Related gene-specific medical variations for Gene (Select 101927631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2854163	NM_003859.3(DPM1):c.459T>G (p.Gly153=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
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 2741227	NM_003859.3(DPM1):c.399-13A>T	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
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 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 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 2460040	NM_003859.3(DPM1):c.482G>T (p.Arg161Ile)	ADNP-AS1, DPM1 (R161I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2296246	NM_003859.3(DPM1):c.474T>A (p.Asp158Glu)	ADNP-AS1, DPM1 (D158E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2202785	NM_003859.3(DPM1):c.494+9A>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 2154958	NM_003859.3(DPM1):c.429C>T (p.Val143=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2150725	NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)	ADNP-AS1, DPM1 (L159F)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2143210	NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)	ADNP-AS1, DPM1 (E137K)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2124268	NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)	ADNP-AS1, DPM1 (G150R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 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 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 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 2074887	NM_003859.3(DPM1):c.460G>A (p.Val154Ile)	ADNP-AS1, DPM1 (V154I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2074460	NM_003859.3(DPM1):c.494+16dup	ADNP-AS1, DPM1	Duplication (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2073143	NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)	ADNP-AS1, DPM1 (K136E)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 2039058	NM_003859.3(DPM1):c.440G>A (p.Arg147His)	ADNP-AS1, DPM1 (R147H)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1500757	NM_003859.3(DPM1):c.494+2T>C	ADNP-AS1, DPM1	Single nucleotide variant (splice donor variant)	Congenital disorder of glycosylation type 1E	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 1328165	NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)	ADNP-AS1, DPM1 (R147C)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
Select item 1240483	NM_003859.3(DPM1):c.564-105T>C	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234584	NM_003859.3(DPM1):c.399-148C>T	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233770	NM_003859.3(DPM1):c.678+325C>T	DPM1, ADNP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219981	NM_003859.3(DPM1):c.399-250C>T	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	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
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 1203545	NM_003859.3(DPM1):c.679-8del	ADNP-AS1, DPM1	Deletion (intron variant)	not provided	GLikely benign
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 1195424	NM_003859.3(DPM1):c.495-130A>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1161255	NM_003859.3(DPM1):c.459T>C (p.Gly153=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	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 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 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 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 1104710	NM_003859.3(DPM1):c.494+9A>C	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1103223	NM_003859.3(DPM1):c.414T>C (p.Gly138=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	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 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 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 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 975226	NM_003859.3(DPM1):c.471G>C (p.Trp157Cys)	ADNP-AS1, DPM1 (W157C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
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 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 898458	NM_003859.3(DPM1):c.456A>G (p.Gly152=)	ADNP-AS1, DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
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 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 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 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 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 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 857465	NM_003859.3(DPM1):c.490_493del (p.Ile164fs)	ADNP-AS1, DPM1 (I164fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation type 1E	GPathogenic
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 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 848513	NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)	ADNP-AS1, DPM1 (D158A)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	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 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 795371	NM_003859.3(DPM1):c.494+7A>G	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 782192	NM_003859.3(DPM1):c.494+8C>T	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
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 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 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 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 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 583717	NC_000020.11:g.(?_50940845)_(50942146_?)del	ADNP-AS1, DPM1	Deletion	Congenital disorder of glycosylation type 1E	GLikely pathogenic
Select item 575891	NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)	DPM1, ADNP-AS1 (G138D)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance

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