AiPD: Autoinhibited Protein Database

P17661

Gene name	DES
Protein name	Desmin
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1674
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-103 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-103 (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

1 structures for P17661

Entry ID	Method	Resolution	Chain	Position	Source
AF-P17661-F1	Predicted				AlphaFoldDB

621 variants for P17661

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1057523274 RCV001217218 RCV000417495	1	M>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000056804 rs58999456 VAR_042448 CA217078 RCV000794180	2	S>I	Desmin-related myofibrillar myopathy MFM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
TCGA novel rs1954358233 RCV001037267	3	Q>*	Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
RCV001325781 rs1954358286	3	Q>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000693314 CA350682084 rs1214936508	6	S>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000730386 VAR_067207 rs903985237 CA65980518	7	S>F	MFM1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1196125127 RCV000651547 CA350682178	10	R>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs267607495 CA217069 RCV000154600 RCV000056800 RCV001061421	12	S>F	Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA261520 VAR_067208 RCV000056801 RCV001389153 RCV000037240 rs62636495	13	S>F	Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy MFM1; some patients manifest a severe cardiac phenotype with right ventricular predominance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001299265 rs1954359599 RCV003166680	13	S>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000730717 RCV000651549 CA350682283 rs62636495	13	S>Y	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs60798368 RCV000239680 VAR_079048 CA217072 RCV000056802	16	R>C	Myofibrillar myopathy MFM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1954360300 RCV001339441	17	T>N	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs936853024 RCV000595015 CA65980591 RCV000697037 RCV002350423	19	G>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000461350 rs759306707 CA16610716	20	G>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001057700 rs755107287	21	A>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV002478908 rs748158450 CA2125012 RCV000818028	22	P>R	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1575012966 RCV000799121 CA350682712	27	G>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002415673 rs727504877 RCV000766816 CA184448 RCV000700537 RCV000156244	27	G>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1378987625 RCV001056471 CA350682752	29	P>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA2125016 RCV000706663 CA350682844 RCV002499277 rs2017800 RCV001567889	31	S>R	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000809941 rs1575012999 CA350682911	35	F>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002489146 rs537881554 CA2125023 RCV000481772 RCV001203491	37	R>G	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1954363342 RCV001241290	37	R>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA2125022 RCV002494794 RCV000594311 rs537881554 RCV001217854 RCV000250161 RCV003114438	37	R>W	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001229880 rs1954364360	44	G>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_042449 rs60794845 RCV000056794 CA217055	46	S>F	MFM1; exhibits significantly delayed filament assembly kinetics when bound to NEB; enhanced binding affinity towards NEB [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA217053 rs60794845 VAR_042450 RCV000056793	46	S>Y	MFM1 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA308287 rs794728989 RCV002513952 RCV000183358	49	V>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs794728990 RCV000233855 RCV000766841 CA308290 RCV000183359 RCV000251066	52	R>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1393972560 CA350683452 RCV001236636	53	V>M	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000594634 RCV002483625 CA350683551 RCV002404609 rs1170549656 RCV001584405 RCV001242921	56	V>E	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA308293 RCV000467504 rs578066781 RCV000183360 RCV000617378 RCV002485225 RCV000766842	56	V>L	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000586931 RCV001142159 CA133832 RCV000037234 rs372825868 RCV000547047 RCV000621896 RCV001142158	57	S>L	Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001342935 rs773826073 CA2125035	59	T>M	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA350683705 rs1447436485 RCV002493600 RCV001305497	61	G>D	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs886044090 RCV000726280 CA10606335 RCV000686290 RCV002411171	62	G>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001052801 CA350683744 rs1345937895	63	A>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA133838 RCV000724220 RCV001137421 rs397516692 RCV001137423 RCV000037236 RCV000805979 RCV000515205	65	G>S	Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002422410 rs1320380570 CA350683798 RCV000651540	66	L>M	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA16610610 RCV000466056 rs933438188	70	R>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA068076 RCV000208029 RCV001297826 rs759235186	71	A>V	Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000463940 RCV002426827 rs375719734 CA238726 RCV001706118 RCV001798625 RCV001330866 RCV002265658 RCV000710118	72	S>R	Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000231650 CA10581946 rs752518966	73	R>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000707403 RCV000592338 CA2125038 RCV002431751 rs752518966	73	R>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001339002 rs1164195329	74	L>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV002477819 RCV000797371 rs1399282762	76	T>missing	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs769034192 RCV002456300 RCV001046462 RCV000591625 CA2125045 RCV002491191	77	T>A	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002478625 CA308301 RCV000824328 rs573916832	78	R>L	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001137425 RCV001137426 RCV002265945 rs1954368990 TCGA novel	83	Y>H	Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
RCV000724983 RCV000474215 rs200545412 CA175620 RCV000150379 RCV002426711	84	G>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001038112 rs1273708097 RCV002223970	86	G>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV002431698 RCV000559463 rs1267102255 CA350684687	90	D>H	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1954369708 RCV001342159	90	D>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001065410 rs1954369865	92	S>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs1163703259 RCV001321498 CA350684801	94	A>T	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1954370194 RCV001312754	95	D>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000991884 RCV001211572 rs201190593 CA10587549 RCV000253402	96	A>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs794728992 CA308304 RCV000183367 RCV000691921	99	Q>E	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001852351 RCV000183368 rs762738069 CA308307 RCV002433813	100	E>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001037011 CA350685014 rs1434605523	100	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000693246 CA350685125 rs1559352310	104	T>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs980849177 RCV001062011 CA65981069	104	T>M	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA308310 rs794728993 RCV002321729 RCV001211522	105	R>C	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1406795636 RCV001349290	105	R>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA350685197 rs1156440628 RCV001222980	107	N>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002489466 RCV001047253 CA350685213 rs62636490 COSM397707 RCV000991885	108	E>*	lung Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs1954371679 RCV001307562	108	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001232668 rs62636490 RCV002504955 CA217060 RCV000056796	108	E>K	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001317605 rs1954371825	109	K>E	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs1488426454 RCV002223286 RCV001216735 CA350685248 RCV002447090	109	K>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA2125052 rs373081285 RCV000484348 RCV001240419 RCV002323831	110	V>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
