ClinVar for Gene (Select 3910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3012960	NM_001105206.3(LAMA4):c.4958C>T (p.Thr1653Ile)	LAMA4 (T1653I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3012528	NM_001105206.3(LAMA4):c.3274G>A (p.Val1092Ile)	LAMA4 (V1085I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3005224	NM_001105206.3(LAMA4):c.4288-9C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3004369	NM_001105206.3(LAMA4):c.1365C>T (p.Ser455=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3001867	NM_001105206.3(LAMA4):c.2502C>T (p.Val834=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2996188	NM_001105206.3(LAMA4):c.5233T>C (p.Leu1745=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2992482	NM_001105206.3(LAMA4):c.2814G>A (p.Arg938=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2991498	NM_001105206.3(LAMA4):c.1852C>T (p.Gln618Ter)	LAMA4 (Q618* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2988824	NM_001105206.3(LAMA4):c.1544A>T (p.Asp515Val)	LAMA4 (D508V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2984808	NM_001105206.3(LAMA4):c.3364C>T (p.Leu1122Phe)	LAMA4 (L1115F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2983806	NM_001105206.3(LAMA4):c.3252C>T (p.Asp1084=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2983552	NM_001105206.3(LAMA4):c.4287+11A>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2982498	NM_001105206.3(LAMA4):c.4133+13T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2981327	NM_001105206.3(LAMA4):c.2089C>T (p.Arg697Cys)	LAMA4 (R690C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2981116	NM_001105206.3(LAMA4):c.4859A>G (p.Asn1620Ser)	LAMA4 (N1620S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2978442	NM_001105206.3(LAMA4):c.20G>T (p.Trp7Leu)	LAMA4, LAMA4-AS1 (W7L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2976434	NM_001105206.3(LAMA4):c.2194G>C (p.Gly732Arg)	LAMA4 (G732R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2976223	NM_001105206.3(LAMA4):c.2173+8T>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2973118	NM_001105206.3(LAMA4):c.3968+14C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2968628	NM_001105206.3(LAMA4):c.1908A>G (p.Glu636=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2968231	NM_001105206.3(LAMA4):c.297+11G>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2966926	NM_001105206.3(LAMA4):c.2207T>C (p.Leu736Pro)	LAMA4 (L729P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2965426	NM_001105206.3(LAMA4):c.2056+18C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2960043	NM_001105206.3(LAMA4):c.2471A>G (p.Gln824Arg)	LAMA4 (Q824R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2955682	NM_001105206.3(LAMA4):c.2693C>T (p.Ala898Val)	LAMA4, LOC126859766 (A898V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2918319	NM_001105206.3(LAMA4):c.3136C>T (p.Arg1046Trp)	LAMA4 (R1039W +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2914450	NM_001105206.3(LAMA4):c.2790C>T (p.Tyr930=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2912387	NM_001105206.3(LAMA4):c.2478A>C (p.Arg826Ser)	LAMA4 (R819S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2911493	NM_001105206.3(LAMA4):c.1668+8C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2910896	NM_001105206.3(LAMA4):c.889G>C (p.Gly297Arg)	LAMA4 (G290R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2910402	NM_001105206.3(LAMA4):c.1668+13G>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2910204	NM_001105206.3(LAMA4):c.268G>A (p.Glu90Lys)	LAMA4 (E90K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2908813	NM_001105206.3(LAMA4):c.1537C>G (p.Gln513Glu)	LAMA4 (Q506E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2908778	NM_001105206.3(LAMA4):c.1818-19A>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2902528	NM_001105206.3(LAMA4):c.1979C>T (p.Thr660Ile)	LAMA4 (T660I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2899359	NM_001105206.3(LAMA4):c.349T>C (p.Tyr117His)	LAMA4 (Y117H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2898770	NM_001105206.3(LAMA4):c.1545C>T (p.Asp515=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2893752	NM_001105206.3(LAMA4):c.5162C>T (p.Thr1721Ile)	LAMA4 (T1721I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2892988	NM_001105206.3(LAMA4):c.1135A>T (p.Asn379Tyr)	LAMA4 (N379Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2889338	NM_001105206.3(LAMA4):c.1747A>G (p.Ser583Gly)	LAMA4 (S576G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2888719	NM_001105206.3(LAMA4):c.2694A>C (p.Ala898=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign

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