Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	SNV Germline	Chr10:97749494	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 33 not specified Spastic tetraparesis Spastic paraplegia Condition: not provided Uveal melanoma Colon adenocarcinoma Colorectal cancer Sarcoma Uterine corpus endometrial carcinoma Gastric cancer Uterine carcinosarcoma Malignant tumor of esophagus Lung cancer Ovarian serous cystadenocarcinoma Thymoma Hepatocellular carcinoma Nonpapillary renal cell carcinoma Cervical cancer Thyroid cancer, nonmedullary, 1 Melanoma Cholangiocarcinoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA114909	rs_35077384	12 SubmittersRCV000001352 RCV000407569 RCV000415084 RCV000471962 RCV001723530 RCV005887172 RCV005887166 RCV005887173 RCV005887174 RCV005887183 RCV005887175 RCV005887177 RCV005887169 RCV005887182 RCV005887176 RCV005887178 RCV005887168 RCV005887170 RCV005887171 RCV005887179 RCV005887180 RCV005887181 RCV005887167
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	SNV Germline	Chr16:3249468	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Inborn genetic diseases Autoinflammatory syndrome Cholangiocarcinoma Malignant tumor of esophagus Nonpapillary renal cell carcinoma Lung cancer Colorectal cancer Uterine carcinosarcoma Cervical cancer Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA280116	rs_11466024	22 SubmittersRCV000002661 RCV000218029 RCV000224408 RCV002362552 RCV002262551 RCV005887220 RCV005887214 RCV005887215 RCV005887221 RCV005887217 RCV005887219 RCV005887216 RCV005887218
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SNV Germline	Chr14:94380925	Pathogenic/Pathogenic, low penetrance; other	PI S Alpha-1-antitrypsin deficiency Condition: not provided Alpha-1-antitrypsin deficiency Chronic obstructive pulmonary disease Cystic fibrosis not specified Inborn genetic diseases Susceptibility to severe coronavirus disease (COVID-19) SERPINA1-related disorder Sarcoma Gastric cancer Cholangiocarcinoma Hepatocellular carcinoma Colorectal cancer Malignant tumor of esophagus Autosomal recessive SERPINA1-related disorders Uterine corpus endometrial carcinoma Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA127679	rs_17580	37 SubmittersRCV000019569 RCV000148878 RCV000177031 RCV000762932 RCV000991136 RCV001195102 RCV002371777 RCV002466248 RCV003415722 RCV005887572 RCV005887573 RCV005887574 RCV005887568 RCV005887571 RCV005887569 RCV006554441 RCV005887575 RCV005887570
NM_000383.4(AIRE):c.652+14C>T	SNV Germline	Chr21:44288472	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1 not specified Condition: not provided Cholangiocarcinoma Uterine corpus endometrial carcinoma Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA213513	rs_41277546	7 SubmittersRCV000029315 RCV000595668 RCV000710496 RCV005888697 RCV005888699 RCV005888694 RCV005888695 RCV005888696 RCV005888698
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)	SNV Germline	Chr13:32332365	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Cholangiocarcinoma BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025860	rs_45457795	14 SubmittersRCV000031774 RCV000129101 RCV000168545 RCV000588297 RCV001086214 RCV005888837 RCV005364903
NM_001048174.2(MUTYH):c.850-2A>G	SNV Germline	Chr1:45332088	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Gastric cancer Carcinoma of colon MUTYH-related disorder Malignant tumor of esophagus Cervical cancer Melanoma Malignant tumor of urinary bladder Malignant lymphoma, large B-cell, diffuse Cholangiocarcinoma Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA011869	rs_77542170	20 SubmittersRCV000034683 RCV000122431 RCV000129053 RCV000212712 RCV001334797 RCV001357924 RCV004534727 RCV005888947 RCV005888948 RCV005888950 RCV005888945 RCV005888949 RCV005888951 RCV005888946
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	SNV Germline	Chr7:117559655	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Cystic fibrosis Condition: not provided Pancreatitis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Uterine corpus endometrial carcinoma Familial pancreatic carcinoma Colon adenocarcinoma Colorectal cancer Lymphoma Adrenocortical carcinoma, hereditary Cervical cancer Thymoma Thyroid cancer, nonmedullary, 1 Cholangiocarcinoma Malignant tumor of esophagus Nonpapillary renal cell carcinoma Gastric cancer Ovarian serous cystadenocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA132749	rs_1800095	23 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847 RCV005416110 RCV005889012 RCV005889003 RCV005888998 RCV005889004 RCV005889006 RCV005889001 RCV005889002 RCV005889008 RCV005889009 RCV005889010 RCV005888999 RCV005889000 RCV005889005 RCV005889007 RCV005889011
