ClinVar for MedGen (Select 815265) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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
Select item 2888411	NM_001105206.3(LAMA4):c.1776C>T (p.Asp592=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2886270	NM_001105206.3(LAMA4):c.3572A>C (p.His1191Pro)	LAMA4 (H1184P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2882991	NM_001105206.3(LAMA4):c.815-2A>C	LAMA4	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2882805	NM_001105206.3(LAMA4):c.2676del (p.Glu893fs)	LAMA4, LOC126859766 (E886fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2878124	NM_001105206.3(LAMA4):c.1303C>A (p.Pro435Thr)	LAMA4 (P428T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2877301	NM_001105206.3(LAMA4):c.5214A>C (p.Arg1738Ser)	LAMA4 (R1738S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2876441	NM_001105206.3(LAMA4):c.2765A>G (p.Lys922Arg)	LAMA4, LOC126859766 (K915R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2875760	NM_001105206.3(LAMA4):c.441T>C (p.Tyr147=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2873410	NM_001105206.3(LAMA4):c.4134-9C>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2869739	NM_001105206.3(LAMA4):c.1078-6T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2866776	NM_001105206.3(LAMA4):c.5224G>A (p.Val1742Met)	LAMA4 (V1735M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2862209	NM_001105206.3(LAMA4):c.4958C>G (p.Thr1653Arg)	LAMA4 (T1653R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2853480	NM_001105206.3(LAMA4):c.3835-10T>G	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2851433	NM_001105206.3(LAMA4):c.308G>T (p.Arg103Leu)	LAMA4 (R103L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2848251	NM_001105206.3(LAMA4):c.474C>G (p.Asn158Lys)	LAMA4 (N158K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2845554	NM_001105206.3(LAMA4):c.4626T>G (p.Ile1542Met)	LAMA4 (I1535M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2845553	NM_001105206.3(LAMA4):c.5327-3C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2844181	NM_001105206.3(LAMA4):c.5419A>G (p.Lys1807Glu)	LAMA4 (K1800E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2843384	NM_001105206.3(LAMA4):c.5327-16T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2840002	NM_001105206.3(LAMA4):c.201C>G (p.Cys67Trp)	LAMA4 (C67W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2839812	NM_001105206.3(LAMA4):c.4820A>G (p.Gln1607Arg)	LAMA4 (Q1607R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2837169	NM_001105206.3(LAMA4):c.2118T>G (p.Ser706Arg)	LAMA4 (S699R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2836580	NM_001105206.3(LAMA4):c.3903G>A (p.Gln1301=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2834616	NM_001105206.3(LAMA4):c.196-11G>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2834246	NM_001105206.3(LAMA4):c.2595G>T (p.Met865Ile)	LAMA4 (M858I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2832875	NM_001105206.3(LAMA4):c.3040G>A (p.Asp1014Asn)	LAMA4 (D1007N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2831327	NM_001105206.3(LAMA4):c.4110C>T (p.Cys1370=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2822033	NM_001105206.3(LAMA4):c.1737A>C (p.Leu579=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2821444	NM_001105206.3(LAMA4):c.2672A>T (p.Lys891Ile)	LAMA4, LOC126859766 (K884I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2821443	NM_001105206.3(LAMA4):c.2826T>A (p.His942Gln)	LAMA4, LOC126859766 (H935Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2817857	NM_001105206.3(LAMA4):c.3482T>C (p.Met1161Thr)	LAMA4 (M1161T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2812858	NM_001105206.3(LAMA4):c.1177G>T (p.Asp393Tyr)	LAMA4 (D393Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2806250	NM_001105206.3(LAMA4):c.1514T>C (p.Met505Thr)	LAMA4 (M498T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2806032	NM_001105206.3(LAMA4):c.2917C>G (p.Leu973Val)	LAMA4, LOC126859766 (L966V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2805389	NM_001105206.3(LAMA4):c.2762C>G (p.Ser921Cys)	LAMA4, LOC126859766 (S914C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2803134	NM_001105206.3(LAMA4):c.4887C>T (p.Thr1629=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2801737	NM_001105206.3(LAMA4):c.4694G>A (p.Gly1565Asp)	LAMA4 (G1558D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2801090	NM_001105206.3(LAMA4):c.2174-5del	LAMA4	Deletion (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2796355	NM_001105206.3(LAMA4):c.2961G>C (p.Val987=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2791525	NM_001105206.3(LAMA4):c.1718A>G (p.Gln573Arg)	LAMA4 (Q566R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2789792	NM_001105206.3(LAMA4):c.3906A>G (p.Ser1302=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2787914	NM_001105206.3(LAMA4):c.1360C>T (p.Leu454=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2787265	NM_001105206.3(LAMA4):c.4821+7C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2787247	NM_001105206.3(LAMA4):c.5339_5359del (p.Thr1780_Ser1786del)	LAMA4	Deletion (inframe_deletion)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2783704	NM_001105206.3(LAMA4):c.1153G>C (p.Val385Leu)	LAMA4 (V378L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2770951	NM_001105206.3(LAMA4):c.3882T>C (p.Asp1294=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2769074	NM_001105206.3(LAMA4):c.488G>T (p.Gly163Val)	LAMA4 (G163V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2767572	NM_001105206.3(LAMA4):c.4651G>T (p.Gly1551Cys)	LAMA4 (G1551C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2767195	NM_001105206.3(LAMA4):c.1189+17C>T	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2766050	NM_001105206.3(LAMA4):c.3557+6G>A	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2765780	NM_001105206.3(LAMA4):c.550T>G (p.Cys184Gly)	LAMA4 (C184G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance

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