Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp)	SNV Germline	Chr2:201276908	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA119046	rs_17860424	2 SubmittersRCV000008201
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr12:25245347	Pathogenic	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 OCULOECTODERMAL SYNDROME, SOMATIC Condition: not provided Inborn genetic diseases Nevus sebaceous Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis RASopathy Neoplasm KRAS-related disorder Familial pancreatic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122534	rs_112445441	15 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000791297 RCV001092389 RCV001266168 RCV001526657 RCV001813183 RCV001839444 RCV001857340 RCV004668723 RCV004549358 RCV004813034
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr12:25245350	Pathogenic/Likely pathogenic	Carcinoma of pancreas Epidermal nevus Nevus sebaceous Linear nevus sebaceous syndrome Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Non-small cell lung carcinoma Ovarian neoplasm Condition: not provided Acute myeloid leukemia RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Primary low grade serous adenocarcinoma of ovary Capillary malformation-arteriovenous malformation 1 Encephalocraniocutaneous lipomatosis Gastric cancer Endometrial hyperplasia without atypia Atypical endometrial hyperplasia Congenital Pulmonary Airway Malformations Neoplasm Cardiovascular phenotype 12 conditions KRAS-related overgrowth	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	25 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001799604 RCV001839445 RCV002508117 RCV003327361 RCV004554600 RCV004668724 RCV004018620 RCV005007840 RCV005251035
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	SNV Germline	Chr12:25245284	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 2 Condition: not provided Noonan syndrome Cardio-facio-cutaneous syndrome Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Noonan syndrome 3 Cardiofaciocutaneous syndrome 2 RASopathy Noonan syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA280040	rs_104894366	7 SubmittersRCV000043674 RCV000207495 RCV000211723 RCV000850569 RCV001851825 RCV005252679
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr1:114716123	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome 6 Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Acute megakaryoblastic leukemia in down syndrome RASopathy Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	8 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV001293767 RCV005089258 RCV005229792
NM_000043.6(FAS):c.721A>C (p.Thr241Pro)	SNV Germline	Chr10:89014163	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	No Assertion Criteria Provided	CA126567	rs_121913076	1 SubmittersRCV000017963
NM_000043.6(FAS):c.569-2A>C	SNV Germline	Chr10:89011997	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	No Assertion Criteria Provided	CA212969	rs_606231363	1 SubmittersRCV000017964
NM_000043.6(FAS):c.817C>T (p.Gln273Ter)	SNV Germline	Chr10:89014259	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA126570	rs_121913077	2 SubmittersRCV000017965 RCV001071386
NM_000043.6(FAS):c.779A>T (p.Asp260Val)	SNV Germline	Chr10:89014221	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA126581	rs_28929498	2 SubmittersRCV000017968 RCV002513090
NM_000043.6(FAS):c.749G>C (p.Arg250Pro)	SNV Germline	Chr10:89014191	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA126583	rs_121913080	4 SubmittersRCV000017969 RCV000638906 RCV001701481
NM_000043.6(FAS):c.651+2T>A	SNV Germline	Chr10:89012083	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	No Assertion Criteria Provided	CA212970	rs_267607122	1 SubmittersRCV000017971
NM_000043.6(FAS):c.73G>A (p.Ala25Thr)	SNV Germline	Chr10:89003071	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	No Assertion Criteria Provided	CA212971	rs_606231364	1 SubmittersRCV000017972
NM_000043.6(FAS):c.740G>C (p.Gly247Ala)	SNV Germline	Chr10:89014182	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	No Assertion Criteria Provided	CA126602	rs_121913085	1 SubmittersRCV000017977
NM_000043.6(FAS):c.651+2T>C	SNV Germline	Chr10:89012083	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA126606	rs_267607122	3 SubmittersRCV000017978 RCV001382233
NM_000043.6(FAS):c.778G>T (p.Asp260Tyr)	SNV Germline	Chr10:89014220	Pathogenic	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	No Assertion Criteria Provided	CA126607	rs_121913086	1 SubmittersRCV000017980
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia Epidermal nevus Condition: not provided NRAS-related disorder Cardiovascular phenotype RASopathy Noonan syndrome 6 Noonan syndrome and Noonan-related syndrome Colorectal cancer Autoimmune lymphoproliferative syndrome type 4	Criteria Provided Multiple Submitters No Conflicts	CA130425	rs_121913237	14 SubmittersRCV000144963 RCV000032849 RCV000158980 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV005603591 RCV003221788
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	SNV Germline	Chr12:25225709	Likely pathogenic	Noonan syndrome 3 KRAS-related RASopathy Acute myeloid leukemia Noonan syndrome 3 Autoimmune lymphoproliferative syndrome type 4 Cardiofaciocutaneous syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA296084	rs_730880471	4 SubmittersRCV000999628 RCV001269478 RCV000850568 RCV000157937
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	SNV Germline/somatic	Chr12:25245348	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Autoimmune lymphoproliferative syndrome type 4 Condition: not provided KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA135570	rs_121913535	8 SubmittersRCV000038268 RCV000144972 RCV000681039 RCV003335071
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)	SNV Germline	Chr7:150951679	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 2 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Multiple Submitters No Conflicts	CA005241	rs_9333649	10 SubmittersRCV000057959 RCV000181811 RCV000631548 RCV000619615 RCV000678923 RCV004813051
NM_006254.4(PRKCD):c.1352+1G>A	SNV Germline	Chr3:53186696	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA145457	rs_398122958	2 SubmittersRCV000074607
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	SNV Germline	Chr10:89012010	Conflicting classifications of pathogenicity	not specified Condition: not provided Autoimmune lymphoproliferative syndrome type 1 FAS-related disorder	Criteria Provided Conflicting Classifications	CA159637	rs_56006128	15 SubmittersRCV000121048 RCV000766928 RCV000407819 RCV003935155
NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser)	SNV Germline	Chr3:53188832	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	No Assertion Criteria Provided	CA171032	rs_606231296	1 SubmittersRCV000144965
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp)	SNV Germline	Chr3:53189969	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Condition: not provided	Criteria Provided Conflicting Classifications	CA171034	rs_606231297	3 SubmittersRCV000144966 RCV003105796
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)	SNV Germline	Chr2:203870627	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided Type 1 diabetes mellitus 12 Celiac disease, susceptibility to, 3 Hashimoto thyroiditis Systemic lupus erythematosus Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA173992	rs_606231417	7 SubmittersRCV000148290 RCV000788671 RCV005016468 RCV002515995
NM_005214.5(CTLA4):c.567+5G>C	SNV Germline	Chr2:203871492	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	No Assertion Criteria Provided	CA173995	rs_606231419	1 SubmittersRCV000148292
NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter)	SNV Germline	Chr2:203868047	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	No Assertion Criteria Provided	CA173996	rs_606231420	1 SubmittersRCV000148293
NM_005214.5(CTLA4):c.109+1G>T	SNV Germline	Chr2:203868052	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA173998	rs_606231421	2 SubmittersRCV000148294
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)	SNV Germline	Chr2:203870684	Pathogenic/Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA173999	rs_606231422	6 SubmittersRCV000148295 RCV001311981
NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln)	SNV Germline	Chr3:53188752	Conflicting classifications of pathogenicity	not specified Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10585980	rs_879255393	3 SubmittersRCV000239035 RCV001857837 RCV003165675
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter)	SNV Germline	Chr2:203868002	Pathogenic/Likely pathogenic	Condition: not provided Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Multiple Submitters No Conflicts	CA10602845	rs_886041906	2 SubmittersRCV000274542 RCV004725136
NM_000639.3(FASLG):c.451+7A>G	SNV Germline	Chr1:172664397	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Lung cancer Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA1247568	rs_201525996	3 SubmittersRCV000275976 RCV001281011
NM_000639.3(FASLG):c.364C>A (p.His122Asn)	SNV Germline	Chr1:172660110	Conflicting classifications of pathogenicity	not specified Autoimmune lymphoproliferative syndrome type 1 FASLG-related disorder	Criteria Provided Conflicting Classifications	CA1247528	rs_140406512	4 SubmittersRCV004021376 RCV000329844 RCV004755851
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu)	SNV Germline	Chr1:172659377	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 not specified	Criteria Provided Conflicting Classifications	CA1247469	rs_375737004	3 SubmittersRCV000260218 RCV004021375
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)	SNV Germline	Chr1:172659481	Conflicting classifications of pathogenicity	Condition: not provided Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA1247495	rs_56302117	4 SubmittersRCV001764258 RCV000275447
