ClinVar for Gene (Select 3910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368283	NM_001105206.3(LAMA4):c.5318G>C (p.Gly1773Ala)	LAMA4 (G1766A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368160	NM_001105206.3(LAMA4):c.50G>A (p.Trp17Ter)	LAMA4, LAMA4-AS1 (W17*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3366200	NM_001105206.3(LAMA4):c.249C>G (p.Asp83Glu)	LAMA4 (D83E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366077	NM_001105206.3(LAMA4):c.188_191delinsTGGT (p.Ala63_Ala64delinsValVal)	LAMA4, LAMA4-AS1	Indel (missense variant)	not provided	GUncertain significance
Select item 3365580	NM_001105206.3(LAMA4):c.1963G>A (p.Val655Met)	LAMA4 (V648M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364089	NM_001105206.3(LAMA4):c.2466T>G (p.Ile822Met)	LAMA4 (I815M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361400	NM_001105206.3(LAMA4):c.163G>A (p.Val55Met)	LAMA4 (V55M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360481	NM_001105206.3(LAMA4):c.3248C>A (p.Ala1083Asp)	LAMA4 (A1076D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352272	NM_001105206.3(LAMA4):c.1779T>G (p.His593Gln)	LAMA4 (H586Q +1 more)	Single nucleotide variant (missense variant)	LAMA4-related disorder	GUncertain significance
Select item 3347799	NM_001105206.3(LAMA4):c.1983A>T (p.Gln661His)	LAMA4 (Q654H +1 more)	Single nucleotide variant (missense variant)	LAMA4-related disorder	GUncertain significance
Select item 3343589	NM_001105206.3(LAMA4):c.3170A>C (p.Tyr1057Ser)	LAMA4 (Y1050S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343062	NM_001105206.3(LAMA4):c.667C>G (p.Arg223Gly)	LAMA4 (R223G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289961	NM_001105206.3(LAMA4):c.1079A>C (p.Glu360Ala)	LAMA4 (E360A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289960	NM_001105206.3(LAMA4):c.2689C>G (p.Leu897Val)	LAMA4, LOC126859766 (L897V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289957	NM_001105206.3(LAMA4):c.3891A>C (p.Gly1297=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289956	NM_001105206.3(LAMA4):c.5017G>T (p.Ala1673Ser)	LAMA4 (A1673S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289955	NM_001105206.3(LAMA4):c.2016C>G (p.Leu672=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289954	NM_001105206.3(LAMA4):c.4797T>C (p.Pro1599=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289953	NM_001105206.3(LAMA4):c.3810G>T (p.Gly1270=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289952	NM_001105206.3(LAMA4):c.4021G>T (p.Gly1341Trp)	LAMA4 (G1341W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289951	NM_001105206.3(LAMA4):c.5402A>T (p.His1801Leu)	LAMA4 (H1794L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289948	NM_001105206.3(LAMA4):c.190G>A (p.Ala64Thr)	LAMA4, LAMA4-AS1 (A64T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289947	NM_001105206.3(LAMA4):c.4071C>T (p.Gly1357=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289946	NM_001105206.3(LAMA4):c.5229T>C (p.Val1743=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289945	NM_001105206.3(LAMA4):c.4031A>G (p.Glu1344Gly)	LAMA4 (E1344G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289944	NM_001105206.3(LAMA4):c.1121G>T (p.Ser374Ile)	LAMA4 (S367I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289943	NM_001105206.3(LAMA4):c.1669-3T>C	LAMA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289942	NM_001105206.3(LAMA4):c.1573G>C (p.Glu525Gln)	LAMA4 (E525Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289941	NM_001105206.3(LAMA4):c.4401G>C (p.Glu1467Asp)	LAMA4 (E1467D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289940	NM_001105206.3(LAMA4):c.1037T>A (p.Met346Lys)	LAMA4 (M339K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289938	NM_001105206.3(LAMA4):c.2051_2052del (p.Glu684fs)	LAMA4 (E684fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289937	NM_001105206.3(LAMA4):c.8dup (p.Leu3fs)	