ClinVar for MedGen (Select 82810) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25746991.	NM_000275.3(OCA2):c.808-1_817del GRCh37: Chr15:28261323-28261333 GRCh38: Chr15:28016177-28016187	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 25739982.	NM_000275.3(OCA2):c.808_817del (p.Val270fs) GRCh37: Chr15:28261323-28261332 GRCh38: Chr15:28016177-28016186	OCA2	V270fs	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 24302393.	NM_000275.3(OCA2):c.1116+6T>C GRCh37: Chr15:28235716 GRCh38: Chr15:27990570	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 24302384.	NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu) GRCh37: Chr15:28235774 GRCh38: Chr15:27990628	OCA2	A355E	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 24302375.	NM_000275.3(OCA2):c.2089C>T (p.His697Tyr) GRCh37: Chr15:28117059 GRCh38: Chr15:27871913	OCA2	H673Y, H697Y	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 24302366.	NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe) GRCh37: Chr15:28228513 GRCh38: Chr15:27983367	OCA2	S470F, S494F	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 24302357.	NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser) GRCh37: Chr15:28202740 GRCh38: Chr15:27957594	OCA2	F569S, F593S	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 24302348.	NM_000275.3(OCA2):c.516-3C>A GRCh37: Chr15:28270051 GRCh38: Chr15:28024905	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance	criteria provided, single submitter
Select item 24302339.	NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg) GRCh37: Chr15:28197007 GRCh38: Chr15:27951861	OCA2	K601R, K625R	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 243023210.	NM_000275.3(OCA2):c.1045-10T>G GRCh37: Chr15:28235803 GRCh38: Chr15:27990657	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	criteria provided, single submitter
Select item 215222011.	NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1]) GRCh37: Chr15:28235735-28235743 GRCh38: Chr15:27990589-27990597	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Jul 15, 2022)	criteria provided, conflicting interpretations
Select item 213762212.	NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser) GRCh37: Chr15:28000618 GRCh38: Chr15:27755472	OCA2	R787S, R811S	Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Jun 2, 2022)	criteria provided, conflicting interpretations
Select item 180591813.	NM_000275.3(OCA2):c.1248dup (p.Leu417fs) GRCh37: Chr15:28230325-28230326 GRCh38: Chr15:27985179-27985180	OCA2	L393fs, L417fs	Tyrosinase-positive oculocutaneous albinism	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 170974214.	NM_000275.3(OCA2):c.2404dup (p.Tyr802fs) GRCh37: Chr15:28090132-28090133 GRCh38: Chr15:27844986-27844987	OCA2	Y778fs, Y802fs	not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 170573715.	NM_000275.3(OCA2):c.1952-7T>G GRCh37: Chr15:28171407 GRCh38: Chr15:27926261	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170570016.	NM_000275.3(OCA2):c.808-3C>G GRCh37: Chr15:28261335 GRCh38: Chr15:28016189	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170544417.	NM_000275.3(OCA2):c.163dup (p.Ala55fs) GRCh37: Chr15:28326857-28326858 GRCh38: Chr15:28081711-28081712	OCA2	A55fs	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170530818.	NM_000275.3(OCA2):c.515+1G>A GRCh37: Chr15:28273016 GRCh38: Chr15:28027870	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170440819.	NM_000275.3(OCA2):c.374_375del (p.Glu125fs) GRCh37: Chr15:28273157-28273158 GRCh38: Chr15:28028011-28028012	OCA2	E125fs	not provided, Tyrosinase-positive oculocutaneous albinism	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170002620.	NM_000275.3(OCA2):c.2225dup (p.Phe744fs) GRCh37: Chr15:28116318-28116319 GRCh38: Chr15:27871172-27871173	OCA2	F720fs, F744fs	Tyrosinase-positive oculocutaneous albinism	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 170002521.	NM_000275.3(OCA2):c.1365-1G>A GRCh37: Chr15:28228630 GRCh38: Chr15:27983484	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 170002422.	NM_000275.3(OCA2):c.646+1G>T GRCh37: Chr15:28267646 GRCh38: Chr15:28022500	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 152610923.	NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs) GRCh37: Chr15:28202811-28202812 GRCh38: Chr15:27957665-27957666	OCA2	A546fs, A570fs	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 148371924.	NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) GRCh37: Chr15:28260023 GRCh38: Chr15:28014877	OCA2	P315S	Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1, not provided	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145823525.	NM_000275.3(OCA2):c.1842+2T>C GRCh37: Chr15:28200302 GRCh38: Chr15:27955156	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Pathogenic (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145112326.	NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) GRCh37: Chr15:28235762 GRCh38: Chr15:27990616	OCA2	G359D	not provided, Tyrosinase-positive oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141155827.	