rs1954372144 RCV001071084	112	L>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs1553603239 RCV002265839	113	Q>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000651544 RCV000217696 CA10576588 rs267607499	116	N>I	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_069191 rs267607499 RCV001384253 CA217067 RCV000056799	116	N>S	Desmin-related myofibrillar myopathy MFM1; the clinical picture is dominated by arrhythmogenic right ventricular cardiomyopathy and terminal heart failure; results in impaired filaments formation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1954372615 RCV002341659 RCV001321596	117	D>H	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA350685460 RCV000535526 rs1188232371	118	R>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001059305 rs1954373010 VAR_075228	120	A>D	Desmin-related myofibrillar myopathy CMD1I; results in impaired filaments formation, does not localize at intercalated disks [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs794728996 RCV001852352 CA308328 RCV000183377	120	A>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001171066 CA350685550 RCV000757150 RCV001855888 RCV000852535 rs1400593451	122	Y>C	Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs747289875 RCV001853441 RCV000221238	123	I>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001228319 rs376048590 CA2125057	123	I>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA350685637 RCV000822267 rs564121737	124	E>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001220938 CA2125060 rs564121737	124	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs886043000 RCV000700283 RCV000261318 CA10604977	125	K>*	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs876657770 RCV000214253 RCV000820863 CA10576589	126	V>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs876657770 RCV001254769	126	V>M	Primary dilated cardiomyopathy [ClinVar]	Yes	ClinVar dbSNP
rs397516694 CA133847 RCV000852536 RCV000183371 RCV000037239 RCV000547988	127	R>P	Arrhythmogenic right ventricular cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000470564 CA2125062 RCV002489075 RCV000484887 rs771499260 RCV003168845	131	Q>K	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001380227 CA16610670 rs1060503165	132	Q>*	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA350685921 RCV001299339 RCV002504447 rs546741834	135	A>G	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002321829 RCV000725598 rs546741834 CA2125063 RCV001079455 RCV000217198	135	A>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002504889 RCV000726980 RCV000618538 CA133850 RCV000528546 RCV000037241 RCV001798112 rs397516695 RCV000735343	136	L>H	Cardiomyopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000491641 VAR_075229 rs397516695 CA350685955 RCV001701986	136	L>P	Dilated cardiomyopathy 1S CMD1I; results in impaired filaments formation, does not localize at intercalated disks [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10581947 rs775115627 RCV000229186	137	A>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000463745 rs763769862 CA16610612	139	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002265958 rs1419950518 CA350686089	143	L>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1954376231 RCV001217571	143	L>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA350686173 rs1553603267 RCV000651539	145	G>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000223735 CA10581142 rs876661344 RCV002223198 RCV001368093	150	R>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs755106109 CA2125071 RCV000685600	154	L>H	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001851408 RCV003222008 RCV002496945 RCV000504292 rs765471098 CA2125072	156	E>K	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1265299630 RCV001324483 CA350686483	157	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1457012198 RCV000697561 CA350686609	163	R>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1954378812 RCV001040305	163	R>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs1114167332 RCV000491577	165	Q>AS	Dilated cardiomyopathy 1S [ClinVar]	Yes	ClinVar dbSNP
CA350686692 rs1575013470 RCV002265924	167	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA350686786 rs1559352440 RCV000697545	172	Q>*	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001309772 CA2125074 RCV002486212 rs752944882 RCV002341621	173	R>S	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_009188	173	R>del	MFM1; severe form [UniProt]	Yes	UniProt
rs60538473 RCV002265560 RCV000056803	174	A>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV002261017 RCV000231969 CA10581948 rs878854472	175	R>H	Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV000435976 CA16604072 rs1057524813 RCV001861644	177	D>N	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002223226 CA350686999 RCV000535306 rs1297244198 RCV000770167 RCV003159921	181	D>H	Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000577988 rs1297244198 CA350686998 RCV002265808	181	D>N	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1954382461 RCV001060758	182	N>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs1575013561 RCV001759569 CA350687108 RCV000811768	186	D>E	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10581949 RCV000225879 rs878854473	186	D>Y	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA350687122 rs1248833348 RCV001211738	187	L>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000484309 rs1025323214 CA16617478 RCV000808258	189	R>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA350687147 RCV000700407 rs1223277151 RCV002343524 RCV003144550	189	R>W	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs727504448 RCV000155417 RCV002514995	201	K>missing	Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000811949 CA2125089 rs765376573	201	K>N	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000246738 RCV001538107 CA2125090 rs369495436 RCV001215575	203	E>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1575014034 RCV003145177 CA350689871 RCV000813689	204	A>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs373062962 RCV002265778 RCV000480868 RCV002367639 RCV001047516 CA16617479	208	L>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16610613 RCV000475550 rs1060503169	210	A>V	Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV002478626 CA308316 RCV001380936 rs781590560 RCV000183373	212	R>*	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM1016733 RCV000307432 CA181189 RCV000157163 RCV000725364 RCV001264391 RCV002362812 RCV001798502 rs144261171 RCV000154696 RCV000393436 RCV000229797 RCV000406154	212	R>Q	Myofibrillar Myopathy, Dominant Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy endometrium Left ventricular noncompaction cardiomyopathy [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs918962036 CA65982205 RCV000702212 RCV000522498	213	A>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000056805 RCV000203295 CA133860 RCV000250294 RCV001171067 RCV000313133 RCV000239721 RCV000367823 RCV000037245 VAR_042451 RCV001083932 rs41272699 RCV000263666	213	A>V	Myofibrillar Myopathy, Dominant Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Myofibrillar myopathy may play a role in cardiomyopathies and distal myopathies if combined with other DES mutations or mutations in other genes; does not affect the formation of a normal complete filamentous network [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002265985 rs1954409882	214	D>Y	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000620253 RCV000208223 CA078107 RCV000651548 RCV002467674 rs144908941 RCV002485357 RCV000725602	215	V>M	Primary familial hypertrophic cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000217963 RCV002363072 RCV001084978 RCV000726722 RCV000770168 CA2125118 rs144901249	219	T>I	Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002360950 CA2125119 RCV002495071 rs746814065 RCV000801036	221	A>V	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000379116 RCV000154697 CA181192 RCV001657879 RCV002362813 RCV000540698 RCV000260200 rs367961979 RCV000324508	222	R>H	Myofibrillar Myopathy, Dominant Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001037199 rs1954411290	224	D>H	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA2125125 RCV000468464 COSM1203410 rs767743962 RCV001809412	227	R>C	Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs141486420 COSM3782124 RCV001055164 RCV000727063 RCV002362941 CA308254 RCV002485223	227	R>H	Variant assessed as Somatic; 0.0 impact. pancreas Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA dbSNP gnomAD
