DPM1[gene] and "single gene"[properties] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1204116	NM_003859.3(DPM1):c.398+309T>A	DPM1	Single nucleotide variant (intron variant)	not provided	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 507514	NM_003859.3(DPM1):c.398+13T>C	DPM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 650177	NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)	DPM1 (P129S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 572012	NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)	DPM1 (P129T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 464503	NM_003859.3(DPM1):c.384T>C (p.Ile128=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
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 100635	NM_003859.3(DPM1):c.373-5T>A	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GPathogenic
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 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 1098270	NM_003859.3(DPM1):c.371A>G (p.His124Arg)	DPM1 (H124R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely pathogenic
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 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 705763	NM_003859.3(DPM1):c.357T>C (p.Ala119=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
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 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 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 570864	NM_003859.3(DPM1):c.331_343del (p.Gly111fs)	DPM1 (G111fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GPathogenic
Select item 533135	NM_003859.3(DPM1):c.339C>T (p.Tyr113=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
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 1042957	NM_003859.3(DPM1):c.326C>T (p.Ala109Val)	DPM1 (A109V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	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 389116	NM_003859.3(DPM1):c.303A>G (p.Ala101=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1358420	NM_003859.3(DPM1):c.296-5T>C	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 1063369	NM_003859.3(DPM1):c.296-9C>A	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 1106808	NM_003859.3(DPM1):c.296-10T>C	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 385024	NM_003859.3(DPM1):c.296-12T>C	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E +1 more	GBenign/Likely 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 1195296	NM_003859.3(DPM1):c.296-49T>C	DPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293069	NM_003859.3(DPM1):c.296-249T>A	DPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517961	NM_003859.3(DPM1):c.295+15C>T	DPM1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 794835	NM_003859.3(DPM1):c.295+8G>C	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 338754	NM_003859.3(DPM1):c.295+8G>A	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
Select item 895469	NM_003859.3(DPM1):c.295+7C>T	DPM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E	GConflicting classifications of pathogenicity
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 387228	NM_003859.3(DPM1):c.286T>C (p.Leu96=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 464502	NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)	DPM1 (R92Q)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1343000	NM_003859.3(DPM1):c.274C>T (p.Arg92Ter)	DPM1 (R92*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 6296	NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)	DPM1 (R92G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 464501	NM_003859.3(DPM1):c.273A>G (p.Pro91=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
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 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 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 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 679335	NM_003859.3(DPM1):c.262-156del	DPM1	Deletion (intron variant)	not provided	GBenign
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 464500	NM_003859.3(DPM1):c.261T>A (p.Ile87=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 1046183	NM_003859.3(DPM1):c.259A>G (p.Ile87Val)	DPM1 (I87V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 533133	NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)	DPM1 (D85G)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 464499	NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)	DPM1 (E79Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1139309	NM_003859.3(DPM1):c.232T>C (p.Leu78=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E	GLikely benign
Select item 2683547	NM_003859.3(DPM1):c.229C>G (p.Gln77Glu)	DPM1 (Q77E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 838500	NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)	DPM1 (P68A)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 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 946534	NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)	DPM1 (I60F)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
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 639400	NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)	DPM1 (Y58C)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 574155	NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)	DPM1 (Y58F)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 681404	NM_003859.3(DPM1):c.171C>T (p.Asn57=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 642386	NM_003859.3(DPM1):c.168C>G (p.Ile56Met)	DPM1 (I56M)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 940708	NM_003859.3(DPM1):c.162-3del	DPM1	Deletion (intron variant)	Congenital disorder of glycosylation type 1E	GUncertain significance
Select item 514950	NM_003859.3(DPM1):c.162-17A>G	DPM1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 679333	NM_003859.1(DPM1):c.-274T>G	DPM1	Single nucleotide variant	not provided	GBenign
Select item 2424781	NC_000020.10:g.(?_49557382)_(49558683_?)dup	DPM1	Duplication	Congenital disorder of glycosylation type 1E	GUncertain significance

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Items: 69