ANKEF1[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 3120540	NM_022096.6(ANKEF1):c.43A>C (p.Lys15Gln)	ANKEF1, SNAP25-AS1 (K15Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377695	NM_022096.6(ANKEF1):c.112G>A (p.Glu38Lys)	ANKEF1, SNAP25-AS1 (E38K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546367	NM_022096.6(ANKEF1):c.121A>G (p.Asn41Asp)	ANKEF1, SNAP25-AS1 (N41D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2278486	NM_022096.6(ANKEF1):c.176A>G (p.Asn59Ser)	ANKEF1, SNAP25-AS1 (N59S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2248865	NM_022096.6(ANKEF1):c.226G>A (p.Val76Met)	ANKEF1, SNAP25-AS1 (V76M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388967	NM_022096.6(ANKEF1):c.236G>A (p.Arg79Gln)	ANKEF1, SNAP25-AS1 (R79Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519751	NM_022096.6(ANKEF1):c.268G>C (p.Glu90Gln)	ANKEF1, SNAP25-AS1 (E90Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530229	NM_022096.6(ANKEF1):c.277C>T (p.His93Tyr)	ANKEF1, SNAP25-AS1 (H93Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2262668	NM_022096.6(ANKEF1):c.307G>A (p.Ala103Thr)	ANKEF1, SNAP25-AS1 (A103T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455252	NM_022096.6(ANKEF1):c.376A>G (p.Lys126Glu)	ANKEF1, SNAP25-AS1 (K126E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2350561	NM_022096.6(ANKEF1):c.394G>T (p.Ala132Ser)	ANKEF1, SNAP25-AS1 (A132S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2390700	NM_022096.6(ANKEF1):c.404C>T (p.Ala135Val)	ANKEF1, SNAP25-AS1 (A135V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3120546	NM_022096.6(ANKEF1):c.454A>T (p.Ile152Leu)	ANKEF1, SNAP25-AS1 (I152L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609008	NM_022096.6(ANKEF1):c.505A>T (p.Thr169Ser)	ANKEF1, SNAP25-AS1 (T169S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3120550	NM_022096.6(ANKEF1):c.538A>G (p.Ile180Val)	ANKEF1, SNAP25-AS1 (I180V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3120552	NM_022096.6(ANKEF1):c.556C>T (p.Arg186Cys)	ANKEF1, SNAP25-AS1 (R186C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459258	NM_022096.6(ANKEF1):c.557G>A (p.Arg186His)	ANKEF1, SNAP25-AS1 (R186H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461215	NM_022096.6(ANKEF1):c.563C>A (p.Ala188Asp)	ANKEF1, SNAP25-AS1 (A188D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219539	NM_022096.6(ANKEF1):c.643G>C (p.Asp215His)	ANKEF1, SNAP25-AS1 (D215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475950	NM_022096.6(ANKEF1):c.667C>T (p.His223Tyr)	ANKEF1, SNAP25-AS1 (H34Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323199	NM_022096.6(ANKEF1):c.698T>C (p.Ile233Thr)	ANKEF1, SNAP25-AS1 (I233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369154	NM_022096.6(ANKEF1):c.701T>C (p.Leu234Ser)	ANKEF1, SNAP25-AS1 (L234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485634	NM_022096.6(ANKEF1):c.719A>T (p.Tyr240Phe)	ANKEF1, SNAP25-AS1 (Y240F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598211	NM_022096.6(ANKEF1):c.852T>G (p.His284Gln)	ANKEF1, LOC126862970 +1 more (H284Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329719	NM_022096.6(ANKEF1):c.922A>G (p.Arg308Gly)	ANKEF1, LOC126862970 +1 more (R119G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608645	NM_022096.6(ANKEF1):c.945G>T (p.Arg315Ser)	ANKEF1, LOC126862970 +1 more (R126S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280465	NM_022096.6(ANKEF1):c.967C>T (p.Pro323Ser)	ANKEF1, LOC126862970 +1 more (P134S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550260	NM_022096.6(ANKEF1):c.976G>T (p.Ala326Ser)	ANKEF1, LOC126862970 +1 more (A326S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259566	NM_022096.6(ANKEF1):c.1006C>T (p.Arg336Cys)	ANKEF1, LOC126862970 +1 more (R147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257441	NM_022096.6(ANKEF1):c.1018C>T (p.Leu340Phe)	ANKEF1, LOC126862970 +1 more (L340F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120414	NM_022096.6(ANKEF1):c.1045A>G (p.Arg349Gly)	ANKEF1, LOC126862970 +1 more (R160G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336222	NM_022096.6(ANKEF1):c.1063A>G (p.Ser355Gly)	ANKEF1, LOC126862970 +1 more (S355G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467534	NM_022096.6(ANKEF1):c.1078G>A (p.Val360Met)	ANKEF1, LOC126862970 +1 more (V171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120426	NM_022096.6(ANKEF1):c.1157G>A (p.Arg386Gln)	ANKEF1, LOC126862970 +1 more (R197Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394852	NM_022096.6(ANKEF1):c.1163G>A (p.Gly388Glu)	ANKEF1, LOC126862970 +1 more (G199E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333759	NM_022096.6(ANKEF1):c.1190A>T (p.Lys397Ile)	ANKEF1, LOC126862970 +1 more (K208I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120436	NM_022096.6(ANKEF1):c.1259T>A (p.Met420Lys)	ANKEF1, LOC126862970 +1 more (M420K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387102	NM_022096.6(ANKEF1):c.1370A>G (p.Glu457Gly)	ANKEF1, LOC126862970 +1 more (E457G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363894	NM_022096.6(ANKEF1):c.1399C>T (p.Arg467Trp)	ANKEF1, LOC126862970 +1 more (R467W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458653	NM_022096.6(ANKEF1):c.1400G>A (p.Arg467Gln)	ANKEF1, LOC126862970 +1 more (R467Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373437	NM_022096.6(ANKEF1):c.1487T>A (p.Ile496Asn)	ANKEF1, LOC126862970 +1 more (I496N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310705	NM_022096.6(ANKEF1):c.1583C>A (p.Pro528Gln)	ANKEF1, LOC126862970 +1 more (P339Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246972	NM_022096.6(ANKEF1):c.1679C>T (p.Thr560Ile)	ANKEF1, SNAP25-AS1 (T560I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120457	NM_022096.6(ANKEF1):c.1700A>G (p.His567Arg)	ANKEF1, SNAP25-AS1 (H378R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300874	NM_022096.6(ANKEF1):c.1814A>T (p.Asp605Val)	ANKEF1, SNAP25-AS1 (D605V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329444	NM_022096.6(ANKEF1):c.1876A>G (p.Ser626Gly)	ANKEF1, SNAP25-AS1 (S626G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120481	NM_022096.6(ANKEF1):c.1882A>G (p.Met628Val)	ANKEF1, SNAP25-AS1 (M439V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279579	NM_022096.6(ANKEF1):c.1883T>C (p.Met628Thr)	ANKEF1, SNAP25-AS1 (M439T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120484	NM_022096.6(ANKEF1):c.1979A>G (p.Lys660Arg)	ANKEF1, SNAP25-AS1 (K471R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355214	NM_022096.6(ANKEF1):c.1991C>T (p.Pro664Leu)	ANKEF1, SNAP25-AS1 (P475L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549435	NM_022096.6(ANKEF1):c.2037A>T (p.Glu679Asp)	ANKEF1, SNAP25-AS1 (E490D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206169	NM_022096.6(ANKEF1):c.2045C>A (p.Ser682Ter)	ANKEF1, SNAP25-AS1 (S493* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3120496	NM_022096.6(ANKEF1):c.2116T>G (p.Ser706Ala)	ANKEF1, SNAP25-AS1 (S517A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120500	NM_022096.6(ANKEF1):c.2135A>T (p.Tyr712Phe)	ANKEF1, SNAP25-AS1 (Y523F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596260	NM_022096.6(ANKEF1):c.2137A>G (p.Thr713Ala)	ANKEF1, SNAP25-AS1 (T524A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227579	NM_022096.6(ANKEF1):c.2168G>A (p.Arg723Gln)	ANKEF1, SNAP25-AS1 (R723Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255408	NM_022096.6(ANKEF1):c.2182C>A (p.Pro728Thr)	ANKEF1, SNAP25-AS1 (P539T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590362	NM_022096.6(ANKEF1):c.2191A>G (p.Thr731Ala)	ANKEF1, SNAP25-AS1 (T542A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062413	GRCh37/hg19 20p12.2(chr20:9596286-10678665)x1	ANKEF1, JAG1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1526679	GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)	ANKEF1, BTBD3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1440938	NC_000020.10:g.(?_7812350)_(10654278_?)dup	ANKEF1, HAO1 +9 more	Duplication	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

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Items: 89