RCV000651541 RCV003144447 CA2125129 rs764764823	232	L>F	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16610620 rs774739275 RCV000470148	234	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000795291 RCV000727164 CA133869 rs397516697 RCV000037248 RCV002482985	237	A>T	Variant assessed as Somatic; 0.0002316 impact. Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV003077014 COSM1405636 CA2125132 rs374144840	237	A>V	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001217690 rs1954413354	240	K>E	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_070101	240	K>del	MFM1; the mutant cannot form de novo desmin intermediate filaments causing disruption of the endogenous intermediate filament network and formation of pathologic aggregates [UniProt]	Yes	UniProt
CA350690647 RCV000523746 RCV001139744 RCV001853673 rs1410266369 RCV002481724 RCV002384016 RCV001139742	243	H>R	Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA308260 RCV000183347 RCV000473075 rs769647148 RCV002478624 RCV002381603	243	H>Y	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA217085 RCV002226454 VAR_042452 RCV002265590 RCV000056811 rs267607486	245	E>D	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy MFM1; exhibits significantly delayed filament assembly kinetics when bound to NEB and NEBL; enhanced binding affinity towards NEB and NEBL [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1575014243 CA350690679 RCV000800591	245	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1954417703 RCV001036926	246	E>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA2125154 rs772117708 RCV000701695 RCV001797133	248	R>C	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001351211 rs1256488465 CA350690760	249	E>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA350690869 RCV000689133 rs1559352926	254	L>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553603440 RCV000541620 CA350690914	256	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001211291 rs1954418582	257	Q>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000037252 rs147327878 RCV002408512 CA133873 RCV000711441 RCV001081604	262	E>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350691141 RCV001319629 rs1342331264	266	S>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000531257 RCV001529745 CA350691192 rs1434613160	268	P>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000408094 RCV001313664 rs770258461 CA10605026	273	A>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2125158 RCV001055491 RCV002482002 rs770258461	273	A>T	Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1459036752 RCV001338585	277	I>N	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001342240 RCV000183374 CA308319 rs761475402	278	R>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002433812 CA308263 rs794728985 RCV000183349 RCV000693194	278	R>W	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1954420895 RCV001297487	280	Q>H	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA2125164 rs750160975 RCV000693121	280	Q>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA10576590 RCV000221598 RCV000804446 rs876657771 COSM1016734	285	A>T	Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. endometrium haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs1368507241 RCV001171068 CA350691558 RCV001873578	285	A>V	Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000817146 CA65982804 rs981782522 RCV001256942	290	S>Y	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001337313 CA308266 RCV000183350 rs794728986	295	W>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000171830 RCV000735983 RCV000056814 rs62636491 RCV001142372 RCV001143228 RCV000466593 CA217093	298	S>L	Neurogenic scapuloperoneal syndrome, Kaeser type Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1224203630 RCV001322842 RCV002377405	302	D>E	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs148947510 RCV001085666 CA133886 RCV000243219 RCV000037258 RCV000725547	312	D>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001137622 RCV000475003 RCV000770171 rs34337334 CA133883 RCV000037257 RCV002265577 RCV000056815 RCV001137623 RCV001293064 RCV000245347	312	D>N	Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000219149 rs766252091 CA2125192 RCV000819601 RCV001570755 COSM1016735 RCV002444861	313	A>T	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs748742357 CA2125193 RCV003144448 COSM1565067 RCV000651543	315	R>C	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs771455648 RCV000401481 CA2125194 COSM1203411 RCV001373833 RCV002374483	315	R>H	Desmin-related myofibrillar myopathy large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA350692847 rs760197212 RCV000734711 RCV001855818	321	M>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001092431 rs959034410 RCV001382898	325	R>*	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000221526 RCV000807006 CA2125197 rs766035912	325	R>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_075230	326	H>R	CMD1I; unknown pathological significance; does not affect filaments formation [UniProt]	Yes	UniProt
CA308269 RCV000459000 RCV000183352 RCV001798637 rs794728987	326	H>Y	Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2125199 RCV002223889 RCV000622709 rs759320891 RCV002265821 RCV002385957 RCV002531873	329	Q>*	Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000468065 RCV000481645 rs1060503168 CA16610787	329	Q>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000479076 RCV001851216 rs1064795298 CA16617480	331	Y>N	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1954428602 RCV001208564	331	Y>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs368453327 RCV000697290 CA2125202	332	T>I	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000805331 CA350693188 rs1227068284	334	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001322764 rs1954429245	335	I>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001317907 rs1954429477	337	A>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000856836 VAR_007900 CA216997 rs59962885 RCV002265557 RCV000056762	337	A>P	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I MFM1; mild adult-onset; unable to form a functional filamentous network [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002429386 RCV000423698 RCV000695966 rs59962885 RCV002481307 CA2125204	337	A>T	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10581950 RCV000227930 rs57496341	338	L>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA216999 RCV000056763 RCV000796175 VAR_067209 rs57496341	338	L>R	Desmin-related myofibrillar myopathy MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1954429823 RCV001324651	339	K>N	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA350693394 RCV000696219 rs1559353118 RCV001766504	340	G>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA350693422 RCV001231848 rs1338606921	341	T>I	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs267607482 RCV000056764 CA217001 RCV001380949 VAR_042453	342	N>D	Desmin-related myofibrillar myopathy MFM1; unable to form a filamentous network; abolishes binding to MTM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs763903197 RCV002503715 RCV000726231 CA308272 RCV000651546	343	D>N	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1954437523 RCV001039536	343	D>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA10606502 RCV000326408 rs886044226 RCV002519324	344	S>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000056765 VAR_009189 