Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000275.3(OCA2):c.1842+1G>T	SNV Germline	Chr15:27955157	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA251632	rs_387906240	6 SubmittersRCV000001004 RCV001851521 RCV003323345 RCV004566666
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	SNV Germline	Chr15:27983407	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism not specified Condition: not provided OCA2-related disorder Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA251633	rs_74653330	16 SubmittersRCV000001005 RCV000251919 RCV000487934 RCV003891424 RCV006275851
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	SNV Germline	Chr15:27985101	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided Inborn genetic diseases Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES See cases Albinism or congenital nystagmus OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA251634	rs_121918166	42 SubmittersRCV000001006 RCV000310636 RCV000623104 RCV000477815 RCV002251850 RCV004584136 RCV003415611 RCV003466772
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	SNV Germline	Chr15:27871170	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Nonsyndromic Oculocutaneous Albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA251635	rs_121918167	16 SubmittersRCV000001007 RCV000481371 RCV000762938 RCV000755092 RCV003460401 RCV005406715
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)	SNV Germline	Chr15:28014819	Pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA251637	rs_121918168	7 SubmittersRCV000001009 RCV001851522 RCV003466773 RCV006261716
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	SNV Germline	Chr15:27926169	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA251639	rs_121918169	12 SubmittersRCV000001011 RCV001262139 RCV001093225 RCV003317027 RCV005007802
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	SNV Germline	Chr15:27983383	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA251640	rs_121918170	19 SubmittersRCV000001012 RCV000413429 RCV000762940 RCV003421891 RCV003466774 RCV003492280
NM_002386.4(MC1R):c.880G>C (p.Asp294His)	SNV Germline	Chr16:89920138	Conflicting classifications of pathogenicity; risk factor	Skin/hair/eye pigmentation 2, red hair/fair skin Condition: not provided Tyrosinase-positive oculocutaneous albinism Skin and Hair Hypopigmentation Melanoma, cutaneous malignant, susceptibility to, 5 Melanoma MC1R-related disorder	Criteria Provided Conflicting Classifications	CA123861	rs_1805009	12 SubmittersRCV000015377 RCV000347221 RCV000662303 RCV000851264 RCV001080639 RCV001195217 RCV003891437
NM_000275.3(OCA2):c.1045-9T>G	SNV Germline	Chr15:27990656	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism not specified SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA239105	rs_755604671	6 SubmittersRCV000173665 RCV003128232 RCV003150966 RCV003468853
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	SNV Germline	Chr15:27990589	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism Inborn genetic diseases SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism Albinism or congenital nystagmus	Criteria Provided Conflicting Classifications	CA239106	rs_61745150	16 SubmittersRCV000442309 RCV000709815 RCV002516597 RCV003462273 RCV005003526 RCV005406888 RCV005646771
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)	SNV Germline	Chr15:27986643	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA239739	rs_757286784	7 SubmittersRCV000174230 RCV000502815 RCV005003527
NM_000275.3(OCA2):c.1239+5G>C	SNV Germline	Chr15:27986582	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism not specified SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Inborn genetic diseases Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA239740	rs_757119713	9 SubmittersRCV000724356 RCV000763954 RCV001797659 RCV001818417 RCV003462277 RCV006362097 RCV005406891
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	SNV Germline	Chr15:27985173	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA240003	rs_143218168	11 SubmittersRCV000174460 RCV001121675 RCV003462278 RCV004742309 RCV005003528 RCV006452482
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	SNV Germline	Chr15:27926186	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases 6 conditions not specified Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA241133	rs_371412500	12 SubmittersRCV000175395 RCV000624462 RCV001078137 RCV001818421 RCV001797661
NM_000275.3(OCA2):c.45G>A (p.Pro15=)	SNV Germline	Chr15:28081830	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA241320	rs_202091837	4 SubmittersRCV000175573 RCV001797662
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	SNV Germline	Chr15:27871191	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA242025	rs_780296175	9 SubmittersRCV000192656 RCV000724171 RCV003407649 RCV003468858 RCV005003529
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)	SNV Germline	Chr15:27851427	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism OCA2-related disorder	Criteria Provided Conflicting Classifications	CA242139	rs_145968118	7 SubmittersRCV000176257 RCV001118037 RCV003917635
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	SNV Germline	Chr15:27844966	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA242287	rs_765779905	8 SubmittersRCV000176361 RCV000504183 RCV003416081 RCV003468859
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	SNV Germline	Chr15:28022554	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA246554	rs_183487020	11 SubmittersRCV000179280 RCV000604129 RCV003468869 RCV005003533 RCV006456791
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)	SNV Germline	Chr15:28022515	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA246555	rs_190612616	8 SubmittersRCV000179281 RCV001797665 RCV003468870 RCV005003534 RCV005431526
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	SNV Germline	Chr15:28018477	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA247053	rs_138065338	11 SubmittersRCV000179741 RCV001118260 RCV002478597 RCV003468871 RCV003955089 RCV005417997
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg)	SNV Germline	Chr15:27926237	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA10575784	rs_879253729	1 SubmittersRCV000234793
NM_000275.3(OCA2):c.1044+1G>T	SNV Germline	Chr15:28014775	Pathogenic	Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7439253	rs_185504549	2 SubmittersRCV000234803 RCV006275861
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)	SNV Germline	Chr15:27845047	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA277156	rs_797045839	4 SubmittersRCV000193498 RCV001853098 RCV003468885 RCV005892342
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)	SNV Germline	Chr15:27926194	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA277382	rs_797045838	1 SubmittersRCV000194788
NM_000275.3(OCA2):c.1503+5G>A	SNV Germline	Chr15:27983340	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277168	rs_368124046	8 SubmittersRCV000193557 RCV000302408 RCV000762939 RCV003468884 RCV004742323
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)	SNV Germline	Chr15:27983421	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA276958	rs_763819379	4 SubmittersRCV000192364 RCV004689667 RCV005089985 RCV005008126
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	SNV Germline	Chr15:27986615	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided Nonsyndromic Oculocutaneous Albinism OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Albinism or congenital nystagmus	Criteria Provided Conflicting Classifications	CA277110	rs_144812594	13 SubmittersRCV000193262 RCV000413048 RCV000755087 RCV003401054 RCV003462301 RCV004767132 RCV005003550 RCV005416030
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)	SNV Germline	Chr15:27989630	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism OCA2-related disorder	Criteria Provided Conflicting Classifications	CA205260	rs_137956605	6 SubmittersRCV000192434 RCV000732449 RCV001797675 RCV003417701
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)	SNV Germline	Chr16:89919722	Conflicting classifications of pathogenicity	not specified Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 5 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Tyrosinase-positive oculocutaneous albinism Increased analgesia from kappa-opioid receptor agonist, female-specific Melanoma, cutaneous malignant, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA8255599	rs_1110400	9 SubmittersRCV000247792 RCV000254880 RCV001081128 RCV005008187
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	SNV Germline	Chr15:27985108	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism Inborn genetic diseases OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439082	rs_1800408	14 SubmittersRCV000243597 RCV000766763 RCV001119694 RCV002519877 RCV003389640 RCV003469193 RCV005003594 RCV005055795
NM_000275.3(OCA2):c.1117-17T>C	SNV Germline	Chr15:27989683	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439196	rs_200081580	5 SubmittersRCV000242468 RCV001341989 RCV001797695
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)	SNV Germline	Chr15:27990612	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism Albinism or congenital nystagmus	Criteria Provided Multiple Submitters No Conflicts	CA7439224	rs_373775562	6 SubmittersRCV001854952 RCV003128241 RCV004701347 RCV005008218 RCV006605257
NM_000275.3(OCA2):c.1047C>T (p.Ile349=)	SNV Germline	Chr15:27990645	Conflicting classifications of pathogenicity	Condition: not provided OCA2-related disorder Tyrosinase-positive oculocutaneous albinism Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7439229	rs_767182132	5 SubmittersRCV002055034 RCV003891842 RCV003128240 RCV005692191
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)	SNV Germline	Chr16:89919714	Conflicting classifications of pathogenicity	Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 5 Tyrosinase-positive oculocutaneous albinism Melanoma, cutaneous malignant, susceptibility to, 5 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Increased analgesia from kappa-opioid receptor agonist, female-specific Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA8255597	rs_201326893	5 SubmittersRCV000254860 RCV000470714 RCV005016656 RCV005396856
