AAR2[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 2515051	NM_001271874.2(AAR2):c.17T>C (p.Met6Thr)	AAR2 (M6T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345901	NM_001271874.2(AAR2):c.137G>A (p.Arg46Gln)	AAR2 (R46Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405985	NM_001271874.2(AAR2):c.320A>T (p.Glu107Val)	AAR2 (E107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334745	NM_001271874.2(AAR2):c.347A>T (p.Gln116Leu)	AAR2 (Q116L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385916	NM_001271874.2(AAR2):c.462G>C (p.Gln154His)	AAR2 (Q154H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242897	NM_001271874.2(AAR2):c.520G>A (p.Val174Met)	AAR2 (V174M)	Single nucleotide variant (missense variant)	Global developmental delay +7 more	GLikely pathogenic
Select item 2345939	NM_001271874.2(AAR2):c.581G>A (p.Arg194Gln)	AAR2 (R194Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224348	NM_001271874.2(AAR2):c.715G>A (p.Val239Met)	AAR2 (V239M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360885	NM_001271874.2(AAR2):c.721A>T (p.Asn241Tyr)	AAR2 (N241Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206058	NM_001271874.2(AAR2):c.847C>T (p.Arg283Trp)	AAR2 (R283W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611477	NM_001271874.2(AAR2):c.854A>G (p.Glu285Gly)	AAR2 (E285G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707835	NM_001271874.2(AAR2):c.1093G>A (p.Ala365Thr)	AAR2 (A365T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2350251	NM_001271874.2(AAR2):c.1112C>T (p.Ala371Val)	AAR2 (A371V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684905	GRCh37/hg19 20q11.23(chr20:34795376-35025530)x3	AAR2, DLGAP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 22