"GeneDx"[submitter] AND "DPM1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 1203545	NM_003859.3(DPM1):c.679-8del	ADNP-AS1, DPM1	Deletion (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 1233770	NM_003859.3(DPM1):c.678+325C>T	DPM1, ADNP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1240483	NM_003859.3(DPM1):c.564-105T>C	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1206732	NM_003859.3(DPM1):c.494+217G>A	ADNP-AS1, DPM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 100636	NM_003859.3(DPM1):c.455G>T (p.Gly152Val)	ADNP-AS1, DPM1 (G152V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GPathogenic/Likely pathogenic
Select item 1234584	NM_003859.3(DPM1):c.399-148C>T	ADNP-AS1, DPM1	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 1204116	NM_003859.3(DPM1):c.398+309T>A	DPM1	Single nucleotide variant (intron variant)	not provided	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 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 385024	NM_003859.3(DPM1):c.296-12T>C	DPM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 387228	NM_003859.3(DPM1):c.286T>C (p.Leu96=)	DPM1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GConflicting classifications of pathogenicity
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 679335	NM_003859.3(DPM1):c.262-156del	DPM1	Deletion (intron variant)	not provided	GBenign
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 514950	NM_003859.3(DPM1):c.162-17A>G	DPM1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1189396	NM_003859.3(DPM1):c.161+65C>G	DPM1, LOC130066166	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247855	NM_003859.3(DPM1):c.161+21C>G	DPM1, LOC130066166	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681551	NM_003859.3(DPM1):c.161+17C>T	DPM1, LOC130066166	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 338755	NM_003859.3(DPM1):c.161+10C>T	DPM1, LOC130066166	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type 1E +1 more	GConflicting classifications of pathogenicity
Select item 338756	NM_003859.3(DPM1):c.84G>C (p.Ser28=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 338758	NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)	LOC130066166, DPM1 (R14W)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GConflicting classifications of pathogenicity
Select item 259186	NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)	DPM1, LOC130066166 (R8C)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GConflicting classifications of pathogenicity
Select item 512776	NM_003859.3(DPM1):c.9C>G (p.Ser3=)	DPM1, LOC130066166	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 663599	NM_003859.3(DPM1):c.1A>C (p.Met1Leu)	DPM1, LOC130066166 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 668343	NM_003859.2(DPM1):c.-33A>C	DPM1, LOC130066166	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 517673	NM_003859.2(DPM1):c.-39delT	DPM1, LOC130066166	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 387558	NM_003859.1(DPM1):c.-42A>G	LOC130066166, DPM1	Single nucleotide variant	not specified	GLikely benign
Select item 679333	NM_003859.1(DPM1):c.-274T>G	DPM1	Single nucleotide variant	not provided	GBenign
Select item 3359784	NM_003859.3(DPM1):c.55G>A (p.Val19Met)	DPM1 (V19M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 47