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)	SNV Germline	Chr15:27926252	Conflicting classifications of pathogenicity	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA10605608	rs_886043514	4 SubmittersRCV000293261 RCV004567833 RCV005003610
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)	SNV Germline	Chr15:27871922	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438758	rs_745803719	4 SubmittersRCV000299479 RCV001850668 RCV006275864 RCV006458241
NM_000275.3(OCA2):c.48G>A (p.Ala16=)	SNV Germline	Chr15:28081827	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439606	rs_371834997	2 SubmittersRCV000324522 RCV002056447
NM_000275.3(OCA2):c.2322C>T (p.Phe774=)	SNV Germline	Chr15:27851398	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438637	rs_762388937	2 SubmittersRCV000339181 RCV003727669
NM_000275.3(OCA2):c.2145C>G (p.Val715=)	SNV Germline	Chr15:27871253	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA10641511	rs_779836224	2 SubmittersRCV000390523 RCV002056445
NM_000275.3(OCA2):c.666C>T (p.His222=)	SNV Germline	Chr15:28018538	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439388	rs_751309779	2 SubmittersRCV000401824 RCV002056446
NM_000275.3(OCA2):c.648C>T (p.Ser216=)	SNV Germline	Chr15:28018556	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA10641517	rs_886051026	2 SubmittersRCV000313394 RCV003765831
NM_000275.3(OCA2):c.594G>A (p.Pro198=)	SNV Germline	Chr15:28022553	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439414	rs_762764142	2 SubmittersRCV000363514 RCV002520939
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)	SNV Germline	Chr15:27983395	Likely pathogenic	Condition: not provided Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7439033	rs_747214535	4 SubmittersRCV001820933 RCV004689714 RCV005010275
NM_000275.3(OCA2):c.1364+4C>T	SNV Germline	Chr15:27985060	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439068	rs_1800409	2 SubmittersRCV000290205 RCV002061174
NM_000275.3(OCA2):c.216C>G (p.Leu72=)	SNV Germline	Chr15:28081659	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439550	rs_766072141	3 SubmittersRCV000328135 RCV001444413
NM_000275.3(OCA2):c.2432+11A>G	SNV Germline	Chr15:27844948	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438574	rs_145577954	3 SubmittersRCV000344849 RCV001519726
NM_000275.3(OCA2):c.1785-7C>G	SNV Germline	Chr15:27955222	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided OCA2-related disorder Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA7438901	rs_375281082	5 SubmittersRCV000298353 RCV001452945 RCV003969881 RCV005893350
NM_000275.3(OCA2):c.1326C>T (p.Asn442=)	SNV Germline	Chr15:27985102	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA10646733	rs_886051025	3 SubmittersRCV000376573 RCV000909108
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro)	SNV Germline	Chr16:89919505	Conflicting classifications of pathogenicity	Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 5 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA8255535	rs_34474212	8 SubmittersRCV000489013 RCV001088138 RCV003335306 RCV005396958
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)	SNV Germline	Chr16:89919773	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Melanoma, cutaneous malignant, susceptibility to, 5 Skin and Hair Hypopigmentation	Criteria Provided Conflicting Classifications	CA8255637	rs_376670171	5 SubmittersRCV000662301 RCV000473808 RCV000851262
NM_002386.4(MC1R):c.637C>T (p.Arg213Trp)	SNV Germline	Chr16:89919895	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 5 Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA8255693	rs_200000734	4 SubmittersRCV000476253 RCV005396959 RCV006441843
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	SNV Germline	Chr15:28014795	Conflicting classifications of pathogenicity	Albinism Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439258	rs_142931246	13 SubmittersRCV000415383 RCV001116802 RCV001574644 RCV003470362 RCV003401404 RCV003155175 RCV005004146
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)	SNV Germline	Chr15:27990583	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism OCA2-related disorder	Criteria Provided Conflicting Classifications	CA7439220	rs_34731820	5 SubmittersRCV000483390 RCV000766740 RCV000778423 RCV004742445
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	SNV Germline	Chr15:27851390	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7438634	rs_776814755	7 SubmittersRCV000493655 RCV000762937 RCV002470881 RCV003470613 RCV004742450
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)	SNV Germline	Chr15:28081796	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided not specified OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439593	rs_61738394	11 SubmittersRCV000501419 RCV000727245 RCV001172458 RCV003403148 RCV006275866
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	SNV Germline	Chr15:27845052	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Albinism Inborn genetic diseases SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism Condition: not provided Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7438605	rs_141949212	14 SubmittersRCV000500809 RCV000505060 RCV000624810 RCV000762936 RCV001326085 RCV003330734 RCV003470629 RCV004742457
NM_000275.3(OCA2):c.2245-6C>G	SNV Germline	Chr15:27851481	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438670	rs_368772032	4 SubmittersRCV000503244 RCV002524244 RCV005010434 RCV004796211
NM_000275.3(OCA2):c.2208G>T (p.Ser736=)	SNV Germline	Chr15:27871190	Conflicting classifications of pathogenicity	not specified Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438710	rs_1800418	4 SubmittersRCV000502401 RCV000902597 RCV001119574
NM_000275.3(OCA2):c.2080-1G>A	SNV Germline	Chr15:27871923	Pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA391363680	rs_1555422232	2 SubmittersRCV000504359 RCV003546565
NM_000275.3(OCA2):c.1182+1G>A	SNV Germline	Chr15:27989600	Pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided OCA2-related disorder SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7439180	rs_371963034	11 SubmittersRCV000502094 RCV001550696 RCV003424061 RCV003464075 RCV005010435
NM_000275.3(OCA2):c.807+1G>T	SNV Germline	Chr15:28018396	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7439352	rs_763219039	6 SubmittersRCV000501883 RCV001857136 RCV002490839 RCV003470630
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu)	SNV Germline	Chr15:28024883	Conflicting classifications of pathogenicity	not specified SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA391361583	rs_1277911369	4 SubmittersRCV000503665 RCV004568636 RCV005091108 RCV005869527
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)	SNV Germline	Chr15:27957712	Likely pathogenic	Albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA391366018	rs_1384042381	3 SubmittersRCV000504873 RCV005010444 RCV003322778
NM_002386.4(MC1R):c.917G>A (p.Arg306His)	SNV Germline	Chr16:89920175	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 5 Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA8255813	rs_368507952	3 SubmittersRCV000559368 RCV002250656
NM_002386.4(MC1R):c.332C>T (p.Ala111Val)	SNV Germline	Chr16:89919590	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 5 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 Tyrosinase-positive oculocutaneous albinism Increased analgesia from kappa-opioid receptor agonist, female-specific Melanoma, cutaneous malignant, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA8255562	rs_201489928	3 SubmittersRCV000526662 RCV000764096
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	SNV Germline	Chr15:27985106	Conflicting classifications of pathogenicity	Condition: not provided Nonsyndromic Oculocutaneous Albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439081	rs_147816326	7 SubmittersRCV000596631 RCV000755088 RCV001797758 RCV003459475 RCV005431796
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_000275.3(OCA2):c.1000G>A (p.Ala334Thr)	SNV Germline	Chr15:28014820	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA391364893	rs_1456118236	4 SubmittersRCV000624441 RCV001662669 RCV001797766
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)	SNV Germline	Chr16:89920152	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Skin and Hair Hypopigmentation	No Assertion Criteria Provided	CA8255800	rs_143395134	2 SubmittersRCV000662304 RCV000851265
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	SNV Germline	Chr15:27845031	Conflicting classifications of pathogenicity	Nonsyndromic Oculocutaneous Albinism Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder	Criteria Provided Conflicting Classifications	CA7438597	rs_200457227	14 SubmittersRCV000755094 RCV000785611 RCV001093224 RCV002507318 RCV003465674 RCV004742625
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr)	SNV Germline	Chr15:27983392	Conflicting classifications of pathogenicity	Nonsyndromic Oculocutaneous Albinism Tyrosinase-positive oculocutaneous albinism Condition: not provided Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439031	rs_772324459	5 SubmittersRCV000755089 RCV000785612 RCV005001107 RCV005407935
NM_000275.3(OCA2):c.1045-15T>G	SNV Germline	Chr15:27990662	Pathogenic/Likely pathogenic	Nonsyndromic Oculocutaneous Albinism Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7439231	rs_779461179	5 SubmittersRCV000755082 RCV002250689 RCV002536551
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	SNV Germline	Chr15:27845028	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7438595	rs_147736385	7 SubmittersRCV000851380 RCV001578073 RCV003465688 RCV004702403
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)	SNV Germline	Chr15:27926233	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA267867207	rs_749249918	3 SubmittersRCV000851379 RCV006275876
NM_000275.3(OCA2):c.1460C>A (p.Pro487His)	SNV Germline	Chr15:27983388	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	No Assertion Criteria Provided	CA391359364	rs_1595760903	1 SubmittersRCV000851378