NM_000639.3(FASLG):c.278C>T (p.Ala93Val)	SNV Germline	Chr1:172659479	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB not specified	Criteria Provided Conflicting Classifications	CA1247494	rs_758796005	4 SubmittersRCV000356098 RCV005429013 RCV004619252
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu)	SNV Germline	Chr2:201185826	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA2052766	rs_552561721	2 SubmittersRCV000288669
NM_032977.4(CASP10):c.534A>G (p.Val178=)	SNV Germline	Chr2:201193076	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA2052896	rs_146233833	3 SubmittersRCV000338431 RCV004808691
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)	SNV Germline	Chr2:201209363	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A Condition: not provided Hypomyelination and Congenital Cataract	Criteria Provided Conflicting Classifications	CA2053200	rs_80358239	7 SubmittersRCV000378446 RCV000440171 RCV001258256
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln)	SNV Germline	Chr2:201217638	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A not specified	Criteria Provided Conflicting Classifications	CA2053279	rs_535121774	3 SubmittersRCV000315298 RCV003151033
NM_001372051.1(CASP8):c.1304+12C>T	SNV Germline	Chr2:201285329	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Conflicting Classifications	CA2053775	rs_375465590	2 SubmittersRCV000360030
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu)	SNV Germline	Chr2:201217674	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A not specified	Criteria Provided Conflicting Classifications	CA2053282	rs_148939095	4 SubmittersRCV000351475 RCV000481210
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)	SNV Germline	Chr2:201285051	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Conflicting Classifications	CA2053741	rs_768360449	2 SubmittersRCV000302893
NM_032977.4(CASP10):c.729A>G (p.Arg243=)	SNV Germline	Chr2:201205889	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA2053034	rs_374515060	2 SubmittersRCV000272486 RCV002057636
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg)	SNV Germline	Chr2:201208140	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A not specified	Criteria Provided Conflicting Classifications	CA2053088	rs_369897442	3 SubmittersRCV000327608 RCV004021789
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)	SNV Germline	Chr2:201286462	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Conflicting Classifications	CA2053801	rs_777463099	2 SubmittersRCV000268336
NM_032977.4(CASP10):c.20A>G (p.His7Arg)	SNV Germline	Chr2:201185797	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A not specified	Criteria Provided Conflicting Classifications	CA2052764	rs_200935960	3 SubmittersRCV000387671 RCV004021788
NM_001372051.1(CASP8):c.843C>A (p.Ile281=)	SNV Germline	Chr2:201284856	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Conflicting Classifications	CA2053710	rs_199934929	2 SubmittersRCV000392973
NM_000043.6(FAS):c.867A>C (p.Glu289Asp)	SNV Germline	Chr10:89014309	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5593228	rs_377337130	3 SubmittersRCV000337266 RCV003343765
NM_000043.6(FAS):c.432C>T (p.Asp144=)	SNV Germline	Chr10:89008986	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA5593105	rs_574338716	2 SubmittersRCV000381167
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	SNV Germline/somatic	Chr12:25225628	Pathogenic/Likely pathogenic	Multiple myeloma Autoimmune lymphoproliferative syndrome type 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA16602441	rs_121913527	3 SubmittersRCV000984134 RCV002259922 RCV001861474
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)	SNV Germline	Chr2:203870594	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided Celiac disease, susceptibility to, 3 Hashimoto thyroiditis Systemic lupus erythematosus Type 1 diabetes mellitus 12 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA350138101	rs_1553657378	7 SubmittersRCV000604644 RCV000788529 RCV005018832 RCV005549976
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)	SNV Germline	Chr2:203870636	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Conflicting Classifications	CA350138187	rs_1553657387	2 SubmittersRCV000615288
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	SNV Germline	Chr2:203870886	Pathogenic/Likely pathogenic	Condition: not provided Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Type 1 diabetes mellitus 12 Celiac disease, susceptibility to, 3 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Systemic lupus erythematosus Hashimoto thyroiditis	Criteria Provided Multiple Submitters No Conflicts	CA350138741	rs_1553657429	5 SubmittersRCV000498929 RCV000652446 RCV000768197
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser)	SNV Germline	Chr3:53185984	Conflicting classifications of pathogenicity	Condition: not provided Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Conflicting Classifications	CA2452073	rs_33911937	2 SubmittersRCV000506287 RCV001081059
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter)	SNV Germline	Chr2:203870896	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138762	rs_1357409506	1 SubmittersRCV000529257
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr)	SNV Germline	Chr2:203870888	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138742	rs_1553657430	2 SubmittersRCV000585701
NM_005214.5(CTLA4):c.456T>A (p.Ile152=)	SNV Germline	Chr2:203870932	Conflicting classifications of pathogenicity	not specified Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Conflicting Classifications	CA431122326	rs_1242260236	2 SubmittersRCV000611223 RCV001860288
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)	SNV Germline	Chr10:89012008	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5593165	rs_150489856	7 SubmittersRCV000625369 RCV000658571
NM_000043.6(FAS):c.536T>G (p.Leu179Arg)	SNV Germline	Chr10:89010783	Likely pathogenic	Splenomegaly Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377509124	rs_1554851718	3 SubmittersRCV000626571 RCV001051234 RCV001815421
NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu)	SNV Germline	Chr2:203870802	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2067088	rs_144988077	4 SubmittersRCV000652447 RCV003437383
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)	SNV Germline	Chr2:201284905	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Conflicting Classifications	CA2053716	rs_146286958	2 SubmittersRCV000640975
NM_006254.4(PRKCD):c.788-2A>G	SNV Germline	Chr3:53184872	Likely pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA353220286	rs_1295207359	1 SubmittersRCV000651930
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln)	SNV Germline	Chr2:203870886	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Type 1 diabetes mellitus 12 Celiac disease, susceptibility to, 3 Hashimoto thyroiditis Systemic lupus erythematosus Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Conflicting Classifications	CA350138739	rs_1553657429	2 SubmittersRCV000695947 RCV005021075
NM_000043.6(FAS):c.110T>A (p.Leu37Ter)	SNV Germline	Chr10:89003108	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377507479	rs_1564686301	1 SubmittersRCV000704333
NM_000043.6(FAS):c.651+1G>A	SNV Germline	Chr10:89012082	Pathogenic/Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA377509400	rs_1564696849	2 SubmittersRCV000695507
NM_000043.6(FAS):c.197-2A>G	SNV Germline	Chr10:89007698	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	No Assertion Criteria Provided	CA377508064	rs_1564691414	1 SubmittersRCV000735216
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)	SNV Germline	Chr2:203870892	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA350138752	rs_1581573923	5 SubmittersRCV000850251 RCV001311982
NM_006254.4(PRKCD):c.889-9C>T	SNV Germline	Chr3:53185595	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Conflicting Classifications	CA2452011	rs_782612523	2 SubmittersRCV000768295
NM_033360.4(KRAS):c.112-5C>T	SNV Germline	Chr12:25227417	Conflicting classifications of pathogenicity	Noonan syndrome 3 Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Cardiofaciocutaneous syndrome 2 Linear nevus sebaceous syndrome RASopathy 12 conditions	Criteria Provided Conflicting Classifications	CA6486914	rs_376520586	2 SubmittersRCV000768256 RCV002533940 RCV003224447
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter)	SNV Germline	Chr2:201285178	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA2053760	rs_747862347	1 SubmittersRCV000778584
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	SNV Germline	Chr2:203870933	Conflicting classifications of pathogenicity	Hashimoto thyroiditis Systemic lupus erythematosus Type 1 diabetes mellitus 12 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Celiac disease, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA350138843	rs_1581573970	2 SubmittersRCV002061137 RCV000788196
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr)	SNV Germline	Chr2:201209468	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA2053221	rs_760580885	2 SubmittersRCV000986975 RCV001796783
NM_006254.4(PRKCD):c.68C>T (p.Ala23Val)	SNV Germline	Chr3:53178490	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2451632	rs_144572650	4 SubmittersRCV000818271 RCV004028947 RCV004711306
NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr)	SNV Germline	Chr3:53186293	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Condition: not provided	Criteria Provided Conflicting Classifications	CA2452113	rs_150331740	2 SubmittersRCV000803050 RCV000998091
NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met)	SNV Germline	Chr3:53189194	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2452253	rs_146289210	2 SubmittersRCV000791738 RCV004027394
NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys)	SNV Germline	Chr3:53189208	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Condition: not provided	Criteria Provided Conflicting Classifications	CA2452255	rs_141992569	2 SubmittersRCV000813676 RCV004768686
NM_000043.6(FAS):c.506-6C>G	SNV Germline	Chr10:89010747	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA915947514	rs_1589482683	1 SubmittersRCV000797871
NM_000043.6(FAS):c.651+1G>T	SNV Germline	Chr10:89012082	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509402	rs_1564696849	1 SubmittersRCV000805931
NM_000043.6(FAS):c.652-1G>A	SNV Germline	Chr10:89013342	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509409	rs_1589488463	1 SubmittersRCV000822092
NM_000043.6(FAS):c.676+1G>A	SNV Germline	Chr10:89013368	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509465	rs_1589488640	1 SubmittersRCV000799837
NM_032977.4(CASP10):c.81T>C (p.Ile27=)	SNV Germline	Chr2:201185858	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA63899721	rs_751728796	2 SubmittersRCV001140398
NM_006254.4(PRKCD):c.1260+7G>A	SNV Germline	Chr3:53186347	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Conflicting Classifications	CA2452119	rs_374605708	2 SubmittersRCV000912986
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)	SNV Germline	Chr3:53188751	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Condition: not provided	Criteria Provided Conflicting Classifications	CA2452199	rs_35891605	4 SubmittersRCV000981690 RCV004808993
NM_032977.4(CASP10):c.-8+5G>A	SNV Germline	Chr2:201183313	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA63898235	rs_781551128	2 SubmittersRCV000986971 RCV001140397
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	SNV Germline	Chr10:89014190	Pathogenic/Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1 Inherited Immunodeficiency Diseases See cases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377509710	rs_778993919	7 SubmittersRCV000988433 RCV001027571 RCV002252283 RCV002275198
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	SNV Germline	Chr2:203870685	Likely pathogenic	Inherited Immunodeficiency Diseases Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350138293	rs_1581573705	4 SubmittersRCV001027565 RCV001208574 RCV004697021
NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn)	SNV Germline	Chr2:201276941	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA2053660	rs_573893736	2 SubmittersRCV001048674 RCV001772251
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter)	SNV Germline	Chr2:203870825	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138601	rs_1688716836	1 SubmittersRCV001057860
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)	SNV Germline	Chr2:203870912	Pathogenic/Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Inborn genetic diseases CTLA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA350138795	rs_1688718864	4 SubmittersRCV001053629 RCV001266414 RCV004731084
NM_000043.6(FAS):c.323A>G (p.Asp108Gly)	SNV Germline	Chr10:89007826	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508415	rs_1848315820	1 SubmittersRCV001071835
NM_000043.6(FAS):c.758G>T (p.Gly253Val)	SNV Germline	Chr10:89014200	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509733	rs_1848671126	1 SubmittersRCV001070775
NM_000043.6(FAS):c.776T>C (p.Ile259Thr)	SNV Germline	Chr10:89014218	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA377509786	rs_1848675068	2 SubmittersRCV001067019
NM_005214.5(CTLA4):c.109+1G>A	SNV Germline	Chr2:203868052	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138068	rs_606231421	1 SubmittersRCV001039297
NM_005214.5(CTLA4):c.458-1G>T	SNV Germline	Chr2:203871377	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138855	rs_1688729428	1 SubmittersRCV001046603
NM_000639.3(FASLG):c.360G>C (p.Gln120His)	SNV Germline	Chr1:172660106	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA1247526	rs_372615226	3 SubmittersRCV001097063
NM_000639.3(FASLG):c.452-12G>A	SNV Germline	Chr1:172665610	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA32979637	rs_759351686	2 SubmittersRCV001098808
NM_000043.6(FAS):c.84T>C (p.Thr28=)	SNV Germline	Chr10:89003082	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA470728028	rs_1848023281	2 SubmittersRCV001107073
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu)	SNV Germline	Chr2:201208174	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A not specified	Criteria Provided Conflicting Classifications	CA2053093	rs_149912574	3 SubmittersRCV001140510 RCV004032707
NM_032977.4(CASP10):c.442-14T>G	SNV Germline	Chr2:201192970	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA2052880	rs_755555484	2 SubmittersRCV001137518
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter)	SNV Germline	Chr2:201266688	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA2053462	rs_777784105	1 SubmittersRCV001216905
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp)	SNV Germline	Chr2:203870699	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138320	rs_1688714312	2 SubmittersRCV001215551
NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter)	SNV Germline	Chr3:53181732	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA2451828	rs_576747810	1 SubmittersRCV001231375
NM_006254.4(PRKCD):c.267G>A (p.Ser89=)	SNV Germline	Chr3:53179728	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Condition: not provided	Criteria Provided Conflicting Classifications	CA2451718	rs_782214291	2 SubmittersRCV001238980 RCV004692282
NM_005214.5(CTLA4):c.458-1G>C	SNV Germline	Chr2:203871377	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138857	rs_1688729428	1 SubmittersRCV001239952
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr2:201285316	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	No Assertion Criteria Provided	CA350302977	rs_1368296717	1 SubmittersRCV001267745
NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn)	SNV Germline	Chr2:201217625	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A not specified	Criteria Provided Conflicting Classifications	CA2053276	rs_758187673	2 SubmittersRCV001796871 RCV004036366
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter)	SNV Germline	Chr2:203870702	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Multiple Submitters No Conflicts	CA350138326	rs_1688714490	2 SubmittersRCV001331373
NM_001372051.1(CASP8):c.306-1910G>A	SNV Germline	Chr2:201269606	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA2053517	rs_373232880	1 SubmittersRCV001379656
NM_000043.6(FAS):c.778G>A (p.Asp260Asn)	SNV Germline	Chr10:89014220	Pathogenic	Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377509788	rs_121913086	2 SubmittersRCV001379330 RCV001541758
NM_000043.6(FAS):c.442A>T (p.Lys148Ter)	SNV Germline	Chr10:89008996	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508879	rs_2133515017	1 SubmittersRCV001383293
NM_000043.6(FAS):c.644T>A (p.Leu215Ter)	SNV Germline	Chr10:89012074	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509376	rs_2133539468	1 SubmittersRCV001383519
NM_000043.6(FAS):c.676+1G>T	SNV Germline	Chr10:89013368	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509467	rs_1589488640	1 SubmittersRCV001382234
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)	SNV Germline	Chr10:89014191	Pathogenic/Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377509711	rs_121913080	5 SubmittersRCV001382235 RCV001702895
NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp)	SNV Germline	Chr2:201285141	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2053753	rs_549753655	2 SubmittersRCV001435955 RCV002555535
NM_000043.6(FAS):c.20T>C (p.Leu7Pro)	SNV Germline	Chr10:88990896	Likely pathogenic	Condition: not provided Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA377505811	rs_2133384423	2 SubmittersRCV001589843 RCV002573298
NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter)	SNV Germline	Chr3:53187371	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	No Assertion Criteria Provided	CA353222800	rs_1553669486	1 SubmittersRCV001776308
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser)	SNV Germline	Chr1:172665999	Likely pathogenic	Lung cancer Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA343806723	rs_1413244355	2 SubmittersRCV004820889 RCV001789806
NM_032977.4(CASP10):c.1249C>T (p.Leu417=)	SNV Germline	Chr2:201209396	Conflicting classifications of pathogenicity	not specified Autoimmune lymphoproliferative syndrome type 2A	Criteria Provided Conflicting Classifications	CA430829611	rs_2126048239	2 SubmittersRCV001822767 RCV002542688
NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln)	SNV Germline	Chr3:53188815	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2452206	rs_781836069	2 SubmittersRCV001987795 RCV005465643
NM_000043.6(FAS):c.197-1G>A	SNV Germline	Chr10:89007699	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508068	rs_2133502090	1 SubmittersRCV001977467
NM_000043.6(FAS):c.528G>A (p.Trp176Ter)	SNV Germline	Chr10:89010775	Pathogenic	Autoimmune lymphoproliferative syndrome type 1 FAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA211331557	rs_866771343	2 SubmittersRCV001949292 RCV003401971
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser)	SNV Germline	Chr2:203870892	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138751	rs_1581573923	1 SubmittersRCV001976036
NM_000043.6(FAS):c.334+3A>C	SNV Germline	Chr10:89007840	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 FAS-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA930982312	rs_1848316496	3 SubmittersRCV001915772 RCV003892942 RCV004793590
