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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068672	NM_014026.6(DCPS):c.219GGATGG[3] (p.Gly77_Glu78insAspGly)	DCPS	Microsatellite (inframe_insertion)	Al-Raqad syndrome	GBenign
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 2642531	NM_014026.6(DCPS):c.240C>T (p.Ala80=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638276	NM_014026.6(DCPS):c.260C>T (p.Thr87Met)	DCPS (T87M +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GPathogenic
Select item 726067	NM_014026.6(DCPS):c.273G>A (p.Val91=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1255461	NM_014026.6(DCPS):c.315G>A (p.Gln105=)	DCPS	Single nucleotide variant (synonymous variant)	Al-Raqad syndrome	GBenign
Select item 1031229	NM_014026.6(DCPS):c.329A>G (p.Asn110Ser)	DCPS (N117S +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	GUncertain significance
Select item 2642532	NM_014026.6(DCPS):c.377-1024C>T	DCPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1031230	NM_014026.6(DCPS):c.386C>T (p.Thr129Met)	DCPS (T129M +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	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 1331450	NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)	DCPS (R152* +1 more)	Single nucleotide variant (nonsense)	Al-Raqad syndrome	GLikely pathogenic
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 734060	NM_014026.6(DCPS):c.501G>A (p.Glu167=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642533	NM_014026.6(DCPS):c.510C>T (p.Ser170=)	DCPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743364	NM_014026.6(DCPS):c.530A>G (p.Tyr177Cys)	DCPS (Y177C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1033249	NM_014026.6(DCPS):c.541G>A (p.Asp181Asn)	DCPS (D188N +1 more)	Single nucleotide variant (missense variant)	Al-Raqad syndrome	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 712729	NM_014026.6(DCPS):c.558G>A (p.Ala186=)	DCPS	Single nucleotide variant (synonymous variant)	DCPS-related disorder +1 more	GBenign/Likely benign
Select item 430387	NM_014026.6(DCPS):c.562C>T (p.Arg188Trp)	DCPS (R188W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 732222	NM_014026.6(DCPS):c.574G>C (p.Glu192Gln)	DCPS (E199Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 372234	NM_014026.6(DCPS):c.636+1G>A	DCPS	Single nucleotide variant (splice donor variant)	Al-Raqad syndrome	GPathogenic
Select item 3053739	NM_014026.6(DCPS):c.636+5A>C	DCPS	Single nucleotide variant (intron variant)	DCPS-related disorder	GLikely benign

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Items: 30