NM_000548.5(TSC2):c.5068+9G>A	SNV Germline	Chr16:2087950	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Condition: not provided Tuberous sclerosis 2 Uterine corpus endometrial carcinoma Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA021623	rs_45445593	11 SubmittersRCV000042702 RCV000177971 RCV000724754 RCV001079713 RCV005890311 RCV005890310
NM_001360.3(DHCR7):c.964-1G>C	SNV Germline	Chr11:71435840	Pathogenic/Likely pathogenic	Condition: not provided Smith-Lemli-Opitz syndrome Inborn genetic diseases DHCR7-related disorder See cases Thymoma Melanoma Familial cancer of breast Acute myeloid leukemia Malignant tumor of urinary bladder Malignant tumor of esophagus Nonpapillary renal cell carcinoma Thyroid cancer, nonmedullary, 1 Cholangiocarcinoma Cervical cancer Uveal melanoma Sarcoma Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA090917	rs_138659167	62 SubmittersRCV000079661 RCV000180570 RCV000623789 RCV003390775 RCV002251968 RCV005886297 RCV005886299 RCV005886288 RCV005886289 RCV005886290 RCV005886291 RCV005886292 RCV005886298 RCV005886300 RCV005886293 RCV005886294 RCV005886295 RCV005886296
NM_014141.6(CNTNAP2):c.551-11T>G	SNV Germline	Chr7:147108136	Conflicting classifications of pathogenicity	not specified Condition: not provided Cortical dysplasia-focal epilepsy syndrome Uterine corpus endometrial carcinoma Malignant tumor of esophagus Cervical cancer Cholangiocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA148629	rs_78223661	6 SubmittersRCV000081606 RCV001682781 RCV002055208 RCV005886561 RCV005886557 RCV005886558 RCV005886559 RCV005886560
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)	SNV Germline	Chr2:169493769	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone dystrophy Bardet-Biedl syndrome Uterine corpus endometrial carcinoma Colorectal cancer Familial cancer of breast Intellectual disability Retinal dystrophy Colon adenocarcinoma Sarcoma Lung cancer Gastric cancer Thyroid cancer, nonmedullary, 1 Melanoma Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA179794	rs_137853921	14 SubmittersRCV000087001 RCV000152843 RCV000504860 RCV001257073 RCV005887784 RCV005887777 RCV005887775 RCV005625287 RCV004815182 RCV005887776 RCV005887778 RCV005887783 RCV005887779 RCV005887780 RCV005887781 RCV005887782
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)	SNV Germline	Chr5:112843926	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of the liver Hepatocellular carcinoma Intrahepatic cholangiocarcinoma Condition: not provided APC-related disorder Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA014561	rs_587778046	12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131
NM_000492.4(CFTR):c.1210-11T>G	SNV Germline	Chr7:117548630	Pathogenic/Likely pathogenic; other	Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Condition: not provided Congenital bilateral aplasia of vas deferens from CFTR mutation Uterine corpus endometrial carcinoma Familial pancreatic carcinoma Malignant lymphoma, large B-cell, diffuse Sarcoma Malignant tumor of esophagus Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Hereditary pancreatitis Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation Lung cancer Cervical cancer Familial cancer of breast Cholangiocarcinoma Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA273555	rs_73715573	24 SubmittersRCV000155471 RCV000309488 RCV000381834 RCV001329936 RCV005888517 RCV005888512 RCV005888513 RCV005888514 RCV005888509 RCV005359333 RCV005431500 RCV005888516 RCV005888511 RCV005888508 RCV005888515 RCV005888510
NM_018451.5(CPAP):c.2992-18G>T	SNV Germline	Chr13:24892885	Conflicting classifications of pathogenicity	Condition: not provided Cholangiocarcinoma Uterine corpus endometrial carcinoma Ovarian serous cystadenocarcinoma Thymoma Cervical cancer	Criteria Provided Conflicting Classifications	CA233663	rs_67311635	4 SubmittersRCV000152965 RCV005888391 RCV005888392 RCV005888389 RCV005888390 RCV005888388
NM_001040716.2(PC):c.616G>T (p.Val206Leu)	SNV Germline	Chr11:66871069	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency Thyroid cancer, nonmedullary, 1 Clear cell carcinoma of kidney Cholangiocarcinoma Malignant tumor of urinary bladder Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA312918	rs_147945506	6 SubmittersRCV000676961 RCV001083901 RCV005892146 RCV005892145 RCV005892147 RCV005892143 RCV005892144
