"Ambry Genetics"[submitter] AND "PHC1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547219	NM_004426.3(PHC1):c.13A>C (p.Ser5Arg)	PHC1 (S5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327554	NM_004426.3(PHC1):c.62G>C (p.Ser21Thr)	PHC1 (S21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296058	NM_004426.3(PHC1):c.284A>C (p.Gln95Pro)	PHC1 (Q95P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550294	NM_004426.3(PHC1):c.299A>G (p.Gln100Arg)	PHC1 (Q63R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595931	NM_004426.3(PHC1):c.325T>C (p.Ser109Pro)	PHC1 (S72P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2544853	NM_004426.3(PHC1):c.367C>T (p.Pro123Ser)	PHC1 (P86S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285759	NM_004426.3(PHC1):c.385A>G (p.Thr129Ala)	PHC1 (T129A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486302	NM_004426.3(PHC1):c.621C>A (p.Asn207Lys)	PHC1 (N199K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605561	NM_004426.3(PHC1):c.739G>T (p.Ala247Ser)	PHC1 (A197S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512773	NM_004426.3(PHC1):c.812G>C (p.Ser271Thr)	PHC1 (S263T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306861	NM_004426.3(PHC1):c.1011G>T (p.Lys337Asn)	PHC1 (K287N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317213	NM_004426.3(PHC1):c.1064G>A (p.Arg355Gln)	PHC1 (R303Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265564	NM_004426.3(PHC1):c.1229G>A (p.Arg410Gln)	PHC1 (R358Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458854	NM_004426.3(PHC1):c.1280A>T (p.Gln427Leu)	PHC1 (Q375L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522271	NM_004426.3(PHC1):c.1290A>T (p.Gln430His)	PHC1 (Q378H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274050	NM_004426.3(PHC1):c.1316A>C (p.Gln439Pro)	PHC1 (Q431P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255093	NM_004426.3(PHC1):c.1324G>A (p.Ala442Thr)	PHC1 (A440T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356804	NM_004426.3(PHC1):c.1375G>T (p.Val459Phe)	PHC1 (V457F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350088	NM_004426.3(PHC1):c.1389G>C (p.Gln463His)	PHC1 (Q411H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210248	NM_004426.3(PHC1):c.1417G>A (p.Val473Ile)	PHC1 (V421I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315303	NM_004426.3(PHC1):c.1420C>A (p.Gln474Lys)	PHC1 (Q474K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346049	NM_004426.3(PHC1):c.1520C>T (p.Pro507Leu)	PHC1 (P455L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335460	NM_004426.3(PHC1):c.1552G>C (p.Ala518Pro)	PHC1 (A481P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223312	NM_004426.3(PHC1):c.1766T>G (p.Leu589Trp)	PHC1 (L464W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207053	NM_004426.3(PHC1):c.1823G>A (p.Gly608Glu)	PHC1 (G467E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459761	NM_004426.3(PHC1):c.2027A>G (p.Lys676Arg)	PHC1 (K447R +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548464	NM_004426.3(PHC1):c.2078C>T (p.Thr693Ile)	PHC1 (T512I +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223910	NM_004426.3(PHC1):c.2165C>T (p.Ser722Leu)	PHC1 (S493L +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605064	NM_004426.3(PHC1):c.2219G>C (p.Gly740Ala)	PHC1 (G517A +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223034	NM_004426.3(PHC1):c.2309C>T (p.Pro770Leu)	PHC1 (P733L +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475581	NM_004426.3(PHC1):c.2325G>C (p.Glu775Asp)	PHC1 (E588D +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243803	NM_004426.3(PHC1):c.2513A>C (p.Lys838Thr)	PHC1 (K691T +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520226	NM_004426.3(PHC1):c.2546A>G (p.Asn849Ser)	PHC1 (N620S +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282585	NM_004426.3(PHC1):c.2560C>T (p.Arg854Cys)	PHC1 (R675C +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224158	NM_004426.3(PHC1):c.2567G>A (p.Arg856His)	PHC1 (R856H +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278469	NM_004426.3(PHC1):c.2605A>G (p.Lys869Glu)	PHC1 (K688E +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317119	NM_004426.3(PHC1):c.2840A>T (p.Glu947Val)	PHC1 (E760V +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298852	NM_004426.3(PHC1):c.2986G>A (p.Ala996Thr)	PHC1 (A773T +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38