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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104151	NM_005326.6(HAGH):c.920G>A (p.Arg307Gln)	HAGH (R259Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551912	NM_005326.6(HAGH):c.850G>A (p.Ala284Thr)	HAGH (A236T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283424	NM_005326.6(HAGH):c.784A>G (p.Thr262Ala)	HAGH (T214A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393519	NM_005326.6(HAGH):c.763G>A (p.Gly255Arg)	HAGH (G207R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481871	NM_005326.6(HAGH):c.754T>A (p.Tyr252Asn)	HAGH (Y252N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343781	NM_005326.6(HAGH):c.724C>T (p.Arg242Trp)	HAGH (R242W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104149	NM_005326.6(HAGH):c.713A>G (p.Asn238Ser)	HAGH (M202V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320581	NM_005326.6(HAGH):c.700G>A (p.Val234Met)	HAGH (V234M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358246	NM_005326.6(HAGH):c.695G>A (p.Arg232His)	HAGH (A196T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104148	NM_005326.6(HAGH):c.655T>C (p.Cys219Arg)	HAGH (C171R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294411	NM_005326.6(HAGH):c.560C>T (p.Ala187Val)	HAGH (A139V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312053	NM_005326.6(HAGH):c.467C>A (p.Pro156Gln)	HAGH (P156Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283423	NM_005326.6(HAGH):c.466C>T (p.Pro156Ser)	HAGH (P108S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104146	NM_005326.6(HAGH):c.448G>A (p.Val150Ile)	HAGH (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617272	NM_005326.6(HAGH):c.431A>C (p.Gln144Pro)	HAGH (Q96P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619534	NM_005326.6(HAGH):c.409A>G (p.Ile137Val)	HAGH (I89V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457206	NM_005326.6(HAGH):c.274G>A (p.Gly92Arg)	HAGH (G92R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336210	NM_005326.6(HAGH):c.259G>A (p.Ala87Thr)	HAGH (A39T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317440	NM_005326.6(HAGH):c.202G>C (p.Asp68His)	HAGH (D20H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295364	NM_005326.6(HAGH):c.136G>A (p.Glu46Lys)	HAGH (E46K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283421	NM_005326.6(HAGH):c.130G>A (p.Val44Met)	HAGH (V44M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104145	NM_005326.6(HAGH):c.119A>G (p.Lys40Arg)	HAGH (K40R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2248063	NM_005326.6(HAGH):c.88C>G (p.Leu30Val)	HAGH (L30V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104147	NM_005326.6(HAGH):c.44C>T (p.Ala15Val)	HAGH, LOC130058193 (A15V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283422	NM_005326.6(HAGH):c.36C>G (p.Ser12Arg)	HAGH, LOC130058193 (S12R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 25