CA217003 RCV001044194 rs57639980	345	L>P	Desmin-related myofibrillar myopathy MFM1; distal onset; incapable of forming filamentous networks [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002487064 CA2125228 RCV002392690 rs778340812 RCV000230628	346	M>I	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002265873 CA350693785 rs1411703397	348	Q>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001225519 rs57965306	350	R>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs57965306 VAR_042454 RCV000651542 RCV000056767 RCV000018329 CA126906	350	R>P	Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Kaeser syndrome and MFM1; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits; may produce structural changes; forms subsarcolemmal aggregates [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000732254 RCV001067513 CA2125230 rs57965306 RCV002388369 RCV002477711	350	R>Q	Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000157164 CA133808 RCV000056766 rs62636492 RCV001039932 RCV000037224 RCV001250885	350	R>W	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Primary dilated cardiomyopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001218064 rs775085773 CA2125232	352	L>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs762808690 RCV002406675 RCV001784366 CA2125233 RCV000755704	355	R>*	Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs762808690 CA350693919 RCV000793550	355	R>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_042455 rs61368398 RCV000799745 CA217005 RCV000056768	355	R>P	Desmin-related myofibrillar myopathy MFM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA2125234 rs61368398 RCV002489074 RCV000480721 RCV000456946 COSM1016736	355	R>Q	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000239682 VAR_042456 rs58898021 RCV000056769 CA217007	357	A>P	Myofibrillar myopathy MFM1; unable to polymerize and form an intracellular filamentous network; abolishes binding to MTM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002274893 RCV000056770 rs58409037	359	E>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_018769	359	E>del	MFM1 [UniProt]	Yes	UniProt
RCV002265558 rs121913000 VAR_007901 CA257642	360	A>P	Desmin-related myofibrillar myopathy MFM1; heterozygous with I-393 gives a severe childhood-onset; unable to form a functional filamentous network in the presence of I-393; abolishes binding to MTM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs141592925 RCV002418949 RCV002486230 RCV003166796 CA2125236 RCV001314645	360	A>V	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002265918 rs1575014889	364	Q>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001349920 RCV003145601 CA350694116 RCV003169728 rs1224165687	364	Q>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000056771 RCV001316353 rs58687088	366	N>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_018770	366	N>del	MFM1 [UniProt]	Yes	UniProt
RCV001303801 rs62636494 CA2125239	367	I>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000595412 rs1480755998 RCV000796751 CA350694218	367	I>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001049965 CA2125241 RCV003145294 RCV002429640 rs371830218	368	A>V	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV002438526 rs1475674849 RCV002491167 RCV000706363 RCV000590176 CA350694256	369	R>C	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA217018 RCV000056773 rs59308628 RCV001043598 VAR_042457	370	L>P	Desmin-related myofibrillar myopathy MFM1; unable to polymerize and form an intracellular filamentous network; does not affect binding to MTM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001058783 CA2125245 rs780628142	373	E>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP ClinGen ExAC gnomAD
RCV001256941 RCV002485224 RCV001580010 rs375218723 CA308275 RCV000544077	375	R>W	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Dilated cardiomyopathy 1A [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1575014943 RCV000794311	378	K>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA2125247 RCV001042104 rs779749720	381	M>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1954441688 RCV001236253	382	A>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001528706 RCV001043088 CA2125248 rs748945548	383	R>C	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001071277 RCV000596564 RCV002456298 RCV002476290 rs1292042317 CA350694581	383	R>H	Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1292042317 RCV001059163 CA350694585	383	R>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002265824 rs1553603566 CA350694607	384	H>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA217023 rs57955682 RCV002265562 VAR_018771 RCV000056775	385	L>P	Desmin-related myofibrillar myopathy MFM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10581951 RCV000234622 rs865961434	387	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001592862 rs1559353314 RCV000686082	387	E>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA217025 rs121913004 RCV000056776 VAR_018772 RCV002265563	389	Q>P	Desmin-related myofibrillar myopathy MFM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001307759 rs1954443135 RCV003145544	391	L>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001324035 rs1954443135	391	L>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000056778 RCV002265559 RCV003162255 CA217030 VAR_007902 rs121913001	393	N>I	Desmin-related myofibrillar myopathy MFM1; heterozygous with P-360 gives a severe childhood-onset; filamentous network is not affected however several spots indicate focal disorganization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
rs776786349 CA350694836 RCV000693973	394	V>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2125253 RCV000335144 RCV001441657 RCV001171071 rs776786349	394	V>M	Cardiomyopathy Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001234016 VAR_086534 CA65983670 rs796115330	398	L>P	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy CMD1I; unknown pathological significance; impaired subcellular localization [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
VAR_067210 RCV002265588 RCV000056779 rs61130669 CA217032	399	D>Y	Desmin-related myofibrillar myopathy MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001245293 rs1954444202	401	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
CA284671 RCV000056780 RCV001064294 VAR_067211 rs57694264	401	E>K	Desmin-related myofibrillar myopathy MFM1; results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1553603571 RCV001300566	402	I>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV002345640 rs1553603571 CA308278 RCV000802498	402	I>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000696661 rs886043080 RCV000283285	405	Y>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001313201 RCV000437250 RCV002488876 CA16604146 rs1057520275 RCV002356524	406	R>Q	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV001798009 RCV000056781 RCV000627795 VAR_042458 RCV001787806 rs121913003 CA257646	406	R>W	Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. MFM1; unable to form a filamentous network [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA350695023 rs1553603573 RCV000551956	407	K>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA352006 rs869025380 RCV000208408	412	E>K	Primary dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs61726467 CA350695103 RCV000792525	413	E>*	Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
