ClinVar for MedGen (Select 815265) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3776310	NM_001105206.3(LAMA4):c.2456G>A (p.Arg819Gln)	LAMA4 (R812Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3764572	NM_001105206.3(LAMA4):c.1520G>A (p.Arg507Lys)	LAMA4 (R500K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3730797	NM_001105206.3(LAMA4):c.60C>G (p.Ala20=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3728534	NM_001105206.3(LAMA4):c.1863G>A (p.Leu621=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3728494	NM_001105206.3(LAMA4):c.1140_1143del (p.His380fs)	LAMA4 (H373fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3725372	NM_001105206.3(LAMA4):c.2380C>T (p.Gln794Ter)	LAMA4 (Q787* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3722628	NM_001105206.3(LAMA4):c.3982_4018dup (p.Lys1340delinsSerArgTer)	LAMA4	Duplication (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3721632	NM_001105206.3(LAMA4):c.913del (p.Ala305fs)	LAMA4 (A298fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3721404	NM_001105206.3(LAMA4):c.2995C>T (p.Leu999=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3718644	NM_001105206.3(LAMA4):c.469T>C (p.Cys157Arg)	LAMA4 (C157R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3717952	NM_001105206.3(LAMA4):c.2979C>G (p.Leu993=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3717117	NM_001105206.3(LAMA4):c.2574C>G (p.Phe858Leu)	LAMA4 (F851L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3716427	NM_001105206.3(LAMA4):c.1123A>G (p.Met375Val)	LAMA4 (M375V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3715763	NM_001105206.3(LAMA4):c.1138C>T (p.His380Tyr)	LAMA4 (H373Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3714898	NM_001105206.3(LAMA4):c.4744_4746del (p.Thr1582del)	LAMA4 (T1575del +1 more)	Deletion	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3710691	NM_001105206.3(LAMA4):c.2170A>G (p.Arg724Gly)	LAMA4 (R717G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3710268	NM_001105206.3(LAMA4):c.3123C>T (p.Ala1041=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3710201	NM_001105206.3(LAMA4):c.4464T>C (p.Asp1488=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3708159	NM_001105206.3(LAMA4):c.1208T>G (p.Leu403Arg)	LAMA4 (L396R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3707971	NM_001105206.3(LAMA4):c.4476-15_4476-12del	LAMA4	Microsatellite (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3707092	NM_001105206.3(LAMA4):c.5207-16T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3706244	NM_001105206.3(LAMA4):c.1743C>A (p.Asn581Lys)	LAMA4 (N581K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3706233	NM_001105206.3(LAMA4):c.2308G>T (p.Asp770Tyr)	LAMA4 (D763Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 3705532	NM_001105206.3(LAMA4):c.718+18C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3705055	NM_001105206.3(LAMA4):c.811A>G (p.Ile271Val)	LAMA4 (I271V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3703568	NM_001105206.3(LAMA4):c.4499G>A (p.Arg1500Lys)	LAMA4 (R1500K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3698197	NM_001105206.3(LAMA4):c.2273A>G (p.Asn758Ser)	LAMA4 (N751S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3697347	NM_001105206.3(LAMA4):c.427G>A (p.Ala143Thr)	LAMA4 (A143T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3696758	NM_001105206.3(LAMA4):c.4300A>G (p.Lys1434Glu)	LAMA4 (K1427E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3695658	NM_001105206.3(LAMA4):c.1189+2T>C	LAMA4	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3695108	NM_001105206.3(LAMA4):c.1446T>G (p.Asn482Lys)	LAMA4 (N475K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3692680	NM_001105206.3(LAMA4):c.2715A>G (p.Val905=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3692155	NM_001105206.3(LAMA4):c.1005A>G (p.Arg335=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3690594	NM_001105206.3(LAMA4):c.2782C>G (p.Pro928Ala)	LAMA4, LOC126859766 (P928A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3690523	NM_001105206.3(LAMA4):c.3415-15T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3689428	NM_001105206.3(LAMA4):c.3194G>A (p.Arg1065Lys)	LAMA4 (R1065K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3684382	NM_001105206.3(LAMA4):c.4388C>G (p.Pro1463Arg)	LAMA4 (P1456R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3683341	NM_001105206.3(LAMA4):c.4821+8A>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3682349	NM_001105206.3(LAMA4):c.847G>C (p.Asp283His)	LAMA4 (D276H +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3681835	NM_001105206.3(LAMA4):c.4159G>T (p.Asp1387Tyr)	LAMA4 (D1380Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3678730	NM_001105206.3(LAMA4):c.2215G>C (p.Glu739Gln)	LAMA4 (E732Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3673970	NM_001105206.3(LAMA4):c.2592C>T (p.Tyr864=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 3672413	NM_001105206.3(LAMA4):c.1357+16T>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3672006	NM_001105206.3(LAMA4):c.3558-16T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3670710	NM_001105206.3(LAMA4):c.5073C>T (p.Val1691=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3670605	NM_001105206.3(LAMA4):c.4934T>C (p.Met1645Thr)	LAMA4 (M1638T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3669350	NM_001105206.3(LAMA4):c.2494-15G>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3667275	NM_001105206.3(LAMA4):c.2813+6G>C	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3666738	NM_001105206.3(LAMA4):c.1479C>A (p.Asp493Glu)	LAMA4 (D486E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3666697	NM_001105206.3(LAMA4):c.4232T>C (p.Leu1411Pro)	LAMA4 (L1404P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3666477	NM_001105206.3(LAMA4):c.4984G>T (p.Glu1662Ter)	LAMA4 (E1655* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3665190	NM_001105206.3(LAMA4):c.967-14A>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3664928	NM_001105206.3(LAMA4):c.4687A>T (p.Ser1563Cys)	LAMA4 (S1556C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3661150	NM_001105206.3(LAMA4):c.1089C>T (p.Ala363=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3660777	NM_001105206.3(LAMA4):c.4134-16T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3660202	NM_001105206.3(LAMA4):c.4508C>A (p.Ser1503Tyr)	LAMA4 (S1496Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3659653	NM_001105206.3(LAMA4):c.5292T>C (p.Asp1764=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3659488	NM_001105206.3(LAMA4):c.5206G>A (p.Val1736Ile)	LAMA4 (V1736I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3657228	NM_001105206.3(LAMA4):c.1894A>G (p.Asn632Asp)	LAMA4 (N632D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3654779	NM_001105206.3(LAMA4):c.422+1G>A	LAMA4	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3654531	NM_001105206.3(LAMA4):c.2144C>T (p.Ala715Val)	LAMA4 (A715V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3654053	NM_001105206.3(LAMA4):c.4821+5G>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3651796	NM_001105206.3(LAMA4):c.806C>A (p.Pro269Gln)	LAMA4 (P269Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3650537	NM_001105206.3(LAMA4):c.28G>A (p.Val10Ile)	LAMA4, LAMA4-AS1 (V10I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3649466	NM_001105206.3(LAMA4):c.2752C>A (p.Pro918Thr)	LAMA4, LOC126859766 (P918T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3648973	NM_001105206.3(LAMA4):c.2651A>T (p.Tyr884Phe)	LAMA4 (Y884F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3648310	NM_001105206.3(LAMA4):c.276G>T (p.Leu92Phe)	LAMA4 (L92F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3644795	NM_001105206.3(LAMA4):c.855G>A (p.Arg285=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3643844	NM_001105206.3(LAMA4):c.2693C>A (p.Ala898Glu)	LOC126859766, LAMA4 (A898E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3642117	NM_001105206.3(LAMA4):c.1445A>G (p.Asn482Ser)	LAMA4 (N475S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3641376	NM_001105206.3(LAMA4):c.4807G>A (p.Val1603Met)	LAMA4 (V1603M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3641163	NM_001105206.3(LAMA4):c.5323C>G (p.Pro1775Ala)	LAMA4 (P1768A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3641104	NM_001105206.3(LAMA4):c.1314C>T (p.Thr438=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3640486	NM_001105206.3(LAMA4):c.2449A>T (p.Arg817Trp)	LAMA4 (R810W +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3631782	NM_001105206.3(LAMA4):c.162C>T (p.Arg54=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3626613	NM_001105206.3(LAMA4):c.2014C>T (p.Leu672Phe)	LAMA4 (L665F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3626370	NM_001105206.3(LAMA4):c.3719A>G (p.Asn1240Ser)	LAMA4 (N1233S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3626313	NM_001105206.3(LAMA4):c.3152T>G (p.Phe1051Cys)	LAMA4 (F1044C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3625938	NM_001105206.3(LAMA4):c.2417G>C (p.Arg806Pro)	LAMA4 (R799P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3625830	NM_001105206.3(LAMA4):c.5381G>A (p.Arg1794His)	LAMA4 (R1787H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3624265	NM_001105206.3(LAMA4):c.1341A>G (p.Ala447=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3622210	NM_001105206.3(LAMA4):c.4657T>C (p.Trp1553Arg)	LAMA4 (W1546R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3619069	NM_001105206.3(LAMA4):c.195G>A (p.Glu65=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3616847	NM_001105206.3(LAMA4):c.686A>G (p.Tyr229Cys)	LAMA4 (Y229C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3616748	NM_001105206.3(LAMA4):c.2345G>C (p.Arg782Thr)	LAMA4 (R775T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3609562	NM_001105206.3(LAMA4):c.743G>T (p.Cys248Phe)	LAMA4 (C248F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3609544	NM_001105206.3(LAMA4):c.195+13T>C	LAMA4, LAMA4-AS1 (C70R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3609507	NM_001105206.3(LAMA4):c.2001T>C (p.Asp667=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 3603815	NM_001105206.3(LAMA4):c.3215T>C (p.Val1072Ala)	LAMA4 (V1065A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 3536975	NM_001105206.3(LAMA4):c.2712G>A (p.Leu904=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3536937	NM_001105206.3(LAMA4):c.1946A>G (p.Asp649Gly)	LAMA4 (D649G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3536933	NM_001105206.3(LAMA4):c.3604A>G (p.Met1202Val)	LAMA4 (M1202V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3536928	NM_001105206.3(LAMA4):c.2235G>A (p.Thr745=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3536927	NM_001105206.3(LAMA4):c.3110G>A (p.Arg1037Gln)	LAMA4 (R1030Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3289944	NM_001105206.3(LAMA4):c.1121G>T (p.Ser374Ile)	LAMA4 (S367I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3289932	NM_001105206.3(LAMA4):c.4722C>T (p.Val1574=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	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 +1 more	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 3222058	NM_001105206.3(LAMA4):c.5272C>A (p.Leu1758Met)	LAMA4 (L1751M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3222044	NM_001105206.3(LAMA4):c.3704G>T (p.Arg1235Leu)	LAMA4 (R1228L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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