ClinVar for MedGen (Select 336848) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 279

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24239151.	NC_000023.10:g.(?_123019513)_(123041031_?)dup GRCh37: ChrX:123019513-123041031	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 24150192.	NM_001167.4(XIAP):c.965A>G (p.Lys322Arg) GRCh37: ChrX:123022556 GRCh38: ChrX:123888706	XIAP	K322R	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 21991523.	NM_001167.4(XIAP):c.1257A>G (p.Lys419=) GRCh37: ChrX:123034500 GRCh38: ChrX:123900650	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 21917044.	NM_001167.4(XIAP):c.978-6G>A GRCh37: ChrX:123025082 GRCh38: ChrX:123891232	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 21886565.	NM_001167.4(XIAP):c.471C>T (p.Asn157=) GRCh37: ChrX:123019983 GRCh38: ChrX:123886133	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Sep 7, 2022)	criteria provided, single submitter
Select item 21874776.	NM_001167.4(XIAP):c.643C>T (p.Arg215Cys) GRCh37: ChrX:123020155 GRCh38: ChrX:123886305	XIAP	R215C	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 21752477.	NM_001167.4(XIAP):c.261C>T (p.Ser87=) GRCh37: ChrX:123019773 GRCh38: ChrX:123885923	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 21523518.	NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr) GRCh37: ChrX:123040895 GRCh38: ChrX:123907045	XIAP	C453Y	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 21463889.	NM_001167.4(XIAP):c.134C>T (p.Ser45Leu) GRCh37: ChrX:123019646 GRCh38: ChrX:123885796	XIAP	S45L	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 214268210.	NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp) GRCh37: ChrX:123040965 GRCh38: ChrX:123907115	XIAP	E476D	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 213871311.	NM_001167.4(XIAP):c.145C>T (p.Arg49Ter) GRCh37: ChrX:123019657 GRCh38: ChrX:123885807	XIAP	R49*	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 212490112.	NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn) GRCh37: ChrX:123026623 GRCh38: ChrX:123892773	XIAP	D367N	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211689713.	NM_001167.4(XIAP):c.408T>C (p.His136=) GRCh37: ChrX:123019920 GRCh38: ChrX:123886070	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 208340914.	NM_001167.4(XIAP):c.807C>G (p.Ile269Met) GRCh37: ChrX:123020319 GRCh38: ChrX:123886469	XIAP	I269M	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207956115.	NM_001167.4(XIAP):c.666A>G (p.Arg222=) GRCh37: ChrX:123020178 GRCh38: ChrX:123886328	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 207917116.	NM_001167.4(XIAP):c.1299A>G (p.Lys433=) GRCh37: ChrX:123034542 GRCh38: ChrX:123900692	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Sep 29, 2022)	criteria provided, single submitter
Select item 206797317.	NM_001167.4(XIAP):c.1122T>C (p.Pro374=) GRCh37: ChrX:123034365 GRCh38: ChrX:123900515	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Aug 29, 2022)	criteria provided, single submitter
Select item 205213518.	NM_001167.4(XIAP):c.1056+28_1056+60dup GRCh37: ChrX:123025176-123025177 GRCh38: ChrX:123891326-123891327	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 204846519.	NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter) GRCh37: ChrX:123025119 GRCh38: ChrX:123891269	XIAP	E337*	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 204796220.	NM_001167.4(XIAP):c.1264A>G (p.Met422Val) GRCh37: ChrX:123034507 GRCh38: ChrX:123900657	XIAP	M422V	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 202981621.	NM_001167.4(XIAP):c.1100-14A>T GRCh37: ChrX:123034329 GRCh38: ChrX:123900479	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202970922.	NM_001167.4(XIAP):c.18T>C (p.Phe6=) GRCh37: ChrX:123019530 GRCh38: ChrX:123885680	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202799423.	NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe) GRCh37: ChrX:123025152 GRCh38: ChrX:123891302	XIAP	L348F	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 202054324.	NM_001167.4(XIAP):c.1301-17A>T GRCh37: ChrX:123040821 GRCh38: ChrX:123906971	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 201904425.	NM_001167.4(XIAP):c.990_991del (p.Leu331fs) GRCh37: ChrX:123025099-123025100 GRCh38: ChrX:123891249-123891250	XIAP	L331fs	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 201591926.	NM_001167.4(XIAP):c.327T>C (p.Gly109=) GRCh37: ChrX:123019839 GRCh38: ChrX:123885989	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 200566227.	NM_001167.4(XIAP):c.438T>G (p.Val146=) GRCh37: ChrX:123019950 GRCh38: ChrX:123886100	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200359528.	