rs1954445270 RCV001229059	413	E>G	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs61726467 RCV000685786 RCV000056782 CA284673	413	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1954445390 RCV001059576	415	R>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000770173 CA350695133 RCV002487571 rs1262288015 RCV001352202	415	R>Q	Cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000532526 RCV002265670 CA308281 RCV002492826 RCV002381604 RCV000656841 rs751942358	415	R>W	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376141178 CA2125277 RCV001243751	417	N>S	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002265825 rs1553603732 RCV001531343	419	P>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_069074 CA217034 RCV000817811 rs62635763 RCV000056783	419	P>S	Desmin-related myofibrillar myopathy Variant assessed as Somatic; impact. MFM1; found in a family with myofibrillar myopathy and arrhythmogenic right ventricular cardiomyopathy [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000546121 CA350696531 rs62635763	419	P>T	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs756613339 RCV000692846 CA2125279	421	Q>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000183357 RCV002515347 rs142712150 CA308284	427	N>S	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1954488237 RCV001238514	427	N>Y	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001321639 rs1954488513	429	R>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs150974575 CA273504 RCV001059931 RCV000327525 RCV002469028 RCV000154519	429	R>*	Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV002487276 rs200580581 CA2125285 RCV000694336 RCV000617457 RCV000357490	429	R>Q	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000208119 rs869025381 CA351781	433	P>T	Primary familial hypertrophic cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000795953 CA65986902 rs952020807	434	E>K	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10581952 rs878854471 RCV000228426	437	G>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA350698434 RCV000534573 rs1553603818	438	S>A	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA350698453 RCV000491627 rs1114167347 RCV000624503	439	E>K	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000695478 RCV000479938 CA16617481 rs1064796937	441	H>L	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001229432 rs751325263	441	H>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
rs121913005 RCV000811753 CA217036 VAR_042459 RCV000056784	442	T>I	Desmin-related myofibrillar myopathy MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV002386331 RCV001562308 RCV001248642 rs121913005 RCV002507336 CA350698515 RCV000770174	442	T>N	Cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000491144 rs1114167327 RCV002379098	444	K>*	Dilated cardiomyopathy 1S [ClinVar]	Yes	ClinVar dbSNP
rs267607498 RCV002483084 RCV001854165 RCV000056785 CA284676 RCV003162434	445	T>A	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_042461 RCV000056786 RCV000239724 rs267607485 CA217038 RCV001854166	449	K>T	Desmin-related myofibrillar myopathy Myofibrillar myopathy MFM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000482752 rs1064796352 RCV003168973 RCV002525928	449	K>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_042460	449	K>M	MFM1 [UniProt]	Yes	UniProt
RCV000698481 RCV000018318 RCV001140632 rs121913002 RCV002265561 VAR_018773 CA257644 RCV000056787	451	I>M	Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I CMD1I and MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions; reduced interaction with CRYAB [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1060503171 RCV000456554	452	E>missing	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_079049 RCV000056788 rs267607488 RCV001854167 CA217040	453	T>I	Desmin-related myofibrillar myopathy MFM1; exhibits significantly delayed filament assembly kinetics when bound to NEB and NEBL; enhanced binding affinity towards NEB and NEBL [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs541585670 RCV000171885 CA302358 RCV001852085	454	R>Q	Variant assessed as Somatic; 0.0 impact. Desmin-related myofibrillar myopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV000844627 RCV000155027 VAR_042462 RCV000498999 RCV000056789 RCV002381360 CA217043 rs267607490 RCV000684771	454	R>W	Primary familial hypertrophic cardiomyopathy Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions; increased interaction with CRYAB [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA133826 RCV000037231 RCV001852772 rs397516690	456	G>R	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000307505 RCV001084307 RCV000366607 RCV000271115 COSM42845 RCV000037232 RCV000056791 CA217048 rs73991549 RCV000248138 RCV000770175 RCV000172744	459	V>I	Myofibrillar Myopathy, Dominant Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy central_nervous_system Primary dilated cardiomyopathy [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000056792 VAR_042463 CA217051 rs267607491	460	S>I	MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000471643 RCV001770353 CA16610673 rs1060503170	462	A>E	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000171886 RCV002390410 rs397516691 CA237073 RCV003105808	468	E>D	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16610675 rs1060503172 RCV000473464	470	L>F	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1954528633 RCV001220826	470	L>P	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000296486 CA10606626 rs886044329 RCV000810748	471	L>Q	Desmin-related myofibrillar myopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1231213195 CA350682020	4	A>G		No	ClinGen gnomAD
rs1239304442 CA350682006	4	A>T		No	ClinGen TOPMed
rs1322222685 CA350682066	5	Y>*		No	ClinGen gnomAD
rs1214936508 CA350682092	6	S>*		No	ClinGen gnomAD
CA2125003 rs752174050	8	S>G		No	ClinGen ExAC gnomAD
RCV000334577 CA10606821 rs886044488	9	Q>E		No	ClinGen ClinVar Ensembl dbSNP
rs1196125127 CA350682181	10	R>C		No	ClinGen TOPMed gnomAD
rs1196125127 CA350682182	10	R>G		No	ClinGen TOPMed gnomAD
CA2125004 rs757839952	10	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350682204 rs1475120487	11	V>M		No	ClinGen TOPMed gnomAD
CA2125005 rs768075842	12	S>P		No	ClinGen ExAC gnomAD
rs750819338 CA2125006	14	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA2125008 rs756390565	15	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2125007 rs756390565	15	R>G		No	ClinGen ExAC TOPMed gnomAD
CA65980589 rs962731426	15	R>H		No	ClinGen TOPMed
CA16622111 rs756390565	15	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1342928312 CA350682380	17	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	19	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749447320 CA2125009	21	A>T		No	ClinGen ExAC gnomAD
CA2125010 rs755107287	21	A>V		No	ClinGen ExAC gnomAD
CA350682577 rs748158450	22	P>L		No	ClinGen ExAC gnomAD
rs3903257 CA350682602	23	G>A		No	ClinGen ExAC gnomAD
CA2125014 rs3903257	23	G>D		No	ClinGen ExAC gnomAD
CA65980613 rs3903257	23	G>V		No	ClinGen ExAC gnomAD
rs1318299 RCV000154433	25	P>=		No	ClinVar dbSNP
rs745708897 CA2125015	25	P>Q		No	ClinGen ExAC
rs1485482974 CA350682642	25	P>S		No	ClinGen gnomAD
RCV000478316 rs1064796529 CA16617476 RCV000766356	26	L>H		No	ClinGen ClinVar dbSNP gnomAD
rs2017800 RCV000154434	31	S>=		No	ClinVar dbSNP
RCV000592042 CA350682818 rs1553603207	31	S>C		No	ClinGen ClinVar Ensembl dbSNP
CA65980645 rs892698652	31	S>N		No	ClinGen gnomAD
CA10604899 rs886042942 RCV000355468	33	P>S		No	ClinGen ClinVar Ensembl dbSNP
CA2125019 rs761354307	34	V>M		No	ClinGen ExAC
CA2125020 rs768166041	35	F>L		No	ClinGen ExAC gnomAD
CA2125021 rs750861089	36	P>R		No	ClinGen ExAC gnomAD
TCGA novel	36	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779049308 CA2125026	38	A>E		No	ClinGen ExAC
CA2125025 rs755197219	38	A>T		No	ClinGen ExAC gnomAD
CA2125028 rs781231410	39	G>D		No	ClinGen ExAC gnomAD
rs758434755 CA2125027	39	G>S		No	ClinGen ExAC gnomAD
rs745773759 CA2125029	41	G>S		No	ClinGen ExAC gnomAD
CA350683108 rs1575013026	42	S>T		No	ClinGen Ensembl
CA65980741 COSM359637 rs868515320	42	S>Y	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs397516689 CA133823 RCV000037230	43	K>E		No	ClinGen ClinVar Ensembl dbSNP
rs1064794869 RCV000478404 CA16617477	44	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs79060489 CA65980788	47	S>G		No	ClinGen Ensembl
rs749028181 CA2125032	47	S>R		No	ClinGen ExAC gnomAD
rs1204239180 CA350683367	49	V>M		No	ClinGen gnomAD
CA2125033 rs768441697	50	T>S		No	ClinGen ExAC gnomAD
CA350683428 rs1372689272	52	R>P		No	ClinGen gnomAD
CA350683526 rs1174039524	55	Q>H		No	ClinGen TOPMed gnomAD
rs1424589081 CA350683641	59	T>A		No	ClinGen gnomAD
CA65980872 rs868853251	60	S>L		No	ClinGen Ensembl
rs760109356 CA2125036	62	G>E		No	ClinGen ExAC gnomAD
CA350683763 rs1345937895	63	A>V		No	ClinGen TOPMed gnomAD
rs397516692 CA350683786	65	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350683839 rs1252919776	67	G>A		No	ClinGen gnomAD
