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	Conflicting classifications of pathogenicity	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Neoplasm of the large intestine Neoplasm of ovary Thyroid tumor Condition: not provided Inborn genetic diseases Nevus sebaceous OCULOECTODERMAL SYNDROME, SOMATIC Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis RASopathy KRAS-related disorder	Criteria Provided Conflicting Classifications	CA122534	rs_112445441	14 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000431806 RCV000421576 RCV000444192 RCV000427102 RCV001092389 RCV001266168 RCV001526657 RCV000791297 RCV001813183 RCV001839444 RCV001857340 RCV004549358
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 Neoplasm of ovary Condition: not provided Acute myeloid leukemia Lung carcinoma Thyroid tumor RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Neoplasm of the large intestine Primary low grade serous adenocarcinoma of ovary Encephalocraniocutaneous lipomatosis Capillary malformation-arteriovenous malformation 1 Congenital Pulmonary Airway Malformations Gastric cancer Atypical endometrial hyperplasia Endometrial hyperplasia without atypia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	22 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000425250 RCV000443973 RCV000548006 RCV000585796 RCV000662266 RCV000426369 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV003327361 RCV004018620
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	SNV Germline	Chr12:25245284	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 2 Cardio-facio-cutaneous syndrome Noonan syndrome Condition: not provided Acute myeloid leukemia Noonan syndrome 3 Cardiofaciocutaneous syndrome 2 Autoimmune lymphoproliferative syndrome type 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280040	rs_104894366	6 SubmittersRCV000043674 RCV000211723 RCV000207495 RCV000850569 RCV001851825
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 Myelodysplastic syndrome Gastric adenocarcinoma Multiple myeloma Medulloblastoma Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Malignant melanoma of skin Melanoma Non-Hodgkin lymphoma Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767
NM_000043.6(FAS):c.721A>C (p.Thr241Pro)	SNV Germline	Chr10:89014163	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a	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 1a	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 1a Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter	CA126570	rs_121913077	2 SubmittersRCV000017965 RCV001071386
NM_000043.6(FAS):c.361C>T (p.Arg121Trp)	SNV Germline	Chr10:89008915	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a	No Assertion Criteria Provided	CA126574	rs_121913078	1 SubmittersRCV000017966
NM_000043.6(FAS):c.779A>T (p.Asp260Val)	SNV Germline	Chr10:89014221	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a 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 1a 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 1a	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 1a	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 1a	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 1a 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 1a	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	Epidermal nevus Juvenile myelomonocytic leukemia Condition: not provided Non-small cell lung carcinoma Malignant melanoma of skin Myelodysplastic syndrome Neoplasm of the large intestine Gastric adenocarcinoma Malignant neoplasm of body of uterus Multiple myeloma Melanoma Acute myeloid leukemia NRAS-related disorder Cardiovascular phenotype RASopathy Noonan syndrome 6 Noonan syndrome and Noonan-related syndrome Autoimmune lymphoproliferative syndrome type 4	Criteria Provided Multiple Submitters No Conflicts	CA130425	rs_121913237	10 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV000439064 RCV000440963 RCV000424239 RCV000427949 RCV000434517 RCV000430706 RCV000417702 RCV000417869 RCV000436228 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV003221788
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	SNV Germline	Chr12:25225709	Likely pathogenic	Condition: not provided Noonan syndrome 3 Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 KRAS-related RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA296084	rs_730880471	4 SubmittersRCV000157937 RCV000999628 RCV000850568 RCV001269478
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 Neoplasm of the large intestine Condition: not provided KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA135570	rs_121913535	9 SubmittersRCV000038268 RCV000144972 RCV000443868 RCV000681039 RCV003335071
NM_006254.4(PRKCD):c.1352+1G>A	SNV Germline	Chr3:53186696	Pathogenic	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	No Assertion Criteria Provided	CA145457	rs_398122958	1 SubmittersRCV000074607
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	SNV Germline	Chr10:89012010	Conflicting classifications of pathogenicity	not specified Autoimmune lymphoproliferative syndrome type 1 Condition: not provided FAS-related disorder	Criteria Provided Conflicting Classifications	CA159637	rs_56006128	13 SubmittersRCV000121048 RCV000407819 RCV000766928 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 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA173992	rs_606231417	4 SubmittersRCV000148290 RCV000788671 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	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA173999	rs_606231422	5 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_000639.3(FASLG):c.451+7A>G	SNV Germline	Chr1:172664397	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1 Autoimmune lymphoproliferative syndrome type 1 Lung cancer	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	Autoimmune lymphoproliferative syndrome type 1 not specified	Criteria Provided Conflicting Classifications	CA1247528	rs_140406512	3 SubmittersRCV000329844 RCV004021376
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	Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1247495	rs_56302117	4 SubmittersRCV000275447 RCV001764258
NM_000639.3(FASLG):c.278C>T (p.Ala93Val)	SNV Germline	Chr1:172659479	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Conflicting Classifications	CA1247494	rs_758796005	2 SubmittersRCV000356098
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	Criteria Provided Conflicting Classifications	CA2052896	rs_146233833	2 SubmittersRCV000338431
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)	SNV Germline	Chr2:201209363	Conflicting classifications of pathogenicity	Condition: not provided Autoimmune lymphoproliferative syndrome type 2A Hypomyelination and Congenital Cataract	Criteria Provided Conflicting Classifications	CA2053200	rs_80358239	7 SubmittersRCV000440171 RCV000378446 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	Neoplasm of the large intestine Multiple myeloma Autoimmune lymphoproliferative syndrome type 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA16602441	rs_121913527	4 SubmittersRCV000444020 RCV000984134 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	Criteria Provided Conflicting Classifications	CA350138101	rs_1553657378	4 SubmittersRCV000604644 RCV000788529
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	Conflicting classifications of pathogenicity	Condition: not provided Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Hashimoto thyroiditis Celiac disease, susceptibility to, 3 Type 1 diabetes mellitus 12 Systemic lupus erythematosus Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Conflicting Classifications	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	Conflicting classifications of pathogenicity	Splenomegaly Autoimmune lymphoproliferative syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	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	2 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_000043.6(FAS):c.110T>A (p.Leu37Ter)	SNV Germline	Chr10:89003108	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter		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		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		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		rs_1581573923	4 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		rs_782612523	2 SubmittersRCV000768295
