"Ambry Genetics"[submitter] AND "LOC126860792"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215847	NM_015160.3(PMPCA):c.604G>C (p.Glu202Gln)	LOC126860792, PMPCA (E202Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406836	NM_015160.3(PMPCA):c.607C>T (p.Pro203Ser)	LOC126860792, PMPCA (P103S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985640	NM_015160.3(PMPCA):c.622A>G (p.Met208Val)	LOC126860792, PMPCA (M108V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223431	NM_015160.3(PMPCA):c.688G>A (p.Val230Ile)	LOC126860792, PMPCA (V230I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3215848	NM_015160.3(PMPCA):c.743C>G (p.Pro248Arg)	LOC126860792, PMPCA (P117R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550687	NM_015160.3(PMPCA):c.749G>A (p.Arg250His)	LOC126860792, PMPCA (R250H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 221566	NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	LOC126860792, PMPCA (V256M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215849	NM_015160.3(PMPCA):c.811C>T (p.Leu271Phe)	LOC126860792, PMPCA (L140F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207314	NM_015160.3(PMPCA):c.826C>T (p.Pro276Ser)	LOC126860792, PMPCA (P276S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance