"Ambry Genetics"[submitter] AND "B9D1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1378585	NM_015681.6(B9D1):c.603C>A (p.Ser201Arg)	B9D1 (S201R)	Single nucleotide variant (3 prime UTR variant +2 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1406984	NM_015681.6(B9D1):c.602G>A (p.Ser201Asn)	B9D1 (S201N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1473210	NM_015681.6(B9D1):c.485G>A (p.Arg162His)	B9D1 (R162H)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2388969	NM_015681.6(B9D1):c.478C>T (p.Arg160Cys)	B9D1 (R160C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301830	NM_015681.6(B9D1):c.462A>C (p.Glu154Asp)	B9D1 (E154D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2151657	NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)	B9D1 (R20Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2233825	NM_015681.6(B9D1):c.397T>C (p.Phe133Leu)	B9D1 (F133L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337859	NM_015681.6(B9D1):c.382T>C (p.Ser128Pro)	B9D1 (S128P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259577	NM_015681.6(B9D1):c.343C>T (p.His115Tyr)	B9D1 (H115Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261381	NM_015681.6(B9D1):c.307dup (p.Tyr103fs)	B9D1 (Y103fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1411746	NM_015681.6(B9D1):c.131C>T (p.Ala44Val)	B9D1 (A44V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3259587	NM_015681.6(B9D1):c.130G>T (p.Ala44Ser)	B9D1 (A44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2298918	NM_015681.6(B9D1):c.74A>T (p.Tyr25Phe)	B9D1 (Y25F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2041483	NM_015681.6(B9D1):c.49G>A (p.Val17Met)	B9D1, LOC130060455 (V17M)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 3132731	NM_015681.6(B9D1):c.31C>T (p.Leu11Phe)	B9D1, LOC130060455 (L11F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance