8813[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 278

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 656838	NC_000020.11:g.(?_50934864)_(50958574_?)del	ADNP-AS1, DPM1 +1 more	Deletion	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 897285	NM_003859.3(DPM1):c.*248T>A	ADNP-AS1, DPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 338749	NM_003859.3(DPM1):c.*191A>G	DPM1, ADNP-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 897286	NM_003859.3(DPM1):c.*159A>G	ADNP-AS1, DPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 898454	NM_003859.3(DPM1):c.*117A>G	ADNP-AS1, DPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1196480	NM_003859.3(DPM1):c.*30A>G	ADNP-AS1, DPM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 385237	NM_003859.3(DPM1):c.*19T>A	ADNP-AS1, DPM1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 898455	NM_003859.3(DPM1):c.*12T>C	ADNP-AS1, DPM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 338750	NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)	ADNP-AS1, DPM1 (T260I +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2736804	NM_003859.3(DPM1):c.768T>C (p.Leu256=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 650050	NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)	ADNP-AS1, DPM1 (T255A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 338751	NM_003859.3(DPM1):c.759A>G (p.Leu253=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
Select item 533132	NM_003859.3(DPM1):c.757T>G (p.Leu253Val)	ADNP-AS1, DPM1 (L253V +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 850062	NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)	ADNP-AS1, DPM1 (G229R +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 100634	NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)	ADNP-AS1, DPM1 (S248P +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely pathogenic
Select item 1563817	NM_003859.3(DPM1):c.726A>G (p.Gly242=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1433475	NM_003859.3(DPM1):c.706T>C (p.Tyr236His)	ADNP-AS1, DPM1 (Y213H +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 1123790	NM_003859.3(DPM1):c.702T>C (p.Arg234=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 429484	NM_003859.3(DPM1):c.701G>A (p.Arg234His)	ADNP-AS1, DPM1 (R234H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1046123	NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)	ADNP-AS1, DPM1 (D210G +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1497215	NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)	DPM1, ADNP-AS1 (F266S +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1034691	NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)	ADNP-AS1, DPM1 (S207A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 565495	NM_003859.3(DPM1):c.685A>G (p.Ile229Val)	ADNP-AS1, DPM1 (I229V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2014637	NM_003859.3(DPM1):c.684A>C (p.Pro228=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 464507	NM_003859.3(DPM1):c.684A>G (p.Pro228=)	DPM1, ADNP-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 464506	NM_003859.3(DPM1):c.679-7_679-6insTTT	ADNP-AS1, DPM1	Insertion (intron variant)	Congenital disorder of glycosylation type 1E	GBenign
Select item 338752	NM_003859.3(DPM1):c.679-7_679-6insT	ADNP-AS1, DPM1	Insertion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 235463	NM_003859.3(DPM1):c.679-7_679-6insTT	ADNP-AS1, DPM1	Insertion (intron variant)	Congenital disorder of glycosylation type 1E +2 more	GBenign/Likely benign
Select item 2175537	NM_003859.3(DPM1):c.679-9_679-8dup	ADNP-AS1, DPM1	Duplication (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 516399	NM_003859.3(DPM1):c.679-8dup	ADNP-AS1, DPM1	Duplication (intron variant)	Congenital disorder of glycosylation type 1E +1 more	GBenign
Select item 94380	NM_003859.3(DPM1):c.679-7A>T	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E +2 more	GBenign
Select item 1578172	NM_003859.3(DPM1):c.679-8T>A	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1203545	NM_003859.3(DPM1):c.679-8del	ADNP-AS1, DPM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2116027	NM_003859.3(DPM1):c.679-12T>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1131060	NM_003859.3(DPM1):c.679-12T>A	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1205376	NM_003859.3(DPM1):c.679-165T>A	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233770	NM_003859.3(DPM1):c.678+325C>T	DPM1, ADNP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1558885	NM_003859.3(DPM1):c.678+18A>C	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1349594	NM_003859.3(DPM1):c.678+15C>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1567119	NM_003859.3(DPM1):c.678+9C>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 704296	NM_003859.3(DPM1):c.678+9C>T	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1100336	NM_003859.3(DPM1):c.678+8A>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2093760	NM_003859.3(DPM1):c.678+6C>A	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1035937	NM_003859.3(DPM1):c.678+4T>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 946536	NM_003859.3(DPM1):c.678+1G>C	ADNP-AS1, DPM1	Single nucleotide variant (splice donor variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 849506	NM_003859.3(DPM1):c.675C>T (p.Gly225=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1386747	NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)	ADNP-AS1, DPM1 (I259N +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 728418	NM_003859.3(DPM1):c.669T>C (p.Thr223=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GLikely benign
Select item 1138342	NM_003859.3(DPM1):c.658T>C (p.Leu220=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1483623	NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)	ADNP-AS1, DPM1 (Q196R +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1476452	NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)	ADNP-AS1, DPM1 (A194T +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
Select item 1430973	NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)	ADNP-AS1, DPM1 (R216Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2268065	NM_003859.3(DPM1):c.646C>T (p.Arg216Trp)	ADNP-AS1, DPM1 (R251W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 937440	NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)	ADNP-AS1, DPM1 (I214T +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 393160	NM_003859.3(DPM1):c.634G>C (p.Glu212Gln)	ADNP-AS1, DPM1 (E212Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101857	NM_003859.3(DPM1):c.632T>C (p.Met211Thr)	ADNP-AS1, DPM1 (M211T +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 6298	NM_003859.3(DPM1):c.628del (p.Gln210fs)	ADNP-AS1, DPM1 (Q237fs +3 more)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 898456	NM_003859.3(DPM1):c.622G>A (p.Val208Ile)	ADNP-AS1, DPM1 (V185I +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 716714	NM_003859.3(DPM1):c.621C>T (p.Tyr207=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1437109	NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)	ADNP-AS1, DPM1 (Y184C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2706051	NM_003859.3(DPM1):c.618C>T (p.Gly206=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2039921	NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)	ADNP-AS1, DPM1 (G241A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1426782	NM_003859.3(DPM1):c.617G>T (p.Gly206Val)	ADNP-AS1, DPM1 (G183V +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 498712	NM_003859.3(DPM1):c.613A>G (p.Lys205Glu)	ADNP-AS1, DPM1 (K205E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 842476	NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)	ADNP-AS1, DPM1 (C229Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2839724	NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)	ADNP-AS1, DPM1 (K232T +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 658015	NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)	ADNP-AS1, DPM1 (E193D +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2422049	NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)	ADNP-AS1, DPM1 (R168Q +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1444616	NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)	ADNP-AS1, DPM1 (R218* +3 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 898457	NM_003859.3(DPM1):c.570C>T (p.Tyr190=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
Select item 1651975	NM_003859.3(DPM1):c.567A>G (p.Leu189=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 100637	NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del	ADNP-AS1, DPM1	Deletion	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 1607088	NM_003859.3(DPM1):c.564-24AT[3]	ADNP-AS1, DPM1	Microsatellite (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1607780	NM_003859.3(DPM1):c.564-20A>G	DPM1, ADNP-AS1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1240483	NM_003859.3(DPM1):c.564-105T>C	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 583717	NC_000020.11:g.(?_50940845)_(50942146_?)del	ADNP-AS1, DPM1	Deletion	Congenital disorder of glycosylation type 1E	GLikely pathogenic
Select item 1583872	NM_003859.3(DPM1):c.563+15T>C	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1118481	NM_003859.3(DPM1):c.552A>C (p.Thr184=)	ADNP-AS1, DPM1	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 3085504	NM_003859.3(DPM1):c.545A>C (p.Asp182Ala)	ADNP-AS1, DPM1 (D209A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2339784	NM_003859.3(DPM1):c.533C>T (p.Pro178Leu)	ADNP-AS1, DPM1 (P205L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1998916	NM_003859.3(DPM1):c.527_533del (p.Leu176fs)	ADNP-AS1, DPM1 (L176fs +2 more)	Deletion (frameshift variant +2 more)	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 2007176	NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)	ADNP-AS1, DPM1 (I174S +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 839789	NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)	ADNP-AS1, DPM1 (T207S +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 167008	NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)	ADNP-AS1, DPM1 (N169S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1375951	NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)	ADNP-AS1, DPM1 (R201C +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2023666	NM_003859.3(DPM1):c.495-1G>T	ADNP-AS1, DPM1	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital disorder of glycosylation type 1E	GLikely pathogenic
Select item 2011833	NM_003859.3(DPM1):c.495-15T>G	ADNP-AS1, DPM1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2077667	NM_003859.3(DPM1):c.495-18G>C	ADNP-AS1, DPM1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1195424	NM_003859.3(DPM1):c.495-130A>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3052672	NM_003859.3(DPM1):c.495-174C>T	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	DPM1-related disorder	GLikely benign
Select item 1675243	NM_003859.3(DPM1):c.495-195G>C	ADNP-AS1, DPM1 (R192S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2652406	NM_003859.3(DPM1):c.495-249C>G	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1206732	NM_003859.3(DPM1):c.494+217G>A	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3