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)	SNV Germline	Chr15:27985142	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	No Assertion Criteria Provided	CA391360646	rs_1595764680	1 SubmittersRCV000851377
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)	SNV Germline	Chr15:28022564	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7439417	rs_767092342	4 SubmittersRCV000851375 RCV003465687 RCV006464178
NM_000275.3(OCA2):c.1637-2A>G	SNV Germline	Chr15:27957737	Pathogenic	Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391366197	rs_1595717218	2 SubmittersRCV000851381 RCV004796302
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)	SNV Germline	Chr15:27871197	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7438712	rs_768934658	4 SubmittersRCV000779152 RCV001568483 RCV005004413
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	SNV Germline	Chr15:27985065	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439072	rs_200764804	8 SubmittersRCV000778422 RCV001339980 RCV002487598 RCV003461049 RCV005418343
NM_000275.3(OCA2):c.2245-6C>A	SNV Germline	Chr15:27851481	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA7438668	rs_368772032	6 SubmittersRCV000827172 RCV001118039 RCV006275877
NM_000275.3(OCA2):c.1744C>T (p.Leu582=)	SNV Germline	Chr15:27957628	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438934	rs_61751032	4 SubmittersRCV000959176 RCV001116701
NM_000275.3(OCA2):c.2043C>G (p.Thr681=)	SNV Germline	Chr15:27926163	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438789	rs_368126732	4 SubmittersRCV000933522 RCV001121580
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	SNV Germline	Chr15:27845032	Pathogenic/Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Albinism or congenital nystagmus	Criteria Provided Multiple Submitters No Conflicts	CA7438598	rs_142988897	13 SubmittersRCV000989277 RCV001869361 RCV002497282 RCV003461297 RCV006261989
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)	SNV Germline	Chr15:27851396	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA267845036	rs_987780496	6 SubmittersRCV001048856 RCV003128258 RCV003467756 RCV005012483
NM_002386.4(MC1R):c.23G>A (p.Arg8Lys)	SNV Germline	Chr16:89919281	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 5 Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA8255461	rs_554831935	2 SubmittersRCV001035943 RCV005394657
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)	SNV Germline	Chr15:27844979	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438581	rs_747340554	2 SubmittersRCV001116588 RCV002069880
NM_000275.3(OCA2):c.2361G>A (p.Ala787=)	SNV Germline	Chr15:27845030	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438596	rs_763462686	2 SubmittersRCV001118035 RCV002069905
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr)	SNV Germline	Chr15:27851424	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438650	rs_144064082	2 SubmittersRCV001118036 RCV002069906
NM_000275.3(OCA2):c.2229G>A (p.Pro743=)	SNV Germline	Chr15:27871169	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438706	rs_41307118	2 SubmittersRCV001119573 RCV002069941
NM_000275.3(OCA2):c.2169C>T (p.Ala723=)	SNV Germline	Chr15:27871229	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438717	rs_370020051	2 SubmittersRCV001119576 RCV002069942
NM_000275.3(OCA2):c.1864C>T (p.Leu622=)	SNV Germline	Chr15:27951871	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438865	rs_543493041	2 SubmittersRCV001121582 RCV002069975
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)	SNV Germline	Chr15:27951878	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided not specified OCA2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7438867	rs_7164127	8 SubmittersRCV001121583 RCV001429605 RCV001701288 RCV004743296 RCV005692287
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)	SNV Germline	Chr15:27957610	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA7438929	rs_150711896	5 SubmittersRCV001116700 RCV001515895 RCV005626334
NM_000275.3(OCA2):c.1656C>T (p.His552=)	SNV Germline	Chr15:27957716	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438955	rs_777131634	2 SubmittersRCV001116703 RCV002069885
NM_000275.3(OCA2):c.1560C>A (p.Leu520=)	SNV Germline	Chr15:27966766	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7438990	rs_140932222	4 SubmittersRCV001116705 RCV001519425
NM_000275.3(OCA2):c.1479T>G (p.Val493=)	SNV Germline	Chr15:27983369	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439029	rs_374434751	3 SubmittersRCV001118145 RCV001515035
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)	SNV Germline	Chr15:27985092	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided not specified Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA7439079	rs_140566426	5 SubmittersRCV001119693 RCV002069944 RCV003235472 RCV006275880
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)	SNV Germline	Chr15:27989623	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA7439186	rs_150335311	5 SubmittersRCV001121677 RCV001327248 RCV005012577
NM_000275.3(OCA2):c.972C>T (p.Arg324=)	SNV Germline	Chr15:28014848	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439276	rs_368832716	2 SubmittersRCV001116804 RCV002069886
NM_000275.3(OCA2):c.751G>A (p.Val251Met)	SNV Germline	Chr15:28018453	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided OCA2-related disorder	Criteria Provided Conflicting Classifications	CA7439369	rs_147432138	4 SubmittersRCV001118259 RCV002069910 RCV003945828
NM_000275.3(OCA2):c.162G>A (p.Gly54=)	SNV Germline	Chr15:28081713	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA488959875	rs_1391198560	2 SubmittersRCV001119791 RCV003769175
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)	SNV Germline	Chr15:28081769	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439579	rs_148066812	5 SubmittersRCV001119793 RCV001760086
NM_000275.3(OCA2):c.1503+7A>T	SNV Germline	Chr15:27983338	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Conflicting Classifications	CA7439022	rs_199875420	2 SubmittersRCV001118144 RCV002069908
NM_000275.3(OCA2):c.890+1G>A	SNV Germline	Chr15:28016103	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA391365275	rs_2042382744	2 SubmittersRCV001269031 RCV001873596
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser)	SNV Unknown	Chr15:27985109	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391360583	rs_2041306355	1 SubmittersRCV001249766
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	SNV Germline	Chr15:27966746	Pathogenic/Likely pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7438983	rs_779850564	6 SubmittersRCV001366949 RCV003462930 RCV003389336 RCV005005212
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)	SNV Germline	Chr15:27926223	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA391361326	rs_2140372179	2 SubmittersRCV001532247 RCV003128269
NM_000275.3(OCA2):c.941T>G (p.Val314Gly)	SNV Germline	Chr15:28014879	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7439288	rs_762262964	3 SubmittersRCV001547300 RCV005005257
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn)	SNV Germline	Chr15:27951834	Conflicting classifications of pathogenicity	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438859	rs_200692258	6 SubmittersRCV001553116 RCV003470862 RCV004743547 RCV005395071 RCV006457405
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	SNV Germline	Chr15:27985079	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7439078	rs_772019064	10 SubmittersRCV001583207 RCV001810100 RCV003470868 RCV005005262 RCV003910909
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	SNV Germline	Chr15:28016126	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7439321	rs_769408559	6 SubmittersRCV001587029 RCV002477856 RCV003463054
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)	SNV Germline	Chr15:28016120	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism OCA2-related disorder Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439320	rs_745573222	6 SubmittersRCV001773844 RCV002471142 RCV003394239 RCV005006014 RCV006457486
NM_000275.3(OCA2):c.1860G>C (p.Gly620=)	SNV Germline	Chr15:27951875	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA488959701	rs_2140619474	1 SubmittersRCV001797002
NM_000275.3(OCA2):c.1951+1G>C	SNV Germline	Chr15:27951783	Pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391364232	rs_752727398	1 SubmittersRCV001806445
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys)	SNV Germline	Chr15:27957724	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA391366107	rs_2140706418	2 SubmittersRCV001808893
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro)	SNV Germline	Chr15:27983404	Conflicting classifications of pathogenicity	Tyrosinase-positive oculocutaneous albinism Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA391359437	rs_2041233832	3 SubmittersRCV002049748 RCV002543442 RCV005409027
NM_000275.3(OCA2):c.41C>T (p.Ala14Val)	SNV Germline	Chr15:28081834	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7439611	rs_763734477	3 SubmittersRCV001905699 RCV002503488 RCV004041379
NM_000275.3(OCA2):c.2338+1G>T	SNV Germline	Chr15:27851381	Pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7438633	rs_770635415	4 SubmittersRCV001950284 RCV003464272 RCV005006277
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)	SNV Germline	Chr15:27989605	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7439181	rs_749661379	6 SubmittersRCV001884356 RCV004017879 RCV005006159
NM_000275.3(OCA2):c.1504-2A>G	SNV Germline	Chr15:27966824	Pathogenic/Likely pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7439006	rs_752460023	4 SubmittersRCV001886910 RCV003471002 RCV005002635
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter)	SNV Germline	Chr15:28027983	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA267887422	rs_959570803	3 SubmittersRCV001943586 RCV005002672 RCV006558038
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter)	SNV Germline	Chr15:28027893	Pathogenic/Likely pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA391361797	rs_2141347507	4 SubmittersRCV001990017 RCV003471112 RCV006275890
