Related gene-specific medical variations for Gene (Select 3910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3222025	NM_001105206.3(LAMA4):c.189G>C (p.Ala63=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 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 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 2992482	NM_001105206.3(LAMA4):c.2814G>A (p.Arg938=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous 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 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 2914450	NM_001105206.3(LAMA4):c.2790C>T (p.Tyr930=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
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 2882805	NM_001105206.3(LAMA4):c.2676del (p.Glu893fs)	LAMA4, LOC126859766 (E886fs +1 more)	Deletion (frameshift 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 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 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)	LOC126859766, LAMA4 (S914C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2750007	NM_001105206.3(LAMA4):c.43C>T (p.Leu15Phe)	LAMA4, LAMA4-AS1 (L15F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2737758	NM_001105206.3(LAMA4):c.94T>A (p.Phe32Ile)	LAMA4, LAMA4-AS1 (F32I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2724523	NM_001105206.3(LAMA4):c.2813+15T>G	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2625031	NM_001105206.3(LAMA4):c.2895A>G (p.Glu965=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562636	NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser)	LAMA4, LOC126859766 (R931S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562633	NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn)	LAMA4, LAMA4-AS1 (D28N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2562629	NM_001105206.3(LAMA4):c.112G>A (p.Gly38Arg)	LAMA4, LAMA4-AS1 (G38R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562619	NM_001105206.3(LAMA4):c.75G>C (p.Ala25=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562617	NM_001105206.3(LAMA4):c.2787T>C (p.Ala929=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2504904	NM_001105206.3(LAMA4):c.56C>T (p.Ala19Val)	LAMA4, LAMA4-AS1 (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500664	NM_001105206.3(LAMA4):c.97C>G (p.Pro33Ala)	LAMA4-AS1, LAMA4 (P33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2447552	NM_001105206.3(LAMA4):c.2869G>A (p.Glu957Lys)	LAMA4, LOC126859766 (E957K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2433378	NM_001105206.3(LAMA4):c.1043G>T (p.Ser348Ile)	LAMA4 (S341I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2433377	NM_001105206.3(LAMA4):c.3968G>A (p.Arg1323Lys)	LAMA4 (R1316K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2421856	NM_001105206.3(LAMA4):c.2681A>T (p.Tyr894Phe)	LAMA4, LOC126859766 (Y887F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2161612	NM_001105206.3(LAMA4):c.123G>C (p.Ala41=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2160712	NM_001105206.3(LAMA4):c.2813+16G>T	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2078604	NM_001105206.3(LAMA4):c.195+4C>T	LAMA4-AS1, LAMA4 (Q67*)	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2064047	NM_001105206.3(LAMA4):c.2900C>T (p.Ser967Leu)	LAMA4, LOC126859766 (S960L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2062170	NM_001105206.3(LAMA4):c.5C>T (p.Ala2Val)	LAMA4, LAMA4-AS1 (A2V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2043375	NM_001105206.3(LAMA4):c.2770G>A (p.Val924Ile)	LAMA4, LOC126859766 (V917I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 2037315	NM_001105206.3(LAMA4):c.2740G>C (p.Asp914His)	LAMA4, LOC126859766 (D907H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 2025713	NM_001105206.3(LAMA4):c.39G>T (p.Leu13=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 2010772	NM_001105206.3(LAMA4):c.122C>A (p.Ala41Glu)	LAMA4, LAMA4-AS1 (A41E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1952311	NM_001105206.3(LAMA4):c.57T>C (p.Ala19=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1949470	NM_001105206.3(LAMA4):c.2814-5A>C	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1932411	NM_001105206.3(LAMA4):c.78C>T (p.Ser26=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1922185	NM_001105206.3(LAMA4):c.152G>C (p.Ser51Thr)	LAMA4, LAMA4-AS1 (S51T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1796677	NM_001105206.3(LAMA4):c.2859T>C (p.Ser953=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 1796451	NM_001105206.3(LAMA4):c.2842A>G (p.Thr948Ala)	LOC126859766, LAMA4 (T948A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796181	NM_001105206.3(LAMA4):c.27G>A (p.Ser9=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 1796060	NM_001105206.3(LAMA4):c.2813+5A>G	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1795972	NM_001105206.3(LAMA4):c.2805G>A (p.Lys935=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1795878	NM_001105206.3(LAMA4):c.2799T>C (p.Ile933=)	LOC126859766, LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1795642	NM_001105206.3(LAMA4):c.2780G>C (p.Trp927Ser)	LAMA4, LOC126859766 (W927S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1795570	NM_001105206.3(LAMA4):c.2772C>T (p.Val924=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 1794258	NM_001105206.3(LAMA4):c.2668-5T>G	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1792204	NM_001105206.3(LAMA4):c.24C>G (p.Arg8=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1789258	NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)	LAMA4, LAMA4-AS1 (R8C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1786119	NM_001105206.3(LAMA4):c.107T>A (p.Ile36Asn)	LAMA4, LAMA4-AS1 (I36N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783183	NM_001105206.3(LAMA4):c.194A>T (p.Glu65Val)	LAMA4, LAMA4-AS1 (E65V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1776123	NM_001105206.3(LAMA4):c.15A>G (p.Ser5=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1773711	NM_001105206.3(LAMA4):c.103G>A (p.Asp35Asn)	LAMA4, LAMA4-AS1 (D35N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762422	NM_001105206.3(LAMA4):c.81G>C (p.Gly27=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1755505	NM_001105206.3(LAMA4):c.67C>T (p.Arg23Cys)	LAMA4, LAMA4-AS1 (R23C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1753909	NM_001105206.3(LAMA4):c.64T>C (p.Ser22Pro)	LAMA4-AS1, LAMA4 (S22P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1721572	NM_001105206.3(LAMA4):c.103G>C (p.Asp35His)	LAMA4, LAMA4-AS1 (D35H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1721509	NM_001105206.3(LAMA4):c.2779T>C (p.Trp927Arg)	LOC126859766, LAMA4 (W920R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1719763	NM_001105206.3(LAMA4):c.20G>C (p.Trp7Ser)	LAMA4, LAMA4-AS1 (W7S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1656841	NM_001105206.3(LAMA4):c.2874A>G (p.Glu958=)	LAMA4, LOC126859766	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1602007	NM_001105206.3(LAMA4):c.2813+13C>A	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1579360	NM_001105206.3(LAMA4):c.2813+7T>C	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1567147	NM_001105206.3(LAMA4):c.2668-13C>A	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1543333	NM_001105206.3(LAMA4):c.2724T>C (p.Tyr908=)	LOC126859766, LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 1536106	NM_001105206.3(LAMA4):c.195+16C>T	LAMA4, LAMA4-AS1 (H71Y)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 1500515	NM_001105206.3(LAMA4):c.2751T>G (p.Ile917Met)	LAMA4, LOC126859766 (I917M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1494723	NM_001105206.3(LAMA4):c.188C>A (p.Ala63Glu)	LAMA4, LAMA4-AS1 (A63E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1469306	NM_001105206.3(LAMA4):c.195+3A>G	LAMA4, LAMA4-AS1	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1415889	NM_001105206.3(LAMA4):c.14C>T (p.Ser5Leu)	LAMA4, LAMA4-AS1 (S5L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1408504	NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup)	LAMA4, LAMA4-AS1	Duplication (inframe_insertion)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1397936	NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly)	LAMA4, LOC126859766 (D962G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1369448	NM_001105206.3(LAMA4):c.2853T>A (p.Ser951Arg)	LAMA4, LOC126859766 (S944R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1367111	NM_001105206.3(LAMA4):c.2832G>T (p.Lys944Asn)	LAMA4, LOC126859766 (K944N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1347520	NM_001105206.3(LAMA4):c.51G>A (p.Trp17Ter)	LAMA4-AS1, LAMA4 (W17*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1330881	NM_001105206.3(LAMA4):c.3708A>T (p.Arg1236Ser)	LAMA4 (R1229S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1310912	NM_001105206.3(LAMA4):c.2761T>G (p.Ser921Ala)	LAMA4, LOC126859766 (S914A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200250	NM_001105206.3(LAMA4):c.2668-48A>G	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1135313	NM_001105206.3(LAMA4):c.2901G>A (p.Ser967=)	LOC126859766, LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 1059746	NM_001105206.3(LAMA4):c.2668-6T>C	LAMA4, LOC126859766	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1058849	NM_001105206.3(LAMA4):c.63C>G (p.Cys21Trp)	LAMA4, LAMA4-AS1 (C21W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1051881	NM_001105206.3(LAMA4):c.2739A>C (p.Lys913Asn)	LAMA4, LOC126859766 (K906N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1036456	NM_001105206.3(LAMA4):c.133del (p.Gln45fs)	LAMA4, LAMA4-AS1 (Q45fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 1014267	NM_001105206.3(LAMA4):c.74C>T (p.Ala25Val)	LAMA4, LAMA4-AS1 (A25V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 999036	NM_001105206.3(LAMA4):c.92C>T (p.Ala31Val)	LAMA4, LAMA4-AS1 (A31V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 994027	NM_001105206.3(LAMA4):c.5135G>C (p.Gly1712Ala)	LAMA4 (G1705A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 978755	NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val)	LAMA4, LAMA4-AS1 (A63V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GConflicting classifications of pathogenicity
Select item 948041	NM_001105206.3(LAMA4):c.195+5A>C	LAMA4, LAMA4-AS1 (Q67P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 931083	NM_001105206.3(LAMA4):c.4665+6T>C	LAMA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 930233	NM_001105206.3(LAMA4):c.4134-1G>C	LAMA4	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 915660	NM_001105206.3(LAMA4):c.2687G>T (p.Gly896Val)	LAMA4, LOC126859766 (G896V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 864343	NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val)	LAMA4, LAMA4-AS1 (A64V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance

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