AADACL2[gene] - ClinVar

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Items: 41

	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 3129623	NM_207365.4(AADACL2):c.64C>T (p.Pro22Ser)	AADACL2 (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348648	NM_207365.4(AADACL2):c.149T>C (p.Phe50Ser)	AADACL2 (F50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241782	NM_207365.4(AADACL2):c.239C>T (p.Thr80Ile)	AADACL2 (T80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513917	NM_207365.4(AADACL2):c.314G>A (p.Arg105Gln)	AADACL2 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615115	NM_207365.4(AADACL2):c.346T>C (p.Cys116Arg)	AADACL2 (C116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489180	NM_207365.4(AADACL2):c.350T>A (p.Phe117Tyr)	AADACL2 (F117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325193	NM_207365.4(AADACL2):c.442G>A (p.Ala148Thr)	AADACL2 (A148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129502	NM_207365.4(AADACL2):c.490G>A (p.Val164Ile)	AADACL2 (V164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129528	NM_207365.4(AADACL2):c.527A>G (p.Tyr176Cys)	AADACL2 (Y176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129555	NM_207365.4(AADACL2):c.582A>T (p.Leu194Phe)	AADACL2 (L194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509785	NM_207365.4(AADACL2):c.623T>G (p.Ile208Arg)	AADACL2, AADACL2-AS1 (I208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408663	NM_207365.4(AADACL2):c.725C>T (p.Thr242Ile)	AADACL2, AADACL2-AS1 (T242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560986	NM_207365.4(AADACL2):c.805C>T (p.His269Tyr)	AADACL2, AADACL2-AS1 (H269Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129709	NM_207365.4(AADACL2):c.863C>T (p.Pro288Leu)	AADACL2, AADACL2-AS1 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129746	NM_207365.4(AADACL2):c.887T>C (p.Val296Ala)	AADACL2, AADACL2-AS1 (V296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316551	NM_207365.4(AADACL2):c.926T>C (p.Leu309Ser)	AADACL2, AADACL2-AS1 (L309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324326	NM_207365.4(AADACL2):c.965C>T (p.Ala322Val)	AADACL2, AADACL2-AS1 (A322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129285	NM_207365.4(AADACL2):c.1101G>C (p.Glu367Asp)	AADACL2, AADACL2-AS1 (E367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293580	NM_207365.4(AADACL2):c.1118C>T (p.Ala373Val)	AADACL2, AADACL2-AS1 (A373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129345	NM_207365.4(AADACL2):c.1127T>C (p.Phe376Ser)	AADACL2, AADACL2-AS1 (F376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359001	NM_207365.4(AADACL2):c.1151G>A (p.Arg384His)	AADACL2, AADACL2-AS1 (R384H)	Single nucleotide variant (missense variant)	not specified	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

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Items: 41