"Ambry Genetics"[submitter] AND "DCPS"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271118	NM_014026.6(DCPS):c.7G>A (p.Asp3Asn)	DCPS, LOC130007028 +1 more (D3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513013	NM_014026.6(DCPS):c.17C>T (p.Pro6Leu)	DCPS, LOC130007028 +1 more (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241517	NM_014026.6(DCPS):c.25G>C (p.Gly9Arg)	DCPS, LOC130007028 +1 more (G9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080584	NM_014026.6(DCPS):c.37C>A (p.Arg13Ser)	DCPS, LOC130007028 +1 more (R13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335683	NM_014026.6(DCPS):c.41A>G (p.Glu14Gly)	DCPS, LOC130007028 +1 more (E14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271113	NM_014026.6(DCPS):c.47A>C (p.Asp16Ala)	DCPS, LOC130007028 +1 more (D16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271116	NM_014026.6(DCPS):c.70A>C (p.Ser24Arg)	DCPS, TIRAP-AS1 (S24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560071	NM_014026.6(DCPS):c.71G>A (p.Ser24Asn)	DCPS, TIRAP-AS1 (S24N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500319	NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)	DCPS, TIRAP-AS1 (E29D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2229637	NM_014026.6(DCPS):c.136G>A (p.Gly46Ser)	DCPS, TIRAP-AS1 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480214	NM_014026.6(DCPS):c.161G>T (p.Arg54Met)	DCPS, TIRAP-AS1 (R54M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598554	NM_014026.6(DCPS):c.227A>T (p.Asp76Val)	DCPS (D76V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271115	NM_014026.6(DCPS):c.253G>A (p.Glu85Lys)	DCPS (E85K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280911	NM_014026.6(DCPS):c.283G>C (p.Ala95Pro)	DCPS (A102P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080585	NM_014026.6(DCPS):c.415C>T (p.His139Tyr)	DCPS (H146Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 424491	NM_014026.6(DCPS):c.433C>T (p.Arg145Cys)	DCPS (R145C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3080586	NM_014026.6(DCPS):c.445C>T (p.Arg149Cys)	DCPS (R149C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271117	NM_014026.6(DCPS):c.455G>A (p.Arg152Gln)	DCPS (R152Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466686	NM_014026.6(DCPS):c.461C>T (p.Thr154Met)	DCPS (T154M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301113	NM_014026.6(DCPS):c.535A>C (p.Ile179Leu)	DCPS (I186L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339155	NM_014026.6(DCPS):c.541G>C (p.Asp181His)	DCPS (D188H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031231	NM_014026.6(DCPS):c.550G>A (p.Ala184Thr)	DCPS (A184T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2339036	NM_014026.6(DCPS):c.557C>T (p.Ala186Val)	DCPS (A186V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213801	NM_014026.6(DCPS):c.578A>G (p.Asn193Ser)	DCPS (N193S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479543	NM_014026.6(DCPS):c.611C>G (p.Pro204Arg)	DCPS (P204R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376909	NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)	DCPS, GSEC (G226D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2534038	NM_014026.6(DCPS):c.691C>T (p.Arg231Cys)	DCPS, GSEC (R238C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033250	NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)	DCPS, GSEC (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3080587	NM_014026.6(DCPS):c.715C>T (p.Pro239Ser)	DCPS, GSEC (P246S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080588	NM_014026.6(DCPS):c.752C>T (p.Ala251Val)	DCPS, GSEC (A258V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080589	NM_014026.6(DCPS):c.800T>G (p.Leu267Arg)	DCPS, GSEC (L267R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271119	NM_014026.6(DCPS):c.844G>A (p.Ala282Thr)	DCPS, GSEC (A282T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080590	NM_014026.6(DCPS):c.856G>A (p.Glu286Lys)	DCPS, GSEC (E293K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271112	NM_014026.6(DCPS):c.884C>T (p.Ala295Val)	DCPS, GSEC (A295V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271114	NM_014026.6(DCPS):c.944G>T (p.Arg315Leu)	DCPS, GSEC (R315L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 35