NM_033360.4(KRAS):c.112-5C>T	SNV Germline	Chr12:25227417	Conflicting classifications of pathogenicity	Linear nevus sebaceous syndrome Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Noonan syndrome 3 Cardiofaciocutaneous syndrome 2 RASopathy 12 conditions	Criteria Provided Conflicting Classifications		rs_376520586	2 SubmittersRCV000768256 RCV002533940 RCV003224447
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter)	SNV Germline	Chr2:201285178	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Conflicting Classifications		rs_747862347	2 SubmittersRCV000778584
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	SNV Germline	Chr2:203870933	Conflicting classifications of pathogenicity	Condition: not provided Hashimoto thyroiditis Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Celiac disease, susceptibility to, 3 Systemic lupus erythematosus Type 1 diabetes mellitus 12	Criteria Provided Conflicting Classifications		rs_1581573970	2 SubmittersRCV000788196 RCV002061137
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		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	Criteria Provided Conflicting Classifications		rs_144572650	2 SubmittersRCV000818271 RCV004028947
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		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		rs_146289210	2 SubmittersRCV000791738 RCV004027394
NM_000043.6(FAS):c.651+1G>T	SNV Germline	Chr10:89012082	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter		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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_35891605	3 SubmittersRCV000981690
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		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		rs_778993919	6 SubmittersRCV000988433 RCV001027571 RCV002252283 RCV002275198
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)	SNV Germline	Chr2:203870685	Conflicting classifications of pathogenicity	not specified Inherited Immunodeficiency Diseases Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Conflicting Classifications		rs_1581573705	3 SubmittersRCV001001111 RCV001027565 RCV001208574
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		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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1688718864	2 SubmittersRCV001053629 RCV001266414
NM_000043.6(FAS):c.323A>G (p.Asp108Gly)	SNV Germline	Chr10:89007826	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter		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		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		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		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		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		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		rs_759351686	2 SubmittersRCV001098808
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		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		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		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		rs_1688714312	1 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		rs_576747810	1 SubmittersRCV001231375
NM_005214.5(CTLA4):c.458-1G>C	SNV Germline	Chr2:203871377	Pathogenic	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Single Submitter		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		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		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		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		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		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		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		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		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		rs_121913080	4 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		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		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		rs_1553669486	1 SubmittersRCV001776308
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		rs_2126048239	2 SubmittersRCV001822767 RCV002542688
NM_000043.6(FAS):c.197-1G>A	SNV Germline	Chr10:89007699	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter		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		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		rs_1581573923	1 SubmittersRCV001976036
NM_000043.6(FAS):c.332A>G (p.His111Arg)	SNV Germline	Chr10:89007835	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter		rs_2133504109	1 SubmittersRCV001884965
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter)	SNV Germline	Chr2:201284892	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter		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		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		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		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		rs_2107257487	2 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		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		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		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		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		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			1 SubmittersRCV002464990
NM_000043.6(FAS):c.335-2A>G	SNV Germline	Chr10:89008887	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			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			1 SubmittersRCV003062288
NM_000043.6(FAS):c.506-1G>C	SNV Germline	Chr10:89010752	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			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			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			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			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			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			1 SubmittersRCV003079037
NM_032977.4(CASP10):c.684+4G>T	SNV Germline	Chr2:201195952	Conflicting classifications of pathogenicity	Autoimmune lymphoproliferative syndrome type 2A CASP10-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002590788 RCV003903728
NM_000043.6(FAS):c.569-1G>T	SNV Germline	Chr10:89011998	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			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			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			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			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			1 SubmittersRCV002974924
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			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			1 SubmittersRCV003011781
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			1 SubmittersRCV003055780
NM_000043.6(FAS):c.676+1G>C	SNV Germline	Chr10:89013368	Pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			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			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			1 SubmittersRCV003517918
NM_000043.6(FAS):c.341A>T (p.Glu114Val)	SNV Germline	Chr10:89008895	Likely pathogenic	Autoimmune lymphoproliferative syndrome type 1	Criteria Provided Single Submitter			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			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			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			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			1 SubmittersRCV003587877
NM_001372051.1(CASP8):c.306-1978G>T	SNV Germline	Chr2:201269538	Pathogenic	Autoimmune lymphoproliferative syndrome type 2B	Criteria Provided Single Submitter			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			1 SubmittersRCV003745147

