AHCTF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	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 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	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 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
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 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	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 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 57850	GRCh38/hg38 1q44(chr1:246031245-247245758)x3	LOC129932934, LOC129932935 +60 more	Copy number gain	See cases	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 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

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