ClinVar for MedGen (Select 336848) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244585	NC_000023.10:g.(?_123019513)_(123034563_?)dup	XIAP	Duplication	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3244573	NC_000023.10:g.(?_122459857)_(123020409_?)dup	GRIA3, THOC2 +1 more	Duplication	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3244562	NC_000023.10:g.(?_123025068)_(123041031_?)del	XIAP	Deletion	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3244551	NC_000023.10:g.(?_123010866)_(123025086_?)del	XIAP	Deletion	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3068635	NM_001167.4(XIAP):c.985del (p.Tyr329fs)	XIAP (Y329fs)	Deletion (frameshift variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 3068467	NM_001167.4(XIAP):c.542C>T (p.Pro181Leu)	XIAP (P181L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3013203	NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)	XIAP (A137G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 3005786	NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)	XIAP (N249S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2996254	NM_001167.4(XIAP):c.1100-8del	XIAP	Deletion (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2975529	NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)	XIAP (N403D)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2909635	NM_001167.4(XIAP):c.1452C>T (p.Cys484=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2907668	NM_001167.4(XIAP):c.977+4A>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2904537	NM_001167.4(XIAP):c.1301-6_1301-5del	XIAP	Deletion (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2898410	NM_001167.4(XIAP):c.588C>T (p.Asp196=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2893549	NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)	XIAP (R364G)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2876306	NM_001167.4(XIAP):c.369C>T (p.Ser123=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2870796	NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)	XIAP (E21K)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2867274	NM_001167.4(XIAP):c.481del (p.Tyr161fs)	XIAP (Y161fs)	Deletion (frameshift variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2852144	NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)	XIAP (T356A)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2848864	NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)	XIAP (F228S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2837957	NM_001167.4(XIAP):c.1056+13T>A	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2836768	NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)	XIAP (E164D)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2836709	NM_001167.4(XIAP):c.371del (p.Arg124fs)	XIAP (R124fs)	Deletion (frameshift variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2832707	NM_001167.4(XIAP):c.804G>A (p.Arg268=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2828929	NM_001167.4(XIAP):c.660C>G (p.His220Gln)	XIAP (H220Q)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2827891	NM_001167.4(XIAP):c.1300+10G>T	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2823021	NM_001167.4(XIAP):c.124G>A (p.Val42Ile)	XIAP (V42I)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2822565	NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)	XIAP (L47P)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2812929	NM_001167.4(XIAP):c.209T>G (p.Val70Gly)	XIAP (V70G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2810790	NM_001167.4(XIAP):c.1057-20A>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2805091	NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)	XIAP (S241F)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2800593	NM_001167.4(XIAP):c.249C>T (p.His83=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2778425	NM_001167.4(XIAP):c.1300+12T>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2755365	NM_001167.4(XIAP):c.445A>G (p.Ile149Val)	XIAP (I149V)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2754094	NM_001167.4(XIAP):c.1380C>T (p.Ile460=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2747486	NM_001167.4(XIAP):c.659A>G (p.His220Arg)	XIAP (H220R)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2723066	NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)	XIAP (N35S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2721191	NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)	XIAP (E164G)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2703406	NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)	XIAP (P312S)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2701587	NM_001167.4(XIAP):c.693G>A (p.Leu231=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2700917	NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)	XIAP (R222fs)	Insertion (frameshift variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2696244	NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)	XIAP (R84T)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2695132	NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)	XIAP (D420G)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2634592	NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)	XIAP (R62Q)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GUncertain significance
