AHCTF1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2524467	NM_001323342.2(AHCTF1):c.6784C>T (p.Arg2262Cys)	AHCTF1 (R2297C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232998	NM_001323342.2(AHCTF1):c.6702A>C (p.Lys2234Asn)	AHCTF1 (K2234N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246416	NM_001323342.2(AHCTF1):c.6670T>G (p.Leu2224Val)	AHCTF1 (L2233V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097899	NM_001323342.2(AHCTF1):c.6623A>G (p.Glu2208Gly)	AHCTF1 (E2243G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221402	NM_001323342.2(AHCTF1):c.6619A>G (p.Lys2207Glu)	AHCTF1 (K2207E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097893	NM_001323342.2(AHCTF1):c.6457A>G (p.Ile2153Val)	AHCTF1 (I2188V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276888	NM_001323342.2(AHCTF1):c.6299G>A (p.Arg2100Gln)	AHCTF1 (R2100Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317429	NM_001323342.2(AHCTF1):c.6262G>A (p.Ala2088Thr)	AHCTF1 (A2088T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402382	NM_001323342.2(AHCTF1):c.6202C>T (p.Arg2068Cys)	AHCTF1 (R2068C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321792	NM_001323342.2(AHCTF1):c.6158A>G (p.Glu2053Gly)	AHCTF1 (E2053G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097884	NM_001323342.2(AHCTF1):c.6115T>A (p.Ser2039Thr)	AHCTF1 (S2074T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295542	NM_001323342.2(AHCTF1):c.6056A>G (p.Asn2019Ser)	AHCTF1 (N2019S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507942	NM_001323342.2(AHCTF1):c.6050G>T (p.Ser2017Ile)	AHCTF1 (S2026I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540940	NM_001323342.2(AHCTF1):c.6028A>G (p.Thr2010Ala)	AHCTF1 (T2010A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608547	NM_001323342.2(AHCTF1):c.6016A>G (p.Arg2006Gly)	AHCTF1 (R2041G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372411	NM_001323342.2(AHCTF1):c.5986A>C (p.Ser1996Arg)	AHCTF1 (S1996R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599094	NM_001323342.2(AHCTF1):c.5920C>T (p.Arg1974Cys)	AHCTF1 (R1974C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461250	NM_001323342.2(AHCTF1):c.5900T>C (p.Met1967Thr)	AHCTF1 (M2002T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280699	NM_001323342.2(AHCTF1):c.5884C>G (p.Gln1962Glu)	AHCTF1 (Q1997E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481469	NM_001323342.2(AHCTF1):c.5827G>A (p.Val1943Ile)	AHCTF1 (V1978I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221409	NM_001323342.2(AHCTF1):c.5801A>G (p.His1934Arg)	AHCTF1 (H1934R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2610122	NM_001323342.2(AHCTF1):c.5792G>A (p.Arg1931His)	AHCTF1 (R1940H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640237	NM_001323342.2(AHCTF1):c.5765A>G (p.Asp1922Gly)	AHCTF1 (D1922G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2394132	NM_001323342.2(AHCTF1):c.5759A>C (p.Lys1920Thr)	AHCTF1 (K1929T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382785	NM_001323342.2(AHCTF1):c.5746A>C (p.Asn1916His)	AHCTF1 (N1951H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391194	NM_001323342.2(AHCTF1):c.5713A>G (p.Lys1905Glu)	AHCTF1 (K1914E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529925	NM_001323342.2(AHCTF1):c.5641A>G (p.Asn1881Asp)	AHCTF1 (N1881D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494235	NM_001323342.2(AHCTF1):c.5624T>C (p.Ile1875Thr)	AHCTF1 (I1875T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276922	NM_001323342.2(AHCTF1):c.5618G>A (p.Arg1873Lys)	AHCTF1 (R1873K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3097834	NM_001323342.2(AHCTF1):c.5617A>G (p.Arg1873Gly)	AHCTF1 (R1873G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346050	NM_001323342.2(AHCTF1):c.5605A>G (p.Lys1869Glu)	AHCTF1 (K1869E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373341	NM_001323342.2(AHCTF1):c.5555C>T (p.Pro1852Leu)	AHCTF1 (P1861L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570302	NM_001323342.2(AHCTF1):c.5485G>C (p.Val1829Leu)	AHCTF1 (V1829L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276963	NM_001323342.2(AHCTF1):c.5458C>G (p.Gln1820Glu)	AHCTF1 (Q1855E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268360	NM_001323342.2(AHCTF1):c.5450A>C (p.Glu1817Ala)	AHCTF1 (E1852A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276835	NM_001323342.2(AHCTF1):c.5392C>G (p.Gln1798Glu)	AHCTF1 (Q1833E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2399281	NM_001323342.2(AHCTF1):c.5367C>G (p.Ile1789Met)	AHCTF1 (I1798M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097818	NM_001323342.2(AHCTF1):c.5288C>G (p.Ala1763Gly)	AHCTF1 (A1772G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640238	NM_001323342.2(AHCTF1):c.5244C>T (p.Asn1748=)	AHCTF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3097812	NM_001323342.2(AHCTF1):c.5233C>T (p.Arg1745Cys)	AHCTF1 (R1754C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276861	NM_001323342.2(AHCTF1):c.5173A>C (p.Thr1725Pro)	AHCTF1 (T1734P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540939	NM_001323342.2(AHCTF1):c.5078T>G (p.Ile1693Ser)	AHCTF1 (I1702S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217747	NM_001323342.2(AHCTF1):c.5067G>A (p.Met1689Ile)	AHCTF1 (M1689I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610851	NM_001323342.2(AHCTF1):c.5066T>A (p.Met1689Lys)	AHCTF1 (M1724K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097801	NM_001323342.2(AHCTF1):c.5065A>G (p.Met1689Val)	AHCTF1 (M1724V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2403587	NM_001323342.2(AHCTF1):c.4958A>G (p.Lys1653Arg)	AHCTF1 (K1653R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209001	NM_001323342.2(AHCTF1):c.4901A>G (p.Asn1634Ser)	AHCTF1 (N1634S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276868	NM_001323342.2(AHCTF1):c.4886G>A (p.Ser1629Asn)	AHCTF1 (S1638N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276851	NM_001323342.2(AHCTF1):c.4880T>A (p.Val1627Glu)	AHCTF1 (V1662E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283734	NM_001323342.2(AHCTF1):c.4615A>G (p.Asn1539Asp)	AHCTF1 (N1548D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532082	NM_001323342.2(AHCTF1):c.4594G>C (p.Asp1532His)	AHCTF1 (D1532H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235228	NM_001323342.2(AHCTF1):c.4564G>A (p.Val1522Met)	AHCTF1 (V1557M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640239	NM_001323342.2(AHCTF1):c.4449G>A (p.Ala1483=)	AHCTF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2228754	NM_001323342.2(AHCTF1):c.4448C>T (p.Ala1483Val)	AHCTF1 (A1492V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2233225	NM_001323342.2(AHCTF1):c.4414A>G (p.Ile1472Val)	AHCTF1 (I1507V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3097787	NM_001323342.2(AHCTF1):c.4376A>G (p.Asp1459Gly)	AHCTF1 (D1459G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097783	NM_001323342.2(AHCTF1):c.4369C>T (p.Leu1457Phe)	AHCTF1 (L1457F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615823	NM_001323342.2(AHCTF1):c.4327C>T (p.Pro1443Ser)	AHCTF1 (P1443S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3276932	NM_001323342.2(AHCTF1):c.4319C>G (p.Thr1440Ser)	AHCTF1 (T1475S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611712	NM_001323342.2(AHCTF1):c.4319C>A (p.Thr1440Asn)	AHCTF1 (T1440N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222459	NM_001323342.2(AHCTF1):c.4298A>G (p.Glu1433Gly)	AHCTF1 (E1468G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457494	NM_001323342.2(AHCTF1):c.4297G>A (p.Glu1433Lys)	AHCTF1 (E1442K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097766	NM_001323342.2(AHCTF1):c.4177G>C (p.Glu1393Gln)	AHCTF1 (E1428Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276952	NM_001323342.2(AHCTF1):c.4175C>T (p.Ala1392Val)	AHCTF1 (A1401V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284167	NM_001323342.2(AHCTF1):c.4136A>G (p.Asn1379Ser)	AHCTF1 (N1388S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616655	NM_001323342.2(AHCTF1):c.4124A>T (p.Lys1375Ile)	AHCTF1 (K1375I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097753	NM_001323342.2(AHCTF1):c.4040T>C (p.Leu1347Pro)	AHCTF1 (L1356P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097747	