AADACL2[gene] - ClinVar

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Items: 31

	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 2348648	NM_207365.4(AADACL2):c.149T>C (p.Phe50Ser)	AADACL2 (F50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241782	NM_207365.4(AADACL2):c.239C>T (p.Thr80Ile)	AADACL2 (T80I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513917	NM_207365.4(AADACL2):c.314G>A (p.Arg105Gln)	AADACL2 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615115	NM_207365.4(AADACL2):c.346T>C (p.Cys116Arg)	AADACL2 (C116R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489180	NM_207365.4(AADACL2):c.350T>A (p.Phe117Tyr)	AADACL2 (F117Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509785	NM_207365.4(AADACL2):c.623T>G (p.Ile208Arg)	AADACL2, AADACL2-AS1 (I208R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408663	NM_207365.4(AADACL2):c.725C>T (p.Thr242Ile)	AADACL2, AADACL2-AS1 (T242I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560986	NM_207365.4(AADACL2):c.805C>T (p.His269Tyr)	AADACL2, AADACL2-AS1 (H269Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316551	NM_207365.4(AADACL2):c.926T>C (p.Leu309Ser)	AADACL2-AS1, AADACL2 (L309S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293580	NM_207365.4(AADACL2):c.1118C>T (p.Ala373Val)	AADACL2, AADACL2-AS1 (A373V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359001	NM_207365.4(AADACL2):c.1151G>A (p.Arg384His)	AADACL2, AADACL2-AS1 (R384H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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: 31