NM_000275.3(OCA2):c.2244+1G>A GRCh37: Chr15:28116299 GRCh38: Chr15:27871153	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140790028.	NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) GRCh37: Chr15:28202855 GRCh38: Chr15:27957709	OCA2	R531C, R555C	Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1, not provided	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140421229.	NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) GRCh37: Chr15:28326797 GRCh38: Chr15:28081651	OCA2	G75E	Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1, not provided	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138614730.	NM_000275.3(OCA2):c.41C>T (p.Ala14Val) GRCh37: Chr15:28326980 GRCh38: Chr15:28081834	OCA2	A14V	not provided, Skin/hair/eye pigmentation, variation in, 1, Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134503131.	NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) GRCh37: Chr15:28228550 GRCh38: Chr15:27983404	OCA2	T458P, T482P	not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Mar 9, 2022)	criteria provided, conflicting interpretations
Select item 133367732.	NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys) GRCh37: Chr15:28202870 GRCh38: Chr15:27957724	OCA2	E526K, E550K	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133287133.	NM_000275.3(OCA2):c.1951+1G>C GRCh37: Chr15:28196929 GRCh38: Chr15:27951783	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic	criteria provided, single submitter
Select item 132851834.	NM_000275.3(OCA2):c.1860G>C (p.Gly620=) GRCh37: Chr15:28197021 GRCh38: Chr15:27951875	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 130513435.	NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) GRCh37: Chr15:28261266 GRCh38: Chr15:28016120	OCA2	F292L	not provided, Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126301136.	NM_000275.3(OCA2):c.2244+25C>G GRCh37: Chr15:28116275 GRCh38: Chr15:27871129	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125219537.	NM_000275.3(OCA2):c.1785-47A>G GRCh37: Chr15:28200408 GRCh38: Chr15:27955262	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121664838.	NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) GRCh37: Chr15:28261272 GRCh38: Chr15:28016126	OCA2	R290G	not provided, Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1	Pathogenic/Likely pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121139839.	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) GRCh37: Chr15:28230225 GRCh38: Chr15:27985079	OCA2	T426M, T450M	Tyrosinase-positive oculocutaneous albinism, not provided	Pathogenic/Likely pathogenic (Sep 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117662540.	NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) GRCh37: Chr15:28171369 GRCh38: Chr15:27926223	OCA2	L637F, L661F	not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Apr 1, 2021)	criteria provided, conflicting interpretations
Select item 109872041.	Single allele GRCh37: Chr15:28143225-28339403	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 109871942.	Single allele GRCh37: Chr15:28119923-28339403	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 107040543.	NM_000275.3(OCA2):c.157del (p.Arg53fs) GRCh37: Chr15:28326864 GRCh38: Chr15:28081718	OCA2	R53fs	not provided, Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1, Tyrosinase-positive oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105305244.	NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) GRCh37: Chr16:89985979 GRCh38: Chr16:89919571	MC1R	A105T	Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 2, Increased analgesia from kappa-opioid receptor agonist, female-specific, Melanoma, cutaneous malignant, susceptibility to, 5, Melanoma, cutaneous malignant, susceptibility to, 5	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103071245.	NM_000275.3(OCA2):c.515G>A (p.Arg172Lys) GRCh37: Chr15:28273017 GRCh38: Chr15:28027871	OCA2	R172K	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 101011946.	NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) GRCh37: Chr16:89986469 GRCh38: Chr16:89920061	MC1R	P268R	Melanoma, cutaneous malignant, susceptibility to, 5, Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 2, Increased analgesia from kappa-opioid receptor agonist, female-specific, Melanoma, cutaneous malignant, susceptibility to, 5	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100600347.	NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) GRCh37: Chr15:28261291 GRCh38: Chr15:28016145	OCA2	S283R	Tyrosinase-positive oculocutaneous albinism, not provided, Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98352248.	NM_000275.3(OCA2):c.1657_1675del (p.Val553fs) GRCh37: Chr15:28202843-28202861 GRCh38: Chr15:27957697-27957715	OCA2	V529fs, V553fs	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	no assertion criteria provided
Select item 97331649.	NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser) GRCh37: Chr15:28230255 GRCh38: Chr15:27985109	OCA2	L416S, L440S	Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Feb 28, 2020)	criteria provided, single submitter
