"Ambry Genetics"[submitter] AND "ASPHD2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412568	NM_020437.5(ASPHD2):c.26C>T (p.Pro9Leu)	ASPHD2 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318478	NM_020437.5(ASPHD2):c.105G>C (p.Trp35Cys)	ASPHD2 (W35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130452	NM_020437.5(ASPHD2):c.109T>C (p.Trp37Arg)	ASPHD2 (W37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331593	NM_020437.5(ASPHD2):c.157G>A (p.Val53Met)	ASPHD2 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357872	NM_020437.5(ASPHD2):c.250C>T (p.Arg84Trp)	ASPHD2 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372178	NM_020437.5(ASPHD2):c.265G>A (p.Val89Ile)	ASPHD2 (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130454	NM_020437.5(ASPHD2):c.335A>C (p.Glu112Ala)	ASPHD2 (E112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400822	NM_020437.5(ASPHD2):c.346T>G (p.Cys116Gly)	ASPHD2 (C116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536823	NM_020437.5(ASPHD2):c.383A>C (p.His128Pro)	ASPHD2 (H128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361441	NM_020437.5(ASPHD2):c.476G>A (p.Arg159Gln)	ASPHD2 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615167	NM_020437.5(ASPHD2):c.668C>A (p.Thr223Asn)	ASPHD2 (T223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597097	NM_020437.5(ASPHD2):c.685T>G (p.Phe229Val)	ASPHD2 (F229V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130455	NM_020437.5(ASPHD2):c.689C>T (p.Thr230Ile)	ASPHD2 (T230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615244	NM_020437.5(ASPHD2):c.739T>G (p.Cys247Gly)	ASPHD2 (C247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130457	NM_020437.5(ASPHD2):c.740G>A (p.Cys247Tyr)	ASPHD2 (C247Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130458	NM_020437.5(ASPHD2):c.791A>G (p.Asn264Ser)	ASPHD2 (N264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130459	NM_020437.5(ASPHD2):c.809G>A (p.Cys270Tyr)	ASPHD2 (C270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358275	NM_020437.5(ASPHD2):c.1009G>C (p.Glu337Gln)	ASPHD2, LOC126863104 (E337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368105	NM_020437.5(ASPHD2):c.1019C>T (p.Pro340Leu)	ASPHD2, HPS4 +1 more (P340L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600830	NM_020437.5(ASPHD2):c.1021C>T (p.Arg341Trp)	ASPHD2, HPS4 +1 more (R341W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388908	NM_020437.5(ASPHD2):c.1022G>A (p.Arg341Gln)	ASPHD2, HPS4 +1 more (R341Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21