RLDCQVQGRP
370	380	390	400	410	420
QPEVTWRING	IPVEELAKDQ	KYRIQRGALI	LSNVQPSDTM	VTQCEARNRH	GLLLANAYIY
430	440	450	460	470	480
VVQLPAKILT	ADNQTYMAVQ	GSTAYLLCKA	FGAPVPSVQW	LDEDGTTVLQ	DERFFPYANG
490	500	510	520	530	540
TLGIRDLQAN	DTGRYFCLAA	NDQNNVTIMA	NLKVKDATQI	TQGPRSTIEK	KGSRVTFTCQ
550	560	570	580	590	600
ASFDPSLQPS	ITWRGDGRDL	QELGDSDKYF	IEDGRLVIHS	LDYSDQGNYS	CVASTELDVV
610	620	630	640	650	660
ESRAQLLVVG	SPGPVPRLVL	SDLHLLTQSQ	VRVSWSPAED	HNAPIEKYDI	EFEDKEMAPE
670	680	690	700	710	720
KWYSLGKVPG	NQTSTTLKLS	PYVHYTFRVT	AINKYGPGEP	SPVSETVVTP	EAAPEKNPVD
730	740	750	760	770	780
VKGEGNETTN	MVITWKPLRW	MDWNAPQVQY	RVQWRPQGTR	GPWQEQIVSD	PFLVVSNTST
790	800	810	820	830	840
FVPYEIKVQA	VNSQGKGPEP	QVTIGYSGED	YPQAIPELEG	IEILNSSAVL	VKWRPVDLAQ
850	860	870	880	890	900
VKGHLRGYNV	TYWREGSQRK	HSKRHIHKDH	VVVPANTTSV	ILSGLRPYSS	YHLEVQAFNG
910	920	930	940	950	960
RGSGPASEFT	FSTPEGVPGH	PEALHLECQS	NTSLLLRWQP	PLSHNGVLTG	YVLSYHPLDE
970	980	990	1000	1010	1020
GGKGQLSFNL	RDPELRTHNL	TDLSPHLRYR	FQLQATTKEG	PGEAIVREGG	TMALSGISDF
1030	1040	1050	1060	1070	1080
GNISATAGEN	YSVVSWVPKE	GQCNFRFHIL	FKALGEEKGG	ASLSPQYVSY	NQSSYTQWDL
1090	1100	1110	1120	1130	1140
QPDTDYEIHL	FKERMFRHQM	AVKTNGTGRV	RLPPAGFATE	GWFIGFVSAI	ILLLLVLLIL
1150	1160	1170	1180	1190	1200
CFIKRSKGGK	YSVKDKEDTQ	VDSEARPMKD	ETFGEYRSLE	SDNEEKAFGS	SQPSLNGDIK
1210	1220	1230	1240	1250
PLGSDDSLAD	YGGSVDVQFN	EDGSFIGQYS	GKKEKEAAGG	NDSSGATSPI	NPAVALE