CHPF[gene] and "single gene"[properties] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2374073	NM_024536.6(CHPF):c.2314G>A (p.Gly772Ser)	CHPF (G772S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144511	NM_024536.6(CHPF):c.2279C>A (p.Thr760Asn)	CHPF (T598N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267096	NM_024536.6(CHPF):c.2234A>C (p.Tyr745Ser)	CHPF (Y583S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267095	NM_024536.6(CHPF):c.2221A>G (p.Ser741Gly)	CHPF (S579G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521473	NM_024536.6(CHPF):c.2212G>A (p.Ala738Thr)	CHPF (A576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267094	NM_024536.6(CHPF):c.2194C>T (p.Arg732Trp)	CHPF (R732W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394960	NM_024536.6(CHPF):c.2189G>A (p.Arg730His)	CHPF (R568H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144509	NM_024536.6(CHPF):c.2165C>T (p.Ala722Val)	CHPF (A722V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144508	NM_024536.6(CHPF):c.2146A>G (p.Ser716Gly)	CHPF (S716G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144507	NM_024536.6(CHPF):c.2134C>T (p.Leu712Phe)	CHPF (L550F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616352	NM_024536.6(CHPF):c.2131T>A (p.Phe711Ile)	CHPF (F711I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144506	NM_024536.6(CHPF):c.2099A>T (p.Glu700Val)	CHPF (E700V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377151	NM_024536.6(CHPF):c.2098G>A (p.Glu700Lys)	CHPF (E538K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786494	NM_024536.6(CHPF):c.2097G>A (p.Glu699=)	CHPF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144505	NM_024536.6(CHPF):c.2095G>C (p.Glu699Gln)	CHPF (E537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403995	NM_024536.6(CHPF):c.2092G>C (p.Glu698Gln)	CHPF (E536Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239257	NM_024536.6(CHPF):c.2092G>A (p.Glu698Lys)	CHPF (E698K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507567	NM_024536.6(CHPF):c.2086G>C (p.Glu696Gln)	CHPF (E534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144503	NM_024536.6(CHPF):c.2026G>A (p.Glu676Lys)	CHPF (E514K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267087	NM_024536.6(CHPF):c.1946C>G (p.Pro649Arg)	CHPF (P487R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144502	NM_024536.6(CHPF):c.1926G>A (p.Met642Ile)	CHPF (M642I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269543	NM_024536.6(CHPF):c.1911G>C (p.Gln637His)	CHPF (Q475H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592191	NM_024536.6(CHPF):c.1880G>A (p.Arg627His)	CHPF (R465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238532	NM_024536.6(CHPF):c.1843G>A (p.Gly615Arg)	CHPF (G615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277435	NM_024536.6(CHPF):c.1742G>A (p.Arg581Gln)	CHPF (R581Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464131	NM_024536.6(CHPF):c.1727G>A (p.Arg576His)	CHPF (R414H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516299	NM_024536.6(CHPF):c.1694C>T (p.Pro565Leu)	CHPF (P403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257366	NM_024536.6(CHPF):c.1693C>T (p.Pro565Ser)	CHPF (P403S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469995	NM_024536.6(CHPF):c.1667G>A (p.Arg556His)	CHPF (R556H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596541	NM_024536.6(CHPF):c.1654C>T (p.Arg552Cys)	CHPF (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293552	NM_024536.6(CHPF):c.1616C>T (p.Ala539Val)	CHPF (A539V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267093	NM_024536.6(CHPF):c.1612G>A (p.Asp538Asn)	CHPF (D538N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371816	NM_024536.6(CHPF):c.1556G>A (p.Arg519His)	CHPF (R357H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373740	NM_024536.6(CHPF):c.1520G>A (p.Arg507His)	CHPF (R345H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599464	NM_024536.6(CHPF):c.1478G>A (p.Arg493His)	CHPF (R493H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487562	NM_024536.6(CHPF):c.1465C>T (p.Arg489Trp)	CHPF (R327W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231340	NM_024536.6(CHPF):c.1448G>A (p.Arg483His)	CHPF (R483H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523989	NM_024536.6(CHPF):c.1447C>T (p.Arg483Cys)	CHPF (R321C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262333	NM_024536.6(CHPF):c.1433G>A (p.Arg478His)	CHPF (R316H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144499	NM_024536.6(CHPF):c.1324C>T (p.Arg442Trp)	CHPF (R280W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387552	NM_024536.6(CHPF):c.1292A>G (p.Glu431Gly)	CHPF (E431G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374494	NM_024536.6(CHPF):c.1270G>A (p.Asp424Asn)	CHPF (D424N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144498	NM_024536.6(CHPF):c.1232G>A (p.Arg411His)	CHPF (R249H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144497	NM_024536.6(CHPF):c.1178G>A (p.Arg393His)	CHPF (R231H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211691	NM_024536.6(CHPF):c.1129G>A (p.Val377Met)	CHPF (V215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458654	NM_024536.6(CHPF):c.1073A>G (p.Glu358Gly)	CHPF (E196G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595269	NM_024536.6(CHPF):c.1058A>G (p.Gln353Arg)	CHPF (Q353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310374	NM_024536.6(CHPF):c.1028C>G (p.Ala343Gly)	CHPF (A343G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608816	NM_024536.6(CHPF):c.1025G>A (p.Arg342Gln)	CHPF (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225489	NM_024536.6(CHPF):c.1021G>A (p.Ala341Thr)	CHPF (A179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267091	NM_024536.6(CHPF):c.956G>A (p.Arg319Gln)	CHPF (R157Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604773	NM_024536.6(CHPF):c.947C>T (p.Pro316Leu)	CHPF (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144516	NM_024536.6(CHPF):c.715C>G (p.Pro239Ala)	CHPF (P77A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337942	NM_024536.6(CHPF):c.707A>G (p.Glu236Gly)	CHPF (E74G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144515	NM_024536.6(CHPF):c.668A>G (p.His223Arg)	CHPF (H223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267088	NM_024536.6(CHPF):c.640G>C (p.Gly214Arg)	CHPF (G52R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267092	NM_024536.6(CHPF):c.521T>C (p.Ile174Thr)	CHPF (I12T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144513	NM_024536.6(CHPF):c.409G>T (p.Val137Leu)	CHPF (V137L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 58