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

Conflicting classifications of pathogenicity

Breast adenocarcinoma
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
Neoplasm of the large intestine
Neoplasm of ovary
Thyroid tumor
Condition: not provided
Inborn genetic diseases
Nevus sebaceous
OCULOECTODERMAL SYNDROME, SOMATIC
Noonan syndrome and Noonan-related syndrome
Encephalocraniocutaneous lipomatosis
RASopathy
KRAS-related disorder

Criteria Provided
Conflicting Classifications

CA122534

rs_112445441

14 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000431806 RCV000421576 RCV000444192 RCV000427102 RCV001092389 RCV001266168 RCV001526657 RCV000791297 RCV001813183 RCV001839444 RCV001857340 RCV004549358

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
Neoplasm of ovary
Condition: not provided
Acute myeloid leukemia
Lung carcinoma
Thyroid tumor
RASopathy
Cerebral arteriovenous malformation
Vascular Tumors Including Pyogenic Granuloma
Neoplasm of the large intestine
Primary low grade serous adenocarcinoma of ovary
Encephalocraniocutaneous lipomatosis
Capillary malformation-arteriovenous malformation 1
Congenital Pulmonary Airway Malformations
Gastric cancer
Atypical endometrial hyperplasia
Endometrial hyperplasia without atypia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA122538

rs_121913529

22 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000425250 RCV000443973 RCV000548006 RCV000585796 RCV000662266 RCV000426369 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV003327361 RCV004018620

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

SNV
Germline

Chr12:25245284

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280040

rs_104894366

6 SubmittersRCV000043674 RCV000211723 RCV000207495 RCV000850569 RCV001851825

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
Myelodysplastic syndrome
Gastric adenocarcinoma
Multiple myeloma
Medulloblastoma
Neoplasm of the large intestine
Acute myeloid leukemia
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Melanoma
Non-Hodgkin lymphoma
Acute megakaryoblastic leukemia in down syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123620

rs_121434596

6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767

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

SNV
Germline

Chr10:89014163

Pathogenic

Autoimmune lymphoproliferative syndrome, type 1a

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 1a

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 1a
Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

CA126570

rs_121913077

2 SubmittersRCV000017965 RCV001071386

NM_000043.6(FAS):c.361C>T (p.Arg121Trp)

SNV
Germline

Chr10:89008915

Pathogenic

Autoimmune lymphoproliferative syndrome, type 1a

No Assertion Criteria Provided

CA126574

rs_121913078

1 SubmittersRCV000017966

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

SNV
Germline

Chr10:89014221

Pathogenic

Autoimmune lymphoproliferative syndrome, type 1a
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 1a
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 1a

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 1a

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 1a

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 1a
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 1a

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

Epidermal nevus
Juvenile myelomonocytic leukemia
Condition: not provided
Non-small cell lung carcinoma
Malignant melanoma of skin
Myelodysplastic syndrome
Neoplasm of the large intestine
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Multiple myeloma
Melanoma
Acute myeloid leukemia
NRAS-related disorder
Cardiovascular phenotype
RASopathy
Noonan syndrome 6
Noonan syndrome and Noonan-related syndrome
Autoimmune lymphoproliferative syndrome type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA130425

rs_121913237

10 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV000439064 RCV000440963 RCV000424239 RCV000427949 RCV000434517 RCV000430706 RCV000417702 RCV000417869 RCV000436228 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV003221788