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)	SNV Germline	Chr15:27990616	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7439225	rs_200398581	5 SubmittersRCV001993111 RCV003128278 RCV003471115
NM_000275.3(OCA2):c.2244+1G>A	SNV Germline	Chr15:27871153	Pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA391363321	rs_868098120	2 SubmittersRCV001942988 RCV003232462
NM_000275.3(OCA2):c.1842+2T>C	SNV Germline	Chr15:27955156	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA391365122	rs_1226502822	3 SubmittersRCV001956266 RCV002274238 RCV005008307
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)	SNV Germline	Chr15:27957673	Conflicting classifications of pathogenicity	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA7438940	rs_779086242	4 SubmittersRCV001912267 RCV004571494 RCV006275887
NM_000275.3(OCA2):c.1328T>C (p.Val443Ala)	SNV Germline	Chr15:27985100	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA391360562	rs_1325388159	2 SubmittersRCV002023760 RCV005397276
NM_000275.3(OCA2):c.2497G>A (p.Val833Met)	SNV Germline	Chr15:27755408	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7438552	rs_200396611	2 SubmittersRCV002104249 RCV005397325
NM_000275.3(OCA2):c.914G>A (p.Arg305Gln)	SNV Germline	Chr15:28014906	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Conflicting Classifications	CA7439294	rs_141603023	2 SubmittersRCV002093618 RCV003339923
NM_000275.3(OCA2):c.797G>A (p.Arg266Gln)	SNV Germline	Chr15:28018407	Conflicting classifications of pathogenicity	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications	CA7439354	rs_774460527	2 SubmittersRCV002165348 RCV006275894
NM_000275.3(OCA2):c.646+1G>T	SNV Germline	Chr15:28022500	Pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391366950	rs_1046172334	1 SubmittersRCV002274285
NM_000275.3(OCA2):c.1365-1G>A	SNV Germline	Chr15:27983484	Pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA391359987	rs_2140965742	2 SubmittersRCV002274286 RCV003718468
NM_000275.3(OCA2):c.515+1G>A	SNV Germline	Chr15:28027870	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7439479	rs_774784508	2 SubmittersRCV002283622 RCV003688958
NM_000275.3(OCA2):c.808-3C>G	SNV Germline	Chr15:28016189	Pathogenic	Tyrosinase-positive oculocutaneous albinism OCA2-related disorder Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA616713483	rs_1169783208	4 SubmittersRCV002284014 RCV003408208 RCV003560928 RCV003471311
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)	SNV Germline	Chr15:27755472	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7438560	rs_779382711	2 SubmittersRCV003058449 RCV003128321
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)	SNV Germline	Chr15:27871240	Pathogenic/Likely pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7438721	rs_141545475	5 SubmittersRCV003041213 RCV004572732 RCV004744541 RCV005002929
NM_000275.3(OCA2):c.1951+1G>A	SNV Germline	Chr15:27951783	Pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7438851	rs_752727398	3 SubmittersRCV003064240 RCV003459729 RCV004782995
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)	SNV Germline	Chr15:27871239	Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7438720	rs_776631782	4 SubmittersRCV003061606 RCV005010961
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)	SNV Germline	Chr15:27957658	Pathogenic/Likely pathogenic	Condition: not provided SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA7438939	rs_374415755	3 SubmittersRCV002585444 RCV003465971 RCV005011020
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)	SNV Germline	Chr15:27983430	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA267890284	rs_781118824	2 SubmittersRCV002861944 RCV005002891
NM_000275.3(OCA2):c.1045-10T>G	SNV Germline	Chr15:27990657	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA2580089184	rs_2548363796	1 SubmittersRCV003128358
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)	SNV Germline	Chr15:27951861	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391364504	rs_2506400245	1 SubmittersRCV003128359
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)	SNV Germline	Chr15:27957594	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391365541	rs_2506575769	1 SubmittersRCV003128361
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)	SNV Germline	Chr15:27983367	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA267890242	rs_370239668	1 SubmittersRCV003128362
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)	SNV Germline	Chr15:27871913	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA7438756	rs_771063630	1 SubmittersRCV003128363
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)	SNV Germline	Chr15:27990628	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391362403	rs_570914443	1 SubmittersRCV003128364
NM_000275.3(OCA2):c.1116+6T>C	SNV Germline	Chr15:27990570	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA2575653212	rs_2548363238	1 SubmittersRCV003128365
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)	SNV Germline	Chr15:27871182	Likely pathogenic	Oculocutaneous albinism Condition: not provided Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA267859829	rs_780628028	5 SubmittersRCV003317723 RCV003561291 RCV005003054 RCV004572919 RCV004741589
NM_000275.3(OCA2):c.1951+1215G>T	SNV Germline	Chr15:27950569	Pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA267879261	rs_1004064327	1 SubmittersRCV003443472
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)	SNV Germline	Chr15:28027980	Pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided Hypophosphatasia Oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7439501	rs_201791790	6 SubmittersRCV003463221 RCV003553961 RCV004540683 RCV004526261 RCV005012963 RCV005871178
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)	SNV Germline	Chr15:27983422	Pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided Tyrosinase-positive oculocutaneous albinism Oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA391359535	rs_2548339234	4 SubmittersRCV003463225 RCV003553962 RCV004796813 RCV005240776
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)	SNV Germline	Chr15:27955168	Pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Condition: not provided Oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA7438893	rs_766188851	4 SubmittersRCV003471626 RCV003732594 RCV004765847 RCV005636940
NM_000275.3(OCA2):c.2244+2T>G	SNV Germline	Chr15:27871152	Pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA391363319	rs_1338085924	2 SubmittersRCV003471629 RCV005012964
NM_000275.3(OCA2):c.1240-1G>T	SNV Germline	Chr15:27985189	Pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter	CA391360738	rs_2548345877	1 SubmittersRCV003485992
NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)	SNV Germline	Chr15:27755414	Pathogenic/Likely pathogenic	Condition: not provided Oculocutaneous albinism Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Multiple Submitters No Conflicts	CA268293927	rs_183101063	3 SubmittersRCV003557842 RCV004690434 RCV005003669
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)	SNV Germline	Chr15:27871203	Pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA391363417	rs_2036558249	2 SubmittersRCV003727143 RCV004796841
NM_000275.3(OCA2):c.1970G>T (p.Gly657Val)	SNV Germline	Chr15:27926236	Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts	CA391361384	rs_957981838	2 SubmittersRCV003734648 RCV006249901
NM_000275.3(OCA2):c.2433-22889T>A	SNV Germline	Chr15:27778361	Pathogenic/Likely pathogenic	Condition: not provided Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005433517 RCV004798069
NM_000275.3(OCA2):c.2080-158A>G	SNV Germline	Chr15:27872080	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV004798070
NM_000275.3(OCA2):c.316C>T (p.Gln106Ter)	SNV Germline	Chr15:28032075	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Multiple Submitters No Conflicts		rs_2042921188	3 SubmittersRCV004574415 RCV005003768 RCV005254912
NM_000275.3(OCA2):c.631C>T (p.Pro211Ser)	SNV Germline	Chr15:28022516	Conflicting classifications of pathogenicity	not specified Tyrosinase-positive oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Criteria Provided Conflicting Classifications			2 SubmittersRCV004699905 RCV005006500
NM_000275.3(OCA2):c.2244+1G>C	SNV Unknown	Chr15:27871153	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV004720556
NM_000275.3(OCA2):c.2479T>C (p.Tyr827His)	SNV Germline	Chr15:27755426	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005009421
NM_000275.3(OCA2):c.2432G>A (p.Arg811Lys)	SNV Germline	Chr15:27844959	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005005720
NM_000275.3(OCA2):c.2251G>A (p.Val751Met)	SNV Germline	Chr15:27851469	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005009422
NM_000275.3(OCA2):c.1675C>T (p.Gln559Ter)	SNV Germline	Chr15:27957697	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005009425
NM_000275.3(OCA2):c.988C>T (p.Gln330Ter)	SNV Germline	Chr15:28014832	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005005728
NM_000275.3(OCA2):c.1A>G (p.Met1Val)	SNV Germline	Chr15:28081874	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005005732
NM_000275.3(OCA2):c.1250T>C (p.Leu417Pro)	SNV Germline	Chr15:27985178	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV006275922
NM_000275.3(OCA2):c.1982T>A (p.Leu661Ter)	SNV Unknown	Chr15:27926224	Pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV006275923
NM_000275.3(OCA2):c.2032G>A (p.Glu678Lys)	SNV Germline	Chr15:27926174	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV006275924
NM_000275.3(OCA2):c.2050T>G (p.Phe684Val)	SNV Germline	Chr15:27926156	Likely pathogenic	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV006275925
NM_000275.3(OCA2):c.1081C>G (p.Leu361Val)	SNV Germline	Chr15:27990611	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005629898
NM_000275.3(OCA2):c.2063T>C (p.Leu688Pro)	SNV Germline	Chr15:27926143	Pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV005860826
NM_000275.3(OCA2):c.2338G>A (p.Gly780Ser)	SNV Germline	Chr15:27851382	Likely pathogenic	Tyrosinase-positive oculocutaneous albinism	Criteria Provided Single Submitter			1 SubmittersRCV006259812