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)	SNV Germline	Chr9:133352719	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome not specified Inborn genetic diseases Cholangiocarcinoma Lung cancer Cervical cancer	Criteria Provided Conflicting Classifications	CA321229	rs_200702528	6 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263 RCV005893555 RCV005893556 RCV005893554
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	SNV Germline	Chr6:135457656	Conflicting classifications of pathogenicity	Joubert syndrome not specified Joubert syndrome 3 Condition: not provided Inborn genetic diseases AHI1-related disorder Cholangiocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA338680	rs_200201741	9 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849 RCV005893571 RCV005893572
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)	SNV Germline	Chr2:74369400	Conflicting classifications of pathogenicity	not specified Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome Amyotrophic lateral sclerosis Condition: not provided Thymoma Melanoma Cholangiocarcinoma Acute myeloid leukemia Colorectal cancer Ovarian serous cystadenocarcinoma Malignant tumor of esophagus Uterine corpus endometrial carcinoma Gastric cancer	Criteria Provided Conflicting Classifications	CA1722134	rs_17721059	13 SubmittersRCV000252177 RCV000267301 RCV000323911 RCV000547912 RCV001260195 RCV001706341 RCV005892690 RCV005892691 RCV005892692 RCV005892685 RCV005892687 RCV005892689 RCV005892686 RCV005892693 RCV005892688
NM_000359.3(TGM1):c.877-2A>G	SNV Germline	Chr14:24259813	Pathogenic	Condition: not provided Autosomal recessive congenital ichthyosis 1 Autosomal recessive congenital ichthyosis TGM1-related disorder Lamellar ichthyosis Cholangiocarcinoma Lung cancer Familial cancer of breast Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA7131245	rs_142634031	22 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207 RCV005895473 RCV005895474 RCV005895471 RCV005895472
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	SNV Germline	Chr10:89223752	Conflicting classifications of pathogenicity	Wolman disease not specified Lysosomal acid lipase deficiency Condition: not provided Cardiovascular phenotype LIPA-related disorder Colon adenocarcinoma Cholangiocarcinoma Melanoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA5593621	rs_147493628	11 SubmittersRCV000287212 RCV000478562 RCV000887810 RCV001705448 RCV002392837 RCV004544508 RCV005891912 RCV005891915 RCV005891914 RCV005891913
NM_000506.5(F2):c.813C>T (p.Gly271=)	SNV Germline	Chr11:46726112	Conflicting classifications of pathogenicity	Congenital prothrombin deficiency Thrombophilia due to thrombin defect F2-related disorder Cholangiocarcinoma Uterine corpus endometrial carcinoma Gastric cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA5967056	rs_5899	5 SubmittersRCV000883131 RCV005420120 RCV004555552 RCV005892977 RCV005892978 RCV005892976 RCV006441600
NM_182758.4(WDR72):c.3254-7T>G	SNV Germline	Chr15:53517761	Conflicting classifications of pathogenicity	Condition: not provided Thymoma Cholangiocarcinoma not specified	Criteria Provided Conflicting Classifications	CA7570596	rs_17630660	3 SubmittersRCV004693229 RCV005893397 RCV005893398 RCV006441773
NM_001166114.2(PNPLA6):c.714+6T>G	SNV Germline	Chr19:7540314	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 Condition: not provided Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA9139534	rs_368637145	4 SubmittersRCV000389421 RCV004725171 RCV005894884
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	SNV Germline/somatic	Chr2:208248389	Pathogenic	Condition: not provided Neoplasm Cholangiocarcinoma Acute myeloid leukemia Hepatocellular carcinoma Medulloblastoma SHH activated	Criteria Provided Single Submitter	CA16602376	rs_121913499	4 SubmittersRCV003884519 RCV005230284 RCV005900721 RCV005900719 RCV005900720 RCV006253952
NM_000368.5(TSC1):c.2626-3C>T	SNV Germline	Chr9:132897613	Conflicting classifications of pathogenicity	Tuberous sclerosis 1 Condition: not provided Hereditary cancer-predisposing syndrome TSC1-related disorder Tuberous sclerosis syndrome Acute myeloid leukemia Cholangiocarcinoma Familial cancer of breast	Criteria Provided Conflicting Classifications	CA16612736	rs_1060503192	11 SubmittersRCV000460170 RCV001703175 RCV002429538 RCV003912811 RCV005401450 RCV005899501 RCV005899502 RCV005899500