CA2125037 rs753419517	67	G>R		No	ClinGen ExAC TOPMed gnomAD
CA350683846 rs1449435594	68	S>T		No	ClinGen gnomAD
rs1200347906 CA350683882	69	L>P		No	ClinGen TOPMed gnomAD
CA350683894 rs933438188	70	R>Q		No	ClinGen TOPMed gnomAD
rs1474898050 CA350683931	71	A>T		No	ClinGen gnomAD
CA350684097 rs1164195329	74	L>P		No	ClinGen gnomAD
CA2125039 rs758281008	75	G>E		No	ClinGen ExAC gnomAD
rs1388457268 CA350684110	75	G>R		No	ClinGen gnomAD
CA2125042 rs756139205	76	T>I		No	ClinGen ExAC gnomAD
CA350684245 rs1392710887	77	T>I		No	ClinGen TOPMed
CA350684263 rs1276467459	78	R>C		No	ClinGen gnomAD
CA350684436 rs1358038961	82	S>F		No	ClinGen TOPMed gnomAD
CA350684416 rs1358038961	82	S>Y		No	ClinGen TOPMed gnomAD
CA2125047 rs761302314	87	E>*		No	ClinGen ExAC gnomAD
rs776158373 CA2125049	88	L>P		No	ClinGen ExAC gnomAD
rs1186920608 CA350684678	89	L>P		No	ClinGen TOPMed gnomAD
rs1391560909 CA350684826	94	A>V		No	ClinGen gnomAD
rs866095764 CA65981058	96	A>E		No	ClinGen Ensembl
CA350685107 rs1247648550	103	T>A		No	ClinGen gnomAD
CA350685159 rs1406795636	105	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs794728993 CA350685157	105	R>S		No	ClinGen gnomAD
rs1349417580 CA350685190	106	T>S		No	ClinGen gnomAD
CA350685299 RCV000788786 rs1575013251	111	E>G		No	ClinGen ClinVar Ensembl dbSNP
RCV000056797 rs267607497	113	Q>missing		No	ClinVar dbSNP
rs267607493 RCV000056798	114	E>missing		No	ClinVar dbSNP
TCGA novel	118	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753997202 CA2125055	118	R>H		No	ClinGen ExAC gnomAD
rs753997202 CA65981149	118	R>L		No	ClinGen ExAC gnomAD
rs794728996 CA350685493	120	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2125056 rs755196132	121	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1420567913 CA350685524	121	N>S		No	ClinGen gnomAD
CA308313 rs794728994 RCV000183370	122	Y>D		No	ClinGen ClinVar Ensembl dbSNP
CA350685554 rs1400593451	122	Y>F		No	ClinGen gnomAD
rs2666105 CA65981192	123	I>M		No	ClinGen ExAC gnomAD
rs1052541820 CA350685632	124	E>*		No	ClinGen gnomAD
rs1052541820 CA65981197	124	E>Q		No	ClinGen gnomAD
TCGA novel	125	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747443082 CA2125061	126	V>E		No	ClinGen ExAC gnomAD
rs868157645 CA65981208	127	R>C		No	ClinGen Ensembl
rs1233126553 CA350685772	129	L>M		No	ClinGen gnomAD
rs1456401747 CA350685844	132	Q>H		No	ClinGen TOPMed gnomAD
rs1249788415 CA350685835	132	Q>R		No	ClinGen gnomAD
rs935599151 CA65981215	133	N>H		No	ClinGen TOPMed
CA350685885 rs1180385837	134	A>T		No	ClinGen gnomAD
CA350685918 rs546741834	135	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1175707667 CA350685928	136	L>F		No	ClinGen gnomAD
rs775115627 CA2125064	137	A>V		No	ClinGen ExAC gnomAD
rs1398027713 CA350685989	138	A>T		No	ClinGen Ensembl
CA2125066 rs763769862	139	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1377068684 CA350686024	140	V>M		No	ClinGen gnomAD
rs1006008380 CA65981255	148	P>L		No	ClinGen Ensembl
CA350686272 rs1483655001	149	T>M		No	ClinGen TOPMed
rs1233455454 CA350686269	149	T>S		No	ClinGen gnomAD
TCGA novel	153	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350686378 rs1257218945	153	E>D		No	ClinGen gnomAD
rs1575013411 CA350686355	153	E>K		No	ClinGen Ensembl
CA350686394 rs753904474	154	L>F		No	ClinGen ExAC gnomAD
CA2125070 rs753904474	154	L>I		No	ClinGen ExAC gnomAD
rs1458306248 CA350686441	155	Y>*		No	ClinGen gnomAD
rs1435164351 CA350686516	158	E>K		No	ClinGen gnomAD
RCV000488926 rs1085307571 CA350686538	158	E>V		No	ClinGen ClinVar Ensembl dbSNP
rs1199768770 CA350686545	159	L>M		No	ClinGen gnomAD
rs1559352425 CA350686551 RCV000727946	159	L>P		No	ClinGen ClinVar Ensembl dbSNP
COSM1203407 CA350686563 rs1173534531	160	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA350686558 rs1464378565	160	R>W		No	ClinGen gnomAD
rs1401619117 CA350686579	161	E>G		No	ClinGen gnomAD
rs1226088032 CA350686570	161	E>K		No	ClinGen gnomAD
rs1457012198 CA350686610	163	R>P		No	ClinGen TOPMed gnomAD
TCGA novel	164	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	164	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386992791 CA350686655	165	Q>H		No	ClinGen gnomAD
CA350686649 rs1369044757	165	Q>R		No	ClinGen gnomAD
CA350686701 rs1277110592	167	E>D		No	ClinGen gnomAD
CA350686724 rs1338242031	169	L>F		No	ClinGen gnomAD
rs1575013478 CA350686754	170	T>I		No	ClinGen Ensembl
rs752944882 CA350686823	173	R>C		No	ClinGen ExAC TOPMed gnomAD
rs961874998 CA65981288	173	R>H		No	ClinGen gnomAD
rs538229035 CA2125076	174	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA350686844 rs1489472720	174	A>V		No	ClinGen gnomAD
CA350686857 rs1262737433	175	R>G		No	ClinGen gnomAD
CA350686874 rs1196268236	176	V>I		No	ClinGen TOPMed gnomAD
CA350686881 rs1196268236	176	V>L		No	ClinGen TOPMed gnomAD
CA350686897 rs1057524813	177	D>H		No	ClinGen TOPMed gnomAD
CA350686919 rs1423774114	178	V>I		No	ClinGen gnomAD
rs1286645209 CA350686939	179	E>K		No	ClinGen TOPMed
CA350686956 rs1432229838	179	E>V		No	ClinGen TOPMed
TCGA novel	180	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747420535 CA2125077	180	R>L		No	ClinGen ExAC gnomAD
CA350687045 rs1427822301	182	N>K		No	ClinGen TOPMed
rs1358211194 CA350687032	182	N>S		No	ClinGen TOPMed gnomAD
RCV000997673 CA350687038 rs1358211194	182	N>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1575013545 CA350687071	184	L>F		No	ClinGen Ensembl
rs1278644037 CA350687089	185	D>V		No	ClinGen gnomAD
CA350687095 rs878854473	186	D>N		No	ClinGen gnomAD
rs1226550858 CA350687104	186	D>V		No	ClinGen gnomAD
rs1025323214 CA350687152	189	R>L		No	ClinGen TOPMed gnomAD
CA350687166 rs1219019368	190	L>F		No	ClinGen gnomAD
CA350687172 rs1243057653	190	L>P		No	ClinGen gnomAD
rs1483093429 CA350687180	191	K>Q		No	ClinGen gnomAD
rs889191100 CA65981381	192	A>V		No	ClinGen TOPMed
CA2125085 rs761676074	195	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs761676074 CA2125086	195	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs773271116 CA2125087	198	I>T		No	ClinGen ExAC gnomAD
CA2125088 rs760744645	201	K>R		No	ClinGen ExAC gnomAD
rs1295010624 CA350689909	205	E>D		No	ClinGen TOPMed
TCGA novel	208	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373062962 CA2125093	208	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324998111 CA350690000	209	A>D		No	ClinGen TOPMed
RCV000658042 CA350689995 rs1553603386	209	A>P		No	ClinGen ClinVar Ensembl dbSNP
CA2125094 rs576601480	210	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs144908941 CA2125114	215	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778338200 CA2125115	216	D>G		No	ClinGen ExAC
rs771882136 CA2125117	217	A>E		No	ClinGen ExAC gnomAD
rs747805595 CA2125116	217	A>T		No	ClinGen ExAC gnomAD
rs771882136 CA350690203	217	A>V		No	ClinGen ExAC gnomAD
CA350690255 rs1441425291	220	L>V		No	ClinGen TOPMed
rs374687448 COSM210063 CA2125120	222	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs745847521 CA2125121	223	I>V		No	ClinGen ExAC gnomAD
rs1175610914 CA350690322	224	D>H		No	ClinGen TOPMed
rs761978219 CA2125123	226	E>K		No	ClinGen ExAC gnomAD
CA2125124 rs767743962	227	R>S		No	ClinGen ExAC TOPMed gnomAD
rs754350026 CA2125127	228	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1017140299 CA65982447	229	I>S		No	ClinGen Ensembl
rs1192099746 CA350690454	230	E>G		No	ClinGen TOPMed
CA2125130 rs752276536	233	N>D		No	ClinGen ExAC gnomAD
CA350690565 rs374144840	237	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs397516697 CA65982479 COSM333405	237	A>P	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350690558 rs397516697	237	A>S		No	ClinGen ExAC TOPMed gnomAD
VAR_069192 CA65982514 rs201945924	241	K>E	found in a patient with severe arrhythmogenic right ventricular cardiomyopathy also carrying a pathogenic frameshift mutation in PKP2 [UniProt]	No	ClinGen UniProt 1000Genomes dbSNP
rs57659464 RCV000056808	242	V>missing		No	ClinVar dbSNP
CA308257 rs794728984 RCV000183346	242	V>E		No	ClinGen ClinVar Ensembl dbSNP
CA350690627 rs1222934023	242	V>M		No	ClinGen TOPMed
CA350690662 rs1419335519	244	E>A		No	ClinGen gnomAD
rs1337952537 CA350690712	246	E>G		No	ClinGen gnomAD
rs144057476 CA2125153	246	E>K		No	ClinGen ESP ExAC
