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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539549	NM_213653.4(HJV):c.1178A>G (p.Lys393Arg)	HJV (K167R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106084	NM_213653.4(HJV):c.1150G>T (p.Ala384Ser)	HJV (A271S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106083	NM_213653.4(HJV):c.1051C>T (p.Leu351Phe)	HJV (L238F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106082	NM_213653.4(HJV):c.1001G>A (p.Arg334His)	HJV (R108H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 292431	NM_213653.4(HJV):c.986G>C (p.Arg329Pro)	HJV (R329P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2602312	NM_213653.4(HJV):c.982T>A (p.Ser328Thr)	HJV (S102T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874084	NM_213653.4(HJV):c.977G>A (p.Arg326Gln)	HJV (R213Q +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 3106095	NM_213653.4(HJV):c.956G>C (p.Gly319Ala)	HJV (G206A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106094	NM_213653.4(HJV):c.863G>A (p.Arg288Gln)	HJV (R288Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2044335	NM_213653.4(HJV):c.791C>T (p.Ser264Leu)	HJV (S264L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3106093	NM_213653.4(HJV):c.770G>A (p.Arg257Gln)	HJV (R144Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475818	NM_213653.4(HJV):c.662C>T (p.Thr221Ile)	HJV (T108I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106092	NM_213653.4(HJV):c.622A>G (p.Met208Val)	HJV (M95V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2568788	NM_213653.4(HJV):c.592T>G (p.Phe198Val)	HJV (F198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537225	NM_213653.4(HJV):c.516C>A (p.Asp172Glu)	HJV (D59E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106091	NM_213653.4(HJV):c.488G>A (p.Gly163Glu)	HJV (G163E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284394	NM_213653.4(HJV):c.458G>T (p.Arg153Leu)	HJV (R153L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 662092	NM_213653.4(HJV):c.442T>A (p.Cys148Ser)	HJV (C148S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3106090	NM_213653.4(HJV):c.419C>T (p.Ser140Phe)	HJV (S27F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486691	NM_213653.4(HJV):c.418T>G (p.Ser140Ala)	HJV (S140A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106089	NM_213653.4(HJV):c.392G>C (p.Arg131Pro)	HJV (R131P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284390	NM_213653.4(HJV):c.386C>T (p.Pro129Leu)	HJV (P129L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106088	NM_213653.4(HJV):c.371C>T (p.Pro124Leu)	HJV (P11L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284391	NM_213653.4(HJV):c.283C>T (p.Arg95Cys)	HJV (R95C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3284389	NM_213653.4(HJV):c.218G>A (p.Gly73Glu)	HJV (G73E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106087	NM_213653.4(HJV):c.217G>C (p.Gly73Arg)	HJV (G73R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3106086	NM_213653.4(HJV):c.209G>T (p.Arg70Leu)	HJV (R70L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2041931	NM_213653.4(HJV):c.197G>A (p.Gly66Glu)	HJV (G66E)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3106085	NM_213653.4(HJV):c.140T>C (p.Val47Ala)	HJV (V47A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 29