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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2268288	NM_001177479.2(HDX):c.2032G>T (p.Val678Leu)	HDX (V620L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624179	NM_001177479.2(HDX):c.2018A>T (p.Asp673Val)	HDX (D615V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283746	NM_001177479.2(HDX):c.1948G>A (p.Ala650Thr)	HDX (A592T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104745	NM_001177479.2(HDX):c.1797A>T (p.Glu599Asp)	HDX (E599D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104744	NM_001177479.2(HDX):c.1743A>C (p.Lys581Asn)	HDX (K581N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292201	NM_001177479.2(HDX):c.1655C>T (p.Ser552Phe)	HDX (S494F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287802	NM_001177479.2(HDX):c.1415T>C (p.Val472Ala)	HDX (V414A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538478	NM_001177479.2(HDX):c.1364A>G (p.Asp455Gly)	HDX (D455G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399446	NM_001177479.2(HDX):c.1334G>A (p.Arg445Gln)	HDX (R387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283745	NM_001177479.2(HDX):c.1289G>T (p.Cys430Phe)	HDX (C372F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104743	NM_001177479.2(HDX):c.1286G>C (p.Gly429Ala)	HDX (G371A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395265	NM_001177479.2(HDX):c.1270G>C (p.Val424Leu)	HDX (V424L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104742	NM_001177479.2(HDX):c.1180C>T (p.Arg394Trp)	HDX (R394W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285152	NM_001177479.2(HDX):c.1120A>G (p.Thr374Ala)	HDX (T374A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529089	NM_001177479.2(HDX):c.893T>C (p.Met298Thr)	HDX (M240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512478	NM_001177479.2(HDX):c.694A>G (p.Lys232Glu)	HDX (K232E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104748	NM_001177479.2(HDX):c.604G>A (p.Val202Ile)	HDX (V144I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553980	NM_001177479.2(HDX):c.520A>G (p.Ile174Val)	HDX (I116V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619407	NM_001177479.2(HDX):c.388A>G (p.Ile130Val)	HDX (I72V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470883	NM_001177479.2(HDX):c.266C>T (p.Ala89Val)	HDX (A31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104746	NM_001177479.2(HDX):c.233C>G (p.Pro78Arg)	HDX (P78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548777	NM_001177479.2(HDX):c.218C>T (p.Thr73Ile)	HDX (T15I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606149	NM_001177479.2(HDX):c.30A>T (p.Glu10Asp)	HDX (E10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23