ClinVar for Gene (Select 51181) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080692	NM_016286.4(DCXR):c.89C>T (p.Thr30Met)	DCXR, LOC130061998 (T28M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080691	NM_016286.4(DCXR):c.688A>T (p.Thr230Ser)	DCXR (T228S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080690	NM_016286.4(DCXR):c.584A>G (p.His195Arg)	DCXR (H195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080689	NM_016286.4(DCXR):c.463G>T (p.Ala155Ser)	DCXR (A153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080687	NM_016286.4(DCXR):c.260C>T (p.Ala87Val)	DCXR (A87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080686	NM_016286.4(DCXR):c.17C>T (p.Ala6Val)	DCXR, LOC130061998 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057165	NM_016286.4(DCXR):c.150+6T>C	DCXR, LOC130061998	Single nucleotide variant (intron variant)	DCXR-related condition	GBenign
Select item 3055361	NM_016286.4(DCXR):c.345G>A (p.Ser115=)	DCXR	Single nucleotide variant (synonymous variant)	DCXR-related condition	GBenign
Select item 3040332	NM_016286.4(DCXR):c.634G>A (p.Val212Ile)	DCXR (V210I +1 more)	Single nucleotide variant (missense variant)	DCXR-related condition	GLikely benign
Select item 3039358	NM_016286.4(DCXR):c.21C>T (p.Gly7=)	DCXR, LOC130061998	Single nucleotide variant (synonymous variant)	DCXR-related condition	GBenign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2597878	NM_016286.4(DCXR):c.358A>G (p.Arg120Gly)	DCXR (R118G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590974	NM_016286.4(DCXR):c.321C>A (p.Asn107Lys)	DCXR (N105K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589424	NM_016286.4(DCXR):c.360G>C (p.Arg120Ser)	DCXR (R120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510902	NM_016286.4(DCXR):c.145C>T (p.Arg49Cys)	DCXR, LOC130061998 (R47C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2393048	NM_016286.4(DCXR):c.114C>G (p.Ser38Arg)	DCXR, LOC130061998 (S38R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358906	NM_016286.4(DCXR):c.118A>G (p.Thr40Ala)	DCXR, LOC130061998 (T38A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356889	NM_016286.4(DCXR):c.118A>C (p.Thr40Pro)	DCXR, LOC130061998 (T38P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343078	NM_016286.4(DCXR):c.10T>C (p.Phe4Leu)	DCXR, LOC130061998 (F4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315052	NM_016286.4(DCXR):c.706C>G (p.Pro236Ala)	DCXR (P236A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299970	NM_016286.4(DCXR):c.315G>C (p.Glu105Asp)	DCXR (E105D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272658	NM_016286.4(DCXR):c.724T>G (p.Trp242Gly)	DCXR (W242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247054	NM_016286.4(DCXR):c.478A>G (p.Thr160Ala)	DCXR (T160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225730	NM_016286.4(DCXR):c.26G>T (p.Arg9Leu)	DCXR, LOC130061998 (R9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 711695	NM_016286.4(DCXR):c.53-8C>T	DCXR, LOC130061998	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 101055	NM_016286.4(DCXR):c.52+1G>A	DCXR, LOC130061998	Single nucleotide variant (splice donor variant)	Essential pentosuria	GAffects
Select item 101054	NM_016286.4(DCXR):c.583del (p.His195fs)	DCXR (H193fs +1 more)	Deletion (frameshift variant)	Essential pentosuria	GAffects
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52