RCV000391221 rs375906682 CA2125155	248	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA350690747 rs375906682	248	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375906682 CA350690745	248	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187516594 CA350690834 COSM3709426	253	Q>*	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1007681126 CA65982690	254	L>F		No	ClinGen TOPMed gnomAD
rs1336006995 CA350690873	255	Q>E		No	ClinGen gnomAD
CA350690933 rs1269819085	257	Q>*		No	ClinGen TOPMed
CA350690975 rs1575014344	258	Q>H		No	ClinGen Ensembl
rs1575014346 CA350690979	259	V>I		No	ClinGen Ensembl
CA350690998 rs1346790382	260	Q>K		No	ClinGen gnomAD
CA350691040 rs1575014350	261	V>G		No	ClinGen Ensembl
TCGA novel	261	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457398926 CA350691126	265	M>T		No	ClinGen TOPMed gnomAD
CA350691117 rs1263537980	265	M>V		No	ClinGen TOPMed
rs1316058461 CA350691155	266	S>F		No	ClinGen TOPMed
rs776995850 CA2125156	271	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776995850 CA350691254	271	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	272	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267607494 RCV000056812 CA217087	274	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA217090 rs267607494 RCV000056813	274	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA65982767 rs994389035	275	R>G		No	ClinGen Ensembl
rs1390726004 CA350691346	276	D>A		No	ClinGen TOPMed
CA350691339 rs1436186019	276	D>N		No	ClinGen TOPMed
CA350691376 rs1459036752	277	I>T		No	ClinGen TOPMed
CA2125162 rs761475402	278	R>Q		No	ClinGen ExAC gnomAD
CA2125166 rs779875721	288	N>S		No	ClinGen ExAC gnomAD
rs981782522 CA350691733	290	S>F		No	ClinGen TOPMed
rs753745620 CA2125167	292	A>G		No	ClinGen ExAC gnomAD
CA350691833 rs1277539211	294	E>K		No	ClinGen gnomAD
rs146755676 CA65982808	295	W>*		No	ClinGen ESP
TCGA novel	300	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2125183 rs753655637	302	D>N		No	ClinGen ExAC gnomAD
rs752747277 CA2125186	306	A>T		No	ClinGen ExAC gnomAD
CA350692340 rs1162112869	306	A>V		No	ClinGen gnomAD
rs1386517123 CA350692378	308	N>D		No	ClinGen gnomAD
rs1386517123 CA350692374	308	N>H		No	ClinGen gnomAD
rs578191306 CA2125189	308	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2125187 rs375709017	308	N>S		No	ClinGen ESP ExAC TOPMed
rs771455648 CA2125195	315	R>L		No	ClinGen ExAC TOPMed gnomAD
CA350692672 rs1361605991	316	Q>K		No	ClinGen gnomAD
rs1442066273 CA350692746	318	K>Q		No	ClinGen TOPMed
rs1247063670 CA350692763	318	K>R		No	ClinGen gnomAD
TCGA novel	319	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA65982972 rs751348358 COSM1692040	320	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs760197212 CA2125196	321	M>K		No	ClinGen ExAC gnomAD
CA350692866 rs1575014592	322	M>L		No	ClinGen Ensembl
rs397516700 CA133889 RCV000037259	327	Q>P		No	ClinGen ClinVar Ensembl dbSNP
rs759320891 CA350693040	329	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs368453327 CA2125201	332	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA350693152 rs1444714450	333	C>R		No	ClinGen TOPMed gnomAD
CA350693196 rs1227068284	334	E>*		No	ClinGen TOPMed
TCGA novel	335	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350693289 rs531293539	336	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs59962885 CA350693316	337	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM719876 rs1429678305 CA350693697	344	S>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA350693756 rs1166025977	347	R>T		No	ClinGen gnomAD
TCGA novel	348	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2125229 rs747571500	348	Q>K		No	ClinGen ExAC gnomAD
CA350693789 rs1411703397	348	Q>L		No	ClinGen gnomAD
rs375005961 RCV000183375 CA350693825 CA308322	349	M>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA350693829 rs62636492	350	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs894789839 CA65983420	354	D>N		No	ClinGen Ensembl
CA65983425 rs61368398	355	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774411836 CA2125235	356	F>L		No	ClinGen ExAC gnomAD
rs867886253 CA65983466	357	A>V		No	ClinGen Ensembl
CA2125237 rs766531033	363	Y>*		No	ClinGen ExAC gnomAD
rs753995173 CA2125238	365	D>V		No	ClinGen ExAC gnomAD
CA350694194 rs1472005530	366	N>S		No	ClinGen TOPMed
rs62636494 RCV000056772 CA217015	367	I>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2125240 rs62636494	367	I>V		No	ClinGen ExAC TOPMed gnomAD
CA350694257 rs1168604493	369	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	370	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2125244 rs757792359	373	E>K		No	ClinGen ExAC TOPMed gnomAD
CA350694376 rs1227735671	374	I>M		No	ClinGen TOPMed
rs978282015 CA65983588	375	R>Q		No	ClinGen gnomAD
CA217020 RCV000056774 rs57404866	376	H>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1432061016 CA350694440	377	L>P		No	ClinGen gnomAD
RCV000171884 rs202010947 CA237070	378	K>T		No	ClinGen ClinVar Ensembl dbSNP
CA350694510 rs1283089074	380	E>D		No	ClinGen gnomAD
TCGA novel	381	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350694529 rs779749720	381	M>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	382	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318829886 CA350694567	382	A>V		No	ClinGen gnomAD
rs1393155504 CA350694622	385	L>V		No	ClinGen TOPMed
rs369765867 CA2125249 COSM3407593	386	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1029457073 CA65983597	386	R>H		No	ClinGen TOPMed gnomAD
rs794727789 RCV000179398 CA246640	389	Q>H		No	ClinGen ClinVar Ensembl dbSNP
rs62636493 RCV000056777 CA217027	392	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA2125252 rs121913001	393	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	395	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350694873 rs1177537950	396	M>V		No	ClinGen TOPMed
rs727502951 CA350694898	397	A>S		No	ClinGen ExAC TOPMed gnomAD
RCV000150382 rs727502951 CA175623	397	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs765293482 CA2125254	399	D>E		No	ClinGen ExAC gnomAD
rs1057520275 RCV001249249	406	R>L		No	ClinVar dbSNP
rs886041454 RCV000322209	408	L>missing		No	ClinVar dbSNP
RCV000037228 CA133817 rs397516687	409	L>P		No	ClinGen ClinVar Ensembl dbSNP
RCV000287300 rs796667045 CA10605881	419	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA65985433 rs796667045	419	P>R		No	ClinGen Ensembl
CA350696558 rs1427557970	420	I>L		No	ClinGen gnomAD
CA65985438 rs948600065 COSM1186124	420	I>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	423	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000274998 rs886042791 CA10604688	424	S>F		No	ClinGen ClinVar Ensembl dbSNP
rs753305257 CA2125281	425	A>P		No	ClinGen ExAC gnomAD
CA2125282 rs754592742	426	L>F		No	ClinGen ExAC TOPMed gnomAD
CA350696731 rs142712150	427	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2125284 rs758247019	428	F>V		No	ClinGen ExAC gnomAD
rs200580581 CA350696795	429	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200580581 CA2125286	429	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1042793960 CA65985559	430	E>K		No	ClinGen TOPMed
rs777575289 CA2125301	434	E>G		No	ClinGen ExAC gnomAD
CA65986916 rs985185092	436	R>S		No	ClinGen TOPMed gnomAD
CA350698412 rs572525055	437	G>C		No	ClinGen gnomAD
CA65986923 rs572525055	437	G>S		No	ClinGen gnomAD
CA308325 rs794728995 RCV000183376	442	T>A		No	ClinGen ClinVar Ensembl dbSNP
rs1158110985 CA350698530	443	K>R		No	ClinGen gnomAD
rs147803084 COSM1203408 CA2125303	445	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA350698628 rs1451982485	447	M>I		No	ClinGen gnomAD
rs1312957576 CA350698693	450	T>N		No	ClinGen gnomAD
rs1400200477 CA350698725	452	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2125306 rs778998180	455	D>N		No	ClinGen ExAC gnomAD
RCV000056790 rs267607496 CA217045	457	E>V		No	ClinGen ClinVar Ensembl dbSNP
CA350698927 rs762635412	458	V>F		No	ClinGen ExAC gnomAD
rs762635412 CA2125317	458	V>I		No	ClinGen ExAC gnomAD
rs756984927 CA2125318	462	A>D		No	ClinGen ExAC gnomAD
rs756984927 CA350699008	462	A>V		No	ClinGen ExAC gnomAD
rs1415077759 CA350699021	463	T>A		No	ClinGen gnomAD
CA350699035 rs1200509301	463	T>I		No	ClinGen gnomAD
rs267607487 CA217057 RCV000056795	469	V>M		No	ClinGen ClinVar Ensembl dbSNP
CA308298 rs794728991 RCV000183364	471	L>S		No	ClinGen ClinVar Ensembl dbSNP

