ClinVar for Gene (Select 100128260) - ClinVar

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

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1808617	GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0	BPY2, BPY2B +47 more	Copy number loss	not provided	GPathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	NLGN4Y, PCDH11Y +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1342389	NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	BRCC3, CLIC2 +64 more	Deletion	not provided	GPathogenic
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	GPathogenic
Select item 488031	Single allele	LOC106128902, LOC106144556 +160 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 441906	GRCh37/hg19 Yq12(chrY:59033287-59363566)x0	WASIR1	Copy number loss	See cases	GBenign
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395689	GRCh37/hg19 Yp11.32-q12(chrY:20297-59356174)	TTTY22, TTTY23 +82 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 395451	GRCh37/hg19 Xq28(chrX:154933719-155246585)x0	WASIR1	Copy number loss	See cases	GBenign
Select item 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	IRAK1, IRS4 +388 more	Copy number loss	See cases	GPathogenic
Select item 395040	GRCh37/hg19 Yq12(chrY:59036725-59349591)x0	WASIR1	Copy number loss	See cases	GBenign
Select item 394909	GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0	HSFY1, HSFY2 +44 more	Copy number loss	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394686	GRCh37/hg19 Xq28(chrX:155236606-155246585)x3	WASIR1	Copy number gain	See cases	GBenign
Select item 394364	GRCh37/hg19 Yq12(chrY:59028692-59349591)x0	WASIR1	Copy number loss	See cases	GBenign
Select item 394276	GRCh37/hg19 Yq12(chrY:58983344-59358798)x0	WASIR1	Copy number loss	See cases	GBenign
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	MAGEB17, MAGEB18 +822 more	Copy number loss	See cases	GPathogenic
Select item 393962	GRCh37/hg19 Yq11.223-12(chrY:24108372-59358798)x0	BPY2, BPY2B +22 more	Copy number loss	See cases	GPathogenic
Select item 253653	GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2	AMELY, FAM197Y10 +82 more	Copy number gain	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253625	GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1	TTTY9B, USP9Y +82 more	Copy number loss	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253609	GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2	FAM197Y1P, FAM197Y9 +82 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253557	GRCh37/hg19 Yq11.221-12(chrY:16188682-59349649)x0	RPS4Y2, TTTY10 +40 more	Copy number loss	See cases	GPathogenic
Select item 253518	GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2	TSPY2, TSPY3 +82 more	Copy number gain	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253481	GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253428	GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2	TBL1Y, TGIF2LY +82 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic
Select item 161054	GRCh38/hg38 Xq28(chrX:156001591-156022206)x0	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 161053	GRCh38/hg38 Xq28(chrX:156001591-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 154510	GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	ABCD1, ACTRT1 +909 more	Copy number loss	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151851	GRCh38/hg38 Xq28(chrX:155889104-156020513)x3	IL9R, VAMP7 +1 more	Copy number gain	See cases	GBenign
Select item 148083	GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	LOC126863326, LOC126863327 +720 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	LOC130068886, LOC130068887 +1230 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	DNAAF6, DNASE1L1 +1244 more	Copy number loss	See cases	GPathogenic
Select item 147995	GRCh38/hg38 Yq11.23-12(chrY:26389936-57208726)x0	IL9R, LOC107522039 +4 more	Copy number loss	See cases	GBenign
Select item 147927	GRCh38/hg38 Xq28(chrX:155434676-156022206)x3	F8A3, H2AB3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 147764	GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1	ABCD1, AFF2 +390 more	Copy number loss	See cases	GPathogenic
Select item 147712	GRCh38/hg38 Xq28(chrX:155699559-156022206)x1	IL9R, LOC107522039 +4 more	Copy number loss	See cases	GPathogenic
Select item 147353	GRCh38/hg38 Yq12(chrY:56992525-57208726)x0	IL9R, VAMP7 +1 more	Copy number loss	See cases	GBenign
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146622	GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0	BPY2, BPY2B +65 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145999	GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0	FAM224A, FAM224B +74 more	Copy number loss	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145981	GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	GABRQ, GDI1 +1150 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 145940	GRCh38/hg38 Xq28(chrX:155348480-156016920)x3	F8A2, F8A3 +16 more	Copy number gain	See cases	GLikely benign
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	LOC130068848, LOC130068849 +1254 more	Copy number loss	See cases	GPathogenic
Select item 145613	GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	LOC130068866, LOC130068867 +883 more	Copy number loss	See cases	GPathogenic
Select item 145252	GRCh38/hg38 Yq12(chrY:56890578-57212647)x3	IL9R, LOC107522039 +4 more	Copy number gain	See cases	GBenign
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 145129	GRCh38/hg38 Xq28(chrX:156006941-156026127)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 145128	GRCh38/hg38 Xq28(chrX:156006941-156026127)x3	IL9R, WASIR1	Copy number gain	See cases	GBenign/Likely benign
Select item 145124	GRCh38/hg38 Xq28(chrX:156006941-156020513)x4	IL9R, WASIR1	Copy number gain	See cases	GBenign
Select item 144262	GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	ABCD1, ACSL4 +1169 more	Copy number gain	See cases	GPathogenic
Select item 144188	GRCh38/hg38 Xq28(chrX:155951870-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144127	GRCh38/hg38 Xq28(chrX:155998122-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 144120	GRCh38/hg38 Xq28(chrX:156001591-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 60449	GRCh38/hg38 Xq28(chrX:155717169-156022206)x3	IL9R, LOC107522039 +4 more	Copy number gain	See cases	GUncertain significance
Select item 59665	GRCh38/hg38 Yq12(chrY:56903689-57208726)x0	IL9R, LOC107522039 +4 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 59659	GRCh38/hg38 Xq28(chrX:155980375-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 57990	GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1	LOC105373367, LOC105373378 +430 more	Copy number loss	See cases	GPathogenic
Select item 57513	GRCh38/hg38 Xq28(chrX:155998122-156022206)x0	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 57454	GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	ABCD1, ACTRT1 +869 more	Copy number loss	See cases	GPathogenic
Select item 57273	GRCh38/hg38 Xq28(chrX:150036146-156022206)x3	ABCD1, ARHGAP4 +288 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57059	GRCh38/hg38 Xq28(chrX:149989929-156022206)x3	ABCD1, ARHGAP4 +289 more	Copy number gain	See cases	GPathogenic
Select item 32810	GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0	BPY2, BPY2B +51 more	Copy number loss	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

Links from Gene

Items: 94