ClinVar for Gene (Select 399959) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260985	NM_001001786.3(BLID):c.290T>G (p.Val97Gly)	BLID, MIR100HG (V97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260984	NM_001001786.3(BLID):c.113A>G (p.Tyr38Cys)	BLID, MIR100HG (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260983	NM_001001786.3(BLID):c.272A>T (p.Tyr91Phe)	BLID, MIR100HG (Y91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134120	NM_001001786.3(BLID):c.191T>A (p.Val64Glu)	BLID, MIR100HG (V64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516517	NM_001001786.3(BLID):c.301T>C (p.Cys101Arg)	BLID, MIR100HG (C101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463909	NM_001001786.3(BLID):c.251A>C (p.His84Pro)	BLID, MIR100HG (H84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390130	NM_001001786.3(BLID):c.230T>G (p.Met77Arg)	BLID, MIR100HG (M77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387421	NM_001001786.3(BLID):c.92G>A (p.Arg31Gln)	BLID, MIR100HG (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374758	NM_001001786.3(BLID):c.146C>T (p.Ala49Val)	BLID, MIR100HG (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371435	NM_001001786.3(BLID):c.131G>A (p.Arg44His)	BLID, MIR100HG (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363265	NM_001001786.3(BLID):c.37C>T (p.His13Tyr)	BLID, MIR100HG (H13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317112	NM_001001786.3(BLID):c.36A>G (p.Ile12Met)	BLID, MIR100HG (I12M)	Single nucleotide variant (missense variant)	not specified	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	ABCG4, ACAD8 +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	LOC126861375, LOC126861376 +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	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +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	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +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	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +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	LOC126861364, LOC126861365 +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	ACAD8, ACRV1 +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	LOC121832824, LOC124625855 +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

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: 35