ClinVar for Gene (Select 101927640) - ClinVar

Links from Gene

Items: 89

	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 864343	NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val)	LAMA4, LAMA4-AS1 (A64V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 864245	NM_001105206.3(LAMA4):c.107T>C (p.Ile36Thr)	LAMA4, LAMA4-AS1 (I36T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 842053	NM_001105206.3(LAMA4):c.163G>T (p.Val55Leu)	LAMA4, LAMA4-AS1 (V55L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 794448	NM_001105206.3(LAMA4):c.123G>T (p.Ala41=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 755477	NM_001105206.3(LAMA4):c.169C>T (p.Leu57=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ	GLikely benign
Select item 701178	NM_001105206.3(LAMA4):c.123G>A (p.Ala41=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 541220	NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val)	LAMA4, LAMA4-AS1 (A56V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +3 more	GConflicting classifications of pathogenicity
Select item 518949	NM_001105206.3(LAMA4):c.82GAC[1] (p.Asp29del)	LAMA4, LAMA4-AS1 (D29del)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 518557	NM_001105206.3(LAMA4):c.72C>T (p.Ala24=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 518375	NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg)	LAMA4, LAMA4-AS1 (W14R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 517603	NM_001105206.3(LAMA4):c.90C>T (p.Asn30=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514977	NM_001105206.3(LAMA4):c.-147C>T	LAMA4-AS1, LAMA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 513916	NM_001105206.3(LAMA4):c.122C>T (p.Ala41Val)	LAMA4, LAMA4-AS1 (A41V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 492988	NM_001105206.3(LAMA4):c.105C>G (p.Asp35Glu)	LAMA4-AS1, LAMA4 (D35E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 423501	NM_001105206.3(LAMA4):c.157C>A (p.Pro53Thr)	LAMA4, LAMA4-AS1 (P53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413764	NM_001105206.3(LAMA4):c.150G>A (p.Thr50=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 413761	NM_001105206.3(LAMA4):c.36T>C (p.Pro12=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +1 more	GLikely benign
Select item 406145	NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)	LAMA4-AS1, LAMA4 (S51R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
Select item 406141	NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val)	LAMA4, LAMA4-AS1 (A20V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 391553	NM_001105206.3(LAMA4):c.-37G>A	LAMA4, LAMA4-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388485	NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn)	LAMA4, LAMA4-AS1 (D29N)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 388208	NM_001105206.3(LAMA4):c.141G>T (p.Pro47=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 388077	NM_001105206.3(LAMA4):c.66C>T (p.Ser22=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 265823	NM_001105206.3(LAMA4):c.133C>T (p.Gln45Ter)	LAMA4, LAMA4-AS1 (Q45*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1S	GLikely benign
Select item 239116	NM_001105206.3(LAMA4):c.98C>G (p.Pro33Arg)	LAMA4, LAMA4-AS1 (P33R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 213574	NM_001105206.3(LAMA4):c.141G>A (p.Pro47=)	LAMA4-AS1, LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +3 more	GBenign/Likely benign
Select item 213572	NM_001105206.3(LAMA4):c.85G>C (p.Asp29His)	LAMA4, LAMA4-AS1 (D29H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GBenign/Likely benign
Select item 191693	NM_001105206.3(LAMA4):c.195+71_195+73del	LAMA4, LAMA4-AS1 (F89del)	Deletion (inframe_deletion +1 more)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 163800	NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)	LAMA4, LAMA4-AS1 (I36V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 163799	NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu)	LAMA4, LAMA4-AS1 (P47L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 163798	NM_001105206.3(LAMA4):c.195+144T>C	LAMA4-AS1, LAMA4	Single nucleotide variant (synonymous variant +1 more)	LAMA4-related disorder +2 more	GBenign
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 155071	GRCh38/hg38 6q21(chr6:112289521-113238570)x3	LAMA4-AS1, LOC110121046 +4 more	Copy number gain	See cases	GLikely benign
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153380	GRCh38/hg38 6q21(chr6:112010915-112244218)x1	CCN6, FAM229B +10 more	Copy number loss	See cases	GUncertain significance
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 145596	GRCh38/hg38 6q21(chr6:111948842-112906602)x3	CCN6, FAM229B +15 more	Copy number gain	See cases	GUncertain significance
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 44353	NM_001105206.3(LAMA4):c.195+4_195+5del	LAMA4-AS1, LAMA4 (Q67fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 43955	NM_001105206.3(LAMA4):c.195+131C>G	LAMA4, LAMA4-AS1 (S109*)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 89