ClinVar for MedGen (Select 76449) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500096	NM_001282225.2(ADA2):c.570C>A (p.Thr190=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
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 1660106	NM_001282225.2(ADA2):c.1082-10G>A	ADA2	Single nucleotide variant (intron variant)	Sneddon syndrome +1 more	GLikely benign
Select item 1619757	NM_001282225.2(ADA2):c.1081+18G>A	ADA2	Single nucleotide variant (intron variant)	Sneddon syndrome +1 more	GBenign/Likely benign
Select item 1559876	NM_001282225.2(ADA2):c.753+7C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 1521707	NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys)	ADA2 (S410C +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1510288	NM_001282225.2(ADA2):c.1306A>G (p.Met436Val)	ADA2 (M436V +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 1454512	NM_001282225.2(ADA2):c.754-12del	ADA2	Deletion (intron variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 1454072	NM_001282225.2(ADA2):c.702G>A (p.Glu234=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +2 more	GLikely benign
Select item 1453632	NM_001282225.2(ADA2):c.1081+16G>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 1439587	NM_001282225.2(ADA2):c.647G>T (p.Gly216Val)	ADA2 (G96V +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1436669	NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile)	ADA2 (T93I +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1428288	NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr)	ADA2 (M236T +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 1417001	NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly)	ADA2 (V458G +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1410063	NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile)	ADA2 (M204I +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 1407371	NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala)	ADA2 (G330A +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1398559	NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu)	ADA2 (I126L +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1392684	NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr)	ADA2 (A27T +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1378365	NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr)	ADA2 (F211Y +2 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 1356344	NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr)	ADA2 (A27T)	Single nucleotide variant (missense variant +2 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1353818	NM_001282225.2(ADA2):c.363G>A (p.Met121Ile)	ADA2 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1171012	NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser)	ADA2 (P168S +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1171011	NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del)	ADA2 (F170del +1 more)	Microsatellite (inframe_deletion)	Sneddon syndrome	GPathogenic
Select item 1076271	NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)	ADA2 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GPathogenic
Select item 1063345	NM_001282225.2(ADA2):c.370C>T (p.Leu124=)	ADA2	Single nucleotide variant (synonymous variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 1047739	NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile)	ADA2 (T209I +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1034738	NM_001282225.2(ADA2):c.1071C>A (p.Ala357=)	ADA2	Single nucleotide variant (synonymous variant)	Sneddon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1033820	NM_001282225.2(ADA2):c.1040del (p.Asp347fs)	ADA2 (D347fs +3 more)	Deletion (frameshift variant)	Sneddon syndrome	GPathogenic
Select item 1027878	NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp)	ADA2 (V458D +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1026375	NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser)	ADA2 (G209S +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1008377	NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys)	ADA2 (W162C +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 962792	NM_001282225.2(ADA2):c.32C>T (p.Ala11Val)	ADA2 (A11V)	Single nucleotide variant (missense variant +1 more)	Sneddon syndrome +1 more	GUncertain significance
Select item 955798	NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala)	ADA2 (G6A +1 more)	Single nucleotide variant (missense variant +1 more)	Sneddon syndrome +1 more	GUncertain significance
Select item 953994	NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu)	ADA2 (Q97E +1 more)	Single nucleotide variant (missense variant +1 more)	Sneddon syndrome +1 more	GUncertain significance
Select item 953717	NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn)	ADA2 (D4N)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 946028	NM_001282225.2(ADA2):c.985G>A (p.Asp329Asn)	ADA2 (D287N +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 852813	NM_001282225.2(ADA2):c.878A>G (p.His293Arg)	ADA2 (H173R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 852411	NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter)	ADA2 (R192* +3 more)	Single nucleotide variant (nonsense)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 847063	NM_001282225.2(ADA2):c.143G>T (p.Gly48Val)	ADA2 (G6V +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 827684	NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	ADA2 (N129K +3 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +3 more	GPathogenic/Likely pathogenic
