ClinVar for Gene (Select 79102) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155395	NM_032015.5(RNF26):c.907C>T (p.Arg303Trp)	RNF26 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155394	NM_032015.5(RNF26):c.697T>A (p.Leu233Met)	RNF26 (L233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155393	NM_032015.5(RNF26):c.577A>G (p.Ser193Gly)	RNF26 (S193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155392	NM_032015.5(RNF26):c.232G>C (p.Gly78Arg)	RNF26 (G78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155391	NM_032015.5(RNF26):c.1045C>A (p.Pro349Thr)	RNF26 (P349T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2606630	NM_032015.5(RNF26):c.764C>G (p.Thr255Ser)	RNF26 (T255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517405	NM_032015.5(RNF26):c.392G>A (p.Arg131His)	RNF26 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516968	NM_032015.5(RNF26):c.791G>A (p.Arg264Gln)	RNF26 (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512485	NM_032015.5(RNF26):c.790C>T (p.Arg264Trp)	RNF26 (R264W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482645	NM_032015.5(RNF26):c.1082C>T (p.Pro361Leu)	RNF26 (P361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457496	NM_032015.5(RNF26):c.472G>A (p.Gly158Ser)	RNF26 (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456108	NM_032015.5(RNF26):c.835C>T (p.Arg279Cys)	RNF26 (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	ARHGEF12, C1QTNF5 +14 more	Duplication	not provided	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 2410563	NM_032015.5(RNF26):c.375T>G (p.Ser125Arg)	RNF26 (S125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410213	NM_032015.5(RNF26):c.574T>G (p.Ser192Ala)	RNF26 (S192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404834	NM_032015.5(RNF26):c.719T>C (p.Val240Ala)	RNF26 (V240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389623	NM_032015.5(RNF26):c.956C>T (p.Ser319Leu)	RNF26 (S319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354592	NM_032015.5(RNF26):c.968G>A (p.Arg323Gln)	RNF26 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322661	NM_032015.5(RNF26):c.778C>G (p.Gln260Glu)	RNF26 (Q260E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320602	NM_032015.5(RNF26):c.1187G>A (p.Arg396Gln)	RNF26 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319626	NM_032015.5(RNF26):c.887A>G (p.Gln296Arg)	RNF26 (Q296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307252	NM_032015.5(RNF26):c.155C>T (p.Thr52Ile)	RNF26 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301466	NM_032015.5(RNF26):c.1265G>A (p.Arg422His)	RNF26 (R422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255301	NM_032015.5(RNF26):c.97C>G (p.Leu33Val)	RNF26 (L33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235192	NM_032015.5(RNF26):c.434C>T (p.Ala145Val)	RNF26 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215178	NM_032015.5(RNF26):c.523G>A (p.Gly175Arg)	RNF26 (G175R)	Single nucleotide variant (missense variant)	not specified	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	ARHGEF12, ATP5MG +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 1015400	NC_000011.9:g.(?_119077108)_(120133495_?)dup	RNF26, USP2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	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 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
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 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +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 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: 57