ClinVar for Gene (Select 399959) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2516517	NM_001001786.3(BLID):c.301T>C (p.Cys101Arg)	BLID, MIR100HG (C101R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463909	NM_001001786.3(BLID):c.251A>C (p.His84Pro)	BLID, MIR100HG (H84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390130	NM_001001786.3(BLID):c.230T>G (p.Met77Arg)	MIR100HG, BLID (M77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387421	NM_001001786.3(BLID):c.92G>A (p.Arg31Gln)	BLID, MIR100HG (R31Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374758	NM_001001786.3(BLID):c.146C>T (p.Ala49Val)	MIR100HG, BLID (A49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371435	NM_001001786.3(BLID):c.131G>A (p.Arg44His)	BLID, MIR100HG (R44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363265	NM_001001786.3(BLID):c.37C>T (p.His13Tyr)	BLID, MIR100HG (H13Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317112	NM_001001786.3(BLID):c.36A>G (p.Ile12Met)	BLID, MIR100HG (I12M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679730	Single allele	BSX, CLMP +52 more	Duplication	not provided	GUncertain significance
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	ACAD8, ACRV1 +444 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	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 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	ACAD8, ACRV1 +551 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	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 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	LOC130007011, LOC130007012 +440 more	Copy number loss	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 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	PUS3, ROBO3 +166 more	Copy number loss	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	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 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 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 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	LOC129390377, LOC129390378 +488 more	Copy number loss	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 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	ACAD8, ACRV1 +549 more	Copy number loss	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: 31