Select item 96926250.	NM_002386.4(MC1R):c.577G>A (p.Val193Met) GRCh37: Chr16:89986243 GRCh38: Chr16:89919835	MC1R	V193M	Melanoma, cutaneous malignant, susceptibility to, 5, Tyrosinase-positive oculocutaneous albinism, Increased analgesia from kappa-opioid receptor agonist, female-specific, Melanoma, cutaneous malignant, susceptibility to, 5, Skin/hair/eye pigmentation, variation in, 2	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91672551.	NM_000275.3(OCA2):c.890+1G>A GRCh37: Chr15:28261249 GRCh38: Chr15:28016103	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88840352.	NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) GRCh37: Chr15:28234769 GRCh38: Chr15:27989623	OCA2	T387M, T363M	not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 88840253.	NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) GRCh37: Chr15:28231750 GRCh38: Chr15:27986604	OCA2	D384N, D408N	not provided, Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88834754.	NM_000275.3(OCA2):c.1842+6C>T GRCh37: Chr15:28200298 GRCh38: Chr15:27955152	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88834655.	NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu) GRCh37: Chr15:28197032 GRCh38: Chr15:27951886	OCA2	I593L, I617L	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88834556.	NM_000275.3(OCA2):c.1857C>T (p.Asp619=) GRCh37: Chr15:28197024 GRCh38: Chr15:27951878	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 88834457.	NM_000275.3(OCA2):c.1864C>T (p.Leu622=) GRCh37: Chr15:28197017 GRCh38: Chr15:27951871	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Apr 11, 2022)	criteria provided, conflicting interpretations
Select item 88826858.	NM_000275.3(OCA2):c.*54A>G GRCh37: Chr15:28000480 GRCh38: Chr15:27755334	OCA2		Skin/hair/eye pigmentation, variation in, 1, Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88826759.	NM_000275.3(OCA2):c.*271G>A GRCh37: Chr15:28000263 GRCh38: Chr15:27755117	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88826660.	NM_000275.3(OCA2):c.*367C>G GRCh37: Chr15:28000167 GRCh38: Chr15:27755021	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88826561.	NM_000275.3(OCA2):c.*371G>C GRCh37: Chr15:28000163 GRCh38: Chr15:27755017	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88826462.	NM_000275.3(OCA2):c.*410C>A GRCh37: Chr15:28000124 GRCh38: Chr15:27754978	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88720363.	NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) GRCh37: Chr15:28326915 GRCh38: Chr15:28081769	OCA2	R36C	not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 88720264.	NM_000275.3(OCA2):c.126C>T (p.Ala42=) GRCh37: Chr15:28326895 GRCh38: Chr15:28081749	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88720165.	NM_000275.3(OCA2):c.162G>A (p.Gly54=) GRCh37: Chr15:28326859 GRCh38: Chr15:28081713	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88714366.	NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) GRCh37: Chr15:28230313 GRCh38: Chr15:27985167	OCA2	R397W, R421W	Skin/hair/eye pigmentation, variation in, 1, Tyrosinase-positive oculocutaneous albinism, not provided, Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88714267.	NM_000275.3(OCA2):c.1336A>G (p.Met446Val) GRCh37: Chr15:28230238 GRCh38: Chr15:27985092	OCA2	M422V, M446V	not provided, not specified, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (May 5, 2023)	criteria provided, conflicting interpretations
Select item 88714168.	NM_000275.3(OCA2):c.1337T>C (p.Met446Thr) GRCh37: Chr15:28230237 GRCh38: Chr15:27985091	OCA2	M446T, M422T	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88706869.	NM_000275.3(OCA2):c.2169C>T (p.Ala723=) GRCh37: Chr15:28116375 GRCh38: Chr15:27871229	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 88706770.	NM_000275.3(OCA2):c.2229G>A (p.Pro743=) GRCh37: Chr15:28116315 GRCh38: Chr15:27871169	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (May 21, 2022)	criteria provided, conflicting interpretations
Select item 88619971.	NM_000275.3(OCA2):c.654C>A (p.Asn218Lys) GRCh37: Chr15:28263696 GRCh38: Chr15:28018550	OCA2	N218K	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 88619872.	NM_000275.3(OCA2):c.751G>A (p.Val251Met) GRCh37: Chr15:28263599 GRCh38: Chr15:28018453	OCA2	V251M	not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 88613173.	NM_000275.3(OCA2):c.1479T>G (p.Val493=) GRCh37: Chr15:28228515 GRCh38: Chr15:27983369	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 88613074.	NM_000275.3(OCA2):c.1503+7A>T GRCh37: Chr15:28228484 GRCh38: Chr15:27983338	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 88606875.	NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) GRCh37: Chr15:28096579 GRCh38: Chr15:27851433	OCA2	L739M, L763M	Tyrosinase-positive oculocutaneous albinism, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88606776.	NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr) GRCh37: Chr15:28096570 GRCh38: Chr15:27851424	OCA2	P742T, P766T	Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 88606677.	NM_000275.3(OCA2):c.2361G>A (p.Ala787=) GRCh37: Chr15:28090176 GRCh38: Chr15:27845030	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Mar 29, 2021)	criteria provided, conflicting interpretations
