WBP1L[gene] - ClinVar

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

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 149001	GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1	ARL3, AS3MT +20 more	Copy number loss	See cases	GUncertain significance
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 2250073	NM_001083913.2(WBP1L):c.82C>T (p.Pro28Ser)	WBP1L (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332609	NM_001083913.2(WBP1L):c.214A>G (p.Ile72Val)	WBP1L (I72V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332610	NM_001083913.2(WBP1L):c.238T>C (p.Cys80Arg)	WBP1L (C59R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332611	NM_001083913.2(WBP1L):c.268C>T (p.Arg90Cys)	WBP1L (R69C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624103	NM_001083913.2(WBP1L):c.287G>A (p.Arg96Gln)	WBP1L (R75Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352825	NM_001083913.2(WBP1L):c.317G>A (p.Arg106Gln)	WBP1L (R106Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353289	NM_001083913.2(WBP1L):c.338C>T (p.Ala113Val)	WBP1L (A92V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508767	NM_001083913.2(WBP1L):c.494C>G (p.Pro165Arg)	WBP1L (P144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286352	NM_001083913.2(WBP1L):c.509C>T (p.Pro170Leu)	WBP1L (P170L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332612	NM_001083913.2(WBP1L):c.529G>T (p.Ala177Ser)	WBP1L (A177S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189695	NM_001083913.2(WBP1L):c.548C>T (p.Ser183Phe)	WBP1L (S162F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475219	NM_001083913.2(WBP1L):c.574C>T (p.Pro192Ser)	WBP1L (P171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464777	NM_001083913.2(WBP1L):c.656G>A (p.Gly219Asp)	WBP1L (G198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189696	NM_001083913.2(WBP1L):c.763G>A (p.Asp255Asn)	WBP1L (D255N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332606	NM_001083913.2(WBP1L):c.779C>T (p.Thr260Met)	WBP1L (T239M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305079	NM_001083913.2(WBP1L):c.838C>T (p.Arg280Trp)	WBP1L (R280W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189697	NM_001083913.2(WBP1L):c.866A>G (p.Glu289Gly)	WBP1L (E289G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205292	NM_001083913.2(WBP1L):c.931C>T (p.Arg311Trp)	WBP1L (R290W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289104	NM_001083913.2(WBP1L):c.947A>C (p.Glu316Ala)	WBP1L (E316A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371298	NM_001083913.2(WBP1L):c.962G>A (p.Cys321Tyr)	WBP1L (C300Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332608	NM_001083913.2(WBP1L):c.968C>T (p.Ser323Phe)	WBP1L (S302F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324442	NM_001083913.2(WBP1L):c.1001C>T (p.Pro334Leu)	WBP1L (P313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332607	NM_001083913.2(WBP1L):c.1016C>T (p.Pro339Leu)	WBP1L (P318L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1499287	NC_000010.10:g.(?_104262628)_(104595248_?)dup	ARL3, CYP17A1 +4 more	Duplication	Gorlin syndrome +1 more	GUncertain significance
Select item 1460216	NC_000010.10:g.(?_104262628)_(104595248_?)del	CYP17A1, SUFU +4 more	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 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: 47