NM_000043.6(FAS):c.332A>G (p.His111Arg)	SNV Germline	Chr10:89007835	Pathogenic/Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377508448	rs_2133504109	2 SubmittersRCV001884965 RCV004591621
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter)	SNV Germline	Chr2:201284892	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA350299128	rs_1457092267	1 SubmittersRCV001898605
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter)	SNV Germline	Chr2:203870714	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138355	rs_1688714703	1 SubmittersRCV001997536
NM_000043.6(FAS):c.259G>T (p.Glu87Ter)	SNV Germline	Chr10:89007762	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508209	rs_2133503091	1 SubmittersRCV001993142
NM_000043.6(FAS):c.506-16A>G	SNV Germline	Chr10:89010737	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA2573145871	rs_2133529359	1 SubmittersRCV002006613
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter)	SNV Germline	Chr3:53179776	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Condition: not provided	Criteria Provided Conflicting Classifications	CA353233437	rs_2107257487	3 SubmittersRCV001939509 RCV002269381
NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter)	SNV Germline	Chr3:53179746	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA353233364	rs_2107257357	1 SubmittersRCV001960700
NM_000639.3(FASLG):c.343C>T (p.Arg115Ter)	SNV Germline	Chr1:172659544	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA1247505	rs_773045347	1 SubmittersRCV001948225
NM_000043.6(FAS):c.505+1G>C	SNV Germline	Chr10:89010601	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509048	rs_2133527951	1 SubmittersRCV002051252
NM_001372051.1(CASP8):c.411+1G>C	SNV Germline	Chr2:201271622	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA350287743	rs_1948252170	1 SubmittersRCV002040866
NM_000043.6(FAS):c.789G>C (p.Lys263Asn)	SNV Germline	Chr10:89014231	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509814	rs_2119446096	1 SubmittersRCV002262183
NM_000043.6(FAS):c.334+2T>C	SNV Germline	Chr10:89007839	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508467	rs_2495102207	1 SubmittersRCV002464990
NM_000043.6(FAS):c.335-2A>G	SNV Germline	Chr10:89008887	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508506	rs_2495121485	1 SubmittersRCV003062287
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)	SNV Germline	Chr10:89008958	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508737	rs_1404280764	1 SubmittersRCV003062288
NM_000043.6(FAS):c.506-1G>C	SNV Germline	Chr10:89010752	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509058	rs_2495160136	1 SubmittersRCV003058262
NM_000043.6(FAS):c.651+5G>T	SNV Germline	Chr10:89012086	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA2580082336	rs_2495187032	1 SubmittersRCV003062289
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)	SNV Germline	Chr10:89014221	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509791	rs_28929498	1 SubmittersRCV003037351
NM_000043.6(FAS):c.814G>A (p.Glu272Lys)	SNV Germline	Chr10:89014256	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509870	rs_2495226256	1 SubmittersRCV003037352
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)	SNV Germline	Chr2:203870926	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138829	rs_2469719710	1 SubmittersRCV003061540
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)	SNV Germline	Chr2:203871414	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138939	rs_2469720798	1 SubmittersRCV003079037
NM_000043.6(FAS):c.569-1G>T	SNV Germline	Chr10:89011998	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509202	rs_2495184504	1 SubmittersRCV002863795
NM_006254.4(PRKCD):c.1743+2T>A	SNV Germline	Chr3:53189248	Likely pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA353224221	rs_2471106746	1 SubmittersRCV002863475
NM_000043.6(FAS):c.30+2T>C	SNV Germline	Chr10:88990908	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA377505859	rs_2494797733	2 SubmittersRCV002885356 RCV003375705
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)	SNV Germline	Chr2:201276845	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA350293696	rs_143410219	1 SubmittersRCV002890277
NM_006254.4(PRKCD):c.788-1G>T	SNV Germline	Chr3:53184873	Likely pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA353220292	rs_2471094850	1 SubmittersRCV002974924
NM_000043.6(FAS):c.857G>A (p.Gly286Glu)	SNV Germline	Chr10:89014299	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509970	rs_2119446879	1 SubmittersRCV003009179
NM_000043.6(FAS):c.140A>G (p.Gln47Arg)	SNV Germline	Chr10:89003138	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5593035	rs_553156945	2 SubmittersRCV002994119 RCV003170815
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)	SNV Germline	Chr10:89014256	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509871	rs_2495226256	1 SubmittersRCV003011781
NM_000043.6(FAS):c.781G>A (p.Glu261Lys)	SNV Germline	Chr10:89014223	Conflicting classifications of pathogenicity	Condition: not provided Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA377509794	rs_2495225308	2 SubmittersRCV004790320 RCV003043703
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)	SNV Germline	Chr2:203870636	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138185	rs_1553657387	1 SubmittersRCV003055780
NM_000043.6(FAS):c.676+1G>C	SNV Germline	Chr10:89013368	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509466	rs_1589488640	1 SubmittersRCV003047954
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)	SNV Germline	Chr2:203870857	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138669	rs_1381701157	1 SubmittersRCV003142406
NM_000043.6(FAS):c.115A>T (p.Lys39Ter)	SNV Germline	Chr10:89003113	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377507498	rs_2495021186	1 SubmittersRCV003517918
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)	SNV Germline	Chr2:203870891	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138749	rs_2469719657	1 SubmittersRCV003586701
NM_000043.6(FAS):c.341A>T (p.Glu114Val)	SNV Germline	Chr10:89008895	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377508523	rs_1435894576	1 SubmittersRCV003518769
NM_000043.6(FAS):c.538C>T (p.Leu180Phe)	SNV Germline	Chr10:89010785	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509129	rs_1848491059	1 SubmittersRCV003518770
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)	SNV Germline	Chr10:89014164	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA5593211	rs_201072885	1 SubmittersRCV003518771
NM_000043.6(FAS):c.833T>A (p.Leu278His)	SNV Germline	Chr10:89014275	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA377509914	rs_2495227180	1 SubmittersRCV003517093
NM_005214.5(CTLA4):c.110-1G>A	SNV Germline	Chr2:203870585	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter	CA350138078	rs_2469719131	1 SubmittersRCV003587877
NM_000043.6(FAS):c.412A>G (p.Thr138Ala)	SNV Germline	Chr10:89008966	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA377508765	rs_1430810569	2 SubmittersRCV003633778 RCV004763731
NM_001372051.1(CASP8):c.306-1978G>T	SNV Germline	Chr2:201269538	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter	CA2053497	rs_758051022	1 SubmittersRCV003619487
NM_006254.4(PRKCD):c.571+1G>A	SNV Germline	Chr3:53181733	Likely pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter	CA353234745	rs_1703450134	1 SubmittersRCV003745147
NM_000043.6(FAS):c.713G>T (p.Gly238Val)	SNV Germline	Chr10:89014155	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004596018
NM_005214.5(CTLA4):c.173G>A (p.Cys58Tyr)	SNV Germline	Chr2:203870649	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter			1 SubmittersRCV004720195
NM_000043.6(FAS):c.748C>G (p.Arg250Gly)	SNV Germline	Chr10:89014190	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004776504
NM_000043.6(FAS):c.381C>A (p.Cys127Ter)	SNV Germline	Chr10:89008935	Pathogenic	Autoimmune lymphoproliferative syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004788455
NM_005214.5(CTLA4):c.221T>C (p.Leu74Pro)	SNV Germline	Chr2:203870697	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	No Assertion Criteria Provided			1 SubmittersRCV004801490
NM_006254.4(PRKCD):c.1073G>A (p.Gly358Asp)	SNV Germline	Chr3:53186014	Likely pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter			1 SubmittersRCV004813439
NM_005214.5(CTLA4):c.401T>G (p.Met134Arg)	SNV Germline	Chr2:203870877	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	No Assertion Criteria Provided			1 SubmittersRCV005012281
NM_006254.4(PRKCD):c.657+1G>A	SNV Germline	Chr3:53183207	Likely pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter			1 SubmittersRCV005128450
NM_001372051.1(CASP8):c.306-1G>A	SNV Germline	Chr2:201271515	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005128674
NM_006254.4(PRKCD):c.1542T>G (p.Tyr514Ter)	SNV Germline	Chr3:53188846	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Criteria Provided Single Submitter			1 SubmittersRCV005125766
NM_000043.6(FAS):c.506-3C>T	SNV Germline	Chr10:89010750	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005137672
NM_000043.6(FAS):c.786C>G (p.Ile262Met)	SNV Germline	Chr10:89014228	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005154491
NM_005214.5(CTLA4):c.178T>A (p.Tyr60Asn)	SNV Germline	Chr2:203870654	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter			1 SubmittersRCV005179208
NM_000043.6(FAS):c.133G>T (p.Glu45Ter)	SNV Germline	Chr10:89003131	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005200824
NM_000043.6(FAS):c.797A>G (p.Asn266Ser)	SNV Germline	Chr10:89014239	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005200825
NM_005214.5(CTLA4):c.412C>T (p.Pro138Ser)	SNV Germline	Chr2:203870888	Likely pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter			1 SubmittersRCV005431085

NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp)

SNV
Germline

Chr2:201276908

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA119046

rs_17860424

2 SubmittersRCV000008201

NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)

SNV
Germline/somatic

Chr12:25245347

Pathogenic

Breast adenocarcinoma
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
OCULOECTODERMAL SYNDROME, SOMATIC
Condition: not provided
Inborn genetic diseases
Nevus sebaceous
Noonan syndrome and Noonan-related syndrome
Encephalocraniocutaneous lipomatosis
RASopathy
Neoplasm
KRAS-related disorder
Familial pancreatic carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122534

rs_112445441

15 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000791297 RCV001092389 RCV001266168 RCV001526657 RCV001813183 RCV001839444 RCV001857340 RCV004668723 RCV004549358 RCV004813034

NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)

SNV
Germline/somatic

Chr12:25245350

Pathogenic/Likely pathogenic

Carcinoma of pancreas
Epidermal nevus
Nevus sebaceous
Linear nevus sebaceous syndrome
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
Non-small cell lung carcinoma
Ovarian neoplasm
Condition: not provided
Acute myeloid leukemia
RASopathy
Cerebral arteriovenous malformation
Vascular Tumors Including Pyogenic Granuloma
Primary low grade serous adenocarcinoma of ovary
Capillary malformation-arteriovenous malformation 1
Encephalocraniocutaneous lipomatosis
Gastric cancer
Endometrial hyperplasia without atypia
Atypical endometrial hyperplasia
Congenital Pulmonary Airway Malformations
Neoplasm
Cardiovascular phenotype
12 conditions
KRAS-related overgrowth

Criteria Provided
Multiple Submitters
No Conflicts

CA122538

rs_121913529

25 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001799604 RCV001839445 RCV002508117 RCV003327361 RCV004554600 RCV004668724 RCV004018620 RCV005007840 RCV005251035

NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)

SNV
Germline

Chr12:25245284

Pathogenic/Likely pathogenic

Cardiofaciocutaneous syndrome 2
Condition: not provided
Noonan syndrome
Cardio-facio-cutaneous syndrome
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
Noonan syndrome 3
Cardiofaciocutaneous syndrome 2
RASopathy
Noonan syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA280040

rs_104894366

7 SubmittersRCV000043674 RCV000207495 RCV000211723 RCV000850569 RCV001851825 RCV005252679

NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)

SNV
Germline/somatic

Chr1:114716123

Pathogenic/Likely pathogenic

Juvenile myelomonocytic leukemia
Noonan syndrome 6
Autoimmune lymphoproliferative syndrome type 4
Condition: not provided
Acute megakaryoblastic leukemia in down syndrome
RASopathy
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA123620

rs_121434596

8 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV001293767 RCV005089258 RCV005229792

NM_000043.6(FAS):c.721A>C (p.Thr241Pro)

SNV
Germline

Chr10:89014163

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

No Assertion Criteria Provided

CA126567

rs_121913076

1 SubmittersRCV000017963

NM_000043.6(FAS):c.569-2A>C

SNV
Germline

Chr10:89011997

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

No Assertion Criteria Provided

CA212969

rs_606231363

1 SubmittersRCV000017964

NM_000043.6(FAS):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr10:89014259

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA126570

rs_121913077

2 SubmittersRCV000017965 RCV001071386

NM_000043.6(FAS):c.779A>T (p.Asp260Val)

SNV
Germline

Chr10:89014221

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA126581

rs_28929498

2 SubmittersRCV000017968 RCV002513090

NM_000043.6(FAS):c.749G>C (p.Arg250Pro)

SNV
Germline

Chr10:89014191

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA126583

rs_121913080

4 SubmittersRCV000017969 RCV000638906 RCV001701481

NM_000043.6(FAS):c.651+2T>A

SNV
Germline

Chr10:89012083

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

No Assertion Criteria Provided

CA212970

rs_267607122

1 SubmittersRCV000017971

NM_000043.6(FAS):c.73G>A (p.Ala25Thr)

SNV
Germline

Chr10:89003071

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

No Assertion Criteria Provided

CA212971

rs_606231364

1 SubmittersRCV000017972

NM_000043.6(FAS):c.740G>C (p.Gly247Ala)

SNV
Germline

Chr10:89014182

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

No Assertion Criteria Provided

CA126602

rs_121913085

1 SubmittersRCV000017977

NM_000043.6(FAS):c.651+2T>C

SNV
Germline

Chr10:89012083

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA126606

rs_267607122

3 SubmittersRCV000017978 RCV001382233

NM_000043.6(FAS):c.778G>T (p.Asp260Tyr)

SNV
Germline

Chr10:89014220

Pathogenic

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

No Assertion Criteria Provided

CA126607

rs_121913086

1 SubmittersRCV000017980

NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)

SNV
Germline/somatic

Chr1:114716126

Pathogenic/Likely pathogenic

Juvenile myelomonocytic leukemia
Epidermal nevus
Condition: not provided
NRAS-related disorder
Cardiovascular phenotype
RASopathy
Noonan syndrome 6
Noonan syndrome and Noonan-related syndrome
Colorectal cancer
Autoimmune lymphoproliferative syndrome type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA130425

rs_121913237

14 SubmittersRCV000144963 RCV000032849 RCV000158980 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV005603591 RCV003221788

NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)

SNV
Germline

Chr12:25225709

Likely pathogenic

Noonan syndrome 3
KRAS-related RASopathy
Acute myeloid leukemia
Noonan syndrome 3
Autoimmune lymphoproliferative syndrome type 4
Cardiofaciocutaneous syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA296084

rs_730880471

4 SubmittersRCV000999628 RCV001269478 RCV000850568 RCV000157937

NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)

SNV
Germline/somatic

Chr12:25245348

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Autoimmune lymphoproliferative syndrome type 4
Condition: not provided
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA135570

rs_121913535

8 SubmittersRCV000038268 RCV000144972 RCV000681039 RCV003335071

NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)

SNV
Germline

Chr7:150951679

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA005241

rs_9333649

10 SubmittersRCV000057959 RCV000181811 RCV000631548 RCV000619615 RCV000678923 RCV004813051

NM_006254.4(PRKCD):c.1352+1G>A

SNV
Germline

Chr3:53186696

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA145457

rs_398122958

2 SubmittersRCV000074607

NM_000043.6(FAS):c.580G>A (p.Glu194Lys)

SNV
Germline

Chr10:89012010

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autoimmune lymphoproliferative syndrome type 1
FAS-related disorder

Criteria Provided
Conflicting Classifications

CA159637

rs_56006128

15 SubmittersRCV000121048 RCV000766928 RCV000407819 RCV003935155

NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser)

SNV
Germline

Chr3:53188832

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

No Assertion Criteria Provided

CA171032

rs_606231296

1 SubmittersRCV000144965

NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp)

SNV
Germline

Chr3:53189969

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Condition: not provided

Criteria Provided
Conflicting Classifications

CA171034

rs_606231297

3 SubmittersRCV000144966 RCV003105796

NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)

SNV
Germline

Chr2:203870627

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided
Type 1 diabetes mellitus 12
Celiac disease, susceptibility to, 3
Hashimoto thyroiditis
Systemic lupus erythematosus
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA173992

rs_606231417

7 SubmittersRCV000148290 RCV000788671 RCV005016468 RCV002515995

NM_005214.5(CTLA4):c.567+5G>C

SNV
Germline

Chr2:203871492

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

No Assertion Criteria Provided

CA173995

rs_606231419

1 SubmittersRCV000148292

NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter)

SNV
Germline

Chr2:203868047

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

No Assertion Criteria Provided

CA173996

rs_606231420

1 SubmittersRCV000148293

NM_005214.5(CTLA4):c.109+1G>T

SNV
Germline

Chr2:203868052

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA173998

rs_606231421

2 SubmittersRCV000148294

NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)

SNV
Germline

Chr2:203870684

Pathogenic/Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA173999

rs_606231422

6 SubmittersRCV000148295 RCV001311981

NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln)

SNV
Germline

Chr3:53188752

Conflicting classifications of pathogenicity

not specified
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10585980

rs_879255393

3 SubmittersRCV000239035 RCV001857837 RCV003165675

NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter)

SNV
Germline

Chr2:203868002

Pathogenic/Likely pathogenic

Condition: not provided
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10602845

rs_886041906

2 SubmittersRCV000274542 RCV004725136

NM_000639.3(FASLG):c.451+7A>G

SNV
Germline

Chr1:172664397

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Lung cancer
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA1247568

rs_201525996

3 SubmittersRCV000275976 RCV001281011

NM_000639.3(FASLG):c.364C>A (p.His122Asn)

SNV
Germline

Chr1:172660110

Conflicting classifications of pathogenicity

not specified
Autoimmune lymphoproliferative syndrome type 1
FASLG-related disorder

Criteria Provided
Conflicting Classifications

CA1247528

rs_140406512

4 SubmittersRCV004021376 RCV000329844 RCV004755851

NM_000639.3(FASLG):c.176C>T (p.Pro59Leu)

SNV
Germline

Chr1:172659377

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
not specified

Criteria Provided
Conflicting Classifications

CA1247469

rs_375737004

3 SubmittersRCV000260218 RCV004021375

NM_000639.3(FASLG):c.280T>G (p.Leu94Val)