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

SNV
Germline

Chr12:25225709

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA296084

rs_730880471

4 SubmittersRCV000157937 RCV000999628 RCV000850568 RCV001269478

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
Neoplasm of the large intestine
Condition: not provided
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA135570

rs_121913535

9 SubmittersRCV000038268 RCV000144972 RCV000443868 RCV000681039 RCV003335071

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

SNV
Germline

Chr3:53186696

Pathogenic

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

No Assertion Criteria Provided

CA145457

rs_398122958

1 SubmittersRCV000074607

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

SNV
Germline

Chr10:89012010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA159637

rs_56006128

13 SubmittersRCV000121048 RCV000407819 RCV000766928 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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA173992

rs_606231417

4 SubmittersRCV000148290 RCV000788671 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

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173999

rs_606231422

5 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_000639.3(FASLG):c.451+7A>G

SNV
Germline

Chr1:172664397

Conflicting classifications of pathogenicity

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

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

Autoimmune lymphoproliferative syndrome type 1
not specified

Criteria Provided
Conflicting Classifications

CA1247528

rs_140406512

3 SubmittersRCV000329844 RCV004021376

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

Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1247495

rs_56302117

4 SubmittersRCV000275447 RCV001764258

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

SNV
Germline

Chr1:172659479

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Conflicting Classifications

CA1247494

rs_758796005

2 SubmittersRCV000356098

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

Criteria Provided
Conflicting Classifications

CA2052896

rs_146233833

2 SubmittersRCV000338431

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

SNV
Germline

Chr2:201209363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2053200

rs_80358239

7 SubmittersRCV000440171 RCV000378446 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

Neoplasm of the large intestine
Multiple myeloma
Autoimmune lymphoproliferative syndrome type 4
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16602441

rs_121913527

4 SubmittersRCV000444020 RCV000984134 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

Criteria Provided
Conflicting Classifications

CA350138101

rs_1553657378

4 SubmittersRCV000604644 RCV000788529

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Conflicting classifications of pathogenicity

Splenomegaly
Autoimmune lymphoproliferative syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

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

2 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_000043.6(FAS):c.110T>A (p.Leu37Ter)

SNV
Germline

Chr10:89003108

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

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

rs_1581573923

4 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

rs_782612523

2 SubmittersRCV000768295

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

SNV
Germline

Chr12:25227417

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_376520586

2 SubmittersRCV000768256 RCV002533940 RCV003224447

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

SNV
Germline

Chr2:201285178

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Conflicting Classifications

rs_747862347

2 SubmittersRCV000778584

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

SNV
Germline

Chr2:203870933

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1581573970

2 SubmittersRCV000788196 RCV002061137

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

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

Criteria Provided
Conflicting Classifications

rs_144572650

2 SubmittersRCV000818271 RCV004028947

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

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

rs_146289210

2 SubmittersRCV000791738 RCV004027394

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

SNV
Germline

Chr10:89012082

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_35891605

3 SubmittersRCV000981690

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

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

rs_778993919

6 SubmittersRCV000988433 RCV001027571 RCV002252283 RCV002275198

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

SNV
Germline

Chr2:203870685

Conflicting classifications of pathogenicity

not specified
Inherited Immunodeficiency Diseases
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Conflicting Classifications

rs_1581573705

3 SubmittersRCV001001111 RCV001027565 RCV001208574

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1688718864

2 SubmittersRCV001053629 RCV001266414

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

SNV
Germline

Chr10:89007826

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_759351686

2 SubmittersRCV001098808

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

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

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

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

rs_1688714312

1 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

rs_576747810

1 SubmittersRCV001231375

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

SNV
Germline

Chr2:203871377

Pathogenic

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

rs_121913080

4 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

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

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

rs_1553669486

1 SubmittersRCV001776308

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

rs_2126048239

2 SubmittersRCV001822767 RCV002542688

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

SNV
Germline

Chr10:89007699

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

rs_1581573923

1 SubmittersRCV001976036

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

SNV
Germline

Chr10:89007835

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

rs_2133504109

1 SubmittersRCV001884965

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

SNV
Germline

Chr2:201284892

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

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

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

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

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

rs_2107257487

2 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

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

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

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

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

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

1 SubmittersRCV002464990

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

SNV
Germline

Chr10:89008887

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003062288

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

SNV
Germline

Chr10:89010752

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003079037

NM_032977.4(CASP10):c.684+4G>T

SNV
Germline

Chr2:201195952

Conflicting classifications of pathogenicity

Autoimmune lymphoproliferative syndrome type 2A
CASP10-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002590788 RCV003903728

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

SNV
Germline

Chr10:89011998

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV002974924

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

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

1 SubmittersRCV003011781

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

1 SubmittersRCV003055780

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

SNV
Germline

Chr10:89013368

Pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003517918

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

SNV
Germline

Chr10:89008895

Likely pathogenic

Autoimmune lymphoproliferative syndrome type 1

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003587877

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

SNV
Germline

Chr2:201269538

Pathogenic

Autoimmune lymphoproliferative syndrome type 2B

Criteria Provided
Single Submitter

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

1 SubmittersRCV003745147