NM_001167.4(XIAP):c.979T>A (p.Cys327Ser) GRCh37: ChrX:123025089 GRCh38: ChrX:123891239	XIAP	C327S	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199993229.	NM_001167.4(XIAP):c.738T>C (p.Ser246=) GRCh37: ChrX:123020250 GRCh38: ChrX:123886400	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 198888230.	NM_001167.4(XIAP):c.1015A>G (p.Ile339Val) GRCh37: ChrX:123025125 GRCh38: ChrX:123891275	XIAP	I339V	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 198767231.	NM_001167.4(XIAP):c.168T>C (p.Gly56=) GRCh37: ChrX:123019680 GRCh38: ChrX:123885830	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 198237732.	NM_001167.4(XIAP):c.464C>T (p.Pro155Leu) GRCh37: ChrX:123019976 GRCh38: ChrX:123886126	XIAP	P155L	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 195920533.	NM_001167.4(XIAP):c.744G>C (p.Arg248Ser) GRCh37: ChrX:123020256 GRCh38: ChrX:123886406	XIAP	R248S	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 195800834.	NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr) GRCh37: ChrX:123040966 GRCh38: ChrX:123907116	XIAP	A477T	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 193371935.	NM_001167.4(XIAP):c.180C>T (p.Thr60=) GRCh37: ChrX:123019692 GRCh38: ChrX:123885842	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 192960336.	NM_001167.4(XIAP):c.1301-1G>A GRCh37: ChrX:123040837 GRCh38: ChrX:123906987	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 191369337.	NM_001167.4(XIAP):c.465G>A (p.Pro155=) GRCh37: ChrX:123019977 GRCh38: ChrX:123886127	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 172141738.	NM_001167.4(XIAP):c.478A>G (p.Met160Val) GRCh37: ChrX:123019990 GRCh38: ChrX:123886140	XIAP	M160V	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 171613339.	NM_001167.4(XIAP):c.1381G>A (p.Val461Ile) GRCh37: ChrX:123040918 GRCh38: ChrX:123907068	XIAP	V461I	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 171512240.	NM_001167.4(XIAP):c.532C>T (p.His178Tyr) GRCh37: ChrX:123020044 GRCh38: ChrX:123886194	XIAP	H178Y	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 168465641.	NM_001167.4(XIAP):c.-32-5232_878-647del GRCh37: ChrX:123014249-123021822 GRCh38: ChrX:123880399-123887972	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 167343342.	NM_001167.4(XIAP):c.1056+13_1056+14del GRCh37: ChrX:123025176-123025177 GRCh38: ChrX:123891326-123891327	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Dec 27, 2021)	criteria provided, single submitter
Select item 166451843.	NM_001167.4(XIAP):c.283G>A (p.Gly95Ser) GRCh37: ChrX:123019795 GRCh38: ChrX:123885945	XIAP	G95S	X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jun 11, 2021)	criteria provided, single submitter
Select item 165651844.	NM_001167.4(XIAP):c.1096A>G (p.Ile366Val) GRCh37: ChrX:123026620 GRCh38: ChrX:123892770	XIAP	I366V	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 164353745.	NM_001167.4(XIAP):c.1300+7A>G GRCh37: ChrX:123034550 GRCh38: ChrX:123900700	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Jun 25, 2022)	criteria provided, single submitter
Select item 164091746.	NM_001167.4(XIAP):c.1100-14A>C GRCh37: ChrX:123034329 GRCh38: ChrX:123900479	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 164081147.	NM_001167.4(XIAP):c.1242A>G (p.Leu414=) GRCh37: ChrX:123034485 GRCh38: ChrX:123900635	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 161827848.	NM_001167.4(XIAP):c.1230G>A (p.Leu410=) GRCh37: ChrX:123034473 GRCh38: ChrX:123900623	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Oct 16, 2022)	criteria provided, single submitter
Select item 161766049.	NM_001167.4(XIAP):c.446T>C (p.Ile149Thr) GRCh37: ChrX:123019958 GRCh38: ChrX:123886108	XIAP	I149T	X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 161406950.	NM_001167.4(XIAP):c.296A>G (p.Glu99Gly) GRCh37: ChrX:123019808 GRCh38: ChrX:123885958	XIAP	E99G	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Jul 12, 2022)	criteria provided, single submitter
Select item 161071551.	NM_001167.4(XIAP):c.72A>G (p.Val24=) GRCh37: ChrX:123019584 GRCh38: ChrX:123885734	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 160125952.	NM_001167.4(XIAP):c.915A>T (p.Gly305=) GRCh37: ChrX:123022506 GRCh38: ChrX:123888656	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Mar 15, 2022)	criteria provided, single submitter
Select item 159989353.	NM_001167.4(XIAP):c.1056+19A>T GRCh37: ChrX:123025185 GRCh38: ChrX:123891335	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Sep 20, 2022)	criteria provided, single submitter