Select item 2423915	NC_000023.10:g.(?_123019513)_(123041031_?)dup	XIAP	Duplication	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2415019	NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)	XIAP (K322R)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2199152	NM_001167.4(XIAP):c.1257A>G (p.Lys419=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2191704	NM_001167.4(XIAP):c.978-6G>A	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2188656	NM_001167.4(XIAP):c.471C>T (p.Asn157=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2187477	NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)	XIAP (R215C)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2175247	NM_001167.4(XIAP):c.261C>T (p.Ser87=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2152351	NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)	XIAP (C453Y)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2146388	NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)	XIAP (S45L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2142682	NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)	XIAP (E476D)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2138713	NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)	XIAP (R49*)	Single nucleotide variant (nonsense)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2124901	NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)	XIAP (D367N)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2116897	NM_001167.4(XIAP):c.408T>C (p.His136=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2083409	NM_001167.4(XIAP):c.807C>G (p.Ile269Met)	XIAP (I269M)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2079561	NM_001167.4(XIAP):c.666A>G (p.Arg222=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2079171	NM_001167.4(XIAP):c.1299A>G (p.Lys433=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2067973	NM_001167.4(XIAP):c.1122T>C (p.Pro374=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2052135	NM_001167.4(XIAP):c.1056+28_1056+60dup	XIAP	Duplication (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2048465	NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)	XIAP (E337*)	Single nucleotide variant (nonsense +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GPathogenic
Select item 2047962	NM_001167.4(XIAP):c.1264A>G (p.Met422Val)	XIAP (M422V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 2029816	NM_001167.4(XIAP):c.1100-14A>T	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2029709	NM_001167.4(XIAP):c.18T>C (p.Phe6=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2027994	NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe)	XIAP (L348F)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 2020543	NM_001167.4(XIAP):c.1301-17A>T	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2019044	NM_001167.4(XIAP):c.990_991del (p.Leu331fs)	XIAP (L331fs)	Deletion (frameshift variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GPathogenic
Select item 2015919	NM_001167.4(XIAP):c.327T>C (p.Gly109=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2005662	NM_001167.4(XIAP):c.438T>G (p.Val146=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 2003595	NM_001167.4(XIAP):c.979T>A (p.Cys327Ser)	XIAP (C327S)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1999932	NM_001167.4(XIAP):c.738T>C (p.Ser246=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1988882	NM_001167.4(XIAP):c.1015A>G (p.Ile339Val)	XIAP (I339V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1987672	NM_001167.4(XIAP):c.168T>C (p.Gly56=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1982377	NM_001167.4(XIAP):c.464C>T (p.Pro155Leu)	XIAP (P155L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1959205	NM_001167.4(XIAP):c.744G>C (p.Arg248Ser)	XIAP (R248S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1958008	NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr)	XIAP (A477T)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1933719	NM_001167.4(XIAP):c.180C>T (p.Thr60=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1929603	NM_001167.4(XIAP):c.1301-1G>A	XIAP	Single nucleotide variant (splice acceptor variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1913693	NM_001167.4(XIAP):c.465G>A (p.Pro155=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1721417	NM_001167.4(XIAP):c.478A>G (p.Met160Val)	XIAP (M160V)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1716133	NM_001167.4(XIAP):c.1381G>A (p.Val461Ile)	XIAP (V461I)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GUncertain significance
Select item 1715122	NM_001167.4(XIAP):c.532C>T (p.His178Tyr)	XIAP (H178Y)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1684656	NM_001167.4(XIAP):c.-32-5232_878-647del	XIAP	Deletion (splice acceptor variant +2 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely pathogenic
Select item 1673433	NM_001167.4(XIAP):c.1056+13_1056+14del	XIAP	Microsatellite (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1664518	NM_001167.4(XIAP):c.283G>A (p.Gly95Ser)	XIAP (G95S)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1656518	NM_001167.4(XIAP):c.1096A>G (p.Ile366Val)	XIAP (I366V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency +1 more	GBenign/Likely benign
Select item 1643537	NM_001167.4(XIAP):c.1300+7A>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1640917	NM_001167.4(XIAP):c.1100-14A>C	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1640811	NM_001167.4(XIAP):c.1242A>G (p.Leu414=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1618278	NM_001167.4(XIAP):c.1230G>A (p.Leu410=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1617660	NM_001167.4(XIAP):c.446T>C (p.Ile149Thr)	XIAP (I149T)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1614069	NM_001167.4(XIAP):c.296A>G (p.Glu99Gly)	XIAP (E99G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1610715	NM_001167.4(XIAP):c.72A>G (p.Val24=)	XIAP	Single nucleotide variant (synonymous variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1601259	NM_001167.4(XIAP):c.915A>T (p.Gly305=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1599893	NM_001167.4(XIAP):c.1056+19A>T	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1597187	NM_001167.4(XIAP):c.1100-19T>G	XIAP	Single nucleotide variant (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GBenign
Select item 1588238	NM_001167.4(XIAP):c.877+8_877+9del	XIAP	Deletion (intron variant)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign
Select item 1580673	NM_001167.4(XIAP):c.1314A>G (p.Glu438=)	XIAP	Single nucleotide variant (synonymous variant +1 more)	X-linked lymphoproliferative disease due to XIAP deficiency	GLikely benign

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