ClinVar for Gene (Select 114908) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2543906	NM_052932.3(TMEM123):c.488A>T (p.Lys163Ile)	TMEM123 (K163I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2381191	NM_052932.3(TMEM123):c.326C>G (p.Ser109Cys)	TMEM123 (S109C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366441	NM_052932.3(TMEM123):c.278C>T (p.Ala93Val)	TMEM123 (A93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347217	NM_052932.3(TMEM123):c.11G>T (p.Gly4Val)	LOC130006652, TMEM123 (G4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235900	NM_052932.3(TMEM123):c.164T>C (p.Leu55Pro)	TMEM123 (L55P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228539	NM_052932.3(TMEM123):c.119A>G (p.Asn40Ser)	TMEM123 (N40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527667	GRCh37/hg19 11q22.2(chr11:102308740-102676879)	LOC100128088, MMP1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +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 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 395248	GRCh37/hg19 11q22.2(chr11:102249285-102323664)x3	BIRC2, TMEM123	Copy number gain	See cases	GLikely benign
Select item 394360	GRCh37/hg19 11q22.2(chr11:102323664-102401448)x3	MMP7, TMEM123	Copy number gain	See cases	GUncertain significance
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	ANGPTL5, ARHGAP42 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +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	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 32