SNV
Germline

Chr1:172659481

Conflicting classifications of pathogenicity

Condition: not provided
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA1247495

rs_56302117

4 SubmittersRCV001764258 RCV000275447

NM_000639.3(FASLG):c.278C>T (p.Ala93Val)

SNV
Germline

Chr1:172659479

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
not specified

Criteria Provided
Conflicting Classifications

CA1247494

rs_758796005

4 SubmittersRCV000356098 RCV005429013 RCV004619252

NM_032977.4(CASP10):c.49A>G (p.Lys17Glu)

SNV
Germline

Chr2:201185826

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA2052766

rs_552561721

2 SubmittersRCV000288669

NM_032977.4(CASP10):c.534A>G (p.Val178=)

SNV
Germline

Chr2:201193076

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2052896

rs_146233833

3 SubmittersRCV000338431 RCV004808691

NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)

SNV
Germline

Chr2:201209363

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
Condition: not provided
Hypomyelination and Congenital Cataract

Criteria Provided
Conflicting Classifications

CA2053200

rs_80358239

7 SubmittersRCV000378446 RCV000440171 RCV001258256

NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr2:201217638

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA2053279

rs_535121774

3 SubmittersRCV000315298 RCV003151033

NM_001372051.1(CASP8):c.1304+12C>T

SNV
Germline

Chr2:201285329

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Conflicting Classifications

CA2053775

rs_375465590

2 SubmittersRCV000360030

NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu)

SNV
Germline

Chr2:201217674

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA2053282

rs_148939095

4 SubmittersRCV000351475 RCV000481210

NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)

SNV
Germline

Chr2:201285051

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Conflicting Classifications

CA2053741

rs_768360449

2 SubmittersRCV000302893

NM_032977.4(CASP10):c.729A>G (p.Arg243=)

SNV
Germline

Chr2:201205889

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA2053034

rs_374515060

2 SubmittersRCV000272486 RCV002057636

NM_032977.4(CASP10):c.879C>A (p.Ser293Arg)

SNV
Germline

Chr2:201208140

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA2053088

rs_369897442

3 SubmittersRCV000327608 RCV004021789

NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)

SNV
Germline

Chr2:201286462

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Conflicting Classifications

CA2053801

rs_777463099

2 SubmittersRCV000268336

NM_032977.4(CASP10):c.20A>G (p.His7Arg)

SNV
Germline

Chr2:201185797

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA2052764

rs_200935960

3 SubmittersRCV000387671 RCV004021788

NM_001372051.1(CASP8):c.843C>A (p.Ile281=)

SNV
Germline

Chr2:201284856

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Conflicting Classifications

CA2053710

rs_199934929

2 SubmittersRCV000392973

NM_000043.6(FAS):c.867A>C (p.Glu289Asp)

SNV
Germline

Chr10:89014309

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5593228

rs_377337130

3 SubmittersRCV000337266 RCV003343765

NM_000043.6(FAS):c.432C>T (p.Asp144=)

SNV
Germline

Chr10:89008986

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA5593105

rs_574338716

2 SubmittersRCV000381167

NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)

SNV
Germline/somatic

Chr12:25225628

Pathogenic/Likely pathogenic

Multiple myeloma
Autoimmune lymphoproliferative syndrome type 4
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16602441

rs_121913527

3 SubmittersRCV000984134 RCV002259922 RCV001861474

NM_005214.5(CTLA4):c.118G>A (p.Val40Met)

SNV
Germline

Chr2:203870594

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided
Celiac disease, susceptibility to, 3
Hashimoto thyroiditis
Systemic lupus erythematosus
Type 1 diabetes mellitus 12
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350138101

rs_1553657378

7 SubmittersRCV000604644 RCV000788529 RCV005018832 RCV005549976

NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr2:203870636

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Conflicting Classifications

CA350138187

rs_1553657387

2 SubmittersRCV000615288

NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)

SNV
Germline

Chr2:203870886

Pathogenic/Likely pathogenic

Condition: not provided
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Type 1 diabetes mellitus 12
Celiac disease, susceptibility to, 3
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Systemic lupus erythematosus
Hashimoto thyroiditis

Criteria Provided
Multiple Submitters
No Conflicts

CA350138741

rs_1553657429

5 SubmittersRCV000498929 RCV000652446 RCV000768197

NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser)

SNV
Germline

Chr3:53185984

Conflicting classifications of pathogenicity

Condition: not provided
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Conflicting Classifications

CA2452073

rs_33911937

2 SubmittersRCV000506287 RCV001081059

NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter)

SNV
Germline

Chr2:203870896

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138762

rs_1357409506

1 SubmittersRCV000529257

NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr)

SNV
Germline

Chr2:203870888

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138742

rs_1553657430

2 SubmittersRCV000585701

NM_005214.5(CTLA4):c.456T>A (p.Ile152=)

SNV
Germline

Chr2:203870932

Conflicting classifications of pathogenicity

not specified
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Conflicting Classifications

CA431122326

rs_1242260236

2 SubmittersRCV000611223 RCV001860288

NM_000043.6(FAS):c.578A>G (p.Lys193Arg)

SNV
Germline

Chr10:89012008

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5593165

rs_150489856

7 SubmittersRCV000625369 RCV000658571

NM_000043.6(FAS):c.536T>G (p.Leu179Arg)

SNV
Germline

Chr10:89010783

Likely pathogenic

Splenomegaly
Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377509124

rs_1554851718

3 SubmittersRCV000626571 RCV001051234 RCV001815421

NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu)

SNV
Germline

Chr2:203870802

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2067088

rs_144988077

4 SubmittersRCV000652447 RCV003437383

NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)

SNV
Germline

Chr2:201284905

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Conflicting Classifications

CA2053716

rs_146286958

2 SubmittersRCV000640975

NM_006254.4(PRKCD):c.788-2A>G

SNV
Germline

Chr3:53184872

Likely pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA353220286

rs_1295207359

1 SubmittersRCV000651930

NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln)

SNV
Germline

Chr2:203870886

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Type 1 diabetes mellitus 12
Celiac disease, susceptibility to, 3
Hashimoto thyroiditis
Systemic lupus erythematosus
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Conflicting Classifications

CA350138739

rs_1553657429

2 SubmittersRCV000695947 RCV005021075

NM_000043.6(FAS):c.110T>A (p.Leu37Ter)

SNV
Germline

Chr10:89003108

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377507479

rs_1564686301

1 SubmittersRCV000704333

NM_000043.6(FAS):c.651+1G>A

SNV
Germline

Chr10:89012082

Pathogenic/Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377509400

rs_1564696849

2 SubmittersRCV000695507

NM_000043.6(FAS):c.197-2A>G

SNV
Germline

Chr10:89007698

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

No Assertion Criteria Provided

CA377508064

rs_1564691414

1 SubmittersRCV000735216

NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)

SNV
Germline

Chr2:203870892

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350138752

rs_1581573923

5 SubmittersRCV000850251 RCV001311982

NM_006254.4(PRKCD):c.889-9C>T

SNV
Germline

Chr3:53185595

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Conflicting Classifications

CA2452011

rs_782612523

2 SubmittersRCV000768295

NM_033360.4(KRAS):c.112-5C>T

SNV
Germline

Chr12:25227417

Conflicting classifications of pathogenicity

Noonan syndrome 3
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
Cardiofaciocutaneous syndrome 2
Linear nevus sebaceous syndrome
RASopathy
12 conditions

Criteria Provided
Conflicting Classifications

CA6486914

rs_376520586

2 SubmittersRCV000768256 RCV002533940 RCV003224447

NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter)

SNV
Germline

Chr2:201285178

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA2053760

rs_747862347

1 SubmittersRCV000778584

NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)

SNV
Germline

Chr2:203870933

Conflicting classifications of pathogenicity

Hashimoto thyroiditis
Systemic lupus erythematosus
Type 1 diabetes mellitus 12
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Celiac disease, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350138843

rs_1581573970

2 SubmittersRCV002061137 RCV000788196

NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr)

SNV
Germline

Chr2:201209468

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA2053221

rs_760580885

2 SubmittersRCV000986975 RCV001796783

NM_006254.4(PRKCD):c.68C>T (p.Ala23Val)

SNV
Germline

Chr3:53178490

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2451632

rs_144572650

4 SubmittersRCV000818271 RCV004028947 RCV004711306

NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr)

SNV
Germline

Chr3:53186293

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2452113

rs_150331740

2 SubmittersRCV000803050 RCV000998091

NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met)

SNV
Germline

Chr3:53189194

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2452253

rs_146289210

2 SubmittersRCV000791738 RCV004027394

NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys)

