DCXR[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 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 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	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 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 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 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 3040332	NM_016286.4(DCXR):c.634G>A (p.Val212Ile)	DCXR (V210I +1 more)	Single nucleotide variant (missense variant)	DCXR-related disorder	GLikely benign
Select item 3271175	NM_016286.4(DCXR):c.587A>C (p.Lys196Thr)	DCXR (K196T +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 101054	NM_016286.4(DCXR):c.583del (p.His195fs)	DCXR (H193fs +1 more)	Deletion (frameshift variant)	DCXR-related disorder +1 more	GPathogenic; Affects
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 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 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 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 3055361	NM_016286.4(DCXR):c.345G>A (p.Ser115=)	DCXR	Single nucleotide variant (synonymous variant)	DCXR-related disorder	GBenign
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 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 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 3057165	NM_016286.4(DCXR):c.150+6T>C	DCXR, LOC130061998	Single nucleotide variant (intron variant)	DCXR-related disorder	GBenign
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 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 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 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 711695	NM_016286.4(DCXR):c.53-8C>T	DCXR, LOC130061998	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 101055	NM_016286.4(DCXR):c.52+1G>A	DCXR, LOC130061998	Single nucleotide variant (splice donor variant)	Essential pentosuria	GAffects
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 3039358	NM_016286.4(DCXR):c.21C>T (p.Gly7=)	DCXR, LOC130061998	Single nucleotide variant (synonymous variant)	DCXR-related disorder	GBenign
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 2343078	NM_016286.4(DCXR):c.10T>C (p.Phe4Leu)	DCXR, LOC130061998 (F4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
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 2445210	Single allele	FOXK2, GCGR +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	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +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 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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54