Total 31 pathogenic variants reported for Uveal melanoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000404.4(GLB1):c.1480-2A>G	SNV Germline	Chr3:33014312	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis GM1 gangliosidosis Condition: not provided Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Uveal melanoma	Criteria Provided Multiple Submitters No Conflicts	CA114668	rs_587776526	8 SubmittersRCV000000996 RCV000790562 RCV001049270 RCV001251276 RCV002243610 RCV002470702 RCV002496221 RCV005887149
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_002863.5(PYGL):c.1768+1G>A	SNV Germline	Chr14:50912155	Pathogenic	Glycogen storage disease, type VI Condition: not provided Uterine corpus endometrial carcinoma Uveal melanoma	Criteria Provided Multiple Submitters No Conflicts	CA341169	rs_113993982	9 SubmittersRCV000012772 RCV005641496 RCV005887470 RCV005887469
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	SNV Germline	Chr13:100368479	Conflicting classifications of pathogenicity	Propionic acidemia not specified Condition: not provided Thyroid cancer, nonmedullary, 1 Melanoma Hepatocellular carcinoma Malignant tumor of esophagus Ovarian serous cystadenocarcinoma Thymoma Nonpapillary renal cell carcinoma Lung cancer Clear cell carcinoma of kidney Uveal melanoma Colorectal cancer Gastric cancer Uterine carcinosarcoma Adrenocortical carcinoma, hereditary Cervical cancer	Criteria Provided Conflicting Classifications	CA292687	rs_61749895	11 SubmittersRCV000032108 RCV000127322 RCV002262596 RCV005888856 RCV005888857 RCV005888844 RCV005888845 RCV005888853 RCV005888855 RCV005888846 RCV005888858 RCV005888849 RCV005888850 RCV005888851 RCV005888852 RCV005888854 RCV005888847 RCV005888848
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Spastic paraparesis Dysarthria Gait ataxia Cerebral cortical atrophy Hereditary spastic paraplegia Optic nerve hypoplasia Inborn genetic diseases Intellectual disability Spastic ataxia Sensorimotor neuropathy Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 SPG7-related disorder Retinal dystrophy Ovarian serous cystadenocarcinoma Thymoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Uveal melanoma Gastric cancer Lung cancer Familial cancer of breast Hereditary ataxia Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Sarcoma Hepatocellular carcinoma Cervical cancer Optic neuropathy	Criteria Provided Conflicting Classifications	CA090884	rs_61755320	72 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000626837 RCV000515835 RCV000677252 RCV000623796 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV005624722 RCV005888966 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135
NM_000784.4(CYP27A1):c.1184+1G>A	SNV Germline	Chr2:218814188	Pathogenic	Cholestanol storage disease Condition: not provided Cardiovascular phenotype CYP27A1-related disorder Uveal melanoma	Criteria Provided Multiple Submitters No Conflicts	CA345161	rs_587778777	25 SubmittersRCV000056073 RCV000255284 RCV004018984 RCV004748547 RCV005890389
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_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)	SNV Germline	Chr2:178577602	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided 6 conditions Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Uveal melanoma Ovarian serous cystadenocarcinoma Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA223957	rs_199506676	14 SubmittersRCV000082422 RCV000243614 RCV000209613 RCV000461211 RCV000725504 RCV000765553 RCV001131150 RCV001131151 RCV001134109 RCV001131152 RCV001131153 RCV003486642 RCV005887650 RCV005887651 RCV005887649
NM_001377299.1(NDUFS2):c.1354+5G>A	SNV Germline	Chr1:161213926	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided NDUFS2-related disorder Optic atrophy Colorectal cancer Gastric cancer Ovarian serous cystadenocarcinoma Thyroid cancer, nonmedullary, 1 Familial cancer of breast Uveal melanoma Melanoma	Criteria Provided Conflicting Classifications	CA292498	rs_190184430	8 SubmittersRCV000127152 RCV000275644 RCV001303885 RCV003965059 RCV004815196 RCV005886717 RCV005886718 RCV005886719 RCV005886720 RCV005886715 RCV005886716 RCV005886721
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	SNV Germline	Chr11:108332789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome Uveal melanoma	Criteria Provided Conflicting Classifications	CA196681	rs_376824528	16 SubmittersRCV000166765 RCV000197716 RCV000513206 RCV000625763 RCV002265647 RCV002485035 RCV005889632
