AADAC[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153052	GRCh38/hg38 3q25.1(chr3:151396286-151842231)x1	LINC02066, LOC123192021 +8 more	Copy number loss	See cases	GUncertain significance
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	LOC129937775, LOC129937776 +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)	Inborn genetic diseases	GUncertain significance
Select item 2397517	NM_001086.3(AADAC):c.74A>T (p.Asp25Val)	AADACL2-AS1, AADAC (D25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378353	NM_001086.3(AADAC):c.115C>T (p.His39Tyr)	AADAC, AADACL2-AS1 (H39Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411694	NM_001086.3(AADAC):c.132A>C (p.Gln44His)	AADACL2-AS1, AADAC (Q44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615754	NM_001086.3(AADAC):c.191T>A (p.Val64Asp)	AADAC, AADACL2-AS1 (V64D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525312	NM_001086.3(AADAC):c.229G>A (p.Glu77Lys)	AADAC, AADACL2-AS1 (E77K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234978	NM_001086.3(AADAC):c.290A>G (p.Lys97Arg)	AADACL2-AS1, AADAC (K97R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482049	NM_001086.3(AADAC):c.362C>G (p.Ala121Gly)	AADACL2-AS1, AADAC (A121G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338152	NM_001086.3(AADAC):c.506G>A (p.Arg169His)	AADACL2-AS1, AADAC (R169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318922	NM_001086.3(AADAC):c.556T>G (p.Ser186Ala)	AADACL2-AS1, AADAC (S186A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526440	NM_001086.3(AADAC):c.620A>T (p.Asp207Val)	AADAC, AADACL2-AS1 (D207V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332511	NM_001086.3(AADAC):c.621T>A (p.Asp207Glu)	AADACL2-AS1, AADAC (D207E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508876	NM_001086.3(AADAC):c.709A>T (p.Asn237Tyr)	AADAC, AADACL2-AS1 (N237Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278590	NM_001086.3(AADAC):c.956C>A (p.Ala319Glu)	AADAC, AADACL2-AS1 (A319E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279961	NM_001086.3(AADAC):c.988C>T (p.Arg330Cys)	AADACL2-AS1, AADAC (R330C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213834	NM_001086.3(AADAC):c.1076C>T (p.Thr359Ile)	AADACL2-AS1, AADAC (T359I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373869	NM_001086.3(AADAC):c.1087G>A (p.Val363Met)	AADAC, AADACL2-AS1 (V363M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592546	NM_001086.3(AADAC):c.1126T>C (p.Phe376Leu)	AADAC, AADACL2-AS1 (F376L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312726	NM_001086.3(AADAC):c.1170G>T (p.Gln390His)	AADACL2-AS1, AADAC (Q390H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312727	NM_001086.3(AADAC):c.1193A>C (p.Asn398Thr)	AADACL2-AS1, AADAC (N398T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	AADAC, AADACL2 +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	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +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	FBXL2, FBXO40 +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	ANKUB1, AADAC +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 44