SNV
Germline

Chr3:53189208

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2452255

rs_141992569

2 SubmittersRCV000813676 RCV004768686

NM_000043.6(FAS):c.506-6C>G

SNV
Germline

Chr10:89010747

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA915947514

rs_1589482683

1 SubmittersRCV000797871

NM_000043.6(FAS):c.651+1G>T

SNV
Germline

Chr10:89012082

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509402

rs_1564696849

1 SubmittersRCV000805931

NM_000043.6(FAS):c.652-1G>A

SNV
Germline

Chr10:89013342

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509409

rs_1589488463

1 SubmittersRCV000822092

NM_000043.6(FAS):c.676+1G>A

SNV
Germline

Chr10:89013368

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509465

rs_1589488640

1 SubmittersRCV000799837

NM_032977.4(CASP10):c.81T>C (p.Ile27=)

SNV
Germline

Chr2:201185858

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA63899721

rs_751728796

2 SubmittersRCV001140398

NM_006254.4(PRKCD):c.1260+7G>A

SNV
Germline

Chr3:53186347

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Conflicting Classifications

CA2452119

rs_374605708

2 SubmittersRCV000912986

NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)

SNV
Germline

Chr3:53188751

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2452199

rs_35891605

4 SubmittersRCV000981690 RCV004808993

NM_032977.4(CASP10):c.-8+5G>A

SNV
Germline

Chr2:201183313

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA63898235

rs_781551128

2 SubmittersRCV000986971 RCV001140397

NM_000043.6(FAS):c.748C>T (p.Arg250Ter)

SNV
Germline

Chr10:89014190

Pathogenic/Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1
Inherited Immunodeficiency Diseases
See cases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377509710

rs_778993919

7 SubmittersRCV000988433 RCV001027571 RCV002252283 RCV002275198

NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)

SNV
Germline

Chr2:203870685

Likely pathogenic

Inherited Immunodeficiency Diseases
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350138293

rs_1581573705

4 SubmittersRCV001027565 RCV001208574 RCV004697021

NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn)

SNV
Germline

Chr2:201276941

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2053660

rs_573893736

2 SubmittersRCV001048674 RCV001772251

NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr2:203870825

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138601

rs_1688716836

1 SubmittersRCV001057860

NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)

SNV
Germline

Chr2:203870912

Pathogenic/Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Inborn genetic diseases
CTLA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA350138795

rs_1688718864

4 SubmittersRCV001053629 RCV001266414 RCV004731084

NM_000043.6(FAS):c.323A>G (p.Asp108Gly)

SNV
Germline

Chr10:89007826

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508415

rs_1848315820

1 SubmittersRCV001071835

NM_000043.6(FAS):c.758G>T (p.Gly253Val)

SNV
Germline

Chr10:89014200

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509733

rs_1848671126

1 SubmittersRCV001070775

NM_000043.6(FAS):c.776T>C (p.Ile259Thr)

SNV
Germline

Chr10:89014218

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377509786

rs_1848675068

2 SubmittersRCV001067019

NM_005214.5(CTLA4):c.109+1G>A

SNV
Germline

Chr2:203868052

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138068

rs_606231421

1 SubmittersRCV001039297

NM_005214.5(CTLA4):c.458-1G>T

SNV
Germline

Chr2:203871377

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138855

rs_1688729428

1 SubmittersRCV001046603

NM_000639.3(FASLG):c.360G>C (p.Gln120His)

SNV
Germline

Chr1:172660106

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA1247526

rs_372615226

3 SubmittersRCV001097063

NM_000639.3(FASLG):c.452-12G>A

SNV
Germline

Chr1:172665610

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA32979637

rs_759351686

2 SubmittersRCV001098808

NM_000043.6(FAS):c.84T>C (p.Thr28=)

SNV
Germline

Chr10:89003082

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA470728028

rs_1848023281

2 SubmittersRCV001107073

NM_032977.4(CASP10):c.913A>G (p.Lys305Glu)

SNV
Germline

Chr2:201208174

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA2053093

rs_149912574

3 SubmittersRCV001140510 RCV004032707

NM_032977.4(CASP10):c.442-14T>G

SNV
Germline

Chr2:201192970

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA2052880

rs_755555484

2 SubmittersRCV001137518

NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr2:201266688

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA2053462

rs_777784105

1 SubmittersRCV001216905

NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp)

SNV
Germline

Chr2:203870699

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138320

rs_1688714312

2 SubmittersRCV001215551

NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr3:53181732

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA2451828

rs_576747810

1 SubmittersRCV001231375

NM_006254.4(PRKCD):c.267G>A (p.Ser89=)

SNV
Germline

Chr3:53179728

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2451718

rs_782214291

2 SubmittersRCV001238980 RCV004692282

NM_005214.5(CTLA4):c.458-1G>C

SNV
Germline

Chr2:203871377

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138857

rs_1688729428

1 SubmittersRCV001239952

NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr2:201285316

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

No Assertion Criteria Provided

CA350302977

rs_1368296717

1 SubmittersRCV001267745

NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn)

SNV
Germline

Chr2:201217625

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
not specified

Criteria Provided
Conflicting Classifications

CA2053276

rs_758187673

2 SubmittersRCV001796871 RCV004036366

NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr2:203870702

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA350138326

rs_1688714490

2 SubmittersRCV001331373

NM_001372051.1(CASP8):c.306-1910G>A

SNV
Germline

Chr2:201269606

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA2053517

rs_373232880

1 SubmittersRCV001379656

NM_000043.6(FAS):c.778G>A (p.Asp260Asn)

SNV
Germline

Chr10:89014220

Pathogenic

Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377509788

rs_121913086

2 SubmittersRCV001379330 RCV001541758

NM_000043.6(FAS):c.442A>T (p.Lys148Ter)

SNV
Germline

Chr10:89008996

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508879

rs_2133515017

1 SubmittersRCV001383293

NM_000043.6(FAS):c.644T>A (p.Leu215Ter)

SNV
Germline

Chr10:89012074

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509376

rs_2133539468

1 SubmittersRCV001383519

NM_000043.6(FAS):c.676+1G>T

SNV
Germline

Chr10:89013368

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509467

rs_1589488640

1 SubmittersRCV001382234

NM_000043.6(FAS):c.749G>A (p.Arg250Gln)

SNV
Germline

Chr10:89014191

Pathogenic/Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377509711

rs_121913080

5 SubmittersRCV001382235 RCV001702895

NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp)

SNV
Germline

Chr2:201285141

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2053753

rs_549753655

2 SubmittersRCV001435955 RCV002555535

NM_000043.6(FAS):c.20T>C (p.Leu7Pro)

SNV
Germline

Chr10:88990896

Likely pathogenic

Condition: not provided
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377505811

rs_2133384423

2 SubmittersRCV001589843 RCV002573298

NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter)

SNV
Germline

Chr3:53187371

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

No Assertion Criteria Provided

CA353222800

rs_1553669486

1 SubmittersRCV001776308

NM_000639.3(FASLG):c.829G>A (p.Gly277Ser)

SNV
Germline

Chr1:172665999

Likely pathogenic

Lung cancer
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA343806723

rs_1413244355

2 SubmittersRCV004820889 RCV001789806

NM_032977.4(CASP10):c.1249C>T (p.Leu417=)

SNV
Germline

Chr2:201209396

Conflicting classifications of pathogenicity

not specified
Autoimmune lymphoproliferative syndrome type 2A

Criteria Provided
Conflicting Classifications

CA430829611

rs_2126048239

2 SubmittersRCV001822767 RCV002542688

NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln)

SNV
Germline

Chr3:53188815

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2452206

rs_781836069

2 SubmittersRCV001987795 RCV005465643

NM_000043.6(FAS):c.197-1G>A

SNV
Germline

Chr10:89007699

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508068

rs_2133502090

1 SubmittersRCV001977467

NM_000043.6(FAS):c.528G>A (p.Trp176Ter)

SNV
Germline

Chr10:89010775

Pathogenic

Autoimmune lymphoproliferative syndrome type 1
FAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA211331557

rs_866771343

2 SubmittersRCV001949292 RCV003401971

NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser)

SNV
Germline

Chr2:203870892

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138751

rs_1581573923

1 SubmittersRCV001976036

NM_000043.6(FAS):c.334+3A>C

SNV
Germline

Chr10:89007840

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
FAS-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA930982312

rs_1848316496

3 SubmittersRCV001915772 RCV003892942 RCV004793590

NM_000043.6(FAS):c.332A>G (p.His111Arg)

SNV
Germline

Chr10:89007835

Pathogenic/Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377508448

rs_2133504109

2 SubmittersRCV001884965 RCV004591621

NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter)

SNV
Germline

Chr2:201284892

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA350299128

rs_1457092267

1 SubmittersRCV001898605

NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr2:203870714

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138355

rs_1688714703

1 SubmittersRCV001997536

NM_000043.6(FAS):c.259G>T (p.Glu87Ter)