3 associated diseases with P17661

[MIM: 601419]: Myopathy, myofibrillar, 1 (MFM1)

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269|PubMed:10545598, ECO:0000269|PubMed:10717012, ECO:0000269|PubMed:10905661, ECO:0000269|PubMed:11061256, ECO:0000269|PubMed:11668632, ECO:0000269|PubMed:12620971, ECO:0000269|PubMed:12766977, ECO:0000269|PubMed:14648196, ECO:0000269|PubMed:14711882, ECO:0000269|PubMed:14724127, ECO:0000269|PubMed:15495235, ECO:0000269|PubMed:15800015, ECO:0000269|PubMed:16009553, ECO:0000269|PubMed:16376610, ECO:0000269|PubMed:16865695, ECO:0000269|PubMed:17221859, ECO:0000269|PubMed:18061454, ECO:0000269|PubMed:19879535, ECO:0000269|PubMed:20829228, ECO:0000269|PubMed:22106715, ECO:0000269|PubMed:22395865, ECO:0000269|PubMed:23615443, ECO:0000269|PubMed:23687351, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:27733623, ECO:0000269|PubMed:28470624, ECO:0000269|PubMed:9697706, ECO:0000269|PubMed:9736733}. Note=The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269|PubMed:19879535}.

[MIM: 604765]: Cardiomyopathy, dilated 1I (CMD1I)

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10430757, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190, ECO:0000269|PubMed:30262925}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 181400]: Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)

Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269|PubMed:17439987, ECO:0000269|PubMed:25394388}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269|PubMed:10545598, ECO:0000269|PubMed:10717012, ECO:0000269|PubMed:10905661, ECO:0000269|PubMed:11061256, ECO:0000269|PubMed:11668632, ECO:0000269|PubMed:12620971, ECO:0000269|PubMed:12766977, ECO:0000269|PubMed:14648196, ECO:0000269|PubMed:14711882, ECO:0000269|PubMed:14724127, ECO:0000269|PubMed:15495235, ECO:0000269|PubMed:15800015, ECO:0000269|PubMed:16009553, ECO:0000269|PubMed:16376610, ECO:0000269|PubMed:16865695, ECO:0000269|PubMed:17221859, ECO:0000269|PubMed:18061454, ECO:0000269|PubMed:19879535, ECO:0000269|PubMed:20829228, ECO:0000269|PubMed:22106715, ECO:0000269|PubMed:22395865, ECO:0000269|PubMed:23615443, ECO:0000269|PubMed:23687351, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:27733623, ECO:0000269|PubMed:28470624, ECO:0000269|PubMed:9697706, ECO:0000269|PubMed:9736733}. Note=The disease is caused by variants affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269|PubMed:19879535}.
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10430757, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190, ECO:0000269|PubMed:30262925}. Note=The disease is caused by variants affecting the gene represented in this entry.
Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269|PubMed:17439987, ECO:0000269|PubMed:25394388}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P17661

Type	Name	Position	InterPro Accession
domain	Intermediate filament head, DNA-binding domain	9 - 106	IPR006821
conserved_site	Intermediate filament protein, conserved site	402 - 410	IPR018039
domain	Intermediate filament, rod domain	107 - 416	IPR039008

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, myofibril, sarcomere, Z line Cytoplasm Cell membrane, sarcolemma Nucleus Cell tip Nucleus envelope	Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190) Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity) PKP2 is required for correct anchoring of DES at the cell tip and nuclear envelope (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
cardiac myofibril	A cardiac myofibril is a myofibril specific to cardiac muscle cells.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
fascia adherens	A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes.
intercalated disc	A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.
intermediate filament	A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.
intermediate filament cytoskeleton	Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell.
neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
sarcolemma	The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

3 GO annotations of molecular function

Name	Definition
cytoskeletal protein binding	Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
identical protein binding	Binding to an identical protein or proteins.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

5 GO annotations of biological process

Name	Definition
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
intermediate filament organization	Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
muscle contraction	A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.
regulation of heart contraction	Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.
skeletal muscle organ development	The progression of a skeletal muscle organ over time from its initial formation to its mature state. A skeletal muscle organ includes the skeletal muscle tissue and its associated connective tissue.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P02545	LMNA	Prelamin-A/C	Homo sapiens (Human)	PR
P08670	VIM	Vimentin	Homo sapiens (Human)	PR
P41219	PRPH	Peripherin	Homo sapiens (Human)	PR
P14136	GFAP	Glial fibrillary acidic protein	Homo sapiens (Human)	PR
P14733	Lmnb1	Lamin-B1	Mus musculus (Mouse)	PR
P48678	Lmna	Prelamin-A/C	Mus musculus (Mouse)	PR
P21619	Lmnb2	Lamin-B2	Mus musculus (Mouse)	PR
P20152	Vim	Vimentin	Mus musculus (Mouse)	PR
P31001	Des	Desmin	Mus musculus (Mouse)	PR
P03995	Gfap	Glial fibrillary acidic protein	Mus musculus (Mouse)	PR
P70615	Lmnb1	Lamin-B1	Rattus norvegicus (Rat)	PR
P48679	Lmna	Prelamin-A/C	Rattus norvegicus (Rat)	PR
Q21065	ifa-3	Intermediate filament protein ifa-3	Caenorhabditis elegans	PR

10	20	30	40	50	60
MSQAYSSSQR	VSSYRRTFGG	APGFPLGSPL	SSPVFPRAGF	GSKGSSSSVT	SRVYQVSRTS
70	80	90	100	110	120
GGAGGLGSLR	ASRLGTTRTP	SSYGAGELLD	FSLADAVNQE	FLTTRTNEKV	ELQELNDRFA
130	140	150	160	170	180
NYIEKVRFLE	QQNAALAAEV	NRLKGREPTR	VAELYEEELR	ELRRQVEVLT	NQRARVDVER
190	200	210	220	230	240
DNLLDDLQRL	KAKLQEEIQL	KEEAENNLAA	FRADVDAATL	ARIDLERRIE	SLNEEIAFLK
250	260	270	280	290	300
KVHEEEIREL	QAQLQEQQVQ	VEMDMSKPDL	TAALRDIRAQ	YETIAAKNIS	EAEEWYKSKV
310	320	330	340	350	360
SDLTQAANKN	NDALRQAKQE	MMEYRHQIQS	YTCEIDALKG	TNDSLMRQMR	ELEDRFASEA
370	380	390	400	410	420
SGYQDNIARL	EEEIRHLKDE	MARHLREYQD	LLNVKMALDV	EIATYRKLLE	GEESRINLPI
430	440	450	460
QTYSALNFRE	TSPEQRGSEV	HTKKTVMIKT	IETRDGEVVS	EATQQQHEVL