LAMA4, LAMA4-AS1 (L3fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289936	NM_001105206.3(LAMA4):c.3970T>A (p.Tyr1324Asn)	LAMA4 (Y1324N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289935	NM_001105206.3(LAMA4):c.918C>T (p.Ala306=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289934	NM_001105206.3(LAMA4):c.4013C>T (p.Pro1338Leu)	LAMA4 (P1331L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289932	NM_001105206.3(LAMA4):c.4722C>T (p.Val1574=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289931	NM_001105206.3(LAMA4):c.1449T>A (p.Ala483=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289930	NM_001105206.3(LAMA4):c.2042C>T (p.Ala681Val)	LAMA4 (A681V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3289928	NM_001105206.3(LAMA4):c.405C>G (p.Pro135=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3289925	NM_001105206.3(LAMA4):c.1174A>G (p.Arg392Gly)	LAMA4 (R385G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3250454	NM_001105206.3(LAMA4):c.3158A>G (p.Asp1053Gly)	LAMA4 (D1046G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3222063	NM_001105206.3(LAMA4):c.93T>C (p.Ala31=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222062	NM_001105206.3(LAMA4):c.850C>T (p.Leu284=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222060	NM_001105206.3(LAMA4):c.5315del (p.Gly1772fs)	LAMA4 (G1765fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222059	NM_001105206.3(LAMA4):c.5284C>T (p.Pro1762Ser)	LAMA4 (P1755S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222058	NM_001105206.3(LAMA4):c.5272C>A (p.Leu1758Met)	LAMA4 (L1751M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222057	NM_001105206.3(LAMA4):c.5214A>G (p.Arg1738=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222056	NM_001105206.3(LAMA4):c.5069G>A (p.Ser1690Asn)	LAMA4 (S1683N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222055	NM_001105206.3(LAMA4):c.504-2A>G	LAMA4	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222054	NM_001105206.3(LAMA4):c.5004G>C (p.Leu1668Phe)	LAMA4 (L1661F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222053	NM_001105206.3(LAMA4):c.4788T>C (p.Gly1596=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222052	NM_001105206.3(LAMA4):c.4679G>C (p.Arg1560Pro)	LAMA4 (R1553P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222051	NM_001105206.3(LAMA4):c.455C>A (p.Ala152Asp)	LAMA4 (A152D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222050	NM_001105206.3(LAMA4):c.4540C>G (p.Gln1514Glu)	LAMA4 (Q1507E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222049	NM_001105206.3(LAMA4):c.4327G>A (p.Ala1443Thr)	LAMA4 (A1436T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222048	NM_001105206.3(LAMA4):c.4322C>T (p.Pro1441Leu)	LAMA4 (P1434L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222046	NM_001105206.3(LAMA4):c.3759C>T (p.Phe1253=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222044	NM_001105206.3(LAMA4):c.3704G>T (p.Arg1235Leu)	LAMA4 (R1228L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222043	NM_001105206.3(LAMA4):c.3643C>T (p.Leu1215=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222041	NM_001105206.3(LAMA4):c.3165C>G (p.Ser1055=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222040	NM_001105206.3(LAMA4):c.297+1G>T	LAMA4	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely benign
Select item 3222038	NM_001105206.3(LAMA4):c.2814-1G>A	LAMA4, LOC126859766	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222037	NM_001105206.3(LAMA4):c.2783C>G (p.Pro928Arg)	LAMA4, LOC126859766 (P921R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222036	NM_001105206.3(LAMA4):c.256G>A (p.Gly86Ser)	LAMA4 (G86S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222035	NM_001105206.3(LAMA4):c.246C>T (p.Cys82=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222034	NM_001105206.3(LAMA4):c.2466T>C (p.Ile822=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222033	