List of variants reported as uncertain significance for X-linked lymphoproliferative syndrome by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)	rs777303823	0.00012
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)	rs199639961	0.00009
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)	rs772035642	0.00003
NM_001167.4(XIAP):c.368G>A (p.Ser123Asn)	rs368343771	0.00003
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)	rs954824608	0.00003
NM_001167.4(XIAP):c.1328G>A (p.Arg443His)	rs1173411245	0.00002
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys)	rs1330516966	0.00002
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)	rs1239294219	0.00002
NM_001167.4(XIAP):c.683T>G (p.Phe228Cys)	rs140973844	0.00002
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)	rs1303880423	0.00002
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)	rs148080493	0.00001
NM_001167.4(XIAP):c.1454A>G (p.Tyr485Cys)	rs1417605676	0.00001
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala)	rs1481750191	0.00001
NM_001167.4(XIAP):c.359A>G (p.Tyr120Cys)	rs773543430	0.00001
NM_001167.4(XIAP):c.697C>T (p.Arg233Trp)	rs906431319	0.00001
NM_001167.4(XIAP):c.716G>A (p.Ser239Asn)	rs751640412	0.00001
NM_001167.4(XIAP):c.838A>C (p.Asn280His)	rs758057572	0.00001
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)	rs1280883217	0.00001
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=)	rs1484311033	0.00001
NM_002351.5(SH2D1A):c.201+4T>G	rs201574927	0.00001
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val)	rs757900199	0.00001
NC_000023.10:g.(?_123019513)_(123020409_?)dup
NC_000023.10:g.(?_123019513)_(123041031_?)dup
NC_000023.10:g.(?_123480147)_(123505241_?)dup
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NM_001167.4(XIAP):c.1015A>G (p.Ile339Val)
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys)	rs2053404854
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)	rs773573633
NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)
NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)
NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)
NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val)	rs2053505712
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile)	rs2053506466
NM_001167.4(XIAP):c.1202G>A (p.Gly401Glu)	rs2053506750
NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)
NM_001167.4(XIAP):c.1234G>T (p.Ala412Ser)	rs2148107469
NM_001167.4(XIAP):c.124G>A (p.Val42Ile)
NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)
NM_001167.4(XIAP):c.1264A>G (p.Met422Val)
NM_001167.4(XIAP):c.1301-1G>A
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)	rs1489246570
NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)
NM_001167.4(XIAP):c.1381G>A (p.Val461Ile)
NM_001167.4(XIAP):c.1386del (p.Phe462fs)	rs2148112215
NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)
NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)
NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr)
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs)	rs2053561076
NM_001167.4(XIAP):c.171A>G (p.Glu57=)	rs1556404487
NM_001167.4(XIAP):c.181G>A (p.Val61Met)	rs2148089430
NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)
NM_001167.4(XIAP):c.203C>T (p.Ala68Val)	rs2148089461
NM_001167.4(XIAP):c.209T>G (p.Val70Gly)
NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly)	rs2053346722
NM_001167.4(XIAP):c.320A>G (p.Asn107Ser)	rs28382721
NM_001167.4(XIAP):c.376C>G (p.His126Asp)	rs2053348107
NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)
NM_001167.4(XIAP):c.445A>G (p.Ile149Val)
NM_001167.4(XIAP):c.459A>G (p.Ile153Met)	rs2148089808
NM_001167.4(XIAP):c.464C>T (p.Pro155Leu)
NM_001167.4(XIAP):c.478A>G (p.Met160Val)
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)	rs2053349276
NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)
NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr)	rs2148089869
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)	rs1602544454
NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)	rs2053350739
NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)
NM_001167.4(XIAP):c.659A>G (p.His220Arg)
NM_001167.4(XIAP):c.660C>G (p.His220Gln)
NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)
NM_001167.4(XIAP):c.693G>A (p.Leu231=)
NM_001167.4(XIAP):c.713G>A (p.Arg238Gln)	rs1226148384
NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)
NM_001167.4(XIAP):c.737C>T (p.Ser246Phe)	rs1602544652
NM_001167.4(XIAP):c.744G>C (p.Arg248Ser)
NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)
NM_001167.4(XIAP):c.776A>G (p.Asn259Ser)	rs1602544717
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)	rs2148090201
NM_001167.4(XIAP):c.802C>T (p.Arg268Trp)	rs2148090224
NM_001167.4(XIAP):c.805A>C (p.Ile269Leu)	rs2148090233
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)	rs2053353262
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)	rs777303823
NM_001167.4(XIAP):c.887A>G (p.Asp296Gly)	rs2148092754
NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)
NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)
NM_001167.4(XIAP):c.977+3A>G	rs2053376412
NM_001167.4(XIAP):c.977+4A>G
NM_001167.4(XIAP):c.978-10_978-4del	rs1602549230
NM_001167.4(XIAP):c.978-9A>G	rs1602549234
NM_001167.4(XIAP):c.979T>A (p.Cys327Ser)
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val)	rs1556619338
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)	rs2059993925
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val)	rs2147531318
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln)	rs111033630
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)	rs111033627
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu)	rs775759946
NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met)	rs2147534671
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu)	rs2060068693
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)	rs2060068721
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly)	rs111033625
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)	rs2059993641

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