"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 569098	NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)	ADA2 (E489D +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694257	NM_001282225.2(ADA2):c.1465G>A (p.Glu489Lys)	ADA2 (E248K +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 541736	NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln)	ADA2 (E489Q +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 860051	NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs)	ADA2 (K346fs +3 more)	Deletion (frameshift variant)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 474906	NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)	ADA2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 120299	NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)	ADA2 (Y453C +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1694256	NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile)	ADA2 (T187I +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694255	NM_001282225.2(ADA2):c.1240-6G>A	ADA2	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694254	NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu)	ADA2 (I164L +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 851467	NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup)	ADA2	Duplication (inframe_insertion)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694253	NM_001282225.2(ADA2):c.1135A>T (p.Thr379Ser)	ADA2 (T138S +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 859452	NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)	ADA2 (F355L +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 430693	NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)	ADA2 (V307I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1694252	NM_001282225.2(ADA2):c.1039G>A (p.Asp347Asn)	ADA2 (D106N +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 934737	NM_001282225.2(ADA2):c.1033G>C (p.Ala345Pro)	ADA2 (A104P +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1694264	NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu)	ADA2 (G201E +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 375247	NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)	ADA2 (M267I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1694263	NM_001282225.2(ADA2):c.754-5C>T	ADA2	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 707866	NM_001282225.2(ADA2):c.689G>A (p.Arg230Gln)	ADA2 (R110Q +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 733273	NM_001282225.2(ADA2):c.687C>T (p.Phe229=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 541739	NM_001282225.2(ADA2):c.660C>T (p.Tyr220=)	ADA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 647422	NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)	ADA2 (P73L +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694262	NM_001282225.2(ADA2):c.562C>G (p.Leu188Val)	ADA2 (L146V +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 541741	NM_001282225.2(ADA2):c.511C>T (p.Arg171Trp)	ADA2 (R171W +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
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 932575	NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys)	ADA2 (R34C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1450888	NM_001282225.2(ADA2):c.435G>C (p.Gln145His)	ADA2 (Q103H +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694261	NM_001282225.2(ADA2):c.387C>T (p.Thr129=)	ADA2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 652810	NM_001282225.2(ADA2):c.362T>C (p.Met121Thr)	ADA2 (M79T +2 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +2 more	GUncertain significance
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 1349847	NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser)	ADA2 (P106S +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694260	NM_001282225.2(ADA2):c.308G>A (p.Arg103Lys)	ADA2 (R103K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1024845	NM_001282225.2(ADA2):c.272A>G (p.His91Arg)	ADA2 (H49R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694259	NM_001282225.2(ADA2):c.232C>T (p.Leu78=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 582996	NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)	ADA2 (T65M +1 more)	Single nucleotide variant (missense variant +1 more)	Sneddon syndrome +3 more	GConflicting classifications of pathogenicity
Select item 790936	NM_001282225.2(ADA2):c.147G>A (p.Arg49=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Vasculitis due to ADA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 375246	NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp)	ADA2 (R49W +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 541733	NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu)	ADA2 (G48E +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1076271	NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)	ADA2 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	Sneddon syndrome +4 more	GPathogenic
Select item 120304	NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	ADA2 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 844955	NM_001282225.2(ADA2):c.133C>G (p.Arg45Gly)	ADA2 (R3G +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 651648	NM_001282225.2(ADA2):c.104C>T (p.Ala35Val)	ADA2 (A35V)	Single nucleotide variant (missense variant +2 more)	Vasculitis due to ADA2 deficiency +2 more	GUncertain significance
Select item 652530	NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser)	ADA2 (A27S)	Single nucleotide variant (missense variant +2 more)	Vasculitis due to ADA2 deficiency +2 more	GUncertain significance
Select item 1078909	NM_001282225.2(ADA2):c.46C>T (p.Leu16=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 649840	NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln)	ADA2 (R9Q)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance

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Items: 45