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)	SNV Germline	Chr10:49472376	Conflicting classifications of pathogenicity	Condition: not provided ERCC6-related disorder Clear cell carcinoma of kidney Uveal melanoma Colon adenocarcinoma Melanoma Malignant tumor of esophagus Familial cancer of breast Ovarian serous cystadenocarcinoma Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA240638	rs_145720191	10 SubmittersRCV000174989 RCV004537372 RCV005889797 RCV005889798 RCV005889794 RCV005889800 RCV005889796 RCV005889793 RCV005889799 RCV005889795
NM_001384732.1(CPLANE1):c.8958+4A>C	SNV Germline	Chr5:37125240	Conflicting classifications of pathogenicity	not specified Joubert syndrome 17 Condition: not provided Clear cell carcinoma of kidney Melanoma Malignant tumor of esophagus CPLANE1-related disorder Colon adenocarcinoma Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Intellectual disability Nonpapillary renal cell carcinoma Cervical cancer Familial cancer of breast Uveal melanoma Thymoma Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA245783	rs_199810663	11 SubmittersRCV000247706 RCV000321409 RCV000428354 RCV005891973 RCV005891979 RCV005891970 RCV003891741 RCV005891968 RCV005891975 RCV005891976 RCV005891977 RCV005621904 RCV005891971 RCV005891972 RCV005891967 RCV005891974 RCV005891978 RCV005891969
NM_003072.5(SMARCA4):c.2275-3C>A	SNV Germline	Chr19:11012946	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome Condition: not provided Hereditary cancer-predisposing syndrome Rhabdoid tumor predisposition syndrome 2 Intellectual disability, autosomal dominant 16 Uveal melanoma Malignant tumor of esophagus Cervical cancer Clear cell carcinoma of kidney Colon adenocarcinoma Melanoma Lung cancer Sarcoma Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Thymoma	Criteria Provided Conflicting Classifications	CA207855	rs_117611401	21 SubmittersRCV000193996 RCV000345652 RCV000436144 RCV000564444 RCV000990148 RCV001808538 RCV005892379 RCV005892376 RCV005892377 RCV005892378 RCV005892375 RCV005892384 RCV005892385 RCV005892380 RCV005892381 RCV005892382 RCV005892383
NM_002892.4(ARID4A):c.3211+1G>A	SNV Germline	Chr14:58365301	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer Gastric cancer Acute myeloid leukemia Malignant tumor of esophagus Lymphoma Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Thymoma Thyroid cancer, nonmedullary, 1 Colon adenocarcinoma Sarcoma Melanoma Hepatocellular carcinoma Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Uveal melanoma Nonpapillary renal cell carcinoma Lung cancer Cervical cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA7204782	rs_62621193	3 SubmittersRCV000377555 RCV005895508 RCV005895510 RCV005895501 RCV005895503 RCV005895511 RCV005895512 RCV005895513 RCV005895514 RCV005895515 RCV005895500 RCV005895509 RCV005895516 RCV005895502 RCV005895518 RCV005895506 RCV005895507 RCV005895504 RCV005895517 RCV005895505 RCV005895499
NM_000466.3(PEX1):c.2927-12T>A	SNV Germline	Chr7:92494408	Conflicting classifications of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger) Uveal melanoma Zellweger spectrum disorders	Criteria Provided Conflicting Classifications	CA4340962	rs_375062546	3 SubmittersRCV000396793 RCV005899271 RCV002058679
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	SNV Germline	Chr22:26465507	Conflicting classifications of pathogenicity	not specified Hermansky-Pudlak syndrome 4 Oculocutaneous albinism Condition: not provided Uveal melanoma Colorectal cancer Thyroid cancer, nonmedullary, 1 Hepatocellular carcinoma Adrenocortical carcinoma, hereditary Lung cancer Cervical cancer Clear cell carcinoma of kidney Malignant lymphoma, large B-cell, diffuse Melanoma Malignant tumor of esophagus Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Thymoma	Criteria Provided Conflicting Classifications	CA10163504	rs_34962745	7 SubmittersRCV000614234 RCV000856673 RCV000767301 RCV000950297 RCV005897534 RCV005897536 RCV005897541 RCV005897529 RCV005897531 RCV005897543 RCV005897532 RCV005897533 RCV005897535 RCV005897542 RCV005897530 RCV005897537 RCV005897538 RCV005897539 RCV005897540
NM_001256545.2(MEGF10):c.2857-8T>G	SNV Germline	Chr5:127449091	Conflicting classifications of pathogenicity	MEGF10-related myopathy Condition: not provided Uveal melanoma	Criteria Provided Conflicting Classifications	CA3392059	rs_201148765	4 SubmittersRCV000546776 RCV001720176 RCV005896654