SNV
Germline

Chr15:27955157

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA251632

rs_387906240

6 SubmittersRCV000001004 RCV001851521 RCV003323345 RCV004566666

NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)

SNV
Germline

Chr15:27983407

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
not specified
Condition: not provided
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA251633

rs_74653330

16 SubmittersRCV000001005 RCV000251919 RCV000487934 RCV003891424 RCV006275851

NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)

SNV
Germline

Chr15:27985101

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Inborn genetic diseases
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
See cases
Albinism or congenital nystagmus
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA251634

rs_121918166

42 SubmittersRCV000001006 RCV000310636 RCV000623104 RCV000477815 RCV002251850 RCV004584136 RCV003415611 RCV003466772

NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)

SNV
Germline

Chr15:27871170

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Nonsyndromic Oculocutaneous Albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA251635

rs_121918167

16 SubmittersRCV000001007 RCV000481371 RCV000762938 RCV000755092 RCV003460401 RCV005406715

NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)

SNV
Germline

Chr15:28014819

Pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA251637

rs_121918168

7 SubmittersRCV000001009 RCV001851522 RCV003466773 RCV006261716

NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)

SNV
Germline

Chr15:27926169

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA251639

rs_121918169

12 SubmittersRCV000001011 RCV001262139 RCV001093225 RCV003317027 RCV005007802

NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)

SNV
Germline

Chr15:27983383

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA251640

rs_121918170

19 SubmittersRCV000001012 RCV000413429 RCV000762940 RCV003421891 RCV003466774 RCV003492280

NM_002386.4(MC1R):c.880G>C (p.Asp294His)

SNV
Germline

Chr16:89920138

Conflicting classifications of pathogenicity; risk factor

Skin/hair/eye pigmentation 2, red hair/fair skin
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Skin and Hair Hypopigmentation
Melanoma, cutaneous malignant, susceptibility to, 5
Melanoma
MC1R-related disorder

Criteria Provided
Conflicting Classifications

CA123861

rs_1805009

12 SubmittersRCV000015377 RCV000347221 RCV000662303 RCV000851264 RCV001080639 RCV001195217 RCV003891437

NM_000275.3(OCA2):c.1045-9T>G

SNV
Germline

Chr15:27990656

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
not specified
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA239105

rs_755604671

6 SubmittersRCV000173665 RCV003128232 RCV003150966 RCV003468853

NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)

SNV
Germline

Chr15:27990589

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Inborn genetic diseases
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism
Albinism or congenital nystagmus

Criteria Provided
Conflicting Classifications

CA239106

rs_61745150

16 SubmittersRCV000442309 RCV000709815 RCV002516597 RCV003462273 RCV005003526 RCV005406888 RCV005646771

NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)

SNV
Germline

Chr15:27986643

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA239739

rs_757286784

7 SubmittersRCV000174230 RCV000502815 RCV005003527

NM_000275.3(OCA2):c.1239+5G>C

SNV
Germline

Chr15:27986582

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
not specified
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Inborn genetic diseases
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA239740

rs_757119713

9 SubmittersRCV000724356 RCV000763954 RCV001797659 RCV001818417 RCV003462277 RCV006362097 RCV005406891

NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr15:27985173

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA240003

rs_143218168

11 SubmittersRCV000174460 RCV001121675 RCV003462278 RCV004742309 RCV005003528 RCV006452482

NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)

SNV
Germline

Chr15:27926186

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
6 conditions
not specified
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA241133

rs_371412500

12 SubmittersRCV000175395 RCV000624462 RCV001078137 RCV001818421 RCV001797661

NM_000275.3(OCA2):c.45G>A (p.Pro15=)

SNV
Germline

Chr15:28081830

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA241320

rs_202091837

4 SubmittersRCV000175573 RCV001797662

NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)

SNV
Germline

Chr15:27871191

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA242025

rs_780296175

9 SubmittersRCV000192656 RCV000724171 RCV003407649 RCV003468858 RCV005003529

NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)

SNV
Germline

Chr15:27851427

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder

Criteria Provided
Conflicting Classifications

CA242139

rs_145968118

7 SubmittersRCV000176257 RCV001118037 RCV003917635

NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)

SNV
Germline

Chr15:27844966

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA242287

rs_765779905

8 SubmittersRCV000176361 RCV000504183 RCV003416081 RCV003468859

NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)

SNV
Germline

Chr15:28022554

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA246554

rs_183487020

11 SubmittersRCV000179280 RCV000604129 RCV003468869 RCV005003533 RCV006456791

NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)

SNV
Germline

Chr15:28022515

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA246555

rs_190612616

8 SubmittersRCV000179281 RCV001797665 RCV003468870 RCV005003534 RCV005431526

NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr15:28018477

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA247053

rs_138065338

11 SubmittersRCV000179741 RCV001118260 RCV002478597 RCV003468871 RCV003955089 RCV005417997

NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg)

SNV
Germline

Chr15:27926237

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA10575784

rs_879253729

1 SubmittersRCV000234793

NM_000275.3(OCA2):c.1044+1G>T

SNV
Germline

Chr15:28014775

Pathogenic

Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7439253

rs_185504549

2 SubmittersRCV000234803 RCV006275861

NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)

SNV
Germline

Chr15:27845047

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA277156

rs_797045839

4 SubmittersRCV000193498 RCV001853098 RCV003468885 RCV005892342

NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)

SNV
Germline

Chr15:27926194

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA277382

rs_797045838

1 SubmittersRCV000194788

NM_000275.3(OCA2):c.1503+5G>A

SNV
Germline

Chr15:27983340

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277168

rs_368124046

8 SubmittersRCV000193557 RCV000302408 RCV000762939 RCV003468884 RCV004742323

NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)

SNV
Germline

Chr15:27983421

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Oculocutaneous albinism
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA276958

rs_763819379

4 SubmittersRCV000192364 RCV004689667 RCV005089985 RCV005008126

NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)

SNV
Germline

Chr15:27986615

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Nonsyndromic Oculocutaneous Albinism
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Albinism or congenital nystagmus

Criteria Provided
Conflicting Classifications

CA277110

rs_144812594

13 SubmittersRCV000193262 RCV000413048 RCV000755087 RCV003401054 RCV003462301 RCV004767132 RCV005003550 RCV005416030

NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)

SNV
Germline

Chr15:27989630

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder

Criteria Provided
Conflicting Classifications

CA205260

rs_137956605

6 SubmittersRCV000192434 RCV000732449 RCV001797675 RCV003417701

NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)

SNV
Germline

Chr16:89919722

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 5
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Tyrosinase-positive oculocutaneous albinism
Increased analgesia from kappa-opioid receptor agonist, female-specific
Melanoma, cutaneous malignant, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA8255599

rs_1110400

9 SubmittersRCV000247792 RCV000254880 RCV001081128 RCV005008187

NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)

SNV
Germline

Chr15:27985108

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Inborn genetic diseases
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439082

rs_1800408

14 SubmittersRCV000243597 RCV000766763 RCV001119694 RCV002519877 RCV003389640 RCV003469193 RCV005003594 RCV005055795

NM_000275.3(OCA2):c.1117-17T>C

SNV
Germline

Chr15:27989683

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439196

rs_200081580

5 SubmittersRCV000242468 RCV001341989 RCV001797695

NM_000275.3(OCA2):c.1080C>T (p.Ser360=)

SNV
Germline

Chr15:27990612

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
Albinism or congenital nystagmus

Criteria Provided
Multiple Submitters
No Conflicts

CA7439224

rs_373775562

6 SubmittersRCV001854952 RCV003128241 RCV004701347 RCV005008218 RCV006605257

NM_000275.3(OCA2):c.1047C>T (p.Ile349=)

SNV
Germline

Chr15:27990645

Conflicting classifications of pathogenicity

Condition: not provided
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7439229

rs_767182132

5 SubmittersRCV002055034 RCV003891842 RCV003128240 RCV005692191

NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)

SNV
Germline

Chr16:89919714

Conflicting classifications of pathogenicity

Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 5
Tyrosinase-positive oculocutaneous albinism
Melanoma, cutaneous malignant, susceptibility to, 5
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Increased analgesia from kappa-opioid receptor agonist, female-specific
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA8255597

rs_201326893

5 SubmittersRCV000254860 RCV000470714 RCV005016656 RCV005396856

NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)

SNV
Germline

Chr15:27926252

Conflicting classifications of pathogenicity

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA10605608

rs_886043514

4 SubmittersRCV000293261 RCV004567833 RCV005003610

NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)

SNV
Germline

Chr15:27871922

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438758

rs_745803719

4 SubmittersRCV000299479 RCV001850668 RCV006275864 RCV006458241

NM_000275.3(OCA2):c.48G>A (p.Ala16=)

SNV
Germline

Chr15:28081827

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439606

rs_371834997

2 SubmittersRCV000324522 RCV002056447

NM_000275.3(OCA2):c.2322C>T (p.Phe774=)

SNV
Germline

Chr15:27851398

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438637

rs_762388937

2 SubmittersRCV000339181 RCV003727669

NM_000275.3(OCA2):c.2145C>G (p.Val715=)