NM_012106.4(ARL2BP):c.207+1G>A	SNV Germline	Chr16:57248644	Pathogenic	Retinal dystrophy Condition: not provided ARL2BP-related disorder Retinitis pigmentosa with or without situs inversus Cholangiocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA8074878	rs_199830550	6 SubmittersRCV000504888 RCV001857201 RCV003392337 RCV004698499 RCV005900919
NM_000535.7(PMS2):c.706-3C>T	SNV Germline	Chr7:5997426	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 Lynch syndrome not specified Thymoma Cholangiocarcinoma Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA572548192	rs_1229860023	7 SubmittersRCV000584358 RCV000630290 RCV000987845 RCV004002368 RCV004596296 RCV005898579 RCV005898580 RCV005898578
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)	SNV Germline	Chr15:72731384	Likely pathogenic	Bardet-Biedl syndrome 4 Cholangiocarcinoma Malignant tumor of esophagus Ovarian serous cystadenocarcinoma	No Assertion Criteria Provided	CA7646770	rs_200113494	2 SubmittersRCV000985187 RCV005912120 RCV005912118 RCV005912119
NM_005199.5(CHRNG):c.507-12G>A	SNV Germline	Chr2:232542411	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Condition: not provided Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA2168709	rs_184423691	5 SubmittersRCV001141514 RCV001143343 RCV001354957 RCV005913857
NM_001364905.1(LRBA):c.6448+17A>G	SNV Germline	Chr4:150490901	Conflicting classifications of pathogenicity	Combined immunodeficiency due to LRBA deficiency Ovarian serous cystadenocarcinoma Cholangiocarcinoma Cervical cancer	Criteria Provided Conflicting Classifications	CA3101939	rs_183652080	3 SubmittersRCV001284819 RCV005910842 RCV005910843 RCV005910841
NM_181523.3(PIK3R1):c.1426-20T>G	SNV Germline	Chr5:68294516	Conflicting classifications of pathogenicity	Immunodeficiency 36 with lymphoproliferation SHORT syndrome Agammaglobulinemia 7, autosomal recessive Condition: not provided Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA3290408	rs_201254436	3 SubmittersRCV002074053 RCV003237667 RCV005922408
NM_000268.4(NF2):c.999+2T>G	SNV Germline	Chr22:29668448	Pathogenic	Neurofibromatosis, type 2 Cholangiocarcinoma	Criteria Provided Single Submitter	CA411146233	rs_2147053345	2 SubmittersRCV001889215 RCV005924025
NM_153704.6(TMEM67):c.224-2A>T	SNV Germline	Chr8:93755776	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Cholangiocarcinoma Uterine corpus endometrial carcinoma Malignant tumor of esophagus Lung cancer Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA4807558	rs_768412278	3 SubmittersRCV002254123 RCV003774755 RCV005930085 RCV005930087 RCV005930084 RCV005930086 RCV005930083
NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)	SNV Germline	Chr1:154988235	Conflicting classifications of pathogenicity	Condition: not provided Cholangiocarcinoma Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA1134341	rs_150372864	4 SubmittersRCV002276273 RCV005930217 RCV005930216
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)	SNV Germline	Chr14:61740839	Conflicting classifications of pathogenicity	Cholangiocarcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA7216005	rs_11549465	3 SubmittersRCV003312797 RCV003481485
NM_001382567.1(STIM1):c.140-5C>T	SNV Germline	Chr11:3967547	Conflicting classifications of pathogenicity	Combined immunodeficiency due to STIM1 deficiency Stormorken syndrome Myopathy with tubular aggregates Condition: not provided Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA216282937	rs_200528985	3 SubmittersRCV003790473 RCV004723480 RCV005934910
NM_000368.5(TSC1):c.2626-2A>T	SNV Germline	Chr9:132897612	Pathogenic	Tuberous sclerosis syndrome Cholangiocarcinoma Uterine corpus endometrial carcinoma Familial cancer of breast	Criteria Provided Single Submitter	CA375369736	rs_118203717	2 SubmittersRCV004018339 RCV005937414 RCV005937415 RCV005937413
NM_000268.4(NF2):c.675+1G>T	SNV Germline	Chr22:29658265	Pathogenic	Cholangiocarcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA411143138	rs_1555994854	2 SubmittersRCV005939437 RCV004523219
NM_005502.4(ABCA1):c.5383-2A>T	SNV Germline	Chr9:104794512	Likely pathogenic	Hypoalphalipoproteinemia, primary, 1 Tangier disease Uterine carcinosarcoma Cholangiocarcinoma Familial cancer of breast	Criteria Provided Single Submitter			2 SubmittersRCV005396345 RCV005939995 RCV005939996 RCV005939994
NM_000135.4(FANCA):c.893+1G>A	SNV Germline	Chr16:89799165	Likely pathogenic	Fanconi anemia complementation group A Cholangiocarcinoma	Criteria Provided Single Submitter			2 SubmittersRCV005629793 RCV005934611

NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)

SNV
Germline

Chr10:97749494

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 33
not specified
Spastic tetraparesis
Spastic paraplegia
Condition: not provided
Uveal melanoma
Colon adenocarcinoma
Colorectal cancer
Sarcoma
Uterine corpus endometrial carcinoma
Gastric cancer
Uterine carcinosarcoma
Malignant tumor of esophagus
Lung cancer
Ovarian serous cystadenocarcinoma
Thymoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Cervical cancer
Thyroid cancer, nonmedullary, 1
Melanoma
Cholangiocarcinoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA114909

rs_35077384

12 SubmittersRCV000001352 RCV000407569 RCV000415084 RCV000471962 RCV001723530 RCV005887172 RCV005887166 RCV005887173 RCV005887174 RCV005887183 RCV005887175 RCV005887177 RCV005887169 RCV005887182 RCV005887176 RCV005887178 RCV005887168 RCV005887170 RCV005887171 RCV005887179 RCV005887180 RCV005887181 RCV005887167

NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)

SNV
Germline

Chr16:3249468

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Inborn genetic diseases
Autoinflammatory syndrome
Cholangiocarcinoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Lung cancer
Colorectal cancer
Uterine carcinosarcoma
Cervical cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA280116

rs_11466024

22 SubmittersRCV000002661 RCV000218029 RCV000224408 RCV002362552 RCV002262551 RCV005887220 RCV005887214 RCV005887215 RCV005887221 RCV005887217 RCV005887219 RCV005887216 RCV005887218

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

SNV
Germline

Chr14:94380925

Pathogenic/Pathogenic, low penetrance; other

PI S
Alpha-1-antitrypsin deficiency
Condition: not provided
Alpha-1-antitrypsin deficiency
Chronic obstructive pulmonary disease
Cystic fibrosis
not specified
Inborn genetic diseases
Susceptibility to severe coronavirus disease (COVID-19)
SERPINA1-related disorder
Sarcoma
Gastric cancer
Cholangiocarcinoma
Hepatocellular carcinoma
Colorectal cancer
Malignant tumor of esophagus
Autosomal recessive SERPINA1-related disorders
Uterine corpus endometrial carcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA127679

rs_17580

37 SubmittersRCV000019569 RCV000148878 RCV000177031 RCV000762932 RCV000991136 RCV001195102 RCV002371777 RCV002466248 RCV003415722 RCV005887572 RCV005887573 RCV005887574 RCV005887568 RCV005887571 RCV005887569 RCV006554441 RCV005887575 RCV005887570