NM_001625.4(AK2):c.219+19A>G	SNV Germline	Chr1:33024423	Conflicting classifications of pathogenicity	Condition: not provided Reticular dysgenesis Familial cancer of breast Acute myeloid leukemia Cervical cancer Ovarian serous cystadenocarcinoma Lung cancer not specified Uveal melanoma Gastric cancer	Criteria Provided Conflicting Classifications	CA747227	rs_148975919	4 SubmittersRCV000483208 RCV001520137 RCV005899621 RCV005899622 RCV005899623 RCV005899626 RCV005899627 RCV006458393 RCV005899624 RCV005899625
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)	SNV Germline	Chr14:91305920	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Clear cell carcinoma of kidney Colorectal cancer Lung cancer Cervical cancer Familial cancer of breast Uveal melanoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA7309413	rs_201044013	9 SubmittersRCV000501265 RCV000951314 RCV002527213 RCV005899842 RCV005899844 RCV005899846 RCV005899841 RCV005899840 RCV005899843 RCV005899845
NM_001322934.2(NFKB2):c.2072-3C>T	SNV Germline	Chr10:102401177	Conflicting classifications of pathogenicity	Immunodeficiency, common variable, 10 NFKB2-related disorder Condition: not provided not specified Colon adenocarcinoma Uterine carcinosarcoma Cervical cancer Familial cancer of breast Sarcoma Malignant tumor of esophagus Uveal melanoma	Criteria Provided Conflicting Classifications	CA5664988	rs_201550645	7 SubmittersRCV000550910 RCV003925698 RCV003424142 RCV005646965 RCV005897056 RCV005897061 RCV005897058 RCV005897055 RCV005897060 RCV005897057 RCV005897059
NM_001354604.2(MITF):c.881-7T>A	SNV Germline	Chr3:69951805	Conflicting classifications of pathogenicity	not specified Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Uveal melanoma	Criteria Provided Conflicting Classifications	CA2490505	rs_200580325	7 SubmittersRCV000578647 RCV000767195 RCV002060547 RCV005601015 RCV005898551
NM_000275.3(OCA2):c.574-19A>G	SNV Germline	Chr15:28022592	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism OCA2-related disorder Uveal melanoma Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA7439421	rs_145242923	7 SubmittersRCV000612309 RCV000729766 RCV001797759 RCV003905571 RCV005898767 RCV005898768
NM_015175.3(NBEAL2):c.3384+5G>A	SNV Germline	Chr3:46998884	Conflicting classifications of pathogenicity	Condition: not provided Gray platelet syndrome NBEAL2-related disorder Colon adenocarcinoma Ovarian serous cystadenocarcinoma Uveal melanoma Sarcoma Acute myeloid leukemia Malignant tumor of esophagus Ovarian cancer	Criteria Provided Conflicting Classifications	CA2360929	rs_370559049	5 SubmittersRCV000953196 RCV001144585 RCV003413755 RCV005906821 RCV005906827 RCV005906825 RCV005906826 RCV005906822 RCV005906823 RCV005906824
NM_000155.4(GALT):c.378-12G>A	SNV Germline	Chr9:34647820	Conflicting classifications of pathogenicity	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gastric cancer Acute myeloid leukemia Uveal melanoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA5036113	rs_151309174	3 SubmittersRCV001167408 RCV005908864 RCV005908862 RCV005908863 RCV005908865
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)	SNV Germline	Chr8:67112065	Pathogenic	Joubert syndrome 21 Inborn genetic diseases Uveal melanoma	Criteria Provided Multiple Submitters No Conflicts	CA4770471	rs_760205035	3 SubmittersRCV001221087 RCV005540318 RCV005909048
NM_052989.3(IFT122):c.986C>T (p.Ala329Val)	SNV Germline	Chr3:129476484	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Uveal melanoma Condition: not provided	Criteria Provided Conflicting Classifications	CA2606035	rs_200915373	4 SubmittersRCV002048099 RCV005925604 RCV004694129
NM_177924.5(ASAH1):c.217-2A>G	SNV Germline	Chr8:18069880	Likely pathogenic	Condition: not provided Uveal melanoma	Criteria Provided Single Submitter	CA4650959	rs_771628836	2 SubmittersRCV002007056 RCV005925599
NM_024809.5(TCTN2):c.267+1G>A	SNV Germline	Chr12:123672133	Likely pathogenic	Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 8 Joubert syndrome 24 Uveal melanoma	Criteria Provided Multiple Submitters No Conflicts	CA6860835	rs_141752910	3 SubmittersRCV002015985 RCV005008392 RCV005925567
NM_004656.4(BAP1):c.932-151G>A	SNV Germline	Chr3:52405445	Conflicting classifications of pathogenicity	Uveal melanoma BAP1-related tumor predisposition syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA913187447	rs_1705120040	3 SubmittersRCV002272729 RCV003464427 RCV005520702
NM_019109.5(ALG1):c.1A>G (p.Met1Val)	SNV Germline	Chr16:5071850	Likely pathogenic	ALG1-congenital disorder of glycosylation Uveal melanoma	Criteria Provided Single Submitter			2 SubmittersRCV005015525 RCV005937620