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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2367592	NM_000412.5(HRG):c.62C>T (p.Pro21Leu)	HRG-AS1, HRG (P21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334460	NM_000412.5(HRG):c.202T>C (p.Tyr68His)	HRG, HRG-AS1 +1 more (Y68H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282849	NM_000412.5(HRG):c.307G>A (p.Gly103Arg)	HRG, HRG-AS1 +1 more (G103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491452	NM_000412.5(HRG):c.400G>A (p.Ala134Thr)	HRG, HRG-AS1 (A134T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545803	NM_000412.5(HRG):c.415A>G (p.Lys139Glu)	HRG, HRG-AS1 (K139E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372746	NM_000412.5(HRG):c.418G>T (p.Asp140Tyr)	HRG-AS1, HRG (D140Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507636	NM_000412.5(HRG):c.541G>C (p.Glu181Gln)	HRG, HRG-AS1 (E181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243271	NM_000412.5(HRG):c.550G>A (p.Ala184Thr)	HRG-AS1, HRG (A184T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556537	NM_000412.5(HRG):c.572G>A (p.Gly191Glu)	HRG-AS1, HRG (G191E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597883	NM_000412.5(HRG):c.669C>G (p.Phe223Leu)	HRG (F223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472049	NM_000412.5(HRG):c.733G>C (p.Asp245His)	HRG, HRG-AS1 (D245H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372747	NM_000412.5(HRG):c.735C>A (p.Asp245Glu)	HRG-AS1, HRG (D245E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518981	NM_000412.5(HRG):c.758A>G (p.Asn253Ser)	HRG, HRG-AS1 (N253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2363392	NM_000412.5(HRG):c.809G>A (p.Arg270His)	HRG, HRG-AS1 (R270H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2307637	NM_000412.5(HRG):c.920C>T (p.Ser307Leu)	HRG-AS1, HRG (S307L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2555333	NM_000412.5(HRG):c.1004A>G (p.Asn335Ser)	HRG, HRG-AS1 (N335S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234954	NM_000412.5(HRG):c.1009G>A (p.Ala337Thr)	HRG, HRG-AS1 (A337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2597597	NM_000412.5(HRG):c.1256C>T (p.Pro419Leu)	HRG (P419L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301290	NM_000412.5(HRG):c.1289G>C (p.Gly430Ala)	HRG-AS1, HRG (G430A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468862	NM_000412.5(HRG):c.1301C>T (p.Pro434Leu)	HRG, HRG-AS1 (P434L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217172	NM_000412.5(HRG):c.1322G>A (p.Arg441Gln)	HRG, HRG-AS1 (R441Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542425	NM_000412.5(HRG):c.1393A>G (p.Arg465Gly)	HRG, HRG-AS1 (R465G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474447	NM_000412.5(HRG):c.1448C>A (p.Pro483Gln)	HRG, HRG-AS1 (P483Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496519	NM_000412.5(HRG):c.1498G>T (p.Val500Phe)	HRG, HRG-AS1 (V500F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253223	NM_000412.5(HRG):c.1559C>T (p.Thr520Ile)	HRG-AS1, HRG (T520I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25