ClinVar for MedGen (Select 324784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248272	NC_000020.10:g.(?_49520406)_(49571842_?)del	ADNP, DPM1	Deletion	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 3005112	NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)	DPM1 (I61T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2968074	NM_003859.3(DPM1):c.267A>G (p.Leu89=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2956229	NM_003859.3(DPM1):c.262-19C>T	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2913210	NM_003859.3(DPM1):c.372+12G>A	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2882729	NM_003859.3(DPM1):c.262-19C>A	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	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 2852669	NM_003859.3(DPM1):c.345T>C (p.Ile115=)	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 2823859	NM_003859.3(DPM1):c.368A>G (p.His123Arg)	DPM1 (H123R)	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 2740781	NM_003859.3(DPM1):c.296-14A>C	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 2729931	NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)	DPM1, LOC130066166 (P10T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2729447	NM_003859.3(DPM1):c.67C>A (p.Arg23=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2718570	NM_003859.3(DPM1):c.123G>A (p.Pro41=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2712030	NM_003859.3(DPM1):c.182del (p.Ile61fs)	DPM1 (I61fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation type 1E	GPathogenic
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 2441025	NM_003859.3(DPM1):c.152_154del (p.Phe51del)	DPM1, LOC130066166 (F51del)	Deletion (inframe_deletion +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2424782	NC_000020.10:g.(?_49507942)_(49576762_?)del	ADNP, DPM1 +1 more	Deletion	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 2424781	NC_000020.10:g.(?_49557382)_(49558683_?)dup	DPM1	Duplication	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 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 2175012	NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)	DPM1, LOC130066166 (S21N)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2174079	NM_003859.3(DPM1):c.30T>C (p.Pro10=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2168264	NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)	DPM1, LOC130066166 (Q24E)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2163180	NM_003859.3(DPM1):c.16G>A (p.Val6Ile)	DPM1, LOC130066166 (V6I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2162882	NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)	DPM1, LOC130066166 (S13C)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
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 2152933	NM_003859.3(DPM1):c.398+20T>C	DPM1	Single nucleotide variant (intron variant)	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 2150002	NM_003859.3(DPM1):c.295+6T>C	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2149835	NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)	DPM1, LOC130066166 (R8S)	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 2080516	NM_003859.3(DPM1):c.303A>T (p.Ala101=)	DPM1	Single nucleotide variant (synonymous 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 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 2066359	NM_003859.3(DPM1):c.18C>T (p.Val6=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2063790	NM_003859.3(DPM1):c.10T>C (p.Leu4=)	DPM1, LOC130066166	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 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 2038593	NM_003859.3(DPM1):c.161+20_161+22del	DPM1, LOC130066166	Deletion (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
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 2016876	NM_003859.3(DPM1):c.358G>C (p.Asp120His)	DPM1 (D120H)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2016152	NM_003859.3(DPM1):c.87G>C (p.Val29=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
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 2014037	NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)	DPM1, LOC130066166 (E16K)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 2002305	NM_003859.3(DPM1):c.397A>C (p.Arg133=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 2001096	NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)	DPM1, LOC130066166 (E5Q)	Single nucleotide variant (missense variant +1 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 1982498	NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)	DPM1, LOC130066166 (R23G)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1980025	NM_003859.3(DPM1):c.382A>G (p.Ile128Val)	DPM1 (I128V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 1972242	NM_003859.3(DPM1):c.6C>T (p.Ala2=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1965227	NM_003859.3(DPM1):c.18C>A (p.Val6=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1898546	NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)	DPM1 (I116del)	Microsatellite (inframe_deletion +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1716536	NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)	DPM1, LOC130066166 (P32S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1669963	NM_003859.3(DPM1):c.161+18C>T	DPM1, LOC130066166	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	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 1643662	NM_003859.3(DPM1):c.219T>C (p.Asp73=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1635960	NM_003859.3(DPM1):c.373-11T>C	DPM1	Single nucleotide variant (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 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 1573546	NM_003859.3(DPM1):c.262-9T>C	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1571133	NM_003859.3(DPM1):c.57G>T (p.Val19=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	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 1557826	NM_003859.3(DPM1):c.161+16_161+21del	DPM1, LOC130066166	Deletion (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1512952	NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)	DPM1 (T71I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1508027	NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)	DPM1 (Y113N)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 1499141	NM_003859.3(DPM1):c.296-9C>G	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
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 1493623	NM_003859.3(DPM1):c.49C>G (p.Leu17Val)	DPM1, LOC130066166 (L17V)	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 1482474	NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)	DPM1 (A119T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1478584	NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)	DPM1, LOC130066166 (L4W)	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 1463727	NM_003859.3(DPM1):c.261+8A>G	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1455808	NM_003859.3(DPM1):c.52del (p.Glu18fs)	DPM1, LOC130066166 (E18fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation type 1E	GPathogenic
Select item 1454916	NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)	DPM1	Deletion (nonsense +1 more)	Congenital disorder of glycosylation type 1E	GPathogenic
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 1433017	NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)	DPM1, LOC130066166 (S21R)	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 1422879	NM_003859.3(DPM1):c.127A>G (p.Ile43Val)	DPM1, LOC130066166 (I43V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1401649	NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)	DPM1, LOC130066166 (R37C)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance

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