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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538609	NM_197978.3(HEMGN):c.1388C>G (p.Pro463Arg)	HEMGN (P463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458592	NM_197978.3(HEMGN):c.1352T>C (p.Phe451Ser)	HEMGN (F451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307420	NM_197978.3(HEMGN):c.1351T>C (p.Phe451Leu)	HEMGN (F451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515428	NM_197978.3(HEMGN):c.1232A>G (p.Glu411Gly)	HEMGN (E411G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284003	NM_197978.3(HEMGN):c.1205C>T (p.Thr402Ile)	HEMGN (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105224	NM_197978.3(HEMGN):c.1154A>G (p.Tyr385Cys)	HEMGN (Y385C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529121	NM_197978.3(HEMGN):c.1114C>A (p.Gln372Lys)	HEMGN (Q372K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105223	NM_197978.3(HEMGN):c.1109C>T (p.Thr370Met)	HEMGN (T370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284001	NM_197978.3(HEMGN):c.1084G>C (p.Gly362Arg)	HEMGN (G362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622040	NM_197978.3(HEMGN):c.1081C>A (p.Pro361Thr)	HEMGN (P361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409093	NM_197978.3(HEMGN):c.1009G>A (p.Ala337Thr)	HEMGN (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310262	NM_197978.3(HEMGN):c.950A>C (p.Glu317Ala)	HEMGN (E317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234328	NM_197978.3(HEMGN):c.946C>G (p.Gln316Glu)	HEMGN (Q316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317106	NM_197978.3(HEMGN):c.903A>G (p.Ile301Met)	HEMGN (I301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282671	NM_197978.3(HEMGN):c.855T>G (p.Asn285Lys)	HEMGN (N285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105228	NM_197978.3(HEMGN):c.836C>A (p.Ala279Glu)	HEMGN (A279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614927	NM_197978.3(HEMGN):c.639C>G (p.Asp213Glu)	HEMGN (D213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246065	NM_197978.3(HEMGN):c.559T>C (p.Ser187Pro)	HEMGN (S187P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105227	NM_197978.3(HEMGN):c.521C>A (p.Pro174His)	HEMGN (P174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383576	NM_197978.3(HEMGN):c.400T>C (p.Ser134Pro)	HEMGN (S134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105226	NM_197978.3(HEMGN):c.392A>C (p.Glu131Ala)	HEMGN (E131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274567	NM_197978.3(HEMGN):c.371C>T (p.Pro124Leu)	HEMGN (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347333	NM_197978.3(HEMGN):c.332C>G (p.Pro111Arg)	HEMGN (P111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536547	NM_197978.3(HEMGN):c.304G>A (p.Ala102Thr)	HEMGN (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105225	NM_197978.3(HEMGN):c.223G>T (p.Gly75Cys)	HEMGN (G75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568899	NM_197978.3(HEMGN):c.217C>G (p.Arg73Gly)	HEMGN (R73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284002	NM_197978.3(HEMGN):c.64G>A (p.Glu22Lys)	HEMGN (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105222	NM_197978.3(HEMGN):c.10G>A (p.Gly4Arg)	HEMGN (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28