SNV
Germline

Chr15:27871253

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641511

rs_779836224

2 SubmittersRCV000390523 RCV002056445

NM_000275.3(OCA2):c.666C>T (p.His222=)

SNV
Germline

Chr15:28018538

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439388

rs_751309779

2 SubmittersRCV000401824 RCV002056446

NM_000275.3(OCA2):c.648C>T (p.Ser216=)

SNV
Germline

Chr15:28018556

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641517

rs_886051026

2 SubmittersRCV000313394 RCV003765831

NM_000275.3(OCA2):c.594G>A (p.Pro198=)

SNV
Germline

Chr15:28022553

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439414

rs_762764142

2 SubmittersRCV000363514 RCV002520939

NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)

SNV
Germline

Chr15:27983395

Likely pathogenic

Condition: not provided
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7439033

rs_747214535

4 SubmittersRCV001820933 RCV004689714 RCV005010275

NM_000275.3(OCA2):c.1364+4C>T

SNV
Germline

Chr15:27985060

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439068

rs_1800409

2 SubmittersRCV000290205 RCV002061174

NM_000275.3(OCA2):c.216C>G (p.Leu72=)

SNV
Germline

Chr15:28081659

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439550

rs_766072141

3 SubmittersRCV000328135 RCV001444413

NM_000275.3(OCA2):c.2432+11A>G

SNV
Germline

Chr15:27844948

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438574

rs_145577954

3 SubmittersRCV000344849 RCV001519726

NM_000275.3(OCA2):c.1785-7C>G

SNV
Germline

Chr15:27955222

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
OCA2-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA7438901

rs_375281082

5 SubmittersRCV000298353 RCV001452945 RCV003969881 RCV005893350

NM_000275.3(OCA2):c.1326C>T (p.Asn442=)

SNV
Germline

Chr15:27985102

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646733

rs_886051025

3 SubmittersRCV000376573 RCV000909108

NM_002386.4(MC1R):c.247T>C (p.Ser83Pro)

SNV
Germline

Chr16:89919505

Conflicting classifications of pathogenicity

Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 5
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA8255535

rs_34474212

8 SubmittersRCV000489013 RCV001088138 RCV003335306 RCV005396958

NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)

SNV
Germline

Chr16:89919773

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Melanoma, cutaneous malignant, susceptibility to, 5
Skin and Hair Hypopigmentation

Criteria Provided
Conflicting Classifications

CA8255637

rs_376670171

5 SubmittersRCV000662301 RCV000473808 RCV000851262

NM_002386.4(MC1R):c.637C>T (p.Arg213Trp)

SNV
Germline

Chr16:89919895

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 5
Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8255693

rs_200000734

4 SubmittersRCV000476253 RCV005396959 RCV006441843

NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)

SNV
Germline

Chr15:28014795

Conflicting classifications of pathogenicity

Albinism
Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439258

rs_142931246

13 SubmittersRCV000415383 RCV001116802 RCV001574644 RCV003470362 RCV003401404 RCV003155175 RCV005004146

NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)

SNV
Germline

Chr15:27990583

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder

Criteria Provided
Conflicting Classifications

CA7439220

rs_34731820

5 SubmittersRCV000483390 RCV000766740 RCV000778423 RCV004742445

NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)

SNV
Germline

Chr15:27851390

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7438634

rs_776814755

7 SubmittersRCV000493655 RCV000762937 RCV002470881 RCV003470613 RCV004742450

NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)

SNV
Germline

Chr15:28081796

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
not specified
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439593

rs_61738394

11 SubmittersRCV000501419 RCV000727245 RCV001172458 RCV003403148 RCV006275866

NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)

SNV
Germline

Chr15:27845052

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Albinism
Inborn genetic diseases
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7438605

rs_141949212

14 SubmittersRCV000500809 RCV000505060 RCV000624810 RCV000762936 RCV001326085 RCV003330734 RCV003470629 RCV004742457

NM_000275.3(OCA2):c.2245-6C>G

SNV
Germline

Chr15:27851481

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438670

rs_368772032

4 SubmittersRCV000503244 RCV002524244 RCV005010434 RCV004796211

NM_000275.3(OCA2):c.2208G>T (p.Ser736=)

SNV
Germline

Chr15:27871190

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438710

rs_1800418

4 SubmittersRCV000502401 RCV000902597 RCV001119574

NM_000275.3(OCA2):c.2080-1G>A

SNV
Germline

Chr15:27871923

Pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391363680

rs_1555422232

2 SubmittersRCV000504359 RCV003546565

NM_000275.3(OCA2):c.1182+1G>A

SNV
Germline

Chr15:27989600

Pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
OCA2-related disorder
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7439180

rs_371963034

11 SubmittersRCV000502094 RCV001550696 RCV003424061 RCV003464075 RCV005010435

NM_000275.3(OCA2):c.807+1G>T

SNV
Germline

Chr15:28018396

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7439352

rs_763219039

6 SubmittersRCV000501883 RCV001857136 RCV002490839 RCV003470630

NM_000275.3(OCA2):c.535A>G (p.Lys179Glu)

SNV
Germline

Chr15:28024883

Conflicting classifications of pathogenicity

not specified
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA391361583

rs_1277911369

4 SubmittersRCV000503665 RCV004568636 RCV005091108 RCV005869527

NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)

SNV
Germline

Chr15:27957712

Likely pathogenic

Albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391366018

rs_1384042381

3 SubmittersRCV000504873 RCV005010444 RCV003322778

NM_002386.4(MC1R):c.917G>A (p.Arg306His)

SNV
Germline

Chr16:89920175

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 5
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA8255813

rs_368507952

3 SubmittersRCV000559368 RCV002250656

NM_002386.4(MC1R):c.332C>T (p.Ala111Val)

SNV
Germline

Chr16:89919590

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 5
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Tyrosinase-positive oculocutaneous albinism
Increased analgesia from kappa-opioid receptor agonist, female-specific
Melanoma, cutaneous malignant, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA8255562

rs_201489928

3 SubmittersRCV000526662 RCV000764096

NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)

SNV
Germline

Chr15:27985106

Conflicting classifications of pathogenicity

Condition: not provided
Nonsyndromic Oculocutaneous Albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439081

rs_147816326

7 SubmittersRCV000596631 RCV000755088 RCV001797758 RCV003459475 RCV005431796

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_000275.3(OCA2):c.1000G>A (p.Ala334Thr)

SNV
Germline

Chr15:28014820

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA391364893

rs_1456118236

4 SubmittersRCV000624441 RCV001662669 RCV001797766

NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)

SNV
Germline

Chr16:89920152

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Skin and Hair Hypopigmentation

No Assertion Criteria Provided

CA8255800

rs_143395134

2 SubmittersRCV000662304 RCV000851265

NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)

SNV
Germline

Chr15:27845031

Conflicting classifications of pathogenicity

Nonsyndromic Oculocutaneous Albinism
Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder

Criteria Provided
Conflicting Classifications

CA7438597

rs_200457227

14 SubmittersRCV000755094 RCV000785611 RCV001093224 RCV002507318 RCV003465674 RCV004742625

NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr)

SNV
Germline

Chr15:27983392

Conflicting classifications of pathogenicity

Nonsyndromic Oculocutaneous Albinism
Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439031

rs_772324459

5 SubmittersRCV000755089 RCV000785612 RCV005001107 RCV005407935

NM_000275.3(OCA2):c.1045-15T>G

SNV
Germline

Chr15:27990662

Pathogenic/Likely pathogenic

Nonsyndromic Oculocutaneous Albinism
Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7439231

rs_779461179

5 SubmittersRCV000755082 RCV002250689 RCV002536551

NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)

SNV
Germline

Chr15:27845028

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7438595

rs_147736385

7 SubmittersRCV000851380 RCV001578073 RCV003465688 RCV004702403

NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)

SNV
Germline

Chr15:27926233

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA267867207

rs_749249918

3 SubmittersRCV000851379 RCV006275876

NM_000275.3(OCA2):c.1460C>A (p.Pro487His)

SNV
Germline

Chr15:27983388

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

No Assertion Criteria Provided

CA391359364

rs_1595760903

1 SubmittersRCV000851378

NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)

SNV
Germline

Chr15:27985142

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

No Assertion Criteria Provided

CA391360646

rs_1595764680

1 SubmittersRCV000851377

NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)

SNV
Germline

Chr15:28022564

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7439417

rs_767092342

4 SubmittersRCV000851375 RCV003465687 RCV006464178

NM_000275.3(OCA2):c.1637-2A>G

SNV
Germline

Chr15:27957737

Pathogenic

Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391366197

rs_1595717218

2 SubmittersRCV000851381 RCV004796302

NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)

SNV
Germline

Chr15:27871197

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7438712

rs_768934658

4 SubmittersRCV000779152 RCV001568483 RCV005004413

NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)