Select item 159718754.	NM_001167.4(XIAP):c.1100-19T>G GRCh37: ChrX:123034324 GRCh38: ChrX:123900474	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 158823855.	NM_001167.4(XIAP):c.877+8_877+9del GRCh37: ChrX:123020396-123020397 GRCh38: ChrX:123886546-123886547	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 158067356.	NM_001167.4(XIAP):c.1314A>G (p.Glu438=) GRCh37: ChrX:123040851 GRCh38: ChrX:123907001	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 158045057.	NM_001167.4(XIAP):c.1437C>T (p.Asp479=) GRCh37: ChrX:123040974 GRCh38: ChrX:123907124	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 156807158.	NM_001167.4(XIAP):c.486T>C (p.Ser162=) GRCh37: ChrX:123019998 GRCh38: ChrX:123886148	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Sep 14, 2021)	criteria provided, single submitter
Select item 155836359.	NM_001167.4(XIAP):c.1099+20A>G GRCh37: ChrX:123026643 GRCh38: ChrX:123892793	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Feb 3, 2021)	criteria provided, single submitter
Select item 155468260.	NM_001167.4(XIAP):c.1301-20A>C GRCh37: ChrX:123040818 GRCh38: ChrX:123906968	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 155399661.	NM_001167.4(XIAP):c.1056+21_1056+22del GRCh37: ChrX:123025184-123025185 GRCh38: ChrX:123891334-123891335	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 20, 2021)	criteria provided, single submitter
Select item 153903662.	NM_001167.4(XIAP):c.1300+17T>C GRCh37: ChrX:123034560 GRCh38: ChrX:123900710	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jun 13, 2021)	criteria provided, single submitter
Select item 153575063.	NM_001167.4(XIAP):c.549G>A (p.Glu183=) GRCh37: ChrX:123020061 GRCh38: ChrX:123886211	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Oct 22, 2021)	criteria provided, single submitter
Select item 149329364.	NM_001167.4(XIAP):c.802C>T (p.Arg268Trp) GRCh37: ChrX:123020314 GRCh38: ChrX:123886464	XIAP	R268W	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 149231665.	NM_001167.4(XIAP):c.1234G>T (p.Ala412Ser) GRCh37: ChrX:123034477 GRCh38: ChrX:123900627	XIAP	A412S	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 148709766.	NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) GRCh37: ChrX:123040854-123040855 GRCh38: ChrX:123907004-123907005	XIAP	Q440*	X-linked lymphoproliferative disease due to XIAP deficiency	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 148252367.	NM_001167.4(XIAP):c.1386del (p.Phe462fs) GRCh37: ChrX:123040919 GRCh38: ChrX:123907069	XIAP	F462fs	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 147953768.	NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del) GRCh37: ChrX:123020120-123020122 GRCh38: ChrX:123886270-123886272	XIAP	G205del	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 146974469.	NM_001167.4(XIAP):c.778C>T (p.Pro260Ser) GRCh37: ChrX:123020290 GRCh38: ChrX:123886440	XIAP	P260S	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 145626970.	NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) GRCh37: ChrX:123025158 GRCh38: ChrX:123891308	XIAP	E350*	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Jun 14, 2021)	criteria provided, single submitter
Select item 145538271.	NC_000023.10:g.(?_122318388)_(123505241_?)del GRCh37: ChrX:122318388-123505241	STAG2, THOC2, XIAP, GRIA3, SH2D1A		not provided, X-linked lymphoproliferative disease due to XIAP deficiency	Conflicting interpretations of pathogenicity (Dec 23, 2021)	criteria provided, conflicting interpretations
Select item 145296472.	NM_001167.4(XIAP):c.921_924del (p.Thr308fs) GRCh37: ChrX:123022510-123022513 GRCh38: ChrX:123888660-123888663	XIAP	T308fs	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Oct 20, 2021)	criteria provided, single submitter
Select item 141857673.	NM_001167.4(XIAP):c.887A>G (p.Asp296Gly) GRCh37: ChrX:123022478 GRCh38: ChrX:123888628	XIAP	D296G	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 141832374.	NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) GRCh37: ChrX:123040852 GRCh38: ChrX:123907002	XIAP	E439*	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 141787875.	NM_001167.4(XIAP):c.368G>A (p.Ser123Asn) GRCh37: ChrX:123019880 GRCh38: ChrX:123886030	XIAP	S123N	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 141030676.	NC_000023.10:g.(?_123019513)_(123020409_?)dup GRCh37: ChrX:123019513-123020409	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 138819477.	NM_001167.4(XIAP):c.805A>C (p.Ile269Leu) GRCh37: ChrX:123020317 GRCh38: ChrX:123886467	XIAP	I269L	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 137577078.	NM_001167.4(XIAP):c.755dup (p.Asn252fs) GRCh37: ChrX:123020264-123020265 GRCh38: ChrX:123886414-123886415	XIAP	N252fs	X-linked lymphoproliferative disease due to XIAP deficiency	Pathogenic (Sep 20, 2021)	criteria provided, single submitter