Select item 798215	NM_001282225.2(ADA2):c.426G>T (p.Gly142=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 786263	NM_001282225.2(ADA2):c.1423C>T (p.Leu475=)	ADA2	Single nucleotide variant (synonymous variant)	Sneddon syndrome +1 more	GLikely benign
Select item 751474	NM_001282225.2(ADA2):c.754-8C>T	ADA2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 750354	NM_001282225.2(ADA2):c.717C>T (p.Asn239=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 750152	NM_001282225.2(ADA2):c.555T>C (p.Asn185=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 720161	NM_001282225.2(ADA2):c.783C>T (p.Asp261=)	ADA2	Single nucleotide variant (synonymous variant)	Sneddon syndrome +1 more	GLikely benign
Select item 665280	NM_001282225.2(ADA2):c.950C>T (p.Thr317Met)	ADA2 (T197M +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 658117	NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly)	ADA2 (D216G +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 655737	NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp)	ADA2 (R110W +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	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 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 651648	NM_001282225.2(ADA2):c.104C>T (p.Ala35Val)	ADA2 (A35V)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 648884	NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val)	ADA2 (D132V +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
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 645215	NM_001282225.2(ADA2):c.661_664del (p.Ala221fs)	ADA2 (A101fs +2 more)	Deletion (frameshift variant)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 640066	NM_001282225.2(ADA2):c.144del (p.Arg49fs)	ADA2 (R49fs +1 more)	Deletion (frameshift variant +1 more)	Sneddon syndrome +1 more	GPathogenic
Select item 586963	NM_001282225.2(ADA2):c.144dup (p.Arg49fs)	ADA2 (R7fs +1 more)	Duplication (frameshift variant +1 more)	Sneddon syndrome +3 more	GPathogenic/Likely pathogenic
Select item 582996	NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)	ADA2 (T65M +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 582418	NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr)	ADA2 (A357T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 570286	NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp)	ADA2 (R34W)	Single nucleotide variant (missense variant +2 more)	Sneddon syndrome +1 more	GUncertain significance
Select item 566003	NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr)	ADA2 (I462T +3 more)	Single nucleotide variant (missense variant)	ADA2-related disorder +2 more	GUncertain significance
Select item 541740	NM_001282225.2(ADA2):c.72C>T (p.Phe24=)	ADA2	Single nucleotide variant (synonymous variant +1 more)	Sneddon syndrome +1 more	GLikely benign
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 541735	NM_001282225.2(ADA2):c.973-2A>G	ADA2	Single nucleotide variant (splice acceptor variant)	Sneddon syndrome +3 more	GPathogenic
Select item 541734	NM_001282225.2(ADA2):c.729G>A (p.Met243Ile)	ADA2 (M243I +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 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 541732	NM_001282225.2(ADA2):c.1172A>G (p.His391Arg)	ADA2 (H391R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 522502	NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)	ADA2 (N381K +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 474909	NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro)	ADA2 (L28P)	Single nucleotide variant (missense variant +2 more)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 474908	NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro)	ADA2 (Q145P +2 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 474907	NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln)	ADA2 (K469Q +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 474905	NM_001282225.2(ADA2):c.1071C>T (p.Ala357=)	ADA2	Single nucleotide variant (synonymous variant)	ADA2-related disorder +3 more	GLikely benign
Select item 447832	NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	NOTCH3 (C1099Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 189343	NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)	ADA2 (G142S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189342	NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)	ADA2 (T119A +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 120306	NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)	ADA2 (G47V +1 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 120304	NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	ADA2 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	Sneddon syndrome +3 more	GPathogenic/Likely pathogenic
Select item 120303	NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	ADA2 (R169Q +2 more)	Single nucleotide variant (missense variant)	not provided +5 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)	Vasculitis due to ADA2 deficiency +2 more	GPathogenic
Select item 120299	NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)	ADA2 (Y453C +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +2 more	GPathogenic/Likely pathogenic

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Items: 80