NM_000383.4(AIRE):c.652+14C>T

SNV
Germline

Chr21:44288472

Conflicting classifications of pathogenicity

Polyglandular autoimmune syndrome, type 1
not specified
Condition: not provided
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA213513

rs_41277546

7 SubmittersRCV000029315 RCV000595668 RCV000710496 RCV005888697 RCV005888699 RCV005888694 RCV005888695 RCV005888696 RCV005888698

NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)

SNV
Germline

Chr13:32332365

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Cholangiocarcinoma
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025860

rs_45457795

14 SubmittersRCV000031774 RCV000129101 RCV000168545 RCV000588297 RCV001086214 RCV005888837 RCV005364903

NM_001048174.2(MUTYH):c.850-2A>G

SNV
Germline

Chr1:45332088

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Carcinoma of colon
MUTYH-related disorder
Malignant tumor of esophagus
Cervical cancer
Melanoma
Malignant tumor of urinary bladder
Malignant lymphoma, large B-cell, diffuse
Cholangiocarcinoma
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA011869

rs_77542170

20 SubmittersRCV000034683 RCV000122431 RCV000129053 RCV000212712 RCV001334797 RCV001357924 RCV004534727 RCV005888947 RCV005888948 RCV005888950 RCV005888945 RCV005888949 RCV005888951 RCV005888946

NM_000492.4(CFTR):c.1584G>A (p.Glu528=)

SNV
Germline

Chr7:117559655

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Cystic fibrosis
Condition: not provided
Pancreatitis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Uterine corpus endometrial carcinoma
Familial pancreatic carcinoma
Colon adenocarcinoma
Colorectal cancer
Lymphoma
Adrenocortical carcinoma, hereditary
Cervical cancer
Thymoma
Thyroid cancer, nonmedullary, 1
Cholangiocarcinoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA132749

rs_1800095

23 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847 RCV005416110 RCV005889012 RCV005889003 RCV005888998 RCV005889004 RCV005889006 RCV005889001 RCV005889002 RCV005889008 RCV005889009 RCV005889010 RCV005888999 RCV005889000 RCV005889005 RCV005889007 RCV005889011

NM_000548.5(TSC2):c.5068+9G>A

SNV
Germline

Chr16:2087950

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Uterine corpus endometrial carcinoma
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA021623

rs_45445593

11 SubmittersRCV000042702 RCV000177971 RCV000724754 RCV001079713 RCV005890311 RCV005890310

NM_001360.3(DHCR7):c.964-1G>C

SNV
Germline

Chr11:71435840

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
See cases
Thymoma
Melanoma
Familial cancer of breast
Acute myeloid leukemia
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1
Cholangiocarcinoma
Cervical cancer
Uveal melanoma
Sarcoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA090917

rs_138659167

62 SubmittersRCV000079661 RCV000180570 RCV000623789 RCV003390775 RCV002251968 RCV005886297 RCV005886299 RCV005886288 RCV005886289 RCV005886290 RCV005886291 RCV005886292 RCV005886298 RCV005886300 RCV005886293 RCV005886294 RCV005886295 RCV005886296

NM_014141.6(CNTNAP2):c.551-11T>G

SNV
Germline

Chr7:147108136

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cortical dysplasia-focal epilepsy syndrome
Uterine corpus endometrial carcinoma
Malignant tumor of esophagus
Cervical cancer
Cholangiocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA148629

rs_78223661

6 SubmittersRCV000081606 RCV001682781 RCV002055208 RCV005886561 RCV005886557 RCV005886558 RCV005886559 RCV005886560

NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)

SNV
Germline

Chr2:169493769

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone dystrophy
Bardet-Biedl syndrome
Uterine corpus endometrial carcinoma
Colorectal cancer
Familial cancer of breast
Intellectual disability
Retinal dystrophy
Colon adenocarcinoma
Sarcoma
Lung cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Melanoma
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA179794

rs_137853921

14 SubmittersRCV000087001 RCV000152843 RCV000504860 RCV001257073 RCV005887784 RCV005887777 RCV005887775 RCV005625287 RCV004815182 RCV005887776 RCV005887778 RCV005887783 RCV005887779 RCV005887780 RCV005887781 RCV005887782

NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)

SNV
Germline

Chr5:112843926

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of the liver
Hepatocellular carcinoma
Intrahepatic cholangiocarcinoma
Condition: not provided
APC-related disorder
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA014561

rs_587778046

12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131

NM_000492.4(CFTR):c.1210-11T>G

SNV
Germline

Chr7:117548630

Pathogenic/Likely pathogenic; other

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Uterine corpus endometrial carcinoma
Familial pancreatic carcinoma
Malignant lymphoma, large B-cell, diffuse
Sarcoma
Malignant tumor of esophagus
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Lung cancer
Cervical cancer
Familial cancer of breast
Cholangiocarcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA273555

rs_73715573

24 SubmittersRCV000155471 RCV000309488 RCV000381834 RCV001329936 RCV005888517 RCV005888512 RCV005888513 RCV005888514 RCV005888509 RCV005359333 RCV005431500 RCV005888516 RCV005888511 RCV005888508 RCV005888515 RCV005888510

NM_018451.5(CPAP):c.2992-18G>T

SNV
Germline

Chr13:24892885

Conflicting classifications of pathogenicity

Condition: not provided
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thymoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA233663

rs_67311635

4 SubmittersRCV000152965 RCV005888391 RCV005888392 RCV005888389 RCV005888390 RCV005888388

NM_001040716.2(PC):c.616G>T (p.Val206Leu)

SNV
Germline

Chr11:66871069

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
Thyroid cancer, nonmedullary, 1
Clear cell carcinoma of kidney
Cholangiocarcinoma
Malignant tumor of urinary bladder
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA312918

rs_147945506

6 SubmittersRCV000676961 RCV001083901 RCV005892146 RCV005892145 RCV005892147 RCV005892143 RCV005892144

NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)

SNV
Germline

Chr9:133352719

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
not specified
Inborn genetic diseases
Cholangiocarcinoma
Lung cancer
Cervical cancer

Criteria Provided
Conflicting Classifications

CA321229

rs_200702528

6 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263 RCV005893555 RCV005893556 RCV005893554

NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)

SNV
Germline

Chr6:135457656

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases
AHI1-related disorder
Cholangiocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA338680

rs_200201741

9 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849 RCV005893571 RCV005893572

NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)

SNV
Germline

Chr2:74369400

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Perry syndrome
Amyotrophic lateral sclerosis
Condition: not provided
Thymoma
Melanoma
Cholangiocarcinoma
Acute myeloid leukemia
Colorectal cancer
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Uterine corpus endometrial carcinoma
Gastric cancer

Criteria Provided
Conflicting Classifications

CA1722134

rs_17721059

13 SubmittersRCV000252177 RCV000267301 RCV000323911 RCV000547912 RCV001260195 RCV001706341 RCV005892690 RCV005892691 RCV005892692 RCV005892685 RCV005892687 RCV005892689 RCV005892686 RCV005892693 RCV005892688

NM_000359.3(TGM1):c.877-2A>G

SNV
Germline

Chr14:24259813

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Autosomal recessive congenital ichthyosis
TGM1-related disorder
Lamellar ichthyosis
Cholangiocarcinoma
Lung cancer
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7131245

rs_142634031

22 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207 RCV005895473 RCV005895474 RCV005895471 RCV005895472

NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)

SNV
Germline

Chr10:89223752

Conflicting classifications of pathogenicity

Wolman disease
not specified
Lysosomal acid lipase deficiency
Condition: not provided
Cardiovascular phenotype
LIPA-related disorder
Colon adenocarcinoma
Cholangiocarcinoma
Melanoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA5593621

rs_147493628

11 SubmittersRCV000287212 RCV000478562 RCV000887810 RCV001705448 RCV002392837 RCV004544508 RCV005891912 RCV005891915 RCV005891914 RCV005891913

NM_000506.5(F2):c.813C>T (p.Gly271=)

