15803[HGNC] - ClinVar

Search results

Items: 97

	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	LOC129456123, LOC130065248 +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	ADAM33, ADISSP +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	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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	LOC613266, MACROD2 +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 3295734	NM_022096.6(ANKEF1):c.49C>A (p.Leu17Ile)	ANKEF1, SNAP25-AS1 (L17I)	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 3295695	NM_022096.6(ANKEF1):c.575C>T (p.Ala192Val)	ANKEF1, SNAP25-AS1 (A3V +1 more)	Single nucleotide variant (missense variant)	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 3295745	NM_022096.6(ANKEF1):c.1243A>G (p.Lys415Glu)	ANKEF1, LOC126862970 +1 more (K415E +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 3295714	NM_022096.6(ANKEF1):c.1854G>C (p.Gln618His)	ANKEF1, SNAP25-AS1 (Q429H +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 3295757	NM_022096.6(ANKEF1):c.1993C>T (p.Pro665Ser)	ANKEF1, SNAP25-AS1 (P476S +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 3295724	NM_022096.6(ANKEF1):c.2203C>G (p.Leu735Val)	ANKEF1, SNAP25-AS1 (L546V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338444	GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1	ANKEF1, BMP2 +22 more	Copy number loss	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3248283	NC_000020.10:g.(?_7812350)_(10654278_?)del	ANKEF1, HAO1 +9 more	Deletion	Alagille syndrome due to a JAG1 point mutation +1 more	GPathogenic
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	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +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	ANKEF1, BANF2 +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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 97