ClinVar for Gene (Select 83935) - ClinVar

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

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326784	NM_152432.4(ARHGAP42):c.*3634A>C	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3326783	NM_152432.4(ARHGAP42):c.*3526G>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3178785	NM_152432.4(ARHGAP42):c.*3826G>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3178784	NM_152432.4(ARHGAP42):c.*3793C>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3178783	NM_152432.4(ARHGAP42):c.*3632A>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3063222	GRCh37/hg19 11q22.1(chr11:100770764-101584390)x3	ARHGAP42, PGR +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2588657	NM_152432.4(ARHGAP42):c.*3714T>G	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2482969	NM_152432.4(ARHGAP42):c.*3551G>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2460080	NM_152432.4(ARHGAP42):c.*3870C>A	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2333132	NM_152432.4(ARHGAP42):c.*3622C>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2286848	NM_152432.4(ARHGAP42):c.*3518A>G	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2264203	NM_152432.4(ARHGAP42):c.*3554C>T	ARHGAP42, TMEM133	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808333	GRCh37/hg19 11q22.1(chr11:100711072-100895455)x1	ARHGAP42, TMEM133	Copy number loss	not provided	GUncertain significance
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340870	GRCh37/hg19 11q22.1(chr11:100183922-101781251)x3	ANGPTL5, ARHGAP42 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563854	GRCh37/hg19 11q22.1(chr11:100507403-101123672)x3	PGR, TMEM133 +1 more	Copy number gain	not provided	GLikely benign
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 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: 33