SNV
Germline

Chr15:27985065

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439072

rs_200764804

8 SubmittersRCV000778422 RCV001339980 RCV002487598 RCV003461049 RCV005418343

NM_000275.3(OCA2):c.2245-6C>A

SNV
Germline

Chr15:27851481

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA7438668

rs_368772032

6 SubmittersRCV000827172 RCV001118039 RCV006275877

NM_000275.3(OCA2):c.1744C>T (p.Leu582=)

SNV
Germline

Chr15:27957628

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438934

rs_61751032

4 SubmittersRCV000959176 RCV001116701

NM_000275.3(OCA2):c.2043C>G (p.Thr681=)

SNV
Germline

Chr15:27926163

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438789

rs_368126732

4 SubmittersRCV000933522 RCV001121580

NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)

SNV
Germline

Chr15:27845032

Pathogenic/Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Albinism or congenital nystagmus

Criteria Provided
Multiple Submitters
No Conflicts

CA7438598

rs_142988897

13 SubmittersRCV000989277 RCV001869361 RCV002497282 RCV003461297 RCV006261989

NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)

SNV
Germline

Chr15:27851396

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA267845036

rs_987780496

6 SubmittersRCV001048856 RCV003128258 RCV003467756 RCV005012483

NM_002386.4(MC1R):c.23G>A (p.Arg8Lys)

SNV
Germline

Chr16:89919281

Conflicting classifications of pathogenicity

Melanoma, cutaneous malignant, susceptibility to, 5
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA8255461

rs_554831935

2 SubmittersRCV001035943 RCV005394657

NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)

SNV
Germline

Chr15:27844979

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438581

rs_747340554

2 SubmittersRCV001116588 RCV002069880

NM_000275.3(OCA2):c.2361G>A (p.Ala787=)

SNV
Germline

Chr15:27845030

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438596

rs_763462686

2 SubmittersRCV001118035 RCV002069905

NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr)

SNV
Germline

Chr15:27851424

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438650

rs_144064082

2 SubmittersRCV001118036 RCV002069906

NM_000275.3(OCA2):c.2229G>A (p.Pro743=)

SNV
Germline

Chr15:27871169

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438706

rs_41307118

2 SubmittersRCV001119573 RCV002069941

NM_000275.3(OCA2):c.2169C>T (p.Ala723=)

SNV
Germline

Chr15:27871229

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438717

rs_370020051

2 SubmittersRCV001119576 RCV002069942

NM_000275.3(OCA2):c.1864C>T (p.Leu622=)

SNV
Germline

Chr15:27951871

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438865

rs_543493041

2 SubmittersRCV001121582 RCV002069975

NM_000275.3(OCA2):c.1857C>T (p.Asp619=)

SNV
Germline

Chr15:27951878

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
not specified
OCA2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7438867

rs_7164127

8 SubmittersRCV001121583 RCV001429605 RCV001701288 RCV004743296 RCV005692287

NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)

SNV
Germline

Chr15:27957610

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA7438929

rs_150711896

5 SubmittersRCV001116700 RCV001515895 RCV005626334

NM_000275.3(OCA2):c.1656C>T (p.His552=)

SNV
Germline

Chr15:27957716

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438955

rs_777131634

2 SubmittersRCV001116703 RCV002069885

NM_000275.3(OCA2):c.1560C>A (p.Leu520=)

SNV
Germline

Chr15:27966766

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7438990

rs_140932222

4 SubmittersRCV001116705 RCV001519425

NM_000275.3(OCA2):c.1479T>G (p.Val493=)

SNV
Germline

Chr15:27983369

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439029

rs_374434751

3 SubmittersRCV001118145 RCV001515035

NM_000275.3(OCA2):c.1336A>G (p.Met446Val)

SNV
Germline

Chr15:27985092

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
not specified
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA7439079

rs_140566426

5 SubmittersRCV001119693 RCV002069944 RCV003235472 RCV006275880

NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)

SNV
Germline

Chr15:27989623

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA7439186

rs_150335311

5 SubmittersRCV001121677 RCV001327248 RCV005012577

NM_000275.3(OCA2):c.972C>T (p.Arg324=)

SNV
Germline

Chr15:28014848

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439276

rs_368832716

2 SubmittersRCV001116804 RCV002069886

NM_000275.3(OCA2):c.751G>A (p.Val251Met)

SNV
Germline

Chr15:28018453

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
OCA2-related disorder

Criteria Provided
Conflicting Classifications

CA7439369

rs_147432138

4 SubmittersRCV001118259 RCV002069910 RCV003945828

NM_000275.3(OCA2):c.162G>A (p.Gly54=)

SNV
Germline

Chr15:28081713

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA488959875

rs_1391198560

2 SubmittersRCV001119791 RCV003769175

NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)

SNV
Germline

Chr15:28081769

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439579

rs_148066812

5 SubmittersRCV001119793 RCV001760086

NM_000275.3(OCA2):c.1503+7A>T

SNV
Germline

Chr15:27983338

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7439022

rs_199875420

2 SubmittersRCV001118144 RCV002069908

NM_000275.3(OCA2):c.890+1G>A

SNV
Germline

Chr15:28016103

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391365275

rs_2042382744

2 SubmittersRCV001269031 RCV001873596

NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser)

SNV
Unknown

Chr15:27985109

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391360583

rs_2041306355

1 SubmittersRCV001249766

NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)

SNV
Germline

Chr15:27966746

Pathogenic/Likely pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7438983

rs_779850564

6 SubmittersRCV001366949 RCV003462930 RCV003389336 RCV005005212

NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)

SNV
Germline

Chr15:27926223

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA391361326

rs_2140372179

2 SubmittersRCV001532247 RCV003128269

NM_000275.3(OCA2):c.941T>G (p.Val314Gly)

SNV
Germline

Chr15:28014879

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7439288

rs_762262964

3 SubmittersRCV001547300 RCV005005257

NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn)

SNV
Germline

Chr15:27951834

Conflicting classifications of pathogenicity

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438859

rs_200692258

6 SubmittersRCV001553116 RCV003470862 RCV004743547 RCV005395071 RCV006457405

NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)

SNV
Germline

Chr15:27985079

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7439078

rs_772019064

10 SubmittersRCV001583207 RCV001810100 RCV003470868 RCV005005262 RCV003910909

NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)

SNV
Germline

Chr15:28016126

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7439321

rs_769408559

6 SubmittersRCV001587029 RCV002477856 RCV003463054

NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)

SNV
Germline

Chr15:28016120

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439320

rs_745573222

6 SubmittersRCV001773844 RCV002471142 RCV003394239 RCV005006014 RCV006457486

NM_000275.3(OCA2):c.1860G>C (p.Gly620=)

SNV
Germline

Chr15:27951875

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA488959701

rs_2140619474

1 SubmittersRCV001797002

NM_000275.3(OCA2):c.1951+1G>C

SNV
Germline

Chr15:27951783

Pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391364232

rs_752727398

1 SubmittersRCV001806445

NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys)

SNV
Germline

Chr15:27957724

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA391366107

rs_2140706418

2 SubmittersRCV001808893

NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro)

SNV
Germline

Chr15:27983404

Conflicting classifications of pathogenicity

Tyrosinase-positive oculocutaneous albinism
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA391359437

rs_2041233832

3 SubmittersRCV002049748 RCV002543442 RCV005409027

NM_000275.3(OCA2):c.41C>T (p.Ala14Val)

SNV
Germline

Chr15:28081834

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7439611

rs_763734477

3 SubmittersRCV001905699 RCV002503488 RCV004041379

NM_000275.3(OCA2):c.2338+1G>T

SNV
Germline

Chr15:27851381

Pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7438633

rs_770635415

4 SubmittersRCV001950284 RCV003464272 RCV005006277

NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)

SNV
Germline

Chr15:27989605

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7439181

rs_749661379

6 SubmittersRCV001884356 RCV004017879 RCV005006159

NM_000275.3(OCA2):c.1504-2A>G

SNV
Germline

Chr15:27966824

Pathogenic/Likely pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7439006

rs_752460023

4 SubmittersRCV001886910 RCV003471002 RCV005002635

NM_000275.3(OCA2):c.403G>T (p.Glu135Ter)

SNV
Germline

Chr15:28027983

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA267887422

rs_959570803

3 SubmittersRCV001943586 RCV005002672 RCV006558038

NM_000275.3(OCA2):c.493C>T (p.Arg165Ter)

SNV
Germline

Chr15:28027893

Pathogenic/Likely pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA391361797

rs_2141347507

4 SubmittersRCV001990017 RCV003471112 RCV006275890

NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)

SNV
Germline

Chr15:27990616

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7439225

rs_200398581

5 SubmittersRCV001993111 RCV003128278 RCV003471115

NM_000275.3(OCA2):c.2244+1G>A

SNV
Germline

Chr15:27871153

Pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA391363321

rs_868098120

2 SubmittersRCV001942988 RCV003232462

NM_000275.3(OCA2):c.1842+2T>C

SNV
Germline

Chr15:27955156

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA391365122

rs_1226502822

3 SubmittersRCV001956266 RCV002274238 RCV005008307

NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)