SNV
Germline

Chr11:46726112

Conflicting classifications of pathogenicity

Congenital prothrombin deficiency
Thrombophilia due to thrombin defect
F2-related disorder
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Gastric cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5967056

rs_5899

5 SubmittersRCV000883131 RCV005420120 RCV004555552 RCV005892977 RCV005892978 RCV005892976 RCV006441600

NM_182758.4(WDR72):c.3254-7T>G

SNV
Germline

Chr15:53517761

Conflicting classifications of pathogenicity

Condition: not provided
Thymoma
Cholangiocarcinoma
not specified

Criteria Provided
Conflicting Classifications

CA7570596

rs_17630660

3 SubmittersRCV004693229 RCV005893397 RCV005893398 RCV006441773

NM_001166114.2(PNPLA6):c.714+6T>G

SNV
Germline

Chr19:7540314

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA9139534

rs_368637145

4 SubmittersRCV000389421 RCV004725171 RCV005894884

NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)

SNV
Germline/somatic

Chr2:208248389

Pathogenic

Condition: not provided
Neoplasm
Cholangiocarcinoma
Acute myeloid leukemia
Hepatocellular carcinoma
Medulloblastoma SHH activated

Criteria Provided
Single Submitter

CA16602376

rs_121913499

4 SubmittersRCV003884519 RCV005230284 RCV005900721 RCV005900719 RCV005900720 RCV006253952

NM_000368.5(TSC1):c.2626-3C>T

SNV
Germline

Chr9:132897613

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Acute myeloid leukemia
Cholangiocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16612736

rs_1060503192

11 SubmittersRCV000460170 RCV001703175 RCV002429538 RCV003912811 RCV005401450 RCV005899501 RCV005899502 RCV005899500

NM_012106.4(ARL2BP):c.207+1G>A

SNV
Germline

Chr16:57248644

Pathogenic

Retinal dystrophy
Condition: not provided
ARL2BP-related disorder
Retinitis pigmentosa with or without situs inversus
Cholangiocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA8074878

rs_199830550

6 SubmittersRCV000504888 RCV001857201 RCV003392337 RCV004698499 RCV005900919

NM_000535.7(PMS2):c.706-3C>T

SNV
Germline

Chr7:5997426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
not specified
Thymoma
Cholangiocarcinoma
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA572548192

rs_1229860023

7 SubmittersRCV000584358 RCV000630290 RCV000987845 RCV004002368 RCV004596296 RCV005898579 RCV005898580 RCV005898578

NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)

SNV
Germline

Chr15:72731384

Likely pathogenic

Bardet-Biedl syndrome 4
Cholangiocarcinoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma

No Assertion Criteria Provided

CA7646770

rs_200113494

2 SubmittersRCV000985187 RCV005912120 RCV005912118 RCV005912119

NM_005199.5(CHRNG):c.507-12G>A

SNV
Germline

Chr2:232542411

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA2168709

rs_184423691

5 SubmittersRCV001141514 RCV001143343 RCV001354957 RCV005913857

NM_001364905.1(LRBA):c.6448+17A>G

SNV
Germline

Chr4:150490901

Conflicting classifications of pathogenicity

Combined immunodeficiency due to LRBA deficiency
Ovarian serous cystadenocarcinoma
Cholangiocarcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA3101939

rs_183652080

3 SubmittersRCV001284819 RCV005910842 RCV005910843 RCV005910841

NM_181523.3(PIK3R1):c.1426-20T>G

SNV
Germline

Chr5:68294516

Conflicting classifications of pathogenicity

Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Agammaglobulinemia 7, autosomal recessive
Condition: not provided
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA3290408

rs_201254436

3 SubmittersRCV002074053 RCV003237667 RCV005922408

NM_000268.4(NF2):c.999+2T>G

SNV
Germline

Chr22:29668448

Pathogenic

Neurofibromatosis, type 2
Cholangiocarcinoma

Criteria Provided
Single Submitter

CA411146233

rs_2147053345

2 SubmittersRCV001889215 RCV005924025

NM_153704.6(TMEM67):c.224-2A>T

SNV
Germline

Chr8:93755776

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Malignant tumor of esophagus
Lung cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA4807558

rs_768412278

3 SubmittersRCV002254123 RCV003774755 RCV005930085 RCV005930087 RCV005930084 RCV005930086 RCV005930083

NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)

SNV
Germline

Chr1:154988235

Conflicting classifications of pathogenicity

Condition: not provided
Cholangiocarcinoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1134341

rs_150372864