"GeneDx"[submitter] AND "ADA2"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 421492	NM_001282225.2(ADA2):c.1501T>C (p.Trp501Arg)	ADA2 (W459R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285778	NM_001282225.2(ADA2):c.1442+119G>C	ADA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1266748	NM_001282225.2(ADA2):c.1442+31G>A	ADA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 402526	NM_001282225.2(ADA2):c.1442+11T>C	ADA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 402527	NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=)	ADA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 402528	NM_001282225.2(ADA2):c.1240-5C>G	ADA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1250709	NM_001282225.2(ADA2):c.1240-164G>C	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 189343	NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)	ADA2 (G142S +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 827684	NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	ADA2 (N129K +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1239638	NM_001282225.2(ADA2):c.1082-153T>C	ADA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290359	NM_001282225.2(ADA2):c.1082-905G>A	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267211	NM_001282225.2(ADA2):c.1082-1137T>C	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226344	NM_001282225.2(ADA2):c.1081+235_1081+236del	ADA2	Deletion (intron variant)	not provided	GBenign
Select item 1249486	NM_001282225.2(ADA2):c.1081+78G>A	ADA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1274937	NM_001282225.2(ADA2):c.1081+30C>T	ADA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 420337	NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg)	ADA2 (G316R +3 more)	Single nucleotide variant (missense variant)	ADA2-related disorder +2 more	GPathogenic
Select item 1168873	NM_001282225.2(ADA2):c.1004A>G (p.His335Arg)	ADA2 (H215R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +2 more	GBenign
Select item 2577717	NM_001282225.2(ADA2):c.988A>G (p.Thr330Ala)	ADA2 (T210A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541735	NM_001282225.2(ADA2):c.973-2A>G	ADA2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 1181140	NM_001282225.2(ADA2):c.973-69C>G	ADA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265849	NM_001282225.2(ADA2):c.973-125G>A	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280977	NM_001282225.2(ADA2):c.973-132A>G	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226542	NM_001282225.2(ADA2):c.973-160A>G	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264436	NM_001282225.2(ADA2):c.972+46C>T	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243574	NM_001282225.2(ADA2):c.972+25G>A	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241223	NM_001282225.2(ADA2):c.882-120G>A	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254999	NM_001282225.2(ADA2):c.882-130G>A	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290482	NM_001282225.2(ADA2):c.754-55G>T	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246739	NM_001282225.2(ADA2):c.753+3934T>G	ADA2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1226292	NM_001282225.2(ADA2):c.753+3866_753+3868del	ADA2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1247088	NM_001282225.2(ADA2):c.753+3730_753+3731insAT	ADA2	Insertion (intron variant)	not provided	GBenign
Select item 1286857	NM_001282225.2(ADA2):c.753+3724_753+3729del	ADA2	Deletion (intron variant)	not provided	GBenign
Select item 1278588	NM_001282225.2(ADA2):c.753+141A>T	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225657	NM_001282225.2(ADA2):c.753+109G>A	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 120305	NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)	ADA2 (P251L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 421491	NM_001282225.2(ADA2):c.563T>C (p.Leu188Pro)	ADA2 (L146P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 120303	NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	ADA2 (R169Q +2 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +4 more	GPathogenic/Likely pathogenic
Select item 120302	NM_001282225.2(ADA2):c.336C>G (p.His112Gln)	ADA2 (H112Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1257645	NM_001282225.2(ADA2):c.323-33C>T	ADA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 120306	NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)	ADA2 (G47V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 120301	NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)	ADA2 (G47A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 541731	NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp)	ADA2 (G47W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1407177	NM_001282225.2(ADA2):c.2T>C (p.Met1Thr)	ADA2 (M1T)	Single nucleotide variant (missense variant +2 more)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 1255343	NM_001282225.2(ADA2):c.-46-185dup	ADA2	Duplication (intron variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253399	GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	CECR2, GAB4 +17 more	Copy number gain	See cases	GPathogenic

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Items: 51