ClinVar for Gene (Select 25909) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276971	NM_001323342.2(AHCTF1):c.1135A>G (p.Ser379Gly)	AHCTF1 (S414G +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 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 3276943	NM_001323342.2(AHCTF1):c.900T>G (p.Ser300Arg)	AHCTF1 (S309R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3276897	NM_001323342.2(AHCTF1):c.1082G>A (p.Arg361Gln)	AHCTF1 (R396Q +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 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 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 3276878	NM_001323342.2(AHCTF1):c.28A>C (p.Ser10Arg)	AHCTF1 (S10R +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 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 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 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 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3097930	NM_001323342.2(AHCTF1):c.791A>G (p.Gln264Arg)	AHCTF1 (Q273R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3097928	NM_001323342.2(AHCTF1):c.775C>A (p.Gln259Lys)	AHCTF1 (Q259K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097924	NM_001323342.2(AHCTF1):c.766T>C (p.Tyr256His)	AHCTF1 (Y256H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097911	NM_001323342.2(AHCTF1):c.721G>A (p.Asp241Asn)	AHCTF1 (D250N +2 more)	Single nucleotide variant (missense variant +1 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 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 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 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 3097827	NM_001323342.2(AHCTF1):c.533A>G (p.Asn178Ser)	AHCTF1 (N178S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 3097698	NM_001323342.2(AHCTF1):c.2661G>A (p.Arg887=)	AHCTF1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 3097668	NM_001323342.2(AHCTF1):c.2116C>T (p.Arg706Cys)	AHCTF1 (R715C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097665	NM_001323342.2(AHCTF1):c.2105A>G (p.Tyr702Cys)	AHCTF1 (Y702C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097663	NM_001323342.2(AHCTF1):c.2054A>G (p.Asp685Gly)	AHCTF1 (D694G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097649	NM_001323342.2(AHCTF1):c.1564C>T (p.Leu522Phe)	AHCTF1 (L522F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097645	NM_001323342.2(AHCTF1):c.1559G>A (p.Arg520Gln)	AHCTF1 (R555Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097631	NM_001323342.2(AHCTF1):c.1016T>C (p.Met339Thr)	AHCTF1 (M374T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685846	GRCh37/hg19 1q44(chr1:246815052-247133893)x3	AHCTF1, CNST +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
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 2640239	NM_001323342.2(AHCTF1):c.4449G>A (p.Ala1483=)	AHCTF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2616417	NM_001323342.2(AHCTF1):c.8A>T (p.Asp3Val)	AHCTF1 (D3V +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 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 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 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 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 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 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 2598080	NM_001323342.2(AHCTF1):c.730C>G (p.Leu244Val)	AHCTF1 (L244V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589866	NM_001323342.2(AHCTF1):c.86C>T (p.Thr29Ile)	AHCTF1 (T29I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	LOC126806079, LOC126806080 +119 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
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 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 2554899	NM_001323342.2(AHCTF1):c.2173A>G (p.Ile725Val)	AHCTF1 (I734V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548514	NM_001323342.2(AHCTF1):c.1672C>G (p.Leu558Val)	AHCTF1 (L593V +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 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 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 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 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 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 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 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
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 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
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 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 2480227	NM_001323342.2(AHCTF1):c.-8+263C>G	AHCTF1 (R5G)	Single nucleotide variant (5 prime UTR variant +2 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 2467891	NM_001323342.2(AHCTF1):c.484G>A (p.Val162Ile)	AHCTF1 (V162I +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 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 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 2456638	NM_001323342.2(AHCTF1):c.728A>G (p.Tyr243Cys)	AHCTF1 (Y278C +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 2407562	NM_001323342.2(AHCTF1):c.358G>A (p.Val120Ile)	AHCTF1 (V120I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406590	NM_001323342.2(AHCTF1):c.221A>G (p.Asn74Ser)	AHCTF1 (N74S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405593	NM_001323342.2(AHCTF1):c.404A>G (p.His135Arg)	AHCTF1 (H144R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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

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