Select item 88529478.	NM_000275.3(OCA2):c.885G>A (p.Leu295=) GRCh37: Chr15:28261255 GRCh38: Chr15:28016109	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88529379.	NM_000275.3(OCA2):c.972C>T (p.Arg324=) GRCh37: Chr15:28259994 GRCh38: Chr15:28014848	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 88529280.	NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr) GRCh37: Chr15:28259939 GRCh38: Chr15:28014793	OCA2	A343T	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88523881.	NM_000275.3(OCA2):c.1560C>A (p.Leu520=) GRCh37: Chr15:28211912 GRCh38: Chr15:27966766	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 88523782.	NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) GRCh37: Chr15:28211841 GRCh38: Chr15:27966695	OCA2	I544T, I520T	Tyrosinase-positive oculocutaneous albinism, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88523683.	NM_000275.3(OCA2):c.1656C>T (p.His552=) GRCh37: Chr15:28202862 GRCh38: Chr15:27957716	OCA2		Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 88523584.	NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) GRCh37: Chr15:28202756 GRCh38: Chr15:27957610	OCA2	R564W, R588W	Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 88523485.	NM_000275.3(OCA2):c.1784+6G>A GRCh37: Chr15:28202728 GRCh38: Chr15:27957582	OCA2		Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88516086.	NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu) GRCh37: Chr15:28090125 GRCh38: Chr15:27844979	OCA2	F804L, F780L	Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations
Select item 88515987.	NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp) GRCh37: Chr15:28000613 GRCh38: Chr15:27755467	OCA2	G789D, G813D	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 84573588.	NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) GRCh37: Chr15:28096542 GRCh38: Chr15:27851396	OCA2	G751D, G775D	Tyrosinase-positive oculocutaneous albinism, not provided	Pathogenic/Likely pathogenic (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80306089.	NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) GRCh37: Chr15:28090178 GRCh38: Chr15:27845032	OCA2	A763T, A787T	Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1, not provided, Tyrosinase-positive oculocutaneous albinism	Pathogenic/Likely pathogenic (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77852090.	NM_000275.3(OCA2):c.1744C>T (p.Leu582=) GRCh37: Chr15:28202774 GRCh38: Chr15:27957628	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 75605191.	NM_000275.3(OCA2):c.2043C>G (p.Thr681=) GRCh37: Chr15:28171309 GRCh38: Chr15:27926163	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 66832392.	NM_000275.3(OCA2):c.2245-6C>A GRCh37: Chr15:28096627 GRCh38: Chr15:27851481	OCA2		not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 63481693.	NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del GRCh37: Chr15:28260053-28266235	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic	criteria provided, single submitter
Select item 63222694.	NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) GRCh37: Chr15:28202819 GRCh38: Chr15:27957673	OCA2	E567, E543	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Jan 30, 2018)	criteria provided, single submitter
Select item 63222595.	NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) GRCh37: Chr15:28116343 GRCh38: Chr15:27871197	OCA2	L734R, L710R	Tyrosinase-positive oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2023)	criteria provided, conflicting interpretations
Select item 63172496.	NM_000275.3(OCA2):c.681del (p.Leu228fs) GRCh37: Chr15:28263669 GRCh38: Chr15:28018523	OCA2	L228fs	Tyrosinase-positive oculocutaneous albinism	Uncertain significance (Dec 8, 2018)	criteria provided, single submitter
Select item 63172397.	NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) GRCh37: Chr15:28230211 GRCh38: Chr15:27985065	OCA2	R455G, R431G	not specified, Tyrosinase-positive oculocutaneous albinism, Skin/hair/eye pigmentation, variation in, 1, not provided, Tyrosinase-positive oculocutaneous albinism	Conflicting interpretations of pathogenicity (Feb 14, 2023)	criteria provided, conflicting interpretations
Select item 62760798.	NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del GRCh37: Chr15:28096556-28116982 GRCh38: Chr15:27851410-27871836	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic (Mar 26, 2019)	no assertion criteria provided
Select item 62760699.	NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del GRCh37: Chr15:28231692-28235802 GRCh38: Chr15:27986546-27990656	OCA2		Tyrosinase-positive oculocutaneous albinism	Pathogenic (Mar 26, 2019)	no assertion criteria provided
Select item 627605100.	NM_000275.3(OCA2):c.1637-2A>G GRCh37: Chr15:28202883 GRCh38: Chr15:27957737	OCA2		Tyrosinase-positive oculocutaneous albinism	Likely pathogenic (Mar 26, 2019)	no assertion criteria provided

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