Select item 136848079.	NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr) GRCh37: ChrX:123020021 GRCh38: ChrX:123886171	XIAP	F170Y	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 136525980.	NM_001167.4(XIAP):c.459A>G (p.Ile153Met) GRCh37: ChrX:123019971 GRCh38: ChrX:123886121	XIAP	I153M	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 136022281.	NM_001167.4(XIAP):c.697C>T (p.Arg233Trp) GRCh37: ChrX:123020209 GRCh38: ChrX:123886359	XIAP	R233W	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 135977982.	NM_001167.4(XIAP):c.1328G>A (p.Arg443His) GRCh37: ChrX:123040865 GRCh38: ChrX:123907015	XIAP	R443H	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 135249183.	NM_001167.4(XIAP):c.300T>C (p.Asn100=) GRCh37: ChrX:123019812 GRCh38: ChrX:123885962	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 134935084.	NM_001167.4(XIAP):c.181G>A (p.Val61Met) GRCh37: ChrX:123019693 GRCh38: ChrX:123885843	XIAP	V61M	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 134793185.	NM_001167.4(XIAP):c.716G>A (p.Ser239Asn) GRCh37: ChrX:123020228 GRCh38: ChrX:123886378	XIAP	S239N	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 130733986.	NM_001167.4(XIAP):c.203C>T (p.Ala68Val) GRCh37: ChrX:123019715 GRCh38: ChrX:123885865	XIAP	A68V	not provided, X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118502987.	NM_001167.4(XIAP):c.581T>A (p.Ile194Asn) GRCh37: ChrX:123020093 GRCh38: ChrX:123886243	XIAP	I194N	X-linked lymphoproliferative disease due to XIAP deficiency	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 116730388.	NM_001167.4(XIAP):c.878-5C>G GRCh37: ChrX:123022464 GRCh38: ChrX:123888614	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Sep 29, 2022)	criteria provided, single submitter
Select item 116726989.	NM_001167.4(XIAP):c.1416A>G (p.Lys472=) GRCh37: ChrX:123040953 GRCh38: ChrX:123907103	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 116658690.	NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg) GRCh37: ChrX:123034439 GRCh38: ChrX:123900589	XIAP	I399R	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (May 12, 2022)	criteria provided, single submitter
Select item 116617691.	NM_001167.4(XIAP):c.1194G>T (p.Gln398His) GRCh37: ChrX:123034437 GRCh38: ChrX:123900587	XIAP	Q398H	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Jun 26, 2022)	criteria provided, single submitter
Select item 116553992.	NM_001167.4(XIAP):c.23G>A (p.Gly8Glu) GRCh37: ChrX:123019535 GRCh38: ChrX:123885685	XIAP	G8E	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (May 25, 2022)	criteria provided, single submitter
Select item 116506693.	NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala) GRCh37: ChrX:123026599 GRCh38: ChrX:123892749	XIAP	T359A	X-linked lymphoproliferative disease due to XIAP deficiency	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 116439094.	NM_001167.4(XIAP):c.308C>T (p.Thr103Met) GRCh37: ChrX:123019820 GRCh38: ChrX:123885970	XIAP	T103M	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 116415195.	NM_001167.4(XIAP):c.146G>A (p.Arg49Gln) GRCh37: ChrX:123019658 GRCh38: ChrX:123885808	XIAP	R49Q	X-linked lymphoproliferative disease due to XIAP deficiency	Benign (Apr 11, 2019)	criteria provided, single submitter
Select item 116291396.	NM_001167.4(XIAP):c.894_898del (p.Lys299fs) GRCh37: ChrX:123022479-123022483 GRCh38: ChrX:123888629-123888633	XIAP	K299fs	X-linked lymphoproliferative disease due to XIAP deficiency, not provided	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 114142097.	NM_001167.4(XIAP):c.1101T>C (p.Asp367=) GRCh37: ChrX:123034344 GRCh38: ChrX:123900494	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 113979098.	NM_001167.4(XIAP):c.870T>C (p.Tyr290=) GRCh37: ChrX:123020382 GRCh38: ChrX:123886532	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Aug 10, 2020)	criteria provided, single submitter
Select item 113943399.	NM_001167.4(XIAP):c.1149G>A (p.Gly383=) GRCh37: ChrX:123034392 GRCh38: ChrX:123900542	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (May 5, 2021)	criteria provided, single submitter
Select item 1110213100.	NM_001167.4(XIAP):c.878-4G>A GRCh37: ChrX:123022465 GRCh38: ChrX:123888615	XIAP		X-linked lymphoproliferative disease due to XIAP deficiency	Likely benign (Jul 25, 2022)	criteria provided, single submitter

<< First< Prev

Page of 3