AADAC[gene] - ClinVar

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

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 153052	GRCh38/hg38 3q25.1(chr3:151396286-151842231)x1	AADAC, AADACL2 +8 more	Copy number loss	See cases	GUncertain significance
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	AADAC, AADACL2 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 156883	NR_110202.1(AADACL2-AS1):n.320-53588_320-22137del	AADAC, AADACL2-AS1	Deletion	Gestational diabetes mellitus uncontrolled +1 more	Gnot provided
Select item 156882	GRCh37/hg19 3q25.1(chr3:151514590-151574286)x1	AADAC, AADACL2-AS1	Deletion	Premature ovarian failure	GBenign
Select item 2654242	NM_001086.3(AADAC):c.15G>A (p.Ser5=)	AADAC, AADACL2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381479	NM_001086.3(AADAC):c.44T>C (p.Ile15Thr)	AADAC, AADACL2-AS1 (I15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129104	NM_001086.3(AADAC):c.62C>T (p.Thr21Met)	AADAC, AADACL2-AS1 (T21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397517	NM_001086.3(AADAC):c.74A>T (p.Asp25Val)	AADAC, AADACL2-AS1 (D25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322659	NM_001086.3(AADAC):c.79G>A (p.Val27Ile)	AADAC, AADACL2-AS1 (V27I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378353	NM_001086.3(AADAC):c.115C>T (p.His39Tyr)	AADAC, AADACL2-AS1 (H39Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411694	NM_001086.3(AADAC):c.132A>C (p.Gln44His)	AADAC, AADACL2-AS1 (Q44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615754	NM_001086.3(AADAC):c.191T>A (p.Val64Asp)	AADAC, AADACL2-AS1 (V64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128827	NM_001086.3(AADAC):c.211G>A (p.Val71Ile)	AADAC, AADACL2-AS1 (V71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525312	NM_001086.3(AADAC):c.229G>A (p.Glu77Lys)	AADAC, AADACL2-AS1 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234978	NM_001086.3(AADAC):c.290A>G (p.Lys97Arg)	AADAC, AADACL2-AS1 (K97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482049	NM_001086.3(AADAC):c.362C>G (p.Ala121Gly)	AADAC, AADACL2-AS1 (A121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338152	NM_001086.3(AADAC):c.506G>A (p.Arg169His)	AADAC, AADACL2-AS1 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318922	NM_001086.3(AADAC):c.556T>G (p.Ser186Ala)	AADAC, AADACL2-AS1 (S186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526440	NM_001086.3(AADAC):c.620A>T (p.Asp207Val)	AADAC, AADACL2-AS1 (D207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332511	NM_001086.3(AADAC):c.621T>A (p.Asp207Glu)	AADAC, AADACL2-AS1 (D207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129144	NM_001086.3(AADAC):c.687A>C (p.Leu229Phe)	AADAC, AADACL2-AS1 (L229F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508876	NM_001086.3(AADAC):c.709A>T (p.Asn237Tyr)	AADAC, AADACL2-AS1 (N237Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278590	NM_001086.3(AADAC):c.956C>A (p.Ala319Glu)	AADAC, AADACL2-AS1 (A319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279961	NM_001086.3(AADAC):c.988C>T (p.Arg330Cys)	AADAC, AADACL2-AS1 (R330C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213834	NM_001086.3(AADAC):c.1076C>T (p.Thr359Ile)	AADAC, AADACL2-AS1 (T359I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373869	NM_001086.3(AADAC):c.1087G>A (p.Val363Met)	AADAC, AADACL2-AS1 (V363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592546	NM_001086.3(AADAC):c.1126T>C (p.Phe376Leu)	AADAC, AADACL2-AS1 (F376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323516	NM_001086.3(AADAC):c.1142T>A (p.Leu381His)	AADAC, AADACL2-AS1 (L381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312726	NM_001086.3(AADAC):c.1170G>T (p.Gln390His)	AADAC, AADACL2-AS1 (Q390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128724	NM_001086.3(AADAC):c.1172A>G (p.Tyr391Cys)	AADAC, AADACL2-AS1 (Y391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312727	NM_001086.3(AADAC):c.1193A>C (p.Asn398Thr)	AADAC, AADACL2-AS1 (N398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654243	NM_001086.3(AADAC):c.1198T>C (p.Ter400Gln)	AADAC, AADACL2-AS1	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 2685936	GRCh37/hg19 3q25.1(chr3:151150422-151674799)x3	AADAC, AADACL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527045	GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718)	AADAC, AADACL2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 442527	GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	AADAC, AADACL2 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 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

Search results

Items: 50