SNV
Germline

Chr15:27957673

Conflicting classifications of pathogenicity

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA7438940

rs_779086242

4 SubmittersRCV001912267 RCV004571494 RCV006275887

NM_000275.3(OCA2):c.1328T>C (p.Val443Ala)

SNV
Germline

Chr15:27985100

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA391360562

rs_1325388159

2 SubmittersRCV002023760 RCV005397276

NM_000275.3(OCA2):c.2497G>A (p.Val833Met)

SNV
Germline

Chr15:27755408

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7438552

rs_200396611

2 SubmittersRCV002104249 RCV005397325

NM_000275.3(OCA2):c.914G>A (p.Arg305Gln)

SNV
Germline

Chr15:28014906

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Conflicting Classifications

CA7439294

rs_141603023

2 SubmittersRCV002093618 RCV003339923

NM_000275.3(OCA2):c.797G>A (p.Arg266Gln)

SNV
Germline

Chr15:28018407

Conflicting classifications of pathogenicity

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

CA7439354

rs_774460527

2 SubmittersRCV002165348 RCV006275894

NM_000275.3(OCA2):c.646+1G>T

SNV
Germline

Chr15:28022500

Pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391366950

rs_1046172334

1 SubmittersRCV002274285

NM_000275.3(OCA2):c.1365-1G>A

SNV
Germline

Chr15:27983484

Pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391359987

rs_2140965742

2 SubmittersRCV002274286 RCV003718468

NM_000275.3(OCA2):c.515+1G>A

SNV
Germline

Chr15:28027870

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7439479

rs_774784508

2 SubmittersRCV002283622 RCV003688958

NM_000275.3(OCA2):c.808-3C>G

SNV
Germline

Chr15:28016189

Pathogenic

Tyrosinase-positive oculocutaneous albinism
OCA2-related disorder
Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA616713483

rs_1169783208

4 SubmittersRCV002284014 RCV003408208 RCV003560928 RCV003471311

NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)

SNV
Germline

Chr15:27755472

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7438560

rs_779382711

2 SubmittersRCV003058449 RCV003128321

NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)

SNV
Germline

Chr15:27871240

Pathogenic/Likely pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7438721

rs_141545475

5 SubmittersRCV003041213 RCV004572732 RCV004744541 RCV005002929

NM_000275.3(OCA2):c.1951+1G>A

SNV
Germline

Chr15:27951783

Pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7438851

rs_752727398

3 SubmittersRCV003064240 RCV003459729 RCV004782995

NM_000275.3(OCA2):c.2159G>A (p.Arg720His)

SNV
Germline

Chr15:27871239

Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7438720

rs_776631782

4 SubmittersRCV003061606 RCV005010961

NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)

SNV
Germline

Chr15:27957658

Pathogenic/Likely pathogenic

Condition: not provided
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA7438939

rs_374415755

3 SubmittersRCV002585444 RCV003465971 RCV005011020

NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)

SNV
Germline

Chr15:27983430

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA267890284

rs_781118824

2 SubmittersRCV002861944 RCV005002891

NM_000275.3(OCA2):c.1045-10T>G

SNV
Germline

Chr15:27990657

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA2580089184

rs_2548363796

1 SubmittersRCV003128358

NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)

SNV
Germline

Chr15:27951861

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391364504

rs_2506400245

1 SubmittersRCV003128359

NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)

SNV
Germline

Chr15:27957594

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391365541

rs_2506575769

1 SubmittersRCV003128361

NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)

SNV
Germline

Chr15:27983367

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA267890242

rs_370239668

1 SubmittersRCV003128362

NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)

SNV
Germline

Chr15:27871913

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA7438756

rs_771063630

1 SubmittersRCV003128363

NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)

SNV
Germline

Chr15:27990628

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391362403

rs_570914443

1 SubmittersRCV003128364

NM_000275.3(OCA2):c.1116+6T>C

SNV
Germline

Chr15:27990570

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA2575653212

rs_2548363238

1 SubmittersRCV003128365

NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)

SNV
Germline

Chr15:27871182

Likely pathogenic

Oculocutaneous albinism
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA267859829

rs_780628028

5 SubmittersRCV003317723 RCV003561291 RCV005003054 RCV004572919 RCV004741589

NM_000275.3(OCA2):c.1951+1215G>T

SNV
Germline

Chr15:27950569

Pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA267879261

rs_1004064327

1 SubmittersRCV003443472

NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)

SNV
Germline

Chr15:28027980

Pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided
Hypophosphatasia
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7439501

rs_201791790

6 SubmittersRCV003463221 RCV003553961 RCV004540683 RCV004526261 RCV005012963 RCV005871178

NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)

SNV
Germline

Chr15:27983422

Pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided
Tyrosinase-positive oculocutaneous albinism
Oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA391359535

rs_2548339234

4 SubmittersRCV003463225 RCV003553962 RCV004796813 RCV005240776

NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)

SNV
Germline

Chr15:27955168

Pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided
Oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA7438893

rs_766188851

4 SubmittersRCV003471626 RCV003732594 RCV004765847 RCV005636940

NM_000275.3(OCA2):c.2244+2T>G

SNV
Germline

Chr15:27871152

Pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA391363319

rs_1338085924

2 SubmittersRCV003471629 RCV005012964

NM_000275.3(OCA2):c.1240-1G>T

SNV
Germline

Chr15:27985189

Pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

CA391360738

rs_2548345877

1 SubmittersRCV003485992

NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)

SNV
Germline

Chr15:27755414

Pathogenic/Likely pathogenic

Condition: not provided
Oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Multiple Submitters
No Conflicts

CA268293927

rs_183101063

3 SubmittersRCV003557842 RCV004690434 RCV005003669

NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)

SNV
Germline

Chr15:27871203

Pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA391363417

rs_2036558249

2 SubmittersRCV003727143 RCV004796841

NM_000275.3(OCA2):c.1970G>T (p.Gly657Val)

SNV
Germline

Chr15:27926236

Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

CA391361384

rs_957981838

2 SubmittersRCV003734648 RCV006249901

NM_000275.3(OCA2):c.2433-22889T>A

SNV
Germline

Chr15:27778361

Pathogenic/Likely pathogenic

Condition: not provided
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005433517 RCV004798069

NM_000275.3(OCA2):c.2080-158A>G

SNV
Germline

Chr15:27872080

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV004798070

NM_000275.3(OCA2):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr15:28032075

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Multiple Submitters
No Conflicts

rs_2042921188

3 SubmittersRCV004574415 RCV005003768 RCV005254912

NM_000275.3(OCA2):c.631C>T (p.Pro211Ser)

SNV
Germline

Chr15:28022516

Conflicting classifications of pathogenicity

not specified
Tyrosinase-positive oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004699905 RCV005006500

NM_000275.3(OCA2):c.2244+1G>C

SNV
Unknown

Chr15:27871153

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV004720556

NM_000275.3(OCA2):c.2479T>C (p.Tyr827His)

SNV
Germline

Chr15:27755426

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005009421

NM_000275.3(OCA2):c.2432G>A (p.Arg811Lys)

SNV
Germline

Chr15:27844959

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005005720

NM_000275.3(OCA2):c.2251G>A (p.Val751Met)

SNV
Germline

Chr15:27851469

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005009422

NM_000275.3(OCA2):c.1675C>T (p.Gln559Ter)

SNV
Germline

Chr15:27957697

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005009425

NM_000275.3(OCA2):c.988C>T (p.Gln330Ter)

SNV
Germline

Chr15:28014832

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005005728

NM_000275.3(OCA2):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:28081874

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005005732

NM_000275.3(OCA2):c.1250T>C (p.Leu417Pro)

SNV
Germline

Chr15:27985178

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV006275922

NM_000275.3(OCA2):c.1982T>A (p.Leu661Ter)

SNV
Unknown

Chr15:27926224

Pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV006275923

NM_000275.3(OCA2):c.2032G>A (p.Glu678Lys)

SNV
Germline

Chr15:27926174

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV006275924

NM_000275.3(OCA2):c.2050T>G (p.Phe684Val)

SNV
Germline

Chr15:27926156

Likely pathogenic

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV006275925

NM_000275.3(OCA2):c.1081C>G (p.Leu361Val)

SNV
Germline

Chr15:27990611

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005629898

NM_000275.3(OCA2):c.2063T>C (p.Leu688Pro)

SNV
Germline

Chr15:27926143

Pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV005860826

NM_000275.3(OCA2):c.2338G>A (p.Gly780Ser)

SNV
Germline

Chr15:27851382

Likely pathogenic

Tyrosinase-positive oculocutaneous albinism

Criteria Provided
Single Submitter

1 SubmittersRCV006259812