SNV
Germline

Chr10:89007762

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508209

rs_2133503091

1 SubmittersRCV001993142

NM_000043.6(FAS):c.506-16A>G

SNV
Germline

Chr10:89010737

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA2573145871

rs_2133529359

1 SubmittersRCV002006613

NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter)

SNV
Germline

Chr3:53179776

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353233437

rs_2107257487

3 SubmittersRCV001939509 RCV002269381

NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter)

SNV
Germline

Chr3:53179746

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA353233364

rs_2107257357

1 SubmittersRCV001960700

NM_000639.3(FASLG):c.343C>T (p.Arg115Ter)

SNV
Germline

Chr1:172659544

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA1247505

rs_773045347

1 SubmittersRCV001948225

NM_000043.6(FAS):c.505+1G>C

SNV
Germline

Chr10:89010601

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509048

rs_2133527951

1 SubmittersRCV002051252

NM_001372051.1(CASP8):c.411+1G>C

SNV
Germline

Chr2:201271622

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA350287743

rs_1948252170

1 SubmittersRCV002040866

NM_000043.6(FAS):c.789G>C (p.Lys263Asn)

SNV
Germline

Chr10:89014231

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509814

rs_2119446096

1 SubmittersRCV002262183

NM_000043.6(FAS):c.334+2T>C

SNV
Germline

Chr10:89007839

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508467

rs_2495102207

1 SubmittersRCV002464990

NM_000043.6(FAS):c.335-2A>G

SNV
Germline

Chr10:89008887

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508506

rs_2495121485

1 SubmittersRCV003062287

NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)

SNV
Germline

Chr10:89008958

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508737

rs_1404280764

1 SubmittersRCV003062288

NM_000043.6(FAS):c.506-1G>C

SNV
Germline

Chr10:89010752

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509058

rs_2495160136

1 SubmittersRCV003058262

NM_000043.6(FAS):c.651+5G>T

SNV
Germline

Chr10:89012086

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA2580082336

rs_2495187032

1 SubmittersRCV003062289

NM_000043.6(FAS):c.779A>G (p.Asp260Gly)

SNV
Germline

Chr10:89014221

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509791

rs_28929498

1 SubmittersRCV003037351

NM_000043.6(FAS):c.814G>A (p.Glu272Lys)

SNV
Germline

Chr10:89014256

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509870

rs_2495226256

1 SubmittersRCV003037352

NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)

SNV
Germline

Chr2:203870926

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138829

rs_2469719710

1 SubmittersRCV003061540

NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)

SNV
Germline

Chr2:203871414

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138939

rs_2469720798

1 SubmittersRCV003079037

NM_000043.6(FAS):c.569-1G>T

SNV
Germline

Chr10:89011998

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509202

rs_2495184504

1 SubmittersRCV002863795

NM_006254.4(PRKCD):c.1743+2T>A

SNV
Germline

Chr3:53189248

Likely pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA353224221

rs_2471106746

1 SubmittersRCV002863475

NM_000043.6(FAS):c.30+2T>C

SNV
Germline

Chr10:88990908

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA377505859

rs_2494797733

2 SubmittersRCV002885356 RCV003375705

NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr2:201276845

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA350293696

rs_143410219

1 SubmittersRCV002890277

NM_006254.4(PRKCD):c.788-1G>T

SNV
Germline

Chr3:53184873

Likely pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA353220292

rs_2471094850

1 SubmittersRCV002974924

NM_000043.6(FAS):c.857G>A (p.Gly286Glu)

SNV
Germline

Chr10:89014299

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509970

rs_2119446879

1 SubmittersRCV003009179

NM_000043.6(FAS):c.140A>G (p.Gln47Arg)

SNV
Germline

Chr10:89003138

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5593035

rs_553156945

2 SubmittersRCV002994119 RCV003170815

NM_000043.6(FAS):c.814G>C (p.Glu272Gln)

SNV
Germline

Chr10:89014256

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509871

rs_2495226256

1 SubmittersRCV003011781

NM_000043.6(FAS):c.781G>A (p.Glu261Lys)

SNV
Germline

Chr10:89014223

Conflicting classifications of pathogenicity

Condition: not provided
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA377509794

rs_2495225308

2 SubmittersRCV004790320 RCV003043703

NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)

SNV
Germline

Chr2:203870636

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138185

rs_1553657387

1 SubmittersRCV003055780

NM_000043.6(FAS):c.676+1G>C

SNV
Germline

Chr10:89013368

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509466

rs_1589488640

1 SubmittersRCV003047954

NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)

SNV
Germline

Chr2:203870857

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138669

rs_1381701157

1 SubmittersRCV003142406

NM_000043.6(FAS):c.115A>T (p.Lys39Ter)

SNV
Germline

Chr10:89003113

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377507498

rs_2495021186

1 SubmittersRCV003517918

NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)

SNV
Germline

Chr2:203870891

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138749

rs_2469719657

1 SubmittersRCV003586701

NM_000043.6(FAS):c.341A>T (p.Glu114Val)

SNV
Germline

Chr10:89008895

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377508523

rs_1435894576

1 SubmittersRCV003518769

NM_000043.6(FAS):c.538C>T (p.Leu180Phe)

SNV
Germline

Chr10:89010785

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509129

rs_1848491059

1 SubmittersRCV003518770

NM_000043.6(FAS):c.722C>A (p.Thr241Lys)

SNV
Germline

Chr10:89014164

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA5593211

rs_201072885

1 SubmittersRCV003518771

NM_000043.6(FAS):c.833T>A (p.Leu278His)

SNV
Germline

Chr10:89014275

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA377509914

rs_2495227180

1 SubmittersRCV003517093

NM_005214.5(CTLA4):c.110-1G>A

SNV
Germline

Chr2:203870585

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

CA350138078

rs_2469719131

1 SubmittersRCV003587877

NM_000043.6(FAS):c.412A>G (p.Thr138Ala)

SNV
Germline

Chr10:89008966

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377508765

rs_1430810569

2 SubmittersRCV003633778 RCV004763731

NM_001372051.1(CASP8):c.306-1978G>T

SNV
Germline

Chr2:201269538

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

CA2053497

rs_758051022

1 SubmittersRCV003619487

NM_006254.4(PRKCD):c.571+1G>A

SNV
Germline

Chr3:53181733

Likely pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

CA353234745

rs_1703450134

1 SubmittersRCV003745147

NM_000043.6(FAS):c.713G>T (p.Gly238Val)

SNV
Germline

Chr10:89014155

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004596018

NM_005214.5(CTLA4):c.173G>A (p.Cys58Tyr)

SNV
Germline

Chr2:203870649

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004720195

NM_000043.6(FAS):c.748C>G (p.Arg250Gly)

SNV
Germline

Chr10:89014190

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004776504

NM_000043.6(FAS):c.381C>A (p.Cys127Ter)

SNV
Germline

Chr10:89008935

Pathogenic

Autoimmune lymphoproliferative syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788455

NM_005214.5(CTLA4):c.221T>C (p.Leu74Pro)

SNV
Germline

Chr2:203870697

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

No Assertion Criteria Provided

1 SubmittersRCV004801490

NM_006254.4(PRKCD):c.1073G>A (p.Gly358Asp)

SNV
Germline

Chr3:53186014

Likely pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

1 SubmittersRCV004813439

NM_005214.5(CTLA4):c.401T>G (p.Met134Arg)

SNV
Germline

Chr2:203870877

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

No Assertion Criteria Provided

1 SubmittersRCV005012281

NM_006254.4(PRKCD):c.657+1G>A

SNV
Germline

Chr3:53183207

Likely pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

1 SubmittersRCV005128450

NM_001372051.1(CASP8):c.306-1G>A

SNV
Germline

Chr2:201271515

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005128674

NM_006254.4(PRKCD):c.1542T>G (p.Tyr514Ter)

SNV
Germline

Chr3:53188846

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Criteria Provided
Single Submitter

1 SubmittersRCV005125766

NM_000043.6(FAS):c.506-3C>T

SNV
Germline

Chr10:89010750

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005137672

NM_000043.6(FAS):c.786C>G (p.Ile262Met)

SNV
Germline

Chr10:89014228

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005154491

NM_005214.5(CTLA4):c.178T>A (p.Tyr60Asn)

SNV
Germline

Chr2:203870654

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005179208

NM_000043.6(FAS):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr10:89003131

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200824

NM_000043.6(FAS):c.797A>G (p.Asn266Ser)

SNV
Germline

Chr10:89014239

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200825

NM_005214.5(CTLA4):c.412C>T (p.Pro138Ser)

SNV
Germline

Chr2:203870888

Likely pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005431085