AAR2[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +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	AAR2, ACOT8 +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)	not specified	GUncertain significance
Select item 3134419	NM_001271874.2(AAR2):c.136C>T (p.Arg46Trp)	AAR2 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345901	NM_001271874.2(AAR2):c.137G>A (p.Arg46Gln)	AAR2 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261228	NM_001271874.2(AAR2):c.157C>G (p.Pro53Ala)	AAR2 (P53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134538	NM_001271874.2(AAR2):c.212T>C (p.Val71Ala)	AAR2 (V71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134564	NM_001271874.2(AAR2):c.268C>T (p.Arg90Cys)	AAR2 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261096	NM_001271874.2(AAR2):c.304C>G (p.Pro102Ala)	AAR2 (P102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405985	NM_001271874.2(AAR2):c.320A>T (p.Glu107Val)	AAR2 (E107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134612	NM_001271874.2(AAR2):c.343C>G (p.Leu115Val)	AAR2 (L115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334745	NM_001271874.2(AAR2):c.347A>T (p.Gln116Leu)	AAR2 (Q116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234323	NM_001271874.2(AAR2):c.351G>A (p.Glu117=)	AAR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261195	NM_001271874.2(AAR2):c.434T>G (p.Val145Gly)	AAR2 (V145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385916	NM_001271874.2(AAR2):c.462G>C (p.Gln154His)	AAR2 (Q154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242897	NM_001271874.2(AAR2):c.520G>A (p.Val174Met)	AAR2 (V174M)	Single nucleotide variant (missense variant)	Microcephaly +7 more	GLikely pathogenic
Select item 3260993	NM_001271874.2(AAR2):c.580C>T (p.Arg194Trp)	AAR2 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345939	NM_001271874.2(AAR2):c.581G>A (p.Arg194Gln)	AAR2 (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224348	NM_001271874.2(AAR2):c.715G>A (p.Val239Met)	AAR2 (V239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360885	NM_001271874.2(AAR2):c.721A>T (p.Asn241Tyr)	AAR2 (N241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206058	NM_001271874.2(AAR2):c.847C>T (p.Arg283Trp)	AAR2 (R283W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611477	NM_001271874.2(AAR2):c.854A>G (p.Glu285Gly)	AAR2 (E285G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261027	NM_001271874.2(AAR2):c.1018G>A (p.Val340Met)	AAR2 (V340M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3134340	NM_001271874.2(AAR2):c.1135G>A (p.Glu379Lys)	AAR2 (E379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261326	NM_001271874.2(AAR2):c.1151G>A (p.Gly384Asp)	AAR2 (G384D)	Single nucleotide variant (missense variant)	not specified	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	AAR2, ABHD12 +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: 34