NM_001323342.2(AHCTF1):c.3988C>T (p.Leu1330Phe)	AHCTF1 (L1339F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3097742	NM_001323342.2(AHCTF1):c.3980C>T (p.Pro1327Leu)	AHCTF1 (P1362L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473361	NM_001323342.2(AHCTF1):c.3815G>A (p.Ser1272Asn)	AHCTF1 (S1272N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3097739	NM_001323342.2(AHCTF1):c.3784G>A (p.Ala1262Thr)	AHCTF1 (A1262T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377380	NM_001323342.2(AHCTF1):c.3769A>G (p.Thr1257Ala)	AHCTF1 (T1292A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276894	NM_001323342.2(AHCTF1):c.3705A>T (p.Glu1235Asp)	AHCTF1 (E1235D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 619032	NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter)	AHCTF1 (R1234* +1 more)	Single nucleotide variant (nonsense +1 more)	Delayed speech and language development +2 more	GUncertain significance
Select item 2237717	NM_001323342.2(AHCTF1):c.3655C>T (p.Pro1219Ser)	AHCTF1 (P1254S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097733	NM_001323342.2(AHCTF1):c.3568A>T (p.Thr1190Ser)	AHCTF1 (T1199S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266516	NM_001323342.2(AHCTF1):c.3512A>G (p.His1171Arg)	AHCTF1 (H1171R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276885	NM_001323342.2(AHCTF1):c.3464C>T (p.Ser1155Leu)	AHCTF1 (S1155L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544520	NM_001323342.2(AHCTF1):c.3398A>T (p.Glu1133Val)	AHCTF1 (E1168V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097721	NM_001323342.2(AHCTF1):c.3395C>T (p.Ser1132Leu)	AHCTF1 (S1141L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3097718	NM_001323342.2(AHCTF1):c.3377C>G (p.Pro1126Arg)	AHCTF1 (P1126R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097714	NM_001323342.2(AHCTF1):c.3348A>T (p.Arg1116Ser)	AHCTF1 (R1116S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328543	NM_001323342.2(AHCTF1):c.3325A>G (p.Lys1109Glu)	AHCTF1 (K1109E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276905	NM_001323342.2(AHCTF1):c.3313A>G (p.Thr1105Ala)	AHCTF1 (T1105A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542402	NM_001323342.2(AHCTF1):c.3139A>G (p.Thr1047Ala)	AHCTF1 (T1056A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263980	NM_001323342.2(AHCTF1):c.3044G>A (p.Arg1015Gln)	AHCTF1 (R1024Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374114	NM_001323342.2(AHCTF1):c.3038T>C (p.Ile1013Thr)	AHCTF1 (I1013T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464196	NM_001323342.2(AHCTF1):c.2986A>G (p.Ile996Val)	AHCTF1 (I1005V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385711	NM_001323342.2(AHCTF1):c.2888A>G (p.Asn963Ser)	AHCTF1 (N963S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570060	NM_001323342.2(AHCTF1):c.2842G>A (p.Val948Ile)	AHCTF1 (V983I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640240	NM_001323342.2(AHCTF1):c.2694A>G (p.Gln898=)	AHCTF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3097698	NM_001323342.2(AHCTF1):c.2661G>A (p.Arg887=)	AHCTF1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2349285	NM_001323342.2(AHCTF1):c.2623G>A (p.Asp875Asn)	AHCTF1 (D875N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208775	NM_001323342.2(AHCTF1):c.2551A>T (p.Met851Leu)	AHCTF1 (M860L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323128	NM_001323342.2(AHCTF1):c.2528A>G (p.His843Arg)	AHCTF1 (H852R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097681	NM_001323342.2(AHCTF1):c.2458C>T (p.His820Tyr)	AHCTF1 (H820Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410708	NM_001323342.2(AHCTF1):c.2410A>G (p.Ile804Val)	AHCTF1 (I839V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615976	NM_001323342.2(AHCTF1):c.2407G>T (p.Ala803Ser)	AHCTF1 (A803S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276912	NM_001323342.2(AHCTF1):c.2213A>C (p.Lys738Thr)	AHCTF1 (K747T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511587	NM_001323342.2(AHCTF1):c.2204G>A (p.Arg735Gln)	AHCTF1 (R770Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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