NM_001105206.3(LAMA4):c.2385C>G (p.Leu795=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222032	NM_001105206.3(LAMA4):c.2297T>G (p.Leu766Arg)	LAMA4 (L759R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222030	NM_001105206.3(LAMA4):c.2233A>G (p.Thr745Ala)	LAMA4 (T738A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222029	NM_001105206.3(LAMA4):c.2201C>A (p.Ser734Tyr)	LAMA4 (S727Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222028	NM_001105206.3(LAMA4):c.2200T>C (p.Ser734Pro)	LAMA4 (S727P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222027	NM_001105206.3(LAMA4):c.2196G>C (p.Gly732=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222026	NM_001105206.3(LAMA4):c.1948C>T (p.Arg650Ter)	LAMA4 (R643* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 3222025	NM_001105206.3(LAMA4):c.189G>C (p.Ala63=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222024	NM_001105206.3(LAMA4):c.1907A>G (p.Glu636Gly)	LAMA4 (E629G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222023	NM_001105206.3(LAMA4):c.1590G>A (p.Val530=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222022	NM_001105206.3(LAMA4):c.1588G>A (p.Val530Met)	LAMA4 (V523M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222021	NM_001105206.3(LAMA4):c.1479C>T (p.Asp493=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222020	NM_001105206.3(LAMA4):c.1459G>C (p.Asp487His)	LAMA4 (D480H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222019	NM_001105206.3(LAMA4):c.134A>G (p.Gln45Arg)	LAMA4, LAMA4-AS1 (Q45R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222018	NM_001105206.3(LAMA4):c.1306T>C (p.Phe436Leu)	LAMA4 (F429L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222017	NM_001105206.3(LAMA4):c.1218G>A (p.Gly406=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3117489	NM_001105206.3(LAMA4):c.776G>C (p.Gly259Ala)	LAMA4 (G259A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3117487	NM_001105206.3(LAMA4):c.5269C>A (p.Pro1757Thr)	LAMA4 (P1750T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3117485	NM_001105206.3(LAMA4):c.3415A>C (p.Ile1139Leu)	LAMA4 (I1132L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3117484	NM_001105206.3(LAMA4):c.2599C>T (p.Pro867Ser)	LAMA4 (P860S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062886	GRCh37/hg19 6q21(chr6:112107860-113572662)x1	CCN6, FAM229B +4 more	Copy number loss	not specified	GUncertain significance
Select item 3061036	NM_001105206.3(LAMA4):c.4066G>A (p.Gly1356Ser)	LAMA4 (G1349S +1 more)	Single nucleotide variant (missense variant)	LAMA4-related disorder	GUncertain significance
Select item 3048899	NM_001105206.3(LAMA4):c.195+120C>G	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant +1 more)	LAMA4-related disorder	GLikely benign
Select item 3032158	NM_001105206.3(LAMA4):c.5067_5068del (p.His1689fs)	LAMA4 (H1682fs +1 more)	Microsatellite (frameshift variant)	LAMA4-related disorder	GUncertain significance
Select item 3030981	NM_001105206.3(LAMA4):c.195+39T>A	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant +1 more)	LAMA4-related disorder	GLikely benign
Select item 3021901	NM_001105206.3(LAMA4):c.2588T>G (p.Leu863Arg)	LAMA4 (L856R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3018731	NM_001105206.3(LAMA4):c.719-6C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3016060	NM_001105206.3(LAMA4):c.6T>A (p.Ala2=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3014870	NM_001105206.3(LAMA4):c.3864T>C (p.Asn1288=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3014828	NM_001105206.3(LAMA4):c.405C>T (p.Pro135=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3014280	NM_001105206.3(LAMA4):c.1585G>A (p.Val529Met)	LAMA4 (V529M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3013001	NM_001105206.3(LAMA4):c.717A>G (p.Ala239=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GUncertain significance

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