"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LAMA4-A - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2078604	NM_001105206.3(LAMA4):c.195+4C>T	LAMA4, LAMA4-AS1 (Q67*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 1469306	NM_001105206.3(LAMA4):c.195+3A>G	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous 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)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 978755	NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val)	LAMA4, LAMA4-AS1 (A63V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
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 541220	NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val)	LAMA4, LAMA4-AS1 (A56V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
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 406145	NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)	LAMA4, LAMA4-AS1 (S51R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 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 388208	NM_001105206.3(LAMA4):c.141G>T (p.Pro47=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +2 more	GLikely benign
Select item 213574	NM_001105206.3(LAMA4):c.141G>A (p.Pro47=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1036456	NM_001105206.3(LAMA4):c.133del (p.Gln45fs)	LAMA4, LAMA4-AS1 (Q45fs)	Deletion (frameshift variant)	not provided +2 more	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 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 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 2010772	NM_001105206.3(LAMA4):c.122C>A (p.Ala41Glu)	LAMA4-AS1, LAMA4 (A41E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 513916	NM_001105206.3(LAMA4):c.122C>T (p.Ala41Val)	LAMA4, LAMA4-AS1 (A41V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GLikely benign
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 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 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 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 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 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 388485	NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn)	LAMA4, LAMA4-AS1 (D29N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely 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 2562633	NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn)	LAMA4, LAMA4-AS1 (D28N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GUncertain significance
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 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 518557	NM_001105206.3(LAMA4):c.72C>T (p.Ala24=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +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)	Cardiovascular phenotype +1 more	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 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 406141	NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val)	LAMA4, LAMA4-AS1 (A20V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	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 1347520	NM_001105206.3(LAMA4):c.51G>A (p.Trp17Ter)	LAMA4, LAMA4-AS1 (W17*)	Single nucleotide variant (nonsense)	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 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 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 413761	NM_001105206.3(LAMA4):c.36T>C (p.Pro12=)	LAMA4, LAMA4-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1789258	NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)	LAMA4, LAMA4-AS1 (R8C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 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 1415889	NM_001105206.3(LAMA4):c.14C>T (p.Ser5Leu)	LAMA4, LAMA4-AS1 (S5L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
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 2062170	NM_001105206.3(LAMA4):c.5C>T (p.Ala2Val)	LAMA4, LAMA4-AS1 (A2V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance

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Items: 50