ClinVar for Gene (Select 283150) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2574648	NM_181721.3(FOXR1):c.838A>T (p.Met280Leu)	FOXR1	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2543469	NM_181721.3(FOXR1):c.312A>C (p.Glu104Asp)	FOXR1 (E104D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540049	NM_181721.3(FOXR1):c.714G>A (p.Met238Ile)	FOXR1 (M238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462589	NM_181721.3(FOXR1):c.218G>A (p.Arg73His)	FOXR1 (R73H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2401624	NM_181721.3(FOXR1):c.482G>A (p.Arg161Gln)	FOXR1 (R161Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369174	NM_181721.3(FOXR1):c.635C>T (p.Thr212Met)	FOXR1 (T212M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339410	NM_181721.3(FOXR1):c.718G>A (p.Gly240Ser)	FOXR1 (G240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338377	NM_181721.3(FOXR1):c.461C>G (p.Pro154Arg)	FOXR1 (P154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267761	NM_181721.3(FOXR1):c.157C>G (p.Leu53Val)	FOXR1 (L53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220611	NM_181721.3(FOXR1):c.734G>A (p.Arg245Gln)	FOXR1 (R245Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	ATP5MG, SCN4B +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340179	GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3	ABCG4, C2CD2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Immunodeficiency 18 +4 more	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	H2AX, DDX6 +31 more	Deletion	Inflammatory bowel disease 28 +3 more	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	VPS11, ABCG4 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 768490	NM_181721.3(FOXR1):c.183T>C (p.Ile61=)	FOXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	SLC37A4, TMEM25 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	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 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +499 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	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 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44