"Blueprint Genetics"[submitter] AND "LAMA4"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222683	NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg)	LAMA4 (L1181R +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 180393	NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)	LAMA4 (P1162L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +1 more	GUncertain significance
Select item 180392	NM_001105206.3(LAMA4):c.3043G>C (p.Val1015Leu)	LAMA4 (V1008L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 180391	NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala)	LAMA4 (P865A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ +2 more	GConflicting classifications of pathogenicity
Select item 180390	NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met)	LAMA4 (T852M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1JJ	GUncertain significance
Select item 222682	NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=)	LAMA4	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 222681	NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His)	LAMA4 (R723H +1 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 44357	NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr)	LAMA4 (D660Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 222680	NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)	LAMA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 222679	NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn)	LAMA4 (S367N +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180394	NM_001105206.3(LAMA4):c.814+7A>C	LAMA4	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180389	NM_001105206.3(LAMA4):c.631A>C (p.Asn211His)	LAMA4 (N211H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance