NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755085]|not provided [RCV000520462] |
Chr15:27990617 [GRCh38] Chr15:28235763 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
Single allele |
deletion |
Prader-Willi syndrome [RCV000520873] |
Chr15:23707435..28520316 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
nsv1197574 |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000023893] |
Chr15:27874792..28058639 [GRCh38] Chr15:28119938..28303785 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA |
deletion |
Brown oculocutaneous albinism [RCV000001003]|Tyrosinase-positive oculocutaneous albinism [RCV000001002] |
Chr15:28018397..28018557 [GRCh38] Chr15:28263543..28263703 [GRCh37] Chr15:15q13.1 |
pathogenic |
OCA2, IVS1, HAPLOTYPE 1 |
variation |
Skin/hair/eye pigmentation, variation in, 1 [RCV000001015] |
Chr15:15q11.2-q12 |
pathogenic|association|affects |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000050782] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1842+1G>T |
single nucleotide variant |
Oculocutaneous albinism [RCV003323345]|Tyrosinase-positive oculocutaneous albinism [RCV000001004]|not provided [RCV001851521] |
Chr15:27955157 [GRCh38] Chr15:28200303 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000001005]|not provided [RCV000487934]|not specified [RCV000251919] |
Chr15:27983407 [GRCh38] Chr15:28228553 [GRCh37] Chr15:15q13.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000623104]|OCA2-related condition [RCV003415611]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466772]|See cases [RCV002251850]|Tyrosinase-positive oculocutaneous albinism [RCV000001006]|Tyrosinase-positive oculocutaneous albinism [RCV000477815]|not provided [RCV000310636] |
Chr15:27985101 [GRCh38] Chr15:28230247 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755092]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003460401]|Tyrosinase-positive oculocutaneous albinism [RCV000001007]|Tyrosinase-positive oculocutaneous albinism [RCV000762938]|not provided [RCV000481371] |
Chr15:27871170 [GRCh38] Chr15:28116316 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1960del (p.Ala654fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000001008] |
Chr15:27926246 [GRCh38] Chr15:28171392 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466773]|Tyrosinase-positive oculocutaneous albinism [RCV000001009]|not provided [RCV001851522] |
Chr15:28014819 [GRCh38] Chr15:28259965 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NG_009846.1:g.103171_225796del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000001010] |
Chr15:27878517..28001142 [GRCh38] Chr15:28123663..28246288 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) |
single nucleotide variant |
Oculocutaneous albinism [RCV003317027]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV001262139]|Tyrosinase-positive oculocutaneous albinism [RCV000001011]|not provided [RCV001093225] |
Chr15:27926169 [GRCh38] Chr15:28171315 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) |
single nucleotide variant |
OCA2-related condition [RCV003421891]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466774]|Tyrosinase-positive oculocutaneous albinism [RCV000001012]|Tyrosinase-positive oculocutaneous albinism [RCV000762940]|not provided [RCV000413429] |
Chr15:27983383 [GRCh38] Chr15:28228529 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000001013]|Tyrosinase-positive oculocutaneous albinism [RCV000312067]|Tyrosinase-positive oculocutaneous albinism [RCV002490287]|not provided [RCV001522992]|not specified [RCV000180482] |
Chr15:28014907 [GRCh38] Chr15:28260053 [GRCh37] Chr15:15q13.1 |
pathogenic|association|affects|benign|likely benign |
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV000001014]|Tyrosinase-positive oculocutaneous albinism [RCV000397427]|not provided [RCV001521859]|not specified [RCV000252408] |
Chr15:27985172 [GRCh38] Chr15:28230318 [GRCh37] Chr15:15q13.1 |
pathogenic|association|affects|benign|likely benign |
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000001016] |
Chr15:27989601 [GRCh38] Chr15:28234747 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.2(OCA2):c.2245-4000T>G |
single nucleotide variant |
Lung cancer [RCV000099398] |
Chr15:27855475 [GRCh38] Chr15:28100621 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.2(OCA2):c.1636+4029G>T |
single nucleotide variant |
Lung cancer [RCV000099399] |
Chr15:27962661 [GRCh38] Chr15:28207807 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.2(OCA2):c.228-5876G>C |
single nucleotide variant |
Lung cancer [RCV000099400] |
Chr15:28038039 [GRCh38] Chr15:28283185 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.2(OCA2):c.227+15479G>C |
single nucleotide variant |
Lung cancer [RCV000099401] |
Chr15:28066169 [GRCh38] Chr15:28311315 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] |
Chr15:23319714..28785371 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000050783] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 |
copy number loss |
See cases [RCV000050850] |
Chr15:23411789..28314256 [GRCh38] Chr15:23656936..28557186 [GRCh37] Chr15:21208377..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 |
copy number gain |
See cases [RCV000050557] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 |
copy number loss |
See cases [RCV000050559] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 |
copy number loss |
See cases [RCV000050742] |
Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 |
copy number loss |
See cases [RCV000050733] |
Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 |
copy number loss |
See cases [RCV000051583] |
Chr15:25161216..28190742 [GRCh38] Chr15:25406363..28435888 [GRCh37] Chr15:22957456..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 |
copy number gain |
See cases [RCV000051112] |
Chr15:23319714..32607357 [GRCh38] Chr15:22698522..32899558 [GRCh37] Chr15:20249886..30686850 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000051053] |
Chr15:23319714..28314256 [GRCh38] Chr15:23300238..28557186 [GRCh37] Chr15:20851679..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 |
copy number gain |
See cases [RCV000051813] |
Chr15:23319714..28681287 [GRCh38] Chr15:23510051..28926433 [GRCh37] Chr15:21061492..26725474 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 |
copy number gain |
See cases [RCV000051814] |
Chr15:23320410..28460005 [GRCh38] Chr15:23565551..28812483 [GRCh37] Chr15:21116992..26611524 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 |
copy number gain |
See cases [RCV000051816] |
Chr15:23411589..28446455 [GRCh38] Chr15:23656736..28691601 [GRCh37] Chr15:21208177..26365196 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 |
copy number gain |
See cases [RCV000051818] |
Chr15:23411789..28281294 [GRCh38] Chr15:23656936..28526440 [GRCh37] Chr15:21208377..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] |
Chr15:24780911..29668996 [GRCh38] Chr15:25026058..29961200 [GRCh37] Chr15:22577151..27748492 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 |
copy number loss |
See cases [RCV000052353] |
Chr15:23319714..30109283 [GRCh38] Chr15:22669052..30401486 [GRCh37] Chr15:20220416..28188778 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 |
copy number loss |
See cases [RCV000052355] |
Chr15:23319714..28275308 [GRCh38] Chr15:22698322..28520454 [GRCh37] Chr15:20249686..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000052356] |
Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 |
copy number loss |
See cases [RCV000052357] |
Chr15:23319714..28275167 [GRCh38] Chr15:22698522..28520313 [GRCh37] Chr15:20249886..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 |
copy number loss |
See cases [RCV000052358] |
Chr15:23319714..28197267 [GRCh38] Chr15:22779922..28442413 [GRCh37] Chr15:20331286..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] |
Chr15:23411789..28446314 [GRCh38] Chr15:23656936..28691460 [GRCh37] Chr15:21208377..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 |
copy number loss |
See cases [RCV000052402] |
Chr15:23450287..28446314 [GRCh38] Chr15:23695434..28691460 [GRCh37] Chr15:21246527..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 |
copy number loss |
See cases [RCV000052403] |
Chr15:23462105..28275308 [GRCh38] Chr15:23707252..28520454 [GRCh37] Chr15:21258345..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 |
copy number loss |
See cases [RCV000052406] |
Chr15:23462305..28190742 [GRCh38] Chr15:23707452..28435888 [GRCh37] Chr15:21258545..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 |
copy number loss |
See cases [RCV000052409] |
Chr15:23494211..28281294 [GRCh38] Chr15:23739358..28526440 [GRCh37] Chr15:21290451..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 |
copy number loss |
See cases [RCV000052410] |
Chr15:23537429..28269468 [GRCh38] Chr15:23782576..28514614 [GRCh37] Chr15:21333669..26188209 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 |
copy number loss |
See cases [RCV000052411] |
Chr15:23537429..28275167 [GRCh38] Chr15:23782576..28520313 [GRCh37] Chr15:21333669..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 |
copy number gain |
See cases [RCV000052339] |
Chr15:20002460..30349193 [GRCh38] Chr15:20207713..30641396 [GRCh37] Chr15:18467727..28428688 [NCBI36] Chr15:15q11.1-13.2 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 |
copy number gain |
See cases [RCV000052340] |
Chr15:20002460..32121422 [GRCh38] Chr15:20207713..32413623 [GRCh37] Chr15:18467727..30200915 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 |
copy number loss |
See cases [RCV000052345] |
Chr15:22030646..28694952 [GRCh38] Chr15:22318597..28940098 [GRCh37] Chr15:19819961..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 |
copy number loss |
See cases [RCV000052372] |
Chr15:23337069..28272443 [GRCh38] Chr15:23582216..28517589 [GRCh37] Chr15:21133657..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 |
copy number loss |
See cases [RCV000052374] |
Chr15:23375083..28197267 [GRCh38] Chr15:23620230..28442413 [GRCh37] Chr15:21171671..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 |
copy number loss |
See cases [RCV000052376] |
Chr15:23375083..28272443 [GRCh38] Chr15:23620230..28517589 [GRCh37] Chr15:21171671..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 |
copy number loss |
See cases [RCV000052348] |
Chr15:22144677..30349193 [GRCh38] Chr15:22432628..30641396 [GRCh37] Chr15:19933992..28428688 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 |
copy number gain |
See cases [RCV000052349] |
Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 |
copy number gain |
See cases [RCV000052378] |
Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 |
copy number loss |
See cases [RCV000052379] |
Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 |
copy number loss |
See cases [RCV000052380] |
Chr15:23398620..28446314 [GRCh38] Chr15:23643767..28691460 [GRCh37] Chr15:21195208..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 |
copy number loss |
See cases [RCV000052381] |
Chr15:23411589..28275308 [GRCh38] Chr15:23656736..28520454 [GRCh37] Chr15:21208177..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 |
copy number loss |
See cases [RCV000052350] |
Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 |
copy number gain |
See cases [RCV000052300] |
Chr15:19879749..28918517 [GRCh38] Chr15:20085002..29210720 [GRCh37] Chr15:18345016..26998012 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 |
copy number gain |
See cases [RCV000052301] |
Chr15:19879749..28702163 [GRCh38] Chr15:20085002..28947309 [GRCh37] Chr15:18345016..26746350 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 |
copy number gain |
See cases [RCV000052305] |
Chr15:19879750..27865713 [GRCh38] Chr15:20085003..28178425 [GRCh37] Chr15:18345017..25852020 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 |
copy number gain |
See cases [RCV000052308] |
Chr15:19905469..28163751 [GRCh38] Chr15:20110722..28408897 [GRCh37] Chr15:18370736..26082492 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 |
copy number gain |
See cases [RCV000053207] |
Chr15:20046515..28385894 [GRCh38] Chr15:20251768..28631040 [GRCh37] Chr15:18511782..26304635 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 |
copy number gain |
See cases [RCV000053208] |
Chr15:23319714..32607498 [GRCh38] Chr15:22698322..32899699 [GRCh37] Chr15:20249686..30686991 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698322..28940239 [GRCh37] Chr15:20249686..26739280 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
Renal adysplasia [RCV000053224]|See cases [RCV000053224] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] |
Chr15:23319714..30527306 [GRCh38] Chr15:22698522..30819509 [GRCh37] Chr15:20249886..28606801 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000053229] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000053231] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765428..28940239 [GRCh37] Chr15:20316792..26739280 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 |
copy number gain |
See cases [RCV000053232] |
Chr15:23319714..28275167 [GRCh38] Chr15:22765628..28520313 [GRCh37] Chr15:20316992..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 |
copy number gain |
See cases [RCV000053233] |
Chr15:23319714..30073921 [GRCh38] Chr15:22863854..30366124 [GRCh37] Chr15:20415295..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 |
copy number gain |
See cases [RCV000053234] |
Chr15:23319714..28446455 [GRCh38] Chr15:23300038..28691601 [GRCh37] Chr15:20851479..26365196 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] |
Chr15:23319714..28275308 [GRCh38] Chr15:23300038..28520454 [GRCh37] Chr15:20851479..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000989278]|not provided [RCV001519287]|not specified [RCV000173666] |
Chr15:27990579 [GRCh38] Chr15:28235725 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1752C>T (p.His584=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000369482]|not provided [RCV000971615]|not specified [RCV000174995] |
Chr15:27957620 [GRCh38] Chr15:28202766 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1183-4A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000297280]|not provided [RCV001520081]|not specified [RCV000174232] |
Chr15:27986647 [GRCh38] Chr15:28231793 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+18A>G |
single nucleotide variant |
not provided [RCV001511844]|not specified [RCV000176151] |
Chr15:27871136 [GRCh38] Chr15:28116282 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000305128]|Tyrosinase-positive oculocutaneous albinism [RCV002500486]|not provided [RCV001522990]|not specified [RCV000176255] |
Chr15:27851392 [GRCh38] Chr15:28096538 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.867del (p.Ser289fs) |
deletion |
not provided [RCV000180124] |
Chr15:28016127 [GRCh38] Chr15:28261273 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) |
indel |
OCA2-related condition [RCV003398903]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468873]|Tyrosinase-positive oculocutaneous albinism [RCV000180125]|not provided [RCV000486337] |
Chr15:28016172..28016175 [GRCh38] Chr15:28261318..28261321 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1045-9T>G |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468853]|Tyrosinase-positive oculocutaneous albinism [RCV003128232]|not provided [RCV000173665]|not specified [RCV003150966] |
Chr15:27990656 [GRCh38] Chr15:28235802 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002516597]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462273]|Tyrosinase-positive oculocutaneous albinism [RCV000709815]|not provided [RCV000442309] |
Chr15:27990589 [GRCh38] Chr15:28235735 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000502815]|not provided [RCV000174230] |
Chr15:27986643 [GRCh38] Chr15:28231789 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1239+5G>C |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462277]|Tyrosinase-positive oculocutaneous albinism [RCV000763954]|Tyrosinase-positive oculocutaneous albinism [RCV001797659]|not provided [RCV000724356]|not specified [RCV001818417] |
Chr15:27986582 [GRCh38] Chr15:28231728 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003242997]|not provided [RCV000174233] |
Chr15:27986600 [GRCh38] Chr15:28231746 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000050781] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462278]|Tyrosinase-positive oculocutaneous albinism [RCV001121675]|not provided [RCV000174460] |
Chr15:27985173 [GRCh38] Chr15:28230319 [GRCh37] Chr15:15q13.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 |
copy number gain |
See cases [RCV000053224] |
Chr15:23319714..30361733 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:20249886..28441228 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 |
copy number gain |
See cases [RCV000053230] |
Chr15:23319714..30073921 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:20249886..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 |
copy number loss |
See cases [RCV000134719] |
Chr15:23462288..28694922 [GRCh38] Chr15:23707435..28940068 [GRCh37] Chr15:21258528..26739109 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q12-13.1(chr15:27743987-28275167)x3 |
copy number gain |
See cases [RCV000134166] |
Chr15:27743987..28275167 [GRCh38] Chr15:27989133..28520313 [GRCh37] Chr15:25662728..26193908 [NCBI36] Chr15:15q12-13.1 |
likely benign |
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 |
copy number loss |
See cases [RCV000134437] |
Chr15:23439508..28154050 [GRCh38] Chr15:23684655..28399196 [GRCh37] Chr15:21236096..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 |
copy number loss |
See cases [RCV000134053] |
Chr15:23462288..28275170 [GRCh38] Chr15:23707435..28520316 [GRCh37] Chr15:21258528..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 |
copy number gain |
See cases [RCV000134062] |
Chr15:23319714..28275170 [GRCh38] Chr15:22765637..28520316 [GRCh37] Chr15:20317001..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 |
copy number loss |
See cases [RCV000134074] |
Chr15:23319714..28347620 [GRCh38] Chr15:23353638..28592766 [GRCh37] Chr15:20905079..26266361 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000134082] |
Chr15:22358243..28481444 [GRCh38] Chr15:22652047..28705151 [GRCh37] Chr15:20203411..26524679 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 |
copy number loss |
See cases [RCV000134115] |
Chr15:23462288..28314291 [GRCh38] Chr15:23707435..28557186 [GRCh37] Chr15:21258528..26233032 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 |
copy number loss |
See cases [RCV000135313] |
Chr15:23328044..28154050 [GRCh38] Chr15:22860857..28399196 [GRCh37] Chr15:20412298..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 |
copy number loss |
See cases [RCV000134776] |
Chr15:23410917..28275170 [GRCh38] Chr15:23656064..28520316 [GRCh37] Chr15:21207505..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000134755] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765637..29085888 [GRCh37] Chr15:20317001..26884929 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000134756] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765637..29085888 [GRCh37] Chr15:20317001..26884929 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 |
copy number gain |
See cases [RCV000135743] |
Chr15:23319714..30361733 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:20249886..28441228 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000135744] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 |
copy number gain |
See cases [RCV000135745] |
Chr15:23319714..30073921 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:20249886..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000135860] |
Chr15:23319714..28314256 [GRCh38] Chr15:22698522..28557186 [GRCh37] Chr15:20249886..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q13.1(chr15:28131544-28195559)x1 |
copy number loss |
See cases [RCV000135489] |
Chr15:28131544..28195559 [GRCh37] Chr15:25805139..25869154 [NCBI36] Chr15:15q13.1 |
likely benign |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000135583] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..28940098 [GRCh37] Chr15:20249886..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 |
copy number gain |
See cases [RCV000135505] |
Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 |
copy number gain |
See cases [RCV000135506] |
Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 |
copy number gain |
See cases [RCV000135973] |
Chr15:23319714..30073876 [GRCh38] Chr15:22765637..30366079 [GRCh37] Chr15:20317001..28153371 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 |
copy number loss |
See cases [RCV000135953] |
Chr15:23319714..38089582 [GRCh38] Chr15:22698522..38381783 [GRCh37] Chr15:20249886..36169075 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 |
copy number loss |
See cases [RCV000135892] |
Chr15:23462105..28290061 [GRCh38] Chr15:23707252..28535207 [GRCh37] Chr15:21258345..26208802 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 |
copy number gain |
See cases [RCV000137064] |
Chr15:23462305..28694952 [GRCh38] Chr15:23707452..28940098 [GRCh37] Chr15:21258545..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 |
copy number gain |
See cases [RCV000137099] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28557186 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 |
copy number loss |
See cases [RCV000136950] |
Chr15:23462305..28314256 [GRCh38] Chr15:23707452..28557186 [GRCh37] Chr15:21258545..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 |
copy number gain |
See cases [RCV000137100] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 |
copy number gain |
See cases [RCV000136964] |
Chr15:20480943..30217181 [GRCh38] Chr15:20686196..30509384 [GRCh37] Chr15:18946210..28296676 [NCBI36] Chr15:15q11.1-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 |
copy number loss |
See cases [RCV000136811] |
Chr15:23319714..28280314 [GRCh38] Chr15:22784523..28525460 [GRCh37] Chr15:20335887..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 |
copy number loss |
See cases [RCV000136734] |
Chr15:23454554..28280314 [GRCh38] Chr15:23699701..28525460 [GRCh37] Chr15:21250794..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 |
copy number gain |
See cases [RCV000136752] |
Chr15:23411789..28280314 [GRCh38] Chr15:23656936..28525460 [GRCh37] Chr15:21208377..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 |
copy number gain |
See cases [RCV000137578] |
Chr15:23319714..30361733 [GRCh38] Chr15:22765628..30653936 [GRCh37] Chr15:20316992..28441228 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 |
copy number gain |
See cases [RCV000137630] |
Chr15:23319714..30073921 [GRCh38] Chr15:22765628..30366124 [GRCh37] Chr15:20316992..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 |
copy number gain |
See cases [RCV000137393] |
Chr15:23422864..28280314 [GRCh38] Chr15:23668011..28525460 [GRCh37] Chr15:21219452..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 |
copy number loss |
See cases [RCV000137394] |
Chr15:23422864..28280314 [GRCh38] Chr15:23668011..28525460 [GRCh37] Chr15:21219452..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 |
copy number loss |
See cases [RCV000137270] |
Chr15:23523934..28280314 [GRCh38] Chr15:23769081..28525460 [GRCh37] Chr15:21320174..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000138132] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29006852 [GRCh37] Chr15:20316992..26805893 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000138133] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29006852 [GRCh37] Chr15:20316992..26805893 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000137945] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|likely benign |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 |
copy number loss |
See cases [RCV000137953] |
Chr15:23422864..28314256 [GRCh38] Chr15:23668011..28557186 [GRCh37] Chr15:21219452..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 |
copy number loss |
See cases [RCV000138857] |
Chr15:23462288..28446301 [GRCh38] Chr15:23707435..28691447 [GRCh37] Chr15:21258528..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 |
copy number gain |
See cases [RCV000138530] |
Chr15:23319714..38545325 [GRCh38] Chr15:22765628..38837526 [GRCh37] Chr15:20316992..36624818 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 |
copy number gain |
See cases [RCV000138622] |
Chr15:23319714..32607357 [GRCh38] Chr15:22765637..32899558 [GRCh37] Chr15:20317001..30686850 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 |
copy number loss |
See cases [RCV000138308] |
Chr15:23319714..32384654 [GRCh38] Chr15:22765628..32676855 [GRCh37] Chr15:20316992..30464147 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 |
copy number loss |
See cases [RCV000139335] |
Chr15:23410917..28446301 [GRCh38] Chr15:23656064..28691447 [GRCh37] Chr15:21207505..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 |
copy number gain |
See cases [RCV000139101] |
Chr15:23319714..31175232 [GRCh38] Chr15:22765637..31467435 [GRCh37] Chr15:20317001..29254727 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) |
single nucleotide variant |
Diarrhea [RCV001078137]|Inborn genetic diseases [RCV000624462]|Tyrosinase-positive oculocutaneous albinism [RCV001797661]|not provided [RCV000175395]|not specified [RCV001818421] |
Chr15:27926186 [GRCh38] Chr15:28171332 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 |
copy number gain |
See cases [RCV000139162] |
Chr15:23319714..28446301 [GRCh38] Chr15:23300254..28691447 [GRCh37] Chr15:20851695..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 |
copy number gain |
See cases [RCV000139948] |
Chr15:23328044..28638603 [GRCh38] Chr15:22652060..28883749 [GRCh37] Chr15:20203424..26682790 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 |
copy number loss |
See cases [RCV000139980] |
Chr15:23370621..28289312 [GRCh38] Chr15:23615768..28534458 [GRCh37] Chr15:21167209..26208053 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 |
copy number loss |
See cases [RCV000139986] |
Chr15:23375044..28300209 [GRCh38] Chr15:23620191..28545355 [GRCh37] Chr15:21171632..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000140240] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28940098 [GRCh37] Chr15:20316992..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 |
copy number loss |
See cases [RCV000140454] |
Chr15:23328044..28578576 [GRCh38] Chr15:22770421..28823722 [GRCh37] Chr15:20321785..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 |
copy number loss |
See cases [RCV000139647] |
Chr15:23999707..28314256 [GRCh38] Chr15:24244854..28557186 [GRCh37] Chr15:21795947..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 |
copy number gain |
See cases [RCV000139610] |
Chr15:23319714..32217731 [GRCh38] Chr15:22765637..32509932 [GRCh37] Chr15:20317001..30297224 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q12-13.1(chr15:27713721-28154050)x3 |
copy number gain |
See cases [RCV000141409] |
Chr15:27713721..28154050 [GRCh38] Chr15:27958867..28399196 [GRCh37] Chr15:25632462..26072791 [NCBI36] Chr15:15q12-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000141251] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28976193 [GRCh37] Chr15:20316992..26775234 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000140712] |
Chr15:23319714..28446314 [GRCh38] Chr15:22765628..28691460 [GRCh37] Chr15:20316992..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000140871] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29096442 [GRCh37] Chr15:20316992..26895483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q13.1(chr15:28066147-28076266)x3 |
copy number gain |
See cases [RCV000140615] |
Chr15:28066147..28076266 [GRCh38] Chr15:28311293..28321412 [GRCh37] Chr15:25984888..25995007 [NCBI36] Chr15:15q13.1 |
likely benign |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 |
copy number loss |
See cases [RCV000140888] |
Chr15:23328044..28300209 [GRCh38] Chr15:23286571..28545355 [GRCh37] Chr15:20838012..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 |
copy number gain |
See cases [RCV000140619] |
Chr15:21581401..28332641 [GRCh38] Chr15:22304596..28577787 [GRCh37] Chr15:19805960..26251382 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 |
copy number gain |
See cases [RCV000140622] |
Chr15:23328044..28154050 [GRCh38] Chr15:23569415..28399196 [GRCh37] Chr15:21120856..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 |
copy number gain |
See cases [RCV000140623] |
Chr15:19840581..32621939 [GRCh38] Chr15:20045834..32914140 [GRCh37] Chr15:18305848..30701432 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 |
copy number loss |
See cases [RCV000141946] |
Chr15:23370621..28414765 [GRCh38] Chr15:23615768..28659911 [GRCh37] Chr15:21167209..26333506 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 |
copy number loss |
See cases [RCV000141728] |
Chr15:23370622..28414892 [GRCh38] Chr15:23615769..28660038 [GRCh37] Chr15:21167210..26333633 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 |
copy number loss |
See cases [RCV000141730] |
Chr15:23328044..28836775 [GRCh38] Chr15:22770421..29081921 [GRCh37] Chr15:20321785..26880962 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 |
copy number loss |
See cases [RCV000142069] |
Chr15:23328044..28315123 [GRCh38] Chr15:22770421..28560269 [GRCh37] Chr15:20321785..26233864 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 |
copy number loss |
See cases [RCV000142233] |
Chr15:23328044..28315951 [GRCh38] Chr15:23290786..28561097 [GRCh37] Chr15:20842227..26234692 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 |
copy number loss |
See cases [RCV000142103] |
Chr15:23328044..28464569 [GRCh38] Chr15:22770421..28709715 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 |
copy number loss |
See cases [RCV000142234] |
Chr15:23370621..28578576 [GRCh38] Chr15:23615768..28823722 [GRCh37] Chr15:21167209..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 |
copy number loss |
See cases [RCV000142170] |
Chr15:23375044..28300358 [GRCh38] Chr15:23620191..28545504 [GRCh37] Chr15:21171632..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 |
copy number loss |
See cases [RCV000142132] |
Chr15:23328044..28300358 [GRCh38] Chr15:23286571..28545504 [GRCh37] Chr15:20838012..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 |
copy number loss |
See cases [RCV000142046] |
Chr15:23328044..30077815 [GRCh38] Chr15:23276605..30370018 [GRCh37] Chr15:20828046..28157310 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 |
copy number gain |
See cases [RCV000142854] |
Chr15:23398620..28280314 [GRCh38] Chr15:23643767..28525460 [GRCh37] Chr15:21195208..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000142795] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 |
copy number loss |
See cases [RCV000142766] |
Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000142713] |
Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29085896 [GRCh37] Chr15:20316992..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 |
copy number gain |
See cases [RCV000142791] |
Chr15:23319714..30527306 [GRCh38] Chr15:22765628..30819509 [GRCh37] Chr15:20316992..28606801 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 |
copy number gain |
See cases [RCV000143379] |
Chr15:23328044..30094350 [GRCh38] Chr15:22770421..30386553 [GRCh37] Chr15:20321785..28173845 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 |
copy number loss |
See cases [RCV000143443] |
Chr15:23370622..28389912 [GRCh38] Chr15:23615769..28635058 [GRCh37] Chr15:21167210..26308653 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 |
copy number loss |
See cases [RCV000143183] |
Chr15:23422864..28446314 [GRCh38] Chr15:23668011..28691460 [GRCh37] Chr15:21219452..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 |
copy number loss |
See cases [RCV000143185] |
Chr15:23422864..28460005 [GRCh38] Chr15:23668011..28801348 [GRCh37] Chr15:21219452..26600389 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 |
copy number gain |
See cases [RCV000143291] |
Chr15:23328044..28683584 [GRCh38] Chr15:22770421..28928730 [GRCh37] Chr15:20321785..26727771 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 |
copy number loss |
See cases [RCV000143226] |
Chr15:23328044..30023809 [GRCh38] Chr15:22770422..30316012 [GRCh37] Chr15:20321786..28103304 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 |
copy number loss |
See cases [RCV000143205] |
Chr15:25033869..37204304 [GRCh38] Chr15:25279016..37496505 [GRCh37] Chr15:22830109..35283797 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 |
copy number gain |
See cases [RCV000148084] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 |
copy number loss |
See cases [RCV000143702] |
Chr15:23328044..28294829 [GRCh38] Chr15:22770421..28539975 [GRCh37] Chr15:20321785..26213570 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 |
copy number loss |
See cases [RCV000143744] |
Chr15:23370622..28300209 [GRCh38] Chr15:23615769..28545355 [GRCh37] Chr15:21167210..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 |
copy number gain |
See cases [RCV000148060] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 |
copy number loss |
See cases [RCV000148061] |
Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 |
copy number gain |
See cases [RCV000148062] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 |
copy number gain |
See cases [RCV000143666] |
Chr15:23444168..28277347 [GRCh38] Chr15:23689315..28522493 [GRCh37] Chr15:21240408..26196088 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 |
copy number loss |
See cases [RCV000148063] |
Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 |
copy number gain |
See cases [RCV000143653] |
Chr15:23328044..32151843 [GRCh38] Chr15:23282829..32444044 [GRCh37] Chr15:20834270..30231336 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 |
copy number gain |
See cases [RCV000143479] |
Chr15:23328044..28713633 [GRCh38] Chr15:22770421..28958779 [GRCh37] Chr15:20321785..26757820 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 |
copy number loss |
See cases [RCV000143483] |
Chr15:23328044..28478308 [GRCh38] Chr15:22770421..28723454 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.45G>A (p.Pro15=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001797662]|not provided [RCV000175573] |
Chr15:28081830 [GRCh38] Chr15:28326976 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 |
copy number loss |
See cases [RCV000148195] |
Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 |
copy number loss |
See cases [RCV000148164] |
Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 |
copy number loss |
See cases [RCV000148194] |
Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) |
single nucleotide variant |
OCA2-related condition [RCV003407649]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468858]|Tyrosinase-positive oculocutaneous albinism [RCV000192656]|not provided [RCV000724171]|not specified [RCV000176150] |
Chr15:27871191 [GRCh38] Chr15:28116337 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2273A>G (p.Asp758Gly) |
single nucleotide variant |
not provided [RCV000176256] |
Chr15:27851447 [GRCh38] Chr15:28096593 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118037]|not provided [RCV000176257] |
Chr15:27851427 [GRCh38] Chr15:28096573 [GRCh37] Chr15:15q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) |
single nucleotide variant |
OCA2-related condition [RCV003417701]|Tyrosinase-positive oculocutaneous albinism [RCV001797675]|not provided [RCV000732449]|not specified [RCV000192434] |
Chr15:27989630 [GRCh38] Chr15:28234776 [GRCh37] Chr15:15q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468869]|Tyrosinase-positive oculocutaneous albinism [RCV000604129]|not provided [RCV000179280] |
Chr15:28022554 [GRCh38] Chr15:28267700 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468870]|Tyrosinase-positive oculocutaneous albinism [RCV001797665]|not provided [RCV000179281] |
Chr15:28022515 [GRCh38] Chr15:28267661 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468871]|Tyrosinase-positive oculocutaneous albinism [RCV001118260]|Tyrosinase-positive oculocutaneous albinism [RCV002478597]|not provided [RCV000179741] |
Chr15:28018477 [GRCh38] Chr15:28263623 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) |
single nucleotide variant |
not provided [RCV000180483] |
Chr15:28014805 [GRCh38] Chr15:28259951 [GRCh37] Chr15:15q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) |
single nucleotide variant |
OCA2-related condition [RCV003416081]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468859]|Tyrosinase-positive oculocutaneous albinism [RCV000504183]|not provided [RCV000176361] |
Chr15:27844966 [GRCh38] Chr15:28090112 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000192364] |
Chr15:27983421 [GRCh38] Chr15:28228567 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.2(OCA2):c.647-?_890+?del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000192949] |
|
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755087]|OCA2-related condition [RCV003401054]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462301]|Tyrosinase-positive oculocutaneous albinism [RCV000193262]|not provided [RCV000413048] |
Chr15:27986615 [GRCh38] Chr15:28231761 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1503+5G>A |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468884]|Tyrosinase-positive oculocutaneous albinism [RCV000193557]|Tyrosinase-positive oculocutaneous albinism [RCV000762939]|not provided [RCV000302408] |
Chr15:27983340 [GRCh38] Chr15:28228486 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.2(OCA2):c.647-?_807+?del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000194719] |
|
pathogenic|likely pathogenic |
NC_000015.9:g.(?_23730704)_(28530182_?)del |
deletion |
Angelman syndrome [RCV000191153] |
Chr15:23730704..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003468885]|Tyrosinase-positive oculocutaneous albinism [RCV000193498]|not provided [RCV001853098] |
Chr15:27845047 [GRCh38] Chr15:28090193 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000194788] |
Chr15:27926194 [GRCh38] Chr15:28171340 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 |
copy number gain |
See cases [RCV000240220] |
Chr15:20190548..32917857 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250750] |
Chr15:22833416..28566671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225455] |
Chr15:20044342..28924405 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225563] |
Chr15:25334522..28369712 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225599] |
Chr15:23624148..28790734 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000234789] |
Chr15:27952109..28031884 [GRCh38] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000234793] |
Chr15:27926237 [GRCh38] Chr15:28171383 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1044+1G>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000234803] |
Chr15:28014775 [GRCh38] Chr15:28259921 [GRCh37] Chr15:15q13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 |
copy number gain |
See cases [RCV000239962] |
Chr15:20733395..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 |
copy number gain |
See cases [RCV000511328] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.131del (p.Gly44fs) |
deletion |
Inborn genetic diseases [RCV000622436]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465356]|Tyrosinase-positive oculocutaneous albinism [RCV002282270]|not provided [RCV001860430] |
Chr15:28081744 [GRCh38] Chr15:28326890 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002519877]|OCA2-related condition [RCV003389640]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003469193]|Tyrosinase-positive oculocutaneous albinism [RCV001119694]|not provided [RCV000766763]|not specified [RCV000243597] |
Chr15:27985108 [GRCh38] Chr15:28230254 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116801]|not provided [RCV000891115]|not specified [RCV000246099] |
Chr15:28014794 [GRCh38] Chr15:28259940 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1887G>T (p.Val629=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121581]|not provided [RCV000891114]|not specified [RCV000248422] |
Chr15:27951848 [GRCh38] Chr15:28196994 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1365-15C>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000384672]|not provided [RCV001522291]|not specified [RCV000248563] |
Chr15:27983498 [GRCh38] Chr15:28228644 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 |
copy number loss |
See cases [RCV000240259] |
Chr15:22815306..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000356602]|not provided [RCV001522991]|not specified [RCV000246215] |
Chr15:27926148 [GRCh38] Chr15:28171294 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128240]|not provided [RCV002055034]|not specified [RCV000251019] |
Chr15:27990645 [GRCh38] Chr15:28235791 [GRCh37] Chr15:15q13.1 |
likely pathogenic|likely benign |
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119577]|not provided [RCV000968287]|not specified [RCV000251137] |
Chr15:27871233 [GRCh38] Chr15:28116379 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.144G>A (p.Ser48=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000359561]|not provided [RCV001512158]|not specified [RCV000243919] |
Chr15:28081731 [GRCh38] Chr15:28326877 [GRCh37] Chr15:15q13.1 |
benign|likely benign|uncertain significance |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 |
copy number gain |
See cases [RCV000240538] |
Chr15:20190548..32386089 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116803]|not provided [RCV000891116]|not specified [RCV000241894] |
Chr15:28014813 [GRCh38] Chr15:28259959 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1952-16A>G |
single nucleotide variant |
not provided [RCV001519053]|not specified [RCV000254221] |
Chr15:27926270 [GRCh38] Chr15:28171416 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3 |
copy number gain |
See cases [RCV000240575] |
Chr15:25583931..32418279 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000275.3(OCA2):c.999C>T (p.Ile333=) |
single nucleotide variant |
not provided [RCV002057333]|not specified [RCV000242109] |
Chr15:28014821 [GRCh38] Chr15:28259967 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119575]|not provided [RCV000953542]|not specified [RCV000254514] |
Chr15:27871190 [GRCh38] Chr15:28116336 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1117-17T>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001797695]|not provided [RCV001341989]|not specified [RCV000242468] |
Chr15:27989683 [GRCh38] Chr15:28234829 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000401705]|not provided [RCV001514650]|not specified [RCV000242650] |
Chr15:27845027 [GRCh38] Chr15:28090173 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000259507]|not provided [RCV001521179]|not specified [RCV000245098] |
Chr15:27951891 [GRCh38] Chr15:28197037 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118258]|Tyrosinase-positive oculocutaneous albinism [RCV002500858]|not provided [RCV000948946]|not specified [RCV000247649] |
Chr15:28018408 [GRCh38] Chr15:28263554 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000402284]|not provided [RCV001520082]|not specified [RCV000243007] |
Chr15:27990627 [GRCh38] Chr15:28235773 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128241]|not provided [RCV001854952]|not specified [RCV000247981] |
Chr15:27990612 [GRCh38] Chr15:28235758 [GRCh37] Chr15:15q13.1 |
likely pathogenic|likely benign|uncertain significance |
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000333850]|not provided [RCV001520080]|not specified [RCV000248067] |
Chr15:27966775 [GRCh38] Chr15:28211921 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 |
copy number loss |
See cases [RCV000240502] |
Chr15:22698522..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1842+17C>T |
single nucleotide variant |
not provided [RCV001519321]|not specified [RCV000253095] |
Chr15:27955141 [GRCh38] Chr15:28200287 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000270433]|not provided [RCV001820933] |
Chr15:27983395 [GRCh38] Chr15:28228541 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000274083] |
Chr15:27966773 [GRCh38] Chr15:28211919 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000366803]|not provided [RCV000953694]|not specified [RCV000387183] |
Chr15:28018482 [GRCh38] Chr15:28263628 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000264722]|not provided [RCV002520940] |
Chr15:28081790 [GRCh38] Chr15:28326936 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) |
single nucleotide variant |
not provided [RCV000293261] |
Chr15:27926252 [GRCh38] Chr15:28171398 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) |
single nucleotide variant |
not provided [RCV001518118]|not specified [RCV000302507] |
Chr15:28081838 [GRCh38] Chr15:28326984 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.588A>C (p.Leu196=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000268924] |
Chr15:28022559 [GRCh38] Chr15:28267705 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) |
copy number loss |
Angelman syndrome [RCV002280757] |
Chr15:23615768..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) |
copy number loss |
Angelman syndrome [RCV002280759] |
Chr15:23285775..30386399 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) |
copy number loss |
Angelman syndrome [RCV002280760] |
Chr15:22770421..29855014 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) |
copy number loss |
Angelman syndrome [RCV002280761] |
Chr15:23689315..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) |
copy number gain |
15q11q13 microduplication syndrome [RCV003319585] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000275.3(OCA2):c.941T>G (p.Val314Gly) |
single nucleotide variant |
not provided [RCV001547300] |
Chr15:28014879 [GRCh38] Chr15:28260025 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 |
copy number loss |
not provided [RCV002292908] |
Chr15:20739497..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2432+11A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000344849]|not provided [RCV001519726] |
Chr15:27844948 [GRCh38] Chr15:28090094 [GRCh37] Chr15:15q13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.594G>A (p.Pro198=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000363514]|not provided [RCV002520939] |
Chr15:28022553 [GRCh38] Chr15:28267699 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.*300T>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000293082] |
Chr15:27755088 [GRCh38] Chr15:28000234 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.666C>T (p.His222=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000401824]|not provided [RCV002056446] |
Chr15:28018538 [GRCh38] Chr15:28263684 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.*50A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000384000] |
Chr15:27755338 [GRCh38] Chr15:28000484 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000275.3(OCA2):c.*166C>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000350393] |
Chr15:27755222 [GRCh38] Chr15:28000368 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1504-12_1504-9del |
deletion |
Oculocutaneous albinism [RCV000388291] |
Chr15:27966831..27966834 [GRCh38] Chr15:28211977..28211980 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2145C>G (p.Val715=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000390523]|not provided [RCV002056445] |
Chr15:27871253 [GRCh38] Chr15:28116399 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.*21G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000287571] |
Chr15:27755367 [GRCh38] Chr15:28000513 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1785-7C>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000298353]|not provided [RCV001452945] |
Chr15:27955222 [GRCh38] Chr15:28200368 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.48G>A (p.Ala16=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000324522]|not provided [RCV002056447] |
Chr15:28081827 [GRCh38] Chr15:28326973 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000339181] |
Chr15:27851398 [GRCh38] Chr15:28096544 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000299479]|not provided [RCV001850668]|not specified [RCV003235189] |
Chr15:27871922 [GRCh38] Chr15:28117068 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000325523] |
Chr15:27983478 [GRCh38] Chr15:28228624 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000340647] |
Chr15:27985076 [GRCh38] Chr15:28230222 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000341602]|not provided [RCV001850669] |
Chr15:27985125 [GRCh38] Chr15:28230271 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000376573]|not provided [RCV000909108] |
Chr15:27985102 [GRCh38] Chr15:28230248 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1364+4C>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000290205]|not provided [RCV002061174] |
Chr15:27985060 [GRCh38] Chr15:28230206 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.648C>T (p.Ser216=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000313394] |
Chr15:28018556 [GRCh38] Chr15:28263702 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.216C>G (p.Leu72=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000328135]|not provided [RCV001444413] |
Chr15:28081659 [GRCh38] Chr15:28326805 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.-109T>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000379033] |
Chr15:28099311 [GRCh38] Chr15:28344457 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.*1T>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116586]|not provided [RCV000592699] |
Chr15:27755387 [GRCh38] Chr15:28000533 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) |
deletion |
OCA2-related condition [RCV003424163]|Tyrosinase-positive oculocutaneous albinism [RCV001797757]|not provided [RCV000592782] |
Chr15:27871217..27871221 [GRCh38] Chr15:28116363..28116367 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755088]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459475]|Tyrosinase-positive oculocutaneous albinism [RCV001797758]|not provided [RCV000596631]|not specified [RCV003235306] |
Chr15:27985106 [GRCh38] Chr15:28230252 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.440dup (p.Ser148fs) |
duplication |
not provided [RCV000414559] |
Chr15:28027945..28027946 [GRCh38] Chr15:28273091..28273092 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) |
single nucleotide variant |
not provided [RCV000732984] |
Chr15:27951860 [GRCh38] Chr15:28197006 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) |
single nucleotide variant |
Albinism [RCV000415383]|OCA2-related condition [RCV003401404]|Oculocutaneous albinism [RCV003155175]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470362]|Tyrosinase-positive oculocutaneous albinism [RCV001116802]|not provided [RCV001574644] |
Chr15:28014795 [GRCh38] Chr15:28259941 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) |
deletion |
OCA2-related condition [RCV003418094]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463816]|Tyrosinase-positive oculocutaneous albinism [RCV001797713]|Tyrosinase-positive oculocutaneous albinism [RCV002480264]|not provided [RCV000413670] |
Chr15:28022511..28022528 [GRCh38] Chr15:28267657..28267674 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000275.3(OCA2):c.1045-15T>G |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755082]|Tyrosinase-positive oculocutaneous albinism [RCV002250689]|not provided [RCV002536551] |
Chr15:27990662 [GRCh38] Chr15:28235808 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1182+2dup |
duplication |
Nonsyndromic Oculocutaneous Albinism [RCV000755086] |
Chr15:27989598..27989599 [GRCh38] Chr15:28234744..28234745 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1951+4A>G |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755091] |
Chr15:27951780 [GRCh38] Chr15:28196926 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 |
copy number gain |
See cases [RCV000449082] |
Chr15:22770421..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 |
copy number gain |
See cases [RCV000449451] |
Chr15:22770421..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 |
copy number loss |
See cases [RCV000449342] |
Chr15:23620191..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 |
copy number loss |
See cases [RCV000449387] |
Chr15:23615768..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 |
copy number gain |
See cases [RCV000454142] |
Chr15:20071673..30737344 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 |
copy number loss |
See cases [RCV000449139] |
Chr15:24179003..37238599 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 |
copy number loss |
See cases [RCV000449305] |
Chr15:23620191..28357230 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 |
copy number loss |
See cases [RCV000449486] |
Chr15:22770421..28527747 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 |
copy number gain |
See cases [RCV000449160] |
Chr15:23300138..29338429 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 |
copy number loss |
See cases [RCV000446327] |
Chr15:22770421..28928730 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 |
copy number gain |
See cases [RCV000447681] |
Chr15:22770421..28527747 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 |
copy number loss |
See cases [RCV000447304] |
Chr15:23290862..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 |
copy number loss |
See cases [RCV000447305] |
Chr15:22770421..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 |
copy number gain |
See cases [RCV000446375] |
Chr15:23290862..28561097 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 |
copy number gain |
See cases [RCV000447111] |
Chr15:22770421..28958779 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 |
copy number loss |
See cases [RCV000446271] |
Chr15:23615768..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 |
copy number loss |
See cases [RCV000447349] |
Chr15:23286571..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 |
copy number loss |
See cases [RCV000447354] |
Chr15:22770421..29021034 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 |
copy number loss |
See cases [RCV000446646] |
Chr15:22770421..28828168 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 |
copy number gain |
See cases [RCV000447598] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 |
copy number gain |
See cases [RCV000446525] |
Chr15:23487423..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 |
copy number gain |
See cases [RCV000447049] |
Chr15:23707452..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 |
copy number gain |
See cases [RCV000446464] |
Chr15:22770421..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 |
copy number loss |
See cases [RCV000446703] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) |
copy number gain |
See cases [RCV000447173] |
Chr15:20190548..28406650 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 |
copy number loss |
See cases [RCV000447451] |
Chr15:22770421..28704050 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 |
copy number loss |
See cases [RCV000446656] |
Chr15:23620191..28527734 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 |
copy number loss |
See cases [RCV000447084] |
Chr15:23620191..28561232 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) |
single nucleotide variant |
Albinism [RCV000504873]|not provided [RCV003322778] |
Chr15:27957712 [GRCh38] Chr15:28202858 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 |
copy number loss |
See cases [RCV000445857] |
Chr15:22770421..31760986 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 |
copy number gain |
See cases [RCV000445780] |
Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 |
copy number loss |
See cases [RCV000445807] |
Chr15:23282829..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000275.3(OCA2):c.646+1825_807+679del |
deletion |
Albinism [RCV000504643] |
Chr15:28017718..28020676 [GRCh38] Chr15:28262864..28265822 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 |
copy number gain |
See cases [RCV000445711] |
Chr15:20733395..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 |
copy number gain |
See cases [RCV000448114] |
Chr15:22770421..31073669 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 |
copy number loss |
See cases [RCV000448156] |
Chr15:22770421..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 |
copy number loss |
See cases [RCV000448168] |
Chr15:22815306..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 |
copy number gain |
See cases [RCV000448177] |
Chr15:23288374..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 |
copy number gain |
See cases [RCV000447775] |
Chr15:22770421..33707835 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 |
copy number loss |
See cases [RCV000448196] |
Chr15:22770421..28709715 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 |
copy number gain |
See cases [RCV000448566] |
Chr15:23290862..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 |
copy number loss |
See cases [RCV000447934] |
Chr15:22770421..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 |
copy number gain |
See cases [RCV000448060] |
Chr15:22770421..28660038 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 |
copy number loss |
See cases [RCV000448654] |
Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 |
copy number gain |
See cases [RCV000448210] |
Chr15:20190548..32917801 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 |
copy number loss |
See cases [RCV000448755] |
Chr15:23290786..28545459 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 |
copy number loss |
See cases [RCV000448076] |
Chr15:22698522..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 |
copy number loss |
See cases [RCV000448602] |
Chr15:22770421..28419123 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 |
copy number loss |
See cases [RCV000448456] |
Chr15:23620191..28437018 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 |
copy number loss |
See cases [RCV000448093] |
Chr15:23707452..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 |
copy number gain |
See cases [RCV000448096] |
Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 |
copy number gain |
See cases [RCV000448389] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000778423]|not provided [RCV000766740]|not specified [RCV000483390] |
Chr15:27990583 [GRCh38] Chr15:28235729 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2338+2T>G |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470590]|not provided [RCV000481150] |
Chr15:27851380 [GRCh38] Chr15:28096526 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1021G>A (p.Val341Ile) |
single nucleotide variant |
not provided [RCV000481251] |
Chr15:28014799 [GRCh38] Chr15:28259945 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu) |
single nucleotide variant |
not provided [RCV000487105] |
Chr15:27844966 [GRCh38] Chr15:28090112 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 |
copy number loss |
See cases [RCV000510622] |
Chr15:23615768..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 |
copy number gain |
See cases [RCV000510367] |
Chr15:22770421..28526410 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 |
copy number gain |
See cases [RCV000510386] |
Chr15:22770421..31122895 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg) |
single nucleotide variant |
not provided [RCV002527273]|not specified [RCV000501001] |
Chr15:27951844 [GRCh38] Chr15:28196990 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.2245-6C>G |
single nucleotide variant |
not provided [RCV002524244]|not specified [RCV000503244] |
Chr15:27851481 [GRCh38] Chr15:28096627 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q12-13.1(chr15:28036720-29244373)x3 |
copy number gain |
See cases [RCV000510634] |
Chr15:28036720..29244373 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 |
copy number gain |
See cases [RCV000510251] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 |
copy number loss |
See cases [RCV000510397] |
Chr15:22770421..28415107 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu) |
single nucleotide variant |
not specified [RCV000503665] |
Chr15:28024883 [GRCh38] Chr15:28270029 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 |
copy number loss |
See cases [RCV000510211] |
Chr15:23625784..28540345 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) |
single nucleotide variant |
OCA2-related condition [RCV003403148]|Tyrosinase-positive oculocutaneous albinism [RCV000501419]|not provided [RCV000727245]|not specified [RCV001172458] |
Chr15:28081796 [GRCh38] Chr15:28326942 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 |
copy number gain |
See cases [RCV000510224] |
Chr15:22770421..29214721 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.807+1G>T |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470630]|Tyrosinase-positive oculocutaneous albinism [RCV000501883]|Tyrosinase-positive oculocutaneous albinism [RCV002490839]|not provided [RCV001857136] |
Chr15:28018396 [GRCh38] Chr15:28263542 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 |
copy number loss |
See cases [RCV000510689] |
Chr15:23615769..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2080-1G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000504359] |
Chr15:27871923 [GRCh38] Chr15:28117069 [GRCh37] Chr15:15q13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 |
copy number gain |
See cases [RCV000510296] |
Chr15:23615769..28561097 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1182+1G>A |
single nucleotide variant |
OCA2-related condition [RCV003424061]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464075]|Tyrosinase-positive oculocutaneous albinism [RCV000502094]|not provided [RCV001550696] |
Chr15:27989600 [GRCh38] Chr15:28234746 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln) |
inversion |
Tyrosinase-positive oculocutaneous albinism [RCV000504518] |
Chr15:28016173..28016174 [GRCh38] Chr15:28261319..28261320 [GRCh37] Chr15:15q13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 |
copy number loss |
See cases [RCV000510693] |
Chr15:22770421..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119574]|not provided [RCV000902597]|not specified [RCV000502401] |
Chr15:27871190 [GRCh38] Chr15:28116336 [GRCh37] Chr15:15q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000500286] |
Chr15:28081747..28081754 [GRCh38] Chr15:28326893..28326900 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.171del (p.Gln58fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000500321] |
Chr15:28081704 [GRCh38] Chr15:28326850 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116702]|not provided [RCV000908217]|not specified [RCV000502777] |
Chr15:27957693 [GRCh38] Chr15:28202839 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) |
single nucleotide variant |
Albinism [RCV000505060]|Inborn genetic diseases [RCV000624810]|Oculocutaneous albinism [RCV003330734]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470629]|Tyrosinase-positive oculocutaneous albinism [RCV000500809]|Tyrosinase-positive oculocutaneous albinism [RCV000762936]|not provided [RCV001326085] |
Chr15:27845052 [GRCh38] Chr15:28090198 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470613]|Tyrosinase-positive oculocutaneous albinism [RCV000762937]|Tyrosinase-positive oculocutaneous albinism [RCV002470881]|not provided [RCV000493655] |
Chr15:27851390 [GRCh38] Chr15:28096536 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 |
copy number loss |
See cases [RCV000511670] |
Chr15:22770421..28660038 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 |
copy number loss |
See cases [RCV000511767] |
Chr15:23290786..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 |
copy number gain |
See cases [RCV000511592] |
Chr15:23615768..28534245 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 |
copy number loss |
See cases [RCV000511600] |
Chr15:23620191..28534359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 |
copy number gain |
See cases [RCV000511850] |
Chr15:23615769..28953483 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 |
copy number loss |
See cases [RCV000510883] |
Chr15:23620191..28539975 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 |
copy number loss |
See cases [RCV000511196] |
Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2055del (p.Phe685fs) |
deletion |
OCA2-related condition [RCV003424048]|Tyrosinase-positive oculocutaneous albinism [RCV000496043] |
Chr15:27926151 [GRCh38] Chr15:28171297 [GRCh37] Chr15:15q13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 |
copy number loss |
See cases [RCV000510894] |
Chr15:23620191..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 |
copy number gain |
See cases [RCV000510929] |
Chr15:23620191..28958779 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 |
copy number gain |
See cases [RCV000510737] |
Chr15:23620191..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 |
copy number gain |
See cases [RCV000510901] |
Chr15:22770421..30369944 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 |
copy number loss |
See cases [RCV000511178] |
Chr15:22770421..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 |
copy number gain |
See cases [RCV000511275] |
Chr15:23290862..28958779 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000624441]|Tyrosinase-positive oculocutaneous albinism [RCV001797766]|not provided [RCV001662669] |
Chr15:28014820 [GRCh38] Chr15:28259966 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1574C>T (p.Pro525Leu) |
single nucleotide variant |
not provided [RCV000520131] |
Chr15:27966752 [GRCh38] Chr15:28211898 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) |
copy number gain |
Autism [RCV000626505] |
Chr15:23810397..29213787 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1365-10T>C |
single nucleotide variant |
not provided [RCV002531652]|not specified [RCV000607994] |
Chr15:27983493 [GRCh38] Chr15:28228639 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.574-19A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001797759]|not provided [RCV000729766]|not specified [RCV000612309] |
Chr15:28022592 [GRCh38] Chr15:28267738 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.808_817del (p.Val270fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV003318427] |
Chr15:28016177..28016186 [GRCh38] Chr15:28261323..28261332 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 |
copy number loss |
See cases [RCV000512394] |
Chr15:23615769..28163991 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 |
copy number gain |
See cases [RCV000512182] |
Chr15:22770421..28561670 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 |
copy number loss |
See cases [RCV000512355] |
Chr15:23620191..28709715 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 |
copy number loss |
See cases [RCV000512547] |
Chr15:23286571..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 |
copy number gain |
See cases [RCV000512432] |
Chr15:22770421..29009042 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr) |
single nucleotide variant |
not provided [RCV000513084] |
Chr15:27983383 [GRCh38] Chr15:28228529 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 |
copy number loss |
not provided [RCV000683633] |
Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 |
copy number gain |
not provided [RCV000683631] |
Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 |
copy number loss |
not provided [RCV000683634] |
Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 |
copy number gain |
not provided [RCV000683636] |
Chr15:22770421..31073668 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 |
copy number gain |
not provided [RCV000683639] |
Chr15:22770421..33098520 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 |
copy number gain |
not provided [RCV000683649] |
Chr15:23632677..28723454 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q12-13.1(chr15:28019085-28334324)x1 |
copy number loss |
not provided [RCV000683656] |
Chr15:28019085..28334324 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 |
copy number gain |
not provided [RCV000683638] |
Chr15:22770421..32439524 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 |
copy number loss |
not provided [RCV000683640] |
Chr15:22876919..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 |
copy number loss |
not provided [RCV000683641] |
Chr15:23286571..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 |
copy number loss |
not provided [RCV000683642] |
Chr15:23288374..28705281 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 |
copy number loss |
not provided [RCV000683643] |
Chr15:23288374..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 |
copy number gain |
not provided [RCV000683645] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 |
copy number gain |
not provided [RCV000683647] |
Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 |
copy number gain |
not provided [RCV000683630] |
Chr15:22770421..28376934 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 |
copy number gain |
not provided [RCV000683632] |
Chr15:22770421..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 |
copy number loss |
not provided [RCV000683650] |
Chr15:23637603..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 |
copy number loss |
not provided [RCV000683635] |
Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 |
copy number loss |
not provided [RCV000683644] |
Chr15:23290786..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 |
copy number loss |
not provided [RCV000683646] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 |
copy number gain |
not provided [RCV000683648] |
Chr15:23632677..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 |
copy number gain |
not provided [RCV000683637] |
Chr15:22770421..32421780 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1 |
copy number loss |
Tyrosinase-positive oculocutaneous albinism [RCV000709814] |
Chr15:28262885..28265761 [GRCh37] Chr15:15q13.1 |
not provided |
GRCh37/hg19 15q12-13.1(chr15:27571956-28600013) |
copy number loss |
Developmental delay with autism spectrum disorder and gait instability [RCV001004084] |
Chr15:27571956..28600013 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755083] |
Chr15:27990636 [GRCh38] Chr15:28235782 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) |
indel |
Nonsyndromic Oculocutaneous Albinism [RCV000755081] |
Chr15:28014833 [GRCh38] Chr15:28259979 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755093] |
Chr15:27845031 [GRCh38] Chr15:28090177 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
Single allele |
duplication |
Schizophrenia [RCV000754156] |
Chr15:23319712..28684313 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 |
copy number loss |
not provided [RCV000738652] |
Chr15:22652330..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 |
copy number loss |
not provided [RCV000738660] |
Chr15:23672782..28532120 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 |
copy number loss |
not provided [RCV000738661] |
Chr15:23672782..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 |
copy number gain |
not provided [RCV000738662] |
Chr15:23693406..29085893 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q12-13.1(chr15:27496959-28924405)x3 |
copy number gain |
not provided [RCV000738695] |
Chr15:27496959..28924405 [GRCh37] Chr15:15q12-13.1 |
benign |
GRCh37/hg19 15q12-13.1(chr15:27963180-28705017)x3 |
copy number gain |
not provided [RCV000738696] |
Chr15:27963180..28705017 [GRCh37] Chr15:15q12-13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28239710-28535266)x3 |
copy number gain |
not provided [RCV000738697] |
Chr15:28239710..28535266 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28341659-28351299)x1 |
copy number loss |
not provided [RCV000738698] |
Chr15:28341659..28351299 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q13.1(chr15:28341659-28353389)x1 |
copy number loss |
not provided [RCV000738699] |
Chr15:28341659..28353389 [GRCh37] Chr15:15q13.1 |
benign |
Single allele |
duplication |
Autism [RCV000754147] |
Chr15:22420897..32130343 [GRCh38] Chr15:15q11.2-13.3 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754157] |
Chr15:23319712..28800324 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 |
copy number gain |
not provided [RCV000754760] |
Chr15:20102541..28535051 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele |
duplication |
Schizophrenia [RCV000754155] |
Chr15:23157975..28774125 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 |
copy number loss |
not provided [RCV000751176] |
Chr15:22750305..28535266 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 |
copy number gain |
not provided [RCV000751178] |
Chr15:22835967..30371774 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 |
copy number gain |
not provided [RCV000751181] |
Chr15:23109890..29085893 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 |
copy number gain |
not provided [RCV000751185] |
Chr15:23656946..28506450 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 |
copy number gain |
not provided [RCV000751186] |
Chr15:23656946..28535266 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 |
copy number gain |
not provided [RCV000751187] |
Chr15:23656946..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 |
copy number loss |
not provided [RCV000751188] |
Chr15:23656946..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470868]|Tyrosinase-positive oculocutaneous albinism [RCV001810100]|not provided [RCV001583207] |
Chr15:27985079 [GRCh38] Chr15:28230225 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.2244+344_2244+345del |
deletion |
not provided [RCV001609536] |
Chr15:27870809..27870810 [GRCh38] Chr15:28115955..28115956 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2139+22A>T |
single nucleotide variant |
not provided [RCV001691140] |
Chr15:27871841 [GRCh38] Chr15:28116987 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2079+126A>G |
single nucleotide variant |
not provided [RCV001709012] |
Chr15:27926001 [GRCh38] Chr15:28171147 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+198dup |
duplication |
not provided [RCV001690348] |
Chr15:27870955..27870956 [GRCh38] Chr15:28116101..28116102 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.326+151C>T |
single nucleotide variant |
not provided [RCV001680487] |
Chr15:28031914 [GRCh38] Chr15:28277060 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755090]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465673]|not provided [RCV003133584] |
Chr15:27951813 [GRCh38] Chr15:28196959 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.2339-128C>T |
single nucleotide variant |
not provided [RCV001612910] |
Chr15:27845180 [GRCh38] Chr15:28090326 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2245-221C>T |
single nucleotide variant |
not provided [RCV001666706] |
Chr15:27851696 [GRCh38] Chr15:28096842 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys) |
single nucleotide variant |
not provided [RCV000761902] |
Chr15:27926226 [GRCh38] Chr15:28171372 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) |
single nucleotide variant |
OCA2-related condition [RCV003396329]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465683]|not provided [RCV000761901] |
Chr15:27926127 [GRCh38] Chr15:28171273 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755089]|Tyrosinase-positive oculocutaneous albinism [RCV000785612] |
Chr15:27983392 [GRCh38] Chr15:28228538 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755094]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465674]|Tyrosinase-positive oculocutaneous albinism [RCV000785611]|Tyrosinase-positive oculocutaneous albinism [RCV002507318]|not provided [RCV001093224] |
Chr15:27845031 [GRCh38] Chr15:28090177 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) |
single nucleotide variant |
Nonsyndromic Oculocutaneous Albinism [RCV000755084]|not provided [RCV001869018] |
Chr15:27990628 [GRCh38] Chr15:28235774 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1364+26A>G |
single nucleotide variant |
not provided [RCV001682095] |
Chr15:27985038 [GRCh38] Chr15:28230184 [GRCh37] Chr15:15q13.1 |
benign |
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 |
copy number loss |
not provided [RCV001006664] |
Chr15:22770421..36861479 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
NM_000275.3(OCA2):c.2432+183G>A |
single nucleotide variant |
not provided [RCV001666210] |
Chr15:27844776 [GRCh38] Chr15:28089922 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1952-270A>T |
single nucleotide variant |
not provided [RCV001681411] |
Chr15:27926524 [GRCh38] Chr15:28171670 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.326+231C>G |
single nucleotide variant |
not provided [RCV001709225] |
Chr15:28031834 [GRCh38] Chr15:28276980 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1134T>C (p.His378=) |
single nucleotide variant |
not provided [RCV000902641] |
Chr15:27989649 [GRCh38] Chr15:28234795 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2500G>A (p.Val834Met) |
single nucleotide variant |
not provided [RCV000969653] |
Chr15:27755405 [GRCh38] Chr15:28000551 [GRCh37] Chr15:15q12 |
benign |
NM_000275.3(OCA2):c.1364G>A (p.Arg455Lys) |
single nucleotide variant |
not provided [RCV000882480] |
Chr15:27985064 [GRCh38] Chr15:28230210 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2088A>G (p.Ala696=) |
single nucleotide variant |
not provided [RCV000975800] |
Chr15:27871914 [GRCh38] Chr15:28117060 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.232C>T (p.His78Tyr) |
single nucleotide variant |
not provided [RCV000901113] |
Chr15:28032159 [GRCh38] Chr15:28277305 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2432+8del |
deletion |
not provided [RCV000903084] |
Chr15:27844951 [GRCh38] Chr15:28090097 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767841] |
Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767717] |
Chr15:20190548..30300265 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767722] |
Chr15:22383299..32917689 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000779152]|not provided [RCV001568483] |
Chr15:27871197 [GRCh38] Chr15:28116343 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000779153] |
Chr15:27957673 [GRCh38] Chr15:28202819 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) |
copy number loss |
Angelman syndrome [RCV000767725] |
Chr15:23683783..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767754] |
Chr15:23810397..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767720] |
Chr15:22382860..32396457 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003461049]|Tyrosinase-positive oculocutaneous albinism [RCV000778422]|Tyrosinase-positive oculocutaneous albinism [RCV002487598]|not provided [RCV001339980]|not specified [RCV003155310] |
Chr15:27985065 [GRCh38] Chr15:28230211 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.681del (p.Leu228fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000778424] |
Chr15:28018523 [GRCh38] Chr15:28263669 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1242A>C (p.Ala414=) |
single nucleotide variant |
not provided [RCV000923445] |
Chr15:27985186 [GRCh38] Chr15:28230332 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) |
copy number loss |
Angelman syndrome [RCV000767721] |
Chr15:22770994..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767723] |
Chr15:22770994..28517432 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) |
copy number loss |
Angelman syndrome [RCV000767724] |
Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.696G>C (p.Leu232=) |
single nucleotide variant |
not provided [RCV000899384] |
Chr15:28018508 [GRCh38] Chr15:28263654 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767718] |
Chr15:20191652..28525310 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) |
copy number loss |
Angelman syndrome [RCV000767719] |
Chr15:20848750..32925141 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) |
copy number loss |
Prader-Willi syndrome [RCV000767726] |
Chr15:23810184..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) |
copy number gain |
15q11q13 microduplication syndrome [RCV000767753] |
Chr15:23810184..29213896 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) |
copy number loss |
Angelman syndrome [RCV000767840] |
Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2245-6C>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118039]|not provided [RCV000827172] |
Chr15:27851481 [GRCh38] Chr15:28096627 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1460C>A (p.Pro487His) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000851378] |
Chr15:27983388 [GRCh38] Chr15:28228534 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465688]|Tyrosinase-positive oculocutaneous albinism [RCV000851380]|not provided [RCV001578073] |
Chr15:27845028 [GRCh38] Chr15:28090174 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1637-2A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000851381] |
Chr15:27957737 [GRCh38] Chr15:28202883 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000851382] |
Chr15:27989539..27989540 [GRCh38] Chr15:28234685..28234686 [GRCh37] Chr15:15q13.1 |
pathogenic |
GRCh37/hg19 15q13.1(chr15:28118372-28304810)x1 |
copy number loss |
not provided [RCV000849126] |
Chr15:28118372..28304810 [GRCh37] Chr15:15q13.1 |
pathogenic |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787376] |
Chr15:23699983..28436313 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000785613] |
Chr15:28263554..28263623 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119693]|not provided [RCV002069944]|not specified [RCV003235472] |
Chr15:27985092 [GRCh38] Chr15:28230238 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV000825026] |
Chr15:23810928..28544664 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116588]|not provided [RCV002069880] |
Chr15:27844979 [GRCh38] Chr15:28090125 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1784+6G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116699] |
Chr15:27957582 [GRCh38] Chr15:28202728 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.885G>A (p.Leu295=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116805] |
Chr15:28016109 [GRCh38] Chr15:28261255 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2169C>T (p.Ala723=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119576]|not provided [RCV002069942] |
Chr15:27871229 [GRCh38] Chr15:28116375 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.646+1G>A |
single nucleotide variant |
not provided [RCV003238977] |
Chr15:28022500 [GRCh38] Chr15:28267646 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119695]|Tyrosinase-positive oculocutaneous albinism [RCV002491371]|not provided [RCV002556557] |
Chr15:27985167 [GRCh38] Chr15:28230313 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.126C>T (p.Ala42=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119792]|not provided [RCV001519361] |
Chr15:28081749 [GRCh38] Chr15:28326895 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119793]|not provided [RCV001760086] |
Chr15:28081769 [GRCh38] Chr15:28326915 [GRCh37] Chr15:15q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116587] |
Chr15:27755467 [GRCh38] Chr15:28000613 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116700]|not provided [RCV001515895] |
Chr15:27957610 [GRCh38] Chr15:28202756 [GRCh37] Chr15:15q13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.654C>A (p.Asn218Lys) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118261] |
Chr15:28018550 [GRCh38] Chr15:28263696 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000851377] |
Chr15:27985142 [GRCh38] Chr15:28230288 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 |
copy number gain |
not provided [RCV000846014] |
Chr15:20179527..32998070 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465687]|Tyrosinase-positive oculocutaneous albinism [RCV000851375] |
Chr15:28022564 [GRCh38] Chr15:28267710 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000851383] |
Chr15:27871281..27871282 [GRCh38] Chr15:28116427..28116428 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro) |
single nucleotide variant |
not provided [RCV001889129] |
Chr15:27957667 [GRCh38] Chr15:28202813 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.506C>T (p.Ser169Phe) |
single nucleotide variant |
not provided [RCV001888989] |
Chr15:28027880 [GRCh38] Chr15:28273026 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
deletion |
Angelman syndrome [RCV001250749] |
Chr15:22646692..28964445 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 |
copy number loss |
not provided [RCV001006665] |
Chr15:23213406..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
Single allele |
deletion |
Angelman syndrome [RCV001250751] |
Chr15:23579300..28447626 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV000851376] |
Chr15:27989660..27989663 [GRCh38] Chr15:28234806..28234809 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV000851379] |
Chr15:27926233 [GRCh38] Chr15:28171379 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003461297]|Tyrosinase-positive oculocutaneous albinism [RCV000989277]|Tyrosinase-positive oculocutaneous albinism [RCV002497282]|not provided [RCV001869361] |
Chr15:27845032 [GRCh38] Chr15:28090178 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 15q12-13.2(chr15:27666103-30386553)x1 |
copy number loss |
not provided [RCV000845688] |
Chr15:27666103..30386553 [GRCh37] Chr15:15q12-13.2 |
uncertain significance |
NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121584] |
Chr15:27951886 [GRCh38] Chr15:28197032 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118036]|not provided [RCV002069906] |
Chr15:27851424 [GRCh38] Chr15:28096570 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116704]|not provided [RCV001856532] |
Chr15:27966695 [GRCh38] Chr15:28211841 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116705]|not provided [RCV001519425] |
Chr15:27966766 [GRCh38] Chr15:28211912 [GRCh37] Chr15:15q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr) |
single nucleotide variant |
Oculocutaneous albinism [RCV003317723] |
Chr15:27871182 [GRCh38] Chr15:28116328 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.973G>A (p.Gly325Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003274611] |
Chr15:28014847 [GRCh38] Chr15:28259993 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.-21-129G>A |
single nucleotide variant |
not provided [RCV001686856] |
Chr15:28082024 [GRCh38] Chr15:28327170 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1951+109A>G |
single nucleotide variant |
not provided [RCV001637757] |
Chr15:27951675 [GRCh38] Chr15:28196821 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.574-39T>C |
single nucleotide variant |
not provided [RCV001615488] |
Chr15:28022612 [GRCh38] Chr15:28267758 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1636+78T>C |
single nucleotide variant |
not provided [RCV001608376] |
Chr15:27966612 [GRCh38] Chr15:28211758 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2140-294C>T |
single nucleotide variant |
not provided [RCV001674073] |
Chr15:27871552 [GRCh38] Chr15:28116698 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+25C>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001788736]|not provided [RCV001671828] |
Chr15:27871129 [GRCh38] Chr15:28116275 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1182+276dup |
duplication |
not provided [RCV001638396] |
Chr15:27989317..27989318 [GRCh38] Chr15:28234463..28234464 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+127G>A |
single nucleotide variant |
not provided [RCV001688907] |
Chr15:27871027 [GRCh38] Chr15:28116173 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2140-183A>G |
single nucleotide variant |
not provided [RCV001709332] |
Chr15:27871441 [GRCh38] Chr15:28116587 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2079+145T>C |
single nucleotide variant |
not provided [RCV001693346] |
Chr15:27925982 [GRCh38] Chr15:28171128 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.891-234G>A |
single nucleotide variant |
not provided [RCV001694522] |
Chr15:28015163 [GRCh38] Chr15:28260309 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1364+113G>A |
single nucleotide variant |
not provided [RCV001617311] |
Chr15:27984951 [GRCh38] Chr15:28230097 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.227+258T>A |
single nucleotide variant |
not provided [RCV001687720] |
Chr15:28081390 [GRCh38] Chr15:28326536 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1504-320GTTT[2] |
microsatellite |
not provided [RCV001620837] |
Chr15:27967131..27967134 [GRCh38] Chr15:28212277..28212280 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+299G>C |
single nucleotide variant |
not provided [RCV001670698] |
Chr15:27870855 [GRCh38] Chr15:28116001 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1785-47A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001788706]|not provided [RCV001658496] |
Chr15:27955262 [GRCh38] Chr15:28200408 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121580]|not provided [RCV000933522] |
Chr15:27926163 [GRCh38] Chr15:28171309 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.711G>A (p.Val237=) |
single nucleotide variant |
not provided [RCV000922655] |
Chr15:28018493 [GRCh38] Chr15:28263639 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.647-4C>T |
single nucleotide variant |
not provided [RCV000905122] |
Chr15:28018561 [GRCh38] Chr15:28263707 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116701]|not provided [RCV000959176] |
Chr15:27957628 [GRCh38] Chr15:28202774 [GRCh37] Chr15:15q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.*410C>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121478] |
Chr15:27754978 [GRCh38] Chr15:28000124 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.*367C>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121480] |
Chr15:27755021 [GRCh38] Chr15:28000167 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter) |
single nucleotide variant |
not provided [RCV001093223] |
Chr15:27844985 [GRCh38] Chr15:28090131 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.573+6T>C |
single nucleotide variant |
not provided [RCV001093226] |
Chr15:28024839 [GRCh38] Chr15:28269985 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121677]|not provided [RCV001327248] |
Chr15:27989623 [GRCh38] Chr15:28234769 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|benign|likely benign|uncertain significance |
NM_000275.3(OCA2):c.1656C>T (p.His552=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116703]|not provided [RCV002069885] |
Chr15:27957716 [GRCh38] Chr15:28202862 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116800] |
Chr15:28014793 [GRCh38] Chr15:28259939 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.972C>T (p.Arg324=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001116804]|not provided [RCV002069886] |
Chr15:28014848 [GRCh38] Chr15:28259994 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1212G>A (p.Thr404=) |
single nucleotide variant |
not provided [RCV000911653] |
Chr15:27986614 [GRCh38] Chr15:28231760 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.723G>A (p.Pro241=) |
single nucleotide variant |
not provided [RCV000934730] |
Chr15:28018481 [GRCh38] Chr15:28263627 [GRCh37] Chr15:15q13.1 |
likely benign |
Single allele |
complex |
Esophageal atresia [RCV000986105] |
Chr15:22676913..30137106 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470862]|not provided [RCV001553116] |
Chr15:27951834 [GRCh38] Chr15:28196980 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 |
copy number gain |
not provided [RCV002473936] |
Chr15:22770422..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q12-13.1(chr15:27932902-28545459)x3 |
copy number gain |
not provided [RCV002473883] |
Chr15:27932902..28545459 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 |
copy number gain |
not provided [RCV002473944] |
Chr15:22770422..30386553 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) |
indel |
OCA2-related condition [RCV003396593]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003467584]|not provided [RCV001008759] |
Chr15:27926154..27926155 [GRCh38] Chr15:28171300..28171301 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.-21-327T>C |
single nucleotide variant |
not provided [RCV001595950] |
Chr15:28082222 [GRCh38] Chr15:28327368 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1324_1326del (p.Asn442del) |
deletion |
not provided [RCV001581404] |
Chr15:27985102..27985104 [GRCh38] Chr15:28230248..28230250 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1784+71G>A |
single nucleotide variant |
not provided [RCV001656553] |
Chr15:27957517 [GRCh38] Chr15:28202663 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.807+299del |
deletion |
not provided [RCV001656731] |
Chr15:28018098 [GRCh38] Chr15:28263244 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1842+262G>A |
single nucleotide variant |
not provided [RCV001687282] |
Chr15:27954896 [GRCh38] Chr15:28200042 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+163T>C |
single nucleotide variant |
not provided [RCV001598839] |
Chr15:27870991 [GRCh38] Chr15:28116137 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+210C>T |
single nucleotide variant |
not provided [RCV001638544] |
Chr15:27870944 [GRCh38] Chr15:28116090 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr) |
single nucleotide variant |
not provided [RCV001093227] |
Chr15:28081829 [GRCh38] Chr15:28326975 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121583]|not provided [RCV001429605]|not specified [RCV001701288] |
Chr15:27951878 [GRCh38] Chr15:28197024 [GRCh37] Chr15:15q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2229G>A (p.Pro743=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119573]|not provided [RCV002069941] |
Chr15:27871169 [GRCh38] Chr15:28116315 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1337T>C (p.Met446Thr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119692] |
Chr15:27985091 [GRCh38] Chr15:28230237 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.*371G>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121479] |
Chr15:27755017 [GRCh38] Chr15:28000163 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.*54A>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121482]|Tyrosinase-positive oculocutaneous albinism [RCV002480493] |
Chr15:27755334 [GRCh38] Chr15:28000480 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121676]|not provided [RCV003106122] |
Chr15:27986604 [GRCh38] Chr15:28231750 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1864C>T (p.Leu622=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121582]|not provided [RCV002069975] |
Chr15:27951871 [GRCh38] Chr15:28197017 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.2244+259del |
deletion |
not provided [RCV001682577] |
Chr15:27870895 [GRCh38] Chr15:28116041 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1785-293C>T |
single nucleotide variant |
not provided [RCV001707259] |
Chr15:27955508 [GRCh38] Chr15:28200654 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1952-209_1952-208insA |
insertion |
not provided [RCV001681873] |
Chr15:27926462..27926463 [GRCh38] Chr15:28171608..28171609 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1117-300A>G |
single nucleotide variant |
not provided [RCV001684387] |
Chr15:27989966 [GRCh38] Chr15:28235112 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2139+106T>C |
single nucleotide variant |
not provided [RCV001684392] |
Chr15:27871757 [GRCh38] Chr15:28116903 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.646+113_646+114insCCATTCTCAC |
insertion |
not provided [RCV001691141] |
Chr15:28022387..28022388 [GRCh38] Chr15:28267533..28267534 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1289G>A (p.Cys430Tyr) |
single nucleotide variant |
not provided [RCV001586572] |
Chr15:27985139 [GRCh38] Chr15:28230285 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1044+59T>C |
single nucleotide variant |
not provided [RCV001708238] |
Chr15:28014717 [GRCh38] Chr15:28259863 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.327-145A>G |
single nucleotide variant |
not provided [RCV001614333] |
Chr15:28028204 [GRCh38] Chr15:28273350 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1784+109G>T |
single nucleotide variant |
not provided [RCV001672148] |
Chr15:27957479 [GRCh38] Chr15:28202625 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2338+179A>G |
single nucleotide variant |
not provided [RCV001609625] |
Chr15:27851203 [GRCh38] Chr15:28096349 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.326+210A>G |
single nucleotide variant |
not provided [RCV001666149] |
Chr15:28031855 [GRCh38] Chr15:28277001 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2140-134C>T |
single nucleotide variant |
not provided [RCV001650331] |
Chr15:27871392 [GRCh38] Chr15:28116538 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470870]|not provided [RCV001589947] |
Chr15:27871907..27871916 [GRCh38] Chr15:28117053..28117062 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.2244+279A>G |
single nucleotide variant |
not provided [RCV001681407] |
Chr15:27870875 [GRCh38] Chr15:28116021 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2139+64dup |
duplication |
not provided [RCV001612680] |
Chr15:27871788..27871789 [GRCh38] Chr15:28116934..28116935 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2139+111A>G |
single nucleotide variant |
not provided [RCV001652569] |
Chr15:27871752 [GRCh38] Chr15:28116898 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1784+161C>T |
single nucleotide variant |
not provided [RCV001692943] |
Chr15:27957427 [GRCh38] Chr15:28202573 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2338+207C>T |
single nucleotide variant |
not provided [RCV001649504] |
Chr15:27851175 [GRCh38] Chr15:28096321 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1951+45G>C |
single nucleotide variant |
not provided [RCV001669748] |
Chr15:27951739 [GRCh38] Chr15:28196885 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001249766] |
Chr15:27985109 [GRCh38] Chr15:28230255 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003467756]|Tyrosinase-positive oculocutaneous albinism [RCV003128258]|not provided [RCV001048856] |
Chr15:27851396 [GRCh38] Chr15:28096542 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118038]|not provided [RCV001862900] |
Chr15:27851433 [GRCh38] Chr15:28096579 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2361G>A (p.Ala787=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118035]|not provided [RCV002069905] |
Chr15:27845030 [GRCh38] Chr15:28090176 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.751G>A (p.Val251Met) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118259]|not provided [RCV002069910] |
Chr15:28018453 [GRCh38] Chr15:28263599 [GRCh37] Chr15:15q13.1 |
benign|uncertain significance |
NM_000275.3(OCA2):c.162G>A (p.Gly54=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001119791] |
Chr15:28081713 [GRCh38] Chr15:28326859 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 |
copy number gain |
not provided [RCV001006662] |
Chr15:22770421..30386553 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 |
copy number gain |
not provided [RCV001006663] |
Chr15:22770421..32915089 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000275.3(OCA2):c.*271G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121481] |
Chr15:27755117 [GRCh38] Chr15:28000263 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.1503+7A>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118144]|not provided [RCV002069908] |
Chr15:27983338 [GRCh38] Chr15:28228484 [GRCh37] Chr15:15q13.1 |
benign|uncertain significance |
NM_000275.3(OCA2):c.1479T>G (p.Val493=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001118145]|not provided [RCV001515035] |
Chr15:27983369 [GRCh38] Chr15:28228515 [GRCh37] Chr15:15q13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 |
copy number loss |
not provided [RCV001007484] |
Chr15:24740574..28659911 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) |
deletion |
Oculocutaneous albinism [RCV003331021]|not provided [RCV001009217] |
Chr15:28024852..28024853 [GRCh38] Chr15:28269998..28269999 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1842+6C>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001121585] |
Chr15:27955152 [GRCh38] Chr15:28200298 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q12-13.1(chr15:28090172-28262709)x1 |
copy number loss |
not provided [RCV001258586] |
Chr15:28090172..28262709 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
Single allele |
duplication |
15q11q13 microduplication syndrome [RCV002280354] |
Chr15:22810652..29822566 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2336del (p.Gly779fs) |
deletion |
not provided [RCV001311381] |
Chr15:27851384 [GRCh38] Chr15:28096530 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.515G>A (p.Arg172Lys) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001332332] |
Chr15:28027871 [GRCh38] Chr15:28273017 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1657_1675del (p.Val553fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV001263486] |
Chr15:27957697..27957715 [GRCh38] Chr15:28202843..28202861 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 |
copy number loss |
not provided [RCV001281355] |
Chr15:23707435..28726651 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.530_532del (p.Trp177del) |
deletion |
not provided [RCV001326281]|not specified [RCV003387997] |
Chr15:28024886..28024888 [GRCh38] Chr15:28270032..28270034 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002283540]|Tyrosinase-positive oculocutaneous albinism [RCV002486168]|not provided [RCV001302975] |
Chr15:28016145 [GRCh38] Chr15:28261291 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1234G>A (p.Val412Ile) |
single nucleotide variant |
not provided [RCV001305876] |
Chr15:27986592 [GRCh38] Chr15:28231738 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1138G>A (p.Val380Met) |
single nucleotide variant |
not provided [RCV001311382] |
Chr15:27989645 [GRCh38] Chr15:28234791 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1083T>C (p.Leu361=) |
single nucleotide variant |
not provided [RCV001412961] |
Chr15:27990609 [GRCh38] Chr15:28235755 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.157del (p.Arg53fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462985]|Tyrosinase-positive oculocutaneous albinism [RCV001797836]|Tyrosinase-positive oculocutaneous albinism [RCV002499794]|not provided [RCV001382526] |
Chr15:28081718 [GRCh38] Chr15:28326864 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 |
copy number loss |
not provided [RCV001537909] |
Chr15:23616095..28538904 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.600A>T (p.Gln200His) |
single nucleotide variant |
not provided [RCV001346586] |
Chr15:28022547 [GRCh38] Chr15:28267693 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1631T>G (p.Ile544Ser) |
single nucleotide variant |
not provided [RCV001356943] |
Chr15:27966695 [GRCh38] Chr15:28211841 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) |
single nucleotide variant |
not provided [RCV001323063] |
Chr15:28081846 [GRCh38] Chr15:28326992 [GRCh37] Chr15:15q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) |
copy number gain |
Epileptic encephalopathy [RCV001291989] |
Chr15:23208842..28525460 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu) |
single nucleotide variant |
not provided [RCV001305145] |
Chr15:27957684 [GRCh38] Chr15:28202830 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.890+1G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001269031]|not provided [RCV001873596] |
Chr15:28016103 [GRCh38] Chr15:28261249 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003462930]|Tyrosinase-positive oculocutaneous albinism [RCV003389336]|not provided [RCV001366949] |
Chr15:27966746 [GRCh38] Chr15:28211892 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.891-4G>T |
single nucleotide variant |
not provided [RCV001496121] |
Chr15:28014933 [GRCh38] Chr15:28260079 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2432+17T>G |
single nucleotide variant |
not provided [RCV001425085] |
Chr15:27844942 [GRCh38] Chr15:28090088 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2433-19A>G |
single nucleotide variant |
not provided [RCV001499118] |
Chr15:27755491 [GRCh38] Chr15:28000637 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.896C>T (p.Thr299Met) |
single nucleotide variant |
not provided [RCV001466254] |
Chr15:28014924 [GRCh38] Chr15:28260070 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1020C>T (p.Gly340=) |
single nucleotide variant |
not provided [RCV001512701] |
Chr15:28014800 [GRCh38] Chr15:28259946 [GRCh37] Chr15:15q13.1 |
benign |
NC_000015.10:g.22804175_30375696dup |
duplication |
15q11q13 microduplication syndrome [RCV001420629] |
Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_000275.3(OCA2):c.2080-179G>T |
single nucleotide variant |
not provided [RCV001541441] |
Chr15:27872101 [GRCh38] Chr15:28117247 [GRCh37] Chr15:15q13.1 |
benign |
Single allele |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV001420680] |
Chr15:28119923..28339403 [GRCh37] Chr15:15q13.1 |
pathogenic |
Single allele |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV001420681] |
Chr15:28143225..28339403 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28263523)_(28263723_?)del |
deletion |
not provided [RCV001387699] |
Chr15:28263523..28263723 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28171253)_(28231809_?)del |
deletion |
not provided [RCV001387700] |
Chr15:28171253..28231809 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1575G>A (p.Pro525=) |
single nucleotide variant |
not provided [RCV001408949] |
Chr15:27966751 [GRCh38] Chr15:28211897 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128269]|not provided [RCV001532247] |
Chr15:27926223 [GRCh38] Chr15:28171369 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.163del (p.Ala55fs) |
deletion |
not provided [RCV001698893] |
Chr15:28081712 [GRCh38] Chr15:28326858 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1784+93G>A |
single nucleotide variant |
not provided [RCV001613860] |
Chr15:27957495 [GRCh38] Chr15:28202641 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1116+16C>T |
single nucleotide variant |
not provided [RCV001503575] |
Chr15:27990560 [GRCh38] Chr15:28235706 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.970C>T (p.Arg324Cys) |
single nucleotide variant |
not provided [RCV001452237] |
Chr15:28014850 [GRCh38] Chr15:28259996 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.573+149G>A |
single nucleotide variant |
not provided [RCV001649909] |
Chr15:28024696 [GRCh38] Chr15:28269842 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2432+178C>T |
single nucleotide variant |
not provided [RCV001686600] |
Chr15:27844781 [GRCh38] Chr15:28089927 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1365-9T>C |
single nucleotide variant |
not provided [RCV001452491] |
Chr15:27983492 [GRCh38] Chr15:28228638 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.574-18C>T |
single nucleotide variant |
not provided [RCV001512441] |
Chr15:28022591 [GRCh38] Chr15:28267737 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2244+334CT[6] |
microsatellite |
not provided [RCV001685033] |
Chr15:27870810..27870811 [GRCh38] Chr15:28115956..28115957 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2338+75T>C |
single nucleotide variant |
not provided [RCV001614431] |
Chr15:27851307 [GRCh38] Chr15:28096453 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463054]|Tyrosinase-positive oculocutaneous albinism [RCV002477856]|not provided [RCV001587029] |
Chr15:28016126 [GRCh38] Chr15:28261272 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.840G>A (p.Pro280=) |
single nucleotide variant |
not provided [RCV001460740] |
Chr15:28016154 [GRCh38] Chr15:28261300 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.180T>C (p.Ser60=) |
single nucleotide variant |
not provided [RCV001489964] |
Chr15:28081695 [GRCh38] Chr15:28326841 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1240-18C>G |
single nucleotide variant |
not provided [RCV001462517] |
Chr15:27985206 [GRCh38] Chr15:28230352 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) |
single nucleotide variant |
not provided [RCV001520408] |
Chr15:28028021 [GRCh38] Chr15:28273167 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NM_000275.3(OCA2):c.1644G>A (p.Lys548=) |
single nucleotide variant |
not provided [RCV001487745] |
Chr15:27957728 [GRCh38] Chr15:28202874 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) |
single nucleotide variant |
not provided [RCV001517963]|not specified [RCV001821827] |
Chr15:28014866 [GRCh38] Chr15:28260012 [GRCh37] Chr15:15q13.1 |
benign|likely benign |
NC_000015.9:g.(?_26107444)_(28230334_?)del |
deletion |
Epilepsy, childhood absence, susceptibility to, 1 [RCV003105342] |
Chr15:26107444..28230334 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2272G>A (p.Asp758Asn) |
single nucleotide variant |
not provided [RCV003109111] |
Chr15:27851448 [GRCh38] Chr15:28096594 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2154G>A (p.Glu718=) |
single nucleotide variant |
not provided [RCV003108686] |
Chr15:27871244 [GRCh38] Chr15:28116390 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro) |
single nucleotide variant |
not provided [RCV001726936] |
Chr15:27957708 [GRCh38] Chr15:28202854 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1016C>T (p.Ala339Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002540357]|not provided [RCV001754828] |
Chr15:28014804 [GRCh38] Chr15:28259950 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2079+5G>T |
single nucleotide variant |
not provided [RCV001768851] |
Chr15:27926122 [GRCh38] Chr15:28171268 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.-21-5C>G |
single nucleotide variant |
not provided [RCV001773889] |
Chr15:28081900 [GRCh38] Chr15:28327046 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2110G>T (p.Val704Phe) |
single nucleotide variant |
not provided [RCV001754614] |
Chr15:27871892 [GRCh38] Chr15:28117038 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003470914]|not provided [RCV001782547] |
Chr15:28016163 [GRCh38] Chr15:28261309 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1678C>T (p.Arg560Cys) |
single nucleotide variant |
not provided [RCV001752321] |
Chr15:27957694 [GRCh38] Chr15:28202840 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) |
single nucleotide variant |
OCA2-related condition [RCV003394239]|Tyrosinase-positive oculocutaneous albinism [RCV002471142]|not provided [RCV001773844] |
Chr15:28016120 [GRCh38] Chr15:28261266 [GRCh37] Chr15:15q13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) |
single nucleotide variant |
not provided [RCV001773853] |
Chr15:27755432 [GRCh38] Chr15:28000578 [GRCh37] Chr15:15q12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000275.3(OCA2):c.1118G>T (p.Arg373Ile) |
single nucleotide variant |
not provided [RCV001752322] |
Chr15:27989665 [GRCh38] Chr15:28234811 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.102C>T (p.Gly34=) |
single nucleotide variant |
not provided [RCV001774645] |
Chr15:28081773 [GRCh38] Chr15:28326919 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1843-9_1843-6del |
microsatellite |
not provided [RCV001755184]|not specified [RCV001821988] |
Chr15:27951898..27951901 [GRCh38] Chr15:28197044..28197047 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1808del (p.Asn603fs) |
deletion |
not provided [RCV001782546] |
Chr15:27955192 [GRCh38] Chr15:28200338 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1258_1264del (p.Gly420fs) |
deletion |
not provided [RCV001782548] |
Chr15:27985164..27985170 [GRCh38] Chr15:28230310..28230316 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1880dup (p.Thr628fs) |
duplication |
not provided [RCV001784765] |
Chr15:27951854..27951855 [GRCh38] Chr15:28197000..28197001 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1860G>C (p.Gly620=) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001797002] |
Chr15:27951875 [GRCh38] Chr15:28197021 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2095C>A (p.His699Asn) |
single nucleotide variant |
not provided [RCV001758167] |
Chr15:27871907 [GRCh38] Chr15:28117053 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1897G>T (p.Val633Phe) |
single nucleotide variant |
not provided [RCV001758168] |
Chr15:27951838 [GRCh38] Chr15:28196984 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1430T>C (p.Ile477Thr) |
single nucleotide variant |
not provided [RCV001758773] |
Chr15:27983418 [GRCh38] Chr15:28228564 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.122del (p.Gly41fs) |
deletion |
not provided [RCV001817779] |
Chr15:28081753 [GRCh38] Chr15:28326899 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.573+5G>A |
single nucleotide variant |
not provided [RCV001869728]|not specified [RCV001820512] |
Chr15:28024840 [GRCh38] Chr15:28269986 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu) |
single nucleotide variant |
not provided [RCV001885356]|not specified [RCV001817888] |
Chr15:27986625 [GRCh38] Chr15:28231771 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1951+1G>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001806445] |
Chr15:27951783 [GRCh38] Chr15:28196929 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV001808893] |
Chr15:27957724 [GRCh38] Chr15:28202870 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1298C>T (p.Ala433Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003164196]|not provided [RCV001894894] |
Chr15:27985130 [GRCh38] Chr15:28230276 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1015G>A (p.Ala339Thr) |
single nucleotide variant |
not provided [RCV002045594] |
Chr15:28014805 [GRCh38] Chr15:28259951 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.891-10C>A |
single nucleotide variant |
not provided [RCV001896396] |
Chr15:28014939 [GRCh38] Chr15:28260085 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.10:g.23370759_30529376del |
deletion |
Angelman syndrome [RCV001839262] |
Chr15:23370759..30529376 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_000275.3(OCA2):c.2197G>C (p.Ala733Pro) |
single nucleotide variant |
not provided [RCV002025867] |
Chr15:27871201 [GRCh38] Chr15:28116347 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2273A>T (p.Asp758Val) |
single nucleotide variant |
not provided [RCV001928359] |
Chr15:27851447 [GRCh38] Chr15:28096593 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.744_746dup (p.Glu248_His249insGln) |
duplication |
not provided [RCV001988314] |
Chr15:28018457..28018458 [GRCh38] Chr15:28263603..28263604 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1741G>A (p.Ala581Thr) |
single nucleotide variant |
not provided [RCV002040719] |
Chr15:27957631 [GRCh38] Chr15:28202777 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1438G>C (p.Ala480Pro) |
single nucleotide variant |
not provided [RCV001964234] |
Chr15:27983410 [GRCh38] Chr15:28228556 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1870G>A (p.Ala624Thr) |
single nucleotide variant |
not provided [RCV001864186] |
Chr15:27951865 [GRCh38] Chr15:28197011 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.515+3A>G |
single nucleotide variant |
not provided [RCV001864333] |
Chr15:28027868 [GRCh38] Chr15:28273014 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2338+1G>T |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464272]|not provided [RCV001950284] |
Chr15:27851381 [GRCh38] Chr15:28096527 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1606C>A (p.Leu536Ile) |
single nucleotide variant |
not provided [RCV001895101] |
Chr15:27966720 [GRCh38] Chr15:28211866 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.227+1_227+15del |
deletion |
not provided [RCV002024192] |
Chr15:28081633..28081647 [GRCh38] Chr15:28326779..28326793 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NC_000015.9:g.(?_26792940)_(28544682_?)dup |
duplication |
Epilepsy, childhood absence, susceptibility to, 1 [RCV003107872]|not provided [RCV001874738] |
Chr15:26792940..28544682 [GRCh37] Chr15:15q12-13.1 |
uncertain significance|no classifications from unflagged records |
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002497956]|not provided [RCV002025506] |
Chr15:28014877 [GRCh38] Chr15:28260023 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1031T>C (p.Leu344Pro) |
single nucleotide variant |
not provided [RCV002045031] |
Chr15:28014789 [GRCh38] Chr15:28259935 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe) |
single nucleotide variant |
not provided [RCV002039382] |
Chr15:28024846 [GRCh38] Chr15:28269992 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.286G>A (p.Glu96Lys) |
single nucleotide variant |
not provided [RCV001896649] |
Chr15:28032105 [GRCh38] Chr15:28277251 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.733G>T (p.Gly245Trp) |
single nucleotide variant |
not provided [RCV001864247] |
Chr15:28018471 [GRCh38] Chr15:28263617 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1698C>T (p.Arg566=) |
single nucleotide variant |
not provided [RCV001914223] |
Chr15:27957674 [GRCh38] Chr15:28202820 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.553G>T (p.Ala185Ser) |
single nucleotide variant |
not provided [RCV001965859] |
Chr15:28024865 [GRCh38] Chr15:28270011 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.65C>T (p.Thr22Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002592639]|not provided [RCV002003935] |
Chr15:28081810 [GRCh38] Chr15:28326956 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1579C>G (p.Leu527Val) |
single nucleotide variant |
not provided [RCV001966390] |
Chr15:27966747 [GRCh38] Chr15:28211893 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.872C>T (p.Thr291Ile) |
single nucleotide variant |
not provided [RCV002040270] |
Chr15:28016122 [GRCh38] Chr15:28261268 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1784+3A>C |
single nucleotide variant |
not provided [RCV001985903] |
Chr15:27957585 [GRCh38] Chr15:28202731 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1044+2T>C |
single nucleotide variant |
not provided [RCV002002043] |
Chr15:28014774 [GRCh38] Chr15:28259920 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2335G>A (p.Gly779Arg) |
single nucleotide variant |
not provided [RCV001965915] |
Chr15:27851385 [GRCh38] Chr15:28096531 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.100G>A (p.Gly34Ser) |
single nucleotide variant |
not provided [RCV001911234] |
Chr15:28081775 [GRCh38] Chr15:28326921 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2030T>C (p.Val677Ala) |
single nucleotide variant |
not provided [RCV002040969] |
Chr15:27926176 [GRCh38] Chr15:28171322 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2154G>C (p.Glu718Asp) |
single nucleotide variant |
not provided [RCV002039474] |
Chr15:27871244 [GRCh38] Chr15:28116390 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) |
single nucleotide variant |
not provided [RCV001912267] |
Chr15:27957673 [GRCh38] Chr15:28202819 [GRCh37] Chr15:15q13.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr) |
single nucleotide variant |
not provided [RCV001909173] |
Chr15:27845013 [GRCh38] Chr15:28090159 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002561511]|not provided [RCV001984755] |
Chr15:27985166 [GRCh38] Chr15:28230312 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1630A>G (p.Ile544Val) |
single nucleotide variant |
not provided [RCV002044508] |
Chr15:27966696 [GRCh38] Chr15:28211842 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1183-4_1183-3delinsGC |
indel |
not provided [RCV001987523] |
Chr15:27986646..27986647 [GRCh38] Chr15:28231792..28231793 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28000534)_(28000638_?)dup |
duplication |
not provided [RCV001913682] |
Chr15:28000534..28000638 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1364+5G>A |
single nucleotide variant |
not provided [RCV002023694] |
Chr15:27985059 [GRCh38] Chr15:28230205 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.271_272delinsTT (p.Asp91Phe) |
indel |
not provided [RCV002024428] |
Chr15:28032119..28032120 [GRCh38] Chr15:28277265..28277266 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1670C>T (p.Thr557Ile) |
single nucleotide variant |
not provided [RCV002040729] |
Chr15:27957702 [GRCh38] Chr15:28202848 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs) |
insertion |
Tyrosinase-positive oculocutaneous albinism [RCV002052129] |
Chr15:27957665..27957666 [GRCh38] Chr15:28202811..28202812 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.169G>A (p.Gly57Arg) |
single nucleotide variant |
not provided [RCV002042465] |
Chr15:28081706 [GRCh38] Chr15:28326852 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2358C>T (p.Gly786=) |
single nucleotide variant |
not provided [RCV001983916] |
Chr15:27845033 [GRCh38] Chr15:28090179 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.793C>T (p.Arg265Trp) |
single nucleotide variant |
not provided [RCV001911719] |
Chr15:28018411 [GRCh38] Chr15:28263557 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1528G>A (p.Ala510Thr) |
single nucleotide variant |
not provided [RCV002041170] |
Chr15:27966798 [GRCh38] Chr15:28211944 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.217A>G (p.Thr73Ala) |
single nucleotide variant |
not provided [RCV002023456] |
Chr15:28081658 [GRCh38] Chr15:28326804 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.94G>T (p.Val32Leu) |
single nucleotide variant |
not provided [RCV001948994] |
Chr15:28081781 [GRCh38] Chr15:28326927 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1346dup (p.Thr450fs) |
duplication |
not provided [RCV001987147] |
Chr15:27985081..27985082 [GRCh38] Chr15:28230227..28230228 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1005G>A (p.Thr335=) |
single nucleotide variant |
not provided [RCV002042738] |
Chr15:28014815 [GRCh38] Chr15:28259961 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.2290C>G (p.Pro764Ala) |
single nucleotide variant |
not provided [RCV001927685] |
Chr15:27851430 [GRCh38] Chr15:28096576 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1017G>A (p.Ala339=) |
single nucleotide variant |
not provided [RCV001894930] |
Chr15:28014803 [GRCh38] Chr15:28259949 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.407G>A (p.Arg136Gln) |
single nucleotide variant |
not provided [RCV001909378] |
Chr15:28027979 [GRCh38] Chr15:28273125 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1240-24CT[3] |
microsatellite |
not provided [RCV001984073] |
Chr15:27985205..27985206 [GRCh38] Chr15:28230351..28230352 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.1328T>C (p.Val443Ala) |
single nucleotide variant |
not provided [RCV002023760] |
Chr15:27985100 [GRCh38] Chr15:28230246 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter) |
single nucleotide variant |
not provided [RCV001908306] |
Chr15:27926227 [GRCh38] Chr15:28171373 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2275C>T (p.Pro759Ser) |
single nucleotide variant |
not provided [RCV002041393] |
Chr15:27851445 [GRCh38] Chr15:28096591 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser) |
single nucleotide variant |
not provided [RCV001908396] |
Chr15:27983364 [GRCh38] Chr15:28228510 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1843-1G>T |
single nucleotide variant |
not provided [RCV001946832] |
Chr15:27951893 [GRCh38] Chr15:28197039 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs) |
deletion |
not provided [RCV001941934] |
Chr15:27845035..27845038 [GRCh38] Chr15:28090181..28090184 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1765A>T (p.Arg589Trp) |
single nucleotide variant |
not provided [RCV001934966] |
Chr15:27957607 [GRCh38] Chr15:28202753 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) |
single nucleotide variant |
not provided [RCV001884356] |
Chr15:27989605 [GRCh38] Chr15:28234751 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.2079+4A>C |
single nucleotide variant |
not provided [RCV001867211] |
Chr15:27926123 [GRCh38] Chr15:28171269 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2494C>T (p.His832Tyr) |
single nucleotide variant |
not provided [RCV001997655] |
Chr15:27755411 [GRCh38] Chr15:28000557 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1364+6C>A |
single nucleotide variant |
not provided [RCV001880409] |
Chr15:27985058 [GRCh38] Chr15:28230204 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1784+5C>T |
single nucleotide variant |
not provided [RCV001993826] |
Chr15:27957583 [GRCh38] Chr15:28202729 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2160C>T (p.Arg720=) |
single nucleotide variant |
not provided [RCV002037693] |
Chr15:27871238 [GRCh38] Chr15:28116384 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1400T>A (p.Val467Asp) |
single nucleotide variant |
not provided [RCV002001227] |
Chr15:27983448 [GRCh38] Chr15:28228594 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.257G>C (p.Ser86Thr) |
single nucleotide variant |
not provided [RCV001924577] |
Chr15:28032134 [GRCh38] Chr15:28277280 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1897G>A (p.Val633Ile) |
single nucleotide variant |
not provided [RCV001922346] |
Chr15:27951838 [GRCh38] Chr15:28196984 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1999A>G (p.Ile667Val) |
single nucleotide variant |
not provided [RCV001963381] |
Chr15:27926207 [GRCh38] Chr15:28171353 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471112]|not provided [RCV001990017] |
Chr15:28027893 [GRCh38] Chr15:28273039 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1117-20A>G |
single nucleotide variant |
not provided [RCV001902038] |
Chr15:27989686 [GRCh38] Chr15:28234832 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.916del (p.Ala306fs) |
deletion |
not provided [RCV002037685] |
Chr15:28014904 [GRCh38] Chr15:28260050 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28211816)_(28277329_?)del |
deletion |
not provided [RCV001999731] |
Chr15:28211816..28277329 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28228471)_(28277329_?)dup |
duplication |
not provided [RCV001991379] |
Chr15:28228471..28277329 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1247G>C (p.Arg416Pro) |
single nucleotide variant |
not provided [RCV002014773] |
Chr15:27985181 [GRCh38] Chr15:28230327 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.573+3G>A |
single nucleotide variant |
not provided [RCV001937754] |
Chr15:28024842 [GRCh38] Chr15:28269988 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2501T>A (p.Val834Glu) |
single nucleotide variant |
not provided [RCV002018742] |
Chr15:27755404 [GRCh38] Chr15:28000550 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1636+6T>G |
single nucleotide variant |
not provided [RCV001961429] |
Chr15:27966684 [GRCh38] Chr15:28211830 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.44C>A (p.Pro15Gln) |
single nucleotide variant |
not provided [RCV002038255] |
Chr15:28081831 [GRCh38] Chr15:28326977 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1016C>A (p.Ala339Glu) |
single nucleotide variant |
not provided [RCV002030016] |
Chr15:28014804 [GRCh38] Chr15:28259950 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1756C>T (p.Leu586Phe) |
single nucleotide variant |
not provided [RCV001999350] |
Chr15:27957616 [GRCh38] Chr15:28202762 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1504-2A>G |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471002]|not provided [RCV001886910] |
Chr15:27966824 [GRCh38] Chr15:28211970 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1324A>G (p.Asn442Asp) |
single nucleotide variant |
not provided [RCV002000958] |
Chr15:27985104 [GRCh38] Chr15:28230250 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1297G>A (p.Ala433Thr) |
single nucleotide variant |
not provided [RCV001943381] |
Chr15:27985131 [GRCh38] Chr15:28230277 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2297C>T (p.Pro766Leu) |
single nucleotide variant |
not provided [RCV001886402] |
Chr15:27851423 [GRCh38] Chr15:28096569 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28211816)_(28235813_?)del |
deletion |
not provided [RCV001942066] |
Chr15:28211816..28235813 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.178T>C (p.Ser60Pro) |
single nucleotide variant |
not provided [RCV002039152] |
Chr15:28081697 [GRCh38] Chr15:28326843 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.822_823insTC (p.Thr275fs) |
insertion |
not provided [RCV001953693] |
Chr15:28016171..28016172 [GRCh38] Chr15:28261317..28261318 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28171253)_(28235813_?)del |
deletion |
not provided [RCV001960758] |
Chr15:28171253..28235813 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.327G>A (p.Gly109=) |
single nucleotide variant |
not provided [RCV002027696] |
Chr15:28028059 [GRCh38] Chr15:28273205 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2498TGG[2] (p.Val835del) |
microsatellite |
not provided [RCV001962730] |
Chr15:27755399..27755401 [GRCh38] Chr15:28000545..28000547 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.2233A>G (p.Thr745Ala) |
single nucleotide variant |
not provided [RCV001996944] |
Chr15:27871165 [GRCh38] Chr15:28116311 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2135del (p.Ile712fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471139]|not provided [RCV002000078] |
Chr15:27871867 [GRCh38] Chr15:28117013 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) |
single nucleotide variant |
not provided [RCV001993284]|not specified [RCV003230717] |
Chr15:27983470 [GRCh38] Chr15:28228616 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
NC_000015.10:g.27955214_27955217del |
deletion |
not provided [RCV002037948] |
Chr15:27955211..27955214 [GRCh38] Chr15:28200357..28200360 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1116+2T>C |
single nucleotide variant |
not provided [RCV001963600] |
Chr15:27990574 [GRCh38] Chr15:28235720 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2244+1G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003232462]|not provided [RCV001942988] |
Chr15:27871153 [GRCh38] Chr15:28116299 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter) |
single nucleotide variant |
not provided [RCV001943586] |
Chr15:28027983 [GRCh38] Chr15:28273129 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.792G>T (p.Trp264Cys) |
single nucleotide variant |
not provided [RCV001881471] |
Chr15:28018412 [GRCh38] Chr15:28263558 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1850T>C (p.Ile617Thr) |
single nucleotide variant |
not provided [RCV002020201] |
Chr15:27951885 [GRCh38] Chr15:28197031 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002569152]|not provided [RCV001963223] |
Chr15:27851397 [GRCh38] Chr15:28096543 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_26792940)_(28544682_?)del |
deletion |
not provided [RCV001972406] |
Chr15:26792940..28544682 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002484402]|not provided [RCV001901536] |
Chr15:28081651 [GRCh38] Chr15:28326797 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.938C>A (p.Ala313Asp) |
single nucleotide variant |
not provided [RCV001867099] |
Chr15:28014882 [GRCh38] Chr15:28260028 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1843C>T (p.His615Tyr) |
single nucleotide variant |
not provided [RCV002011712] |
Chr15:27951892 [GRCh38] Chr15:28197038 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.891-17G>A |
single nucleotide variant |
not provided [RCV002046862] |
Chr15:28014946 [GRCh38] Chr15:28260092 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.649G>A (p.Val217Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003264336]|not provided [RCV001951713] |
Chr15:28018555 [GRCh38] Chr15:28263701 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys) |
single nucleotide variant |
not provided [RCV001993657] |
Chr15:27844996 [GRCh38] Chr15:28090142 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28269971)_(28270068_?)del |
deletion |
not provided [RCV001899341] |
Chr15:28269971..28270068 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1354G>C (p.Val452Leu) |
single nucleotide variant |
not provided [RCV001876469] |
Chr15:27985074 [GRCh38] Chr15:28230220 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28202714)_(28211988_?)dup |
duplication |
not provided [RCV001991388] |
Chr15:28202714..28211988 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2354T>C (p.Ile785Thr) |
single nucleotide variant |
not provided [RCV002049884] |
Chr15:27845037 [GRCh38] Chr15:28090183 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1429A>G (p.Ile477Val) |
single nucleotide variant |
not provided [RCV001954674] |
Chr15:27983419 [GRCh38] Chr15:28228565 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2506G>A (p.Gly836Arg) |
single nucleotide variant |
not provided [RCV001935970] |
Chr15:27755399 [GRCh38] Chr15:28000545 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.158G>A (p.Arg53Lys) |
single nucleotide variant |
not provided [RCV002010908] |
Chr15:28081717 [GRCh38] Chr15:28326863 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1568G>A (p.Cys523Tyr) |
single nucleotide variant |
not provided [RCV002050098] |
Chr15:27966758 [GRCh38] Chr15:28211904 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2079+3A>G |
single nucleotide variant |
not provided [RCV001879276] |
Chr15:27926124 [GRCh38] Chr15:28171270 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2087C>T (p.Ala696Val) |
single nucleotide variant |
not provided [RCV001879446] |
Chr15:27871915 [GRCh38] Chr15:28117061 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1715G>A (p.Arg572His) |
single nucleotide variant |
not provided [RCV001995323] |
Chr15:27957657 [GRCh38] Chr15:28202803 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1858G>A (p.Gly620Arg) |
single nucleotide variant |
not provided [RCV001934456] |
Chr15:27951877 [GRCh38] Chr15:28197023 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1044+5C>T |
single nucleotide variant |
not provided [RCV002033169] |
Chr15:28014771 [GRCh38] Chr15:28259917 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2431A>G (p.Arg811Gly) |
single nucleotide variant |
not provided [RCV002016594] |
Chr15:27844960 [GRCh38] Chr15:28090106 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1679G>T (p.Arg560Leu) |
single nucleotide variant |
not provided [RCV001879689] |
Chr15:27957693 [GRCh38] Chr15:28202839 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1862T>C (p.Ile621Thr) |
single nucleotide variant |
not provided [RCV002029353] |
Chr15:27951873 [GRCh38] Chr15:28197019 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1611T>G (p.Tyr537Ter) |
single nucleotide variant |
not provided [RCV001960251] |
Chr15:27966715 [GRCh38] Chr15:28211861 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.155C>G (p.Pro52Arg) |
single nucleotide variant |
not provided [RCV002034936] |
Chr15:28081720 [GRCh38] Chr15:28326866 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28171253)_(28171420_?)del |
deletion |
not provided [RCV001906404] |
Chr15:28171253..28171420 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.647-3G>A |
single nucleotide variant |
not provided [RCV001926271] |
Chr15:28018560 [GRCh38] Chr15:28263706 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28090085)_(28544682_?)dup |
duplication |
not provided [RCV002015408] |
Chr15:28090085..28544682 [GRCh37] Chr15:15q12-13.1 |
uncertain significance |
NM_000275.3(OCA2):c.470A>T (p.Asp157Val) |
single nucleotide variant |
not provided [RCV001886388] |
Chr15:28027916 [GRCh38] Chr15:28273062 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1536G>A (p.Met512Ile) |
single nucleotide variant |
not provided [RCV002045920] |
Chr15:27966790 [GRCh38] Chr15:28211936 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) |
deletion |
OCA2-related condition [RCV003407995]|not provided [RCV001996654] |
Chr15:27985151..27985153 [GRCh38] Chr15:28230297..28230299 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
NM_000275.3(OCA2):c.824C>G (p.Thr275Arg) |
single nucleotide variant |
not provided [RCV002047327] |
Chr15:28016170 [GRCh38] Chr15:28261316 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464210]|not provided [RCV001878104] |
Chr15:28022516 [GRCh38] Chr15:28267662 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1048G>A (p.Val350Met) |
single nucleotide variant |
not provided [RCV001957109] |
Chr15:27990644 [GRCh38] Chr15:28235790 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1985T>A (p.Leu662Gln) |
single nucleotide variant |
not provided [RCV001980296] |
Chr15:27926221 [GRCh38] Chr15:28171367 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2282T>C (p.Val761Ala) |
single nucleotide variant |
not provided [RCV001997342] |
Chr15:27851438 [GRCh38] Chr15:28096584 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.688G>T (p.Val230Leu) |
single nucleotide variant |
not provided [RCV002035273] |
Chr15:28018516 [GRCh38] Chr15:28263662 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.70G>A (p.Val24Met) |
single nucleotide variant |
not provided [RCV002019161] |
Chr15:28081805 [GRCh38] Chr15:28326951 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1555del (p.Val519fs) |
deletion |
OCA2-related condition [RCV003395322]|not provided [RCV001956358] |
Chr15:27966771 [GRCh38] Chr15:28211917 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1355T>C (p.Val452Ala) |
single nucleotide variant |
not provided [RCV001974841] |
Chr15:27985073 [GRCh38] Chr15:28230219 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1399G>A (p.Val467Ile) |
single nucleotide variant |
not provided [RCV001900059] |
Chr15:27983449 [GRCh38] Chr15:28228595 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28228471)_(28228649_?)dup |
duplication |
not provided [RCV002013880] |
Chr15:28228471..28228649 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NC_000015.9:g.(?_28231713)_(28235813_?)del |
deletion |
not provided [RCV001951315] |
Chr15:28231713..28235813 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28200284)_(28200381_?)del |
deletion |
not provided [RCV001960756] |
Chr15:28200284..28200381 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1842+2T>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002274238]|not provided [RCV001956266] |
Chr15:27955156 [GRCh38] Chr15:28200302 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1273A>G (p.Met425Val) |
single nucleotide variant |
not provided [RCV002033801] |
Chr15:27985155 [GRCh38] Chr15:28230301 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.965A>G (p.Tyr322Cys) |
single nucleotide variant |
not provided [RCV001904976] |
Chr15:28014855 [GRCh38] Chr15:28260001 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1717C>T (p.Arg573Cys) |
single nucleotide variant |
not provided [RCV001938266] |
Chr15:27957655 [GRCh38] Chr15:28202801 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.811A>G (p.Thr271Ala) |
single nucleotide variant |
not provided [RCV001952670] |
Chr15:28016183 [GRCh38] Chr15:28261329 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1138G>C (p.Val380Leu) |
single nucleotide variant |
not provided [RCV001882015] |
Chr15:27989645 [GRCh38] Chr15:28234791 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2373C>G (p.Val791=) |
single nucleotide variant |
not provided [RCV002034428] |
Chr15:27845018 [GRCh38] Chr15:28090164 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.794G>A (p.Arg265Gln) |
single nucleotide variant |
not provided [RCV001923921] |
Chr15:28018410 [GRCh38] Chr15:28263556 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.649G>C (p.Val217Leu) |
single nucleotide variant |
not provided [RCV001996759] |
Chr15:28018555 [GRCh38] Chr15:28263701 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28228471)_(28228649_?)del |
deletion |
not provided [RCV001939376] |
Chr15:28228471..28228649 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV003452160]|not provided [RCV001938159] |
Chr15:28014870 [GRCh38] Chr15:28260016 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1183A>T (p.Met395Leu) |
single nucleotide variant |
not provided [RCV001961413] |
Chr15:27986643 [GRCh38] Chr15:28231789 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002503488]|not provided [RCV001905699] |
Chr15:28081834 [GRCh38] Chr15:28326980 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.74_78del (p.Pro25fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003464297]|not provided [RCV001939435] |
Chr15:28081797..28081801 [GRCh38] Chr15:28326943..28326947 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.274del (p.Ser92fs) |
deletion |
not provided [RCV001939609] |
Chr15:28032117 [GRCh38] Chr15:28277263 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2060C>T (p.Ala687Val) |
single nucleotide variant |
not provided [RCV001998656] |
Chr15:27926146 [GRCh38] Chr15:28171292 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1612A>G (p.Asn538Asp) |
single nucleotide variant |
not provided [RCV001998880] |
Chr15:27966714 [GRCh38] Chr15:28211860 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1246C>T (p.Arg416Trp) |
single nucleotide variant |
not provided [RCV002019686] |
Chr15:27985182 [GRCh38] Chr15:28230328 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2245-1G>A |
single nucleotide variant |
not provided [RCV002036545] |
Chr15:27851476 [GRCh38] Chr15:28096622 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1183-6C>A |
single nucleotide variant |
not provided [RCV001924452] |
Chr15:27986649 [GRCh38] Chr15:28231795 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.637G>A (p.Glu213Lys) |
single nucleotide variant |
not provided [RCV001906173] |
Chr15:28022510 [GRCh38] Chr15:28267656 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2403A>G (p.Gly801=) |
single nucleotide variant |
not provided [RCV001876354] |
Chr15:27844988 [GRCh38] Chr15:28090134 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2245-11T>C |
single nucleotide variant |
not provided [RCV001998949] |
Chr15:27851486 [GRCh38] Chr15:28096632 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) |
deletion |
not provided [RCV001950873] |
Chr15:27990630..27990636 [GRCh38] Chr15:28235776..28235782 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.107G>T (p.Arg36Leu) |
single nucleotide variant |
not provided [RCV002010726] |
Chr15:28081768 [GRCh38] Chr15:28326914 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002049748]|not provided [RCV002543442] |
Chr15:27983404 [GRCh38] Chr15:28228550 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.647C>T (p.Ser216Phe) |
single nucleotide variant |
not provided [RCV002032989] |
Chr15:28018557 [GRCh38] Chr15:28263703 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.517C>T (p.Arg173Cys) |
single nucleotide variant |
not provided [RCV001917787] |
Chr15:28024901 [GRCh38] Chr15:28270047 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1633G>A (p.Val545Ile) |
single nucleotide variant |
not provided [RCV002028214] |
Chr15:27966693 [GRCh38] Chr15:28211839 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.971G>A (p.Arg324His) |
single nucleotide variant |
not provided [RCV002009798] |
Chr15:28014849 [GRCh38] Chr15:28259995 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471115]|Tyrosinase-positive oculocutaneous albinism [RCV003128278]|not provided [RCV001993111] |
Chr15:27990616 [GRCh38] Chr15:28235762 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002503565]|not provided [RCV001937908] |
Chr15:27957709 [GRCh38] Chr15:28202855 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1718G>A (p.Arg573His) |
single nucleotide variant |
not provided [RCV001994012] |
Chr15:27957654 [GRCh38] Chr15:28202800 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2123C>A (p.Thr708Asn) |
single nucleotide variant |
not provided [RCV002046569] |
Chr15:27871879 [GRCh38] Chr15:28117025 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1534A>G (p.Met512Val) |
single nucleotide variant |
not provided [RCV002012957] |
Chr15:27966792 [GRCh38] Chr15:28211938 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.371A>C (p.Glu124Ala) |
single nucleotide variant |
not provided [RCV001976206] |
Chr15:28028015 [GRCh38] Chr15:28273161 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.824C>T (p.Thr275Met) |
single nucleotide variant |
not provided [RCV001903246] |
Chr15:28016170 [GRCh38] Chr15:28261316 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1647C>T (p.His549=) |
single nucleotide variant |
not provided [RCV002105432] |
Chr15:27957725 [GRCh38] Chr15:28202871 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1116+7del |
deletion |
not provided [RCV002146642] |
Chr15:27990569 [GRCh38] Chr15:28235715 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.891-6C>T |
single nucleotide variant |
not provided [RCV002208529] |
Chr15:28014935 [GRCh38] Chr15:28260081 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.722C>T (p.Pro241Leu) |
single nucleotide variant |
not provided [RCV002090789] |
Chr15:28018482 [GRCh38] Chr15:28263628 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.498C>T (p.Leu166=) |
single nucleotide variant |
not provided [RCV002147332] |
Chr15:28027888 [GRCh38] Chr15:28273034 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.107G>A (p.Arg36His) |
single nucleotide variant |
not provided [RCV002189060] |
Chr15:28081768 [GRCh38] Chr15:28326914 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.885G>C (p.Leu295=) |
single nucleotide variant |
not provided [RCV002087633] |
Chr15:28016109 [GRCh38] Chr15:28261255 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1518C>T (p.Ala506=) |
single nucleotide variant |
not provided [RCV002208951] |
Chr15:27966808 [GRCh38] Chr15:28211954 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.797G>A (p.Arg266Gln) |
single nucleotide variant |
not provided [RCV002165348] |
Chr15:28018407 [GRCh38] Chr15:28263553 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1458C>T (p.Asp486=) |
single nucleotide variant |
not provided [RCV002170142] |
Chr15:27983390 [GRCh38] Chr15:28228536 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1452C>T (p.Ile484=) |
single nucleotide variant |
not provided [RCV002089207] |
Chr15:27983396 [GRCh38] Chr15:28228542 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.486G>T (p.Pro162=) |
single nucleotide variant |
not provided [RCV002145662] |
Chr15:28027900 [GRCh38] Chr15:28273046 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.774C>T (p.Asp258=) |
single nucleotide variant |
not provided [RCV002110935] |
Chr15:28018430 [GRCh38] Chr15:28263576 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2245-18T>C |
single nucleotide variant |
not provided [RCV002167813] |
Chr15:27851493 [GRCh38] Chr15:28096639 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.808-15C>T |
single nucleotide variant |
not provided [RCV002169764] |
Chr15:28016201 [GRCh38] Chr15:28261347 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1335C>A (p.Thr445=) |
single nucleotide variant |
not provided [RCV002165370] |
Chr15:27985093 [GRCh38] Chr15:28230239 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.393T>G (p.Ser131=) |
single nucleotide variant |
not provided [RCV002090197] |
Chr15:28027993 [GRCh38] Chr15:28273139 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2196A>G (p.Ser732=) |
single nucleotide variant |
not provided [RCV002090268] |
Chr15:27871202 [GRCh38] Chr15:28116348 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.748A>G (p.Ile250Val) |
single nucleotide variant |
not provided [RCV002127211] |
Chr15:28018456 [GRCh38] Chr15:28263602 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1530A>G (p.Ala510=) |
single nucleotide variant |
not provided [RCV002111178] |
Chr15:27966796 [GRCh38] Chr15:28211942 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1504-16C>T |
single nucleotide variant |
not provided [RCV002148342] |
Chr15:27966838 [GRCh38] Chr15:28211984 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg) |
single nucleotide variant |
not provided [RCV002225972] |
Chr15:27926171 [GRCh38] Chr15:28171317 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1637-16C>G |
single nucleotide variant |
not provided [RCV002087248] |
Chr15:27957751 [GRCh38] Chr15:28202897 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.574-17_574-3del |
deletion |
not provided [RCV002210108] |
Chr15:28022576..28022590 [GRCh38] Chr15:28267722..28267736 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2245-8C>G |
single nucleotide variant |
not provided [RCV002210728] |
Chr15:27851483 [GRCh38] Chr15:28096629 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1881G>A (p.Leu627=) |
single nucleotide variant |
not provided [RCV002075733] |
Chr15:27951854 [GRCh38] Chr15:28197000 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1482C>T (p.Ser494=) |
single nucleotide variant |
not provided [RCV002152363] |
Chr15:27983366 [GRCh38] Chr15:28228512 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1637-18G>A |
single nucleotide variant |
not provided [RCV002196122] |
Chr15:27957753 [GRCh38] Chr15:28202899 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.678G>A (p.Thr226=) |
single nucleotide variant |
not provided [RCV002127489] |
Chr15:28018526 [GRCh38] Chr15:28263672 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2061G>A (p.Ala687=) |
single nucleotide variant |
not provided [RCV002112896] |
Chr15:27926145 [GRCh38] Chr15:28171291 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.897G>A (p.Thr299=) |
single nucleotide variant |
not provided [RCV002132883] |
Chr15:28014923 [GRCh38] Chr15:28260069 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.891-11T>C |
single nucleotide variant |
not provided [RCV002096841] |
Chr15:28014940 [GRCh38] Chr15:28260086 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2385G>A (p.Gly795=) |
single nucleotide variant |
not provided [RCV002153723] |
Chr15:27845006 [GRCh38] Chr15:28090152 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1364+18G>T |
single nucleotide variant |
not provided [RCV002093237] |
Chr15:27985046 [GRCh38] Chr15:28230192 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2301G>T (p.Pro767=) |
single nucleotide variant |
not provided [RCV002193947] |
Chr15:27851419 [GRCh38] Chr15:28096565 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.598C>G (p.Gln200Glu) |
single nucleotide variant |
not provided [RCV002172263] |
Chr15:28022549 [GRCh38] Chr15:28267695 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2250C>T (p.Pro750=) |
single nucleotide variant |
not provided [RCV002134560] |
Chr15:27851470 [GRCh38] Chr15:28096616 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1014C>T (p.Leu338=) |
single nucleotide variant |
not provided [RCV002173927] |
Chr15:28014806 [GRCh38] Chr15:28259952 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2502G>T (p.Val834=) |
single nucleotide variant |
not provided [RCV002167759] |
Chr15:27755403 [GRCh38] Chr15:28000549 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.1221C>T (p.Phe407=) |
single nucleotide variant |
not provided [RCV002093862] |
Chr15:27986605 [GRCh38] Chr15:28231751 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1183-5_1183-4inv |
inversion |
not provided [RCV002115101] |
Chr15:27986647..27986648 [GRCh38] Chr15:28231793..28231794 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.516-15C>T |
single nucleotide variant |
not provided [RCV002213167] |
Chr15:28024917 [GRCh38] Chr15:28270063 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1350G>A (p.Thr450=) |
single nucleotide variant |
not provided [RCV002146950] |
Chr15:27985078 [GRCh38] Chr15:28230224 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1527T>C (p.Thr509=) |
single nucleotide variant |
not provided [RCV002077109] |
Chr15:27966799 [GRCh38] Chr15:28211945 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2139+9A>G |
single nucleotide variant |
not provided [RCV002149423] |
Chr15:27871854 [GRCh38] Chr15:28117000 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.459C>T (p.Ser153=) |
single nucleotide variant |
not provided [RCV002094624] |
Chr15:28027927 [GRCh38] Chr15:28273073 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.21C>T (p.Asp7=) |
single nucleotide variant |
not provided [RCV002086686] |
Chr15:28081854 [GRCh38] Chr15:28327000 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.540C>T (p.Val180=) |
single nucleotide variant |
not provided [RCV002209642] |
Chr15:28024878 [GRCh38] Chr15:28270024 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1240-14G>A |
single nucleotide variant |
not provided [RCV002196077] |
Chr15:27985202 [GRCh38] Chr15:28230348 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1455G>A (p.Gly485=) |
single nucleotide variant |
not provided [RCV002206654] |
Chr15:27983393 [GRCh38] Chr15:28228539 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1743A>C (p.Ala581=) |
single nucleotide variant |
not provided [RCV002147903] |
Chr15:27957629 [GRCh38] Chr15:28202775 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.111G>A (p.Arg37=) |
single nucleotide variant |
not provided [RCV002151803] |
Chr15:28081764 [GRCh38] Chr15:28326910 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.492C>T (p.Ile164=) |
single nucleotide variant |
not provided [RCV002194333] |
Chr15:28027894 [GRCh38] Chr15:28273040 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2205G>A (p.Ala735=) |
single nucleotide variant |
not provided [RCV002215254] |
Chr15:27871193 [GRCh38] Chr15:28116339 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.390C>T (p.Ser130=) |
single nucleotide variant |
not provided [RCV002166164] |
Chr15:28027996 [GRCh38] Chr15:28273142 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1401C>A (p.Val467=) |
single nucleotide variant |
not provided [RCV002208480] |
Chr15:27983447 [GRCh38] Chr15:28228593 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1503+9C>A |
single nucleotide variant |
not provided [RCV002109965] |
Chr15:27983336 [GRCh38] Chr15:28228482 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.914G>A (p.Arg305Gln) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003339923]|not provided [RCV002093618] |
Chr15:28014906 [GRCh38] Chr15:28260052 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.2292C>T (p.Pro764=) |
single nucleotide variant |
not provided [RCV002078382] |
Chr15:27851428 [GRCh38] Chr15:28096574 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.69C>T (p.Ser23=) |
single nucleotide variant |
not provided [RCV002195636] |
Chr15:28081806 [GRCh38] Chr15:28326952 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1364+20C>T |
single nucleotide variant |
not provided [RCV002116582] |
Chr15:27985044 [GRCh38] Chr15:28230190 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1503+14del |
deletion |
not provided [RCV002210118] |
Chr15:27983331 [GRCh38] Chr15:28228477 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.44C>T (p.Pro15Leu) |
single nucleotide variant |
not provided [RCV002169518] |
Chr15:28081831 [GRCh38] Chr15:28326977 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.546C>A (p.Gly182=) |
single nucleotide variant |
not provided [RCV002153171] |
Chr15:28024872 [GRCh38] Chr15:28270018 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1240-9T>C |
single nucleotide variant |
not provided [RCV002165198] |
Chr15:27985197 [GRCh38] Chr15:28230343 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1045-7T>C |
single nucleotide variant |
not provided [RCV002212288] |
Chr15:27990654 [GRCh38] Chr15:28235800 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2289G>T (p.Leu763=) |
single nucleotide variant |
not provided [RCV002114183] |
Chr15:27851431 [GRCh38] Chr15:28096577 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.99C>T (p.Ala33=) |
single nucleotide variant |
not provided [RCV002075504] |
Chr15:28081776 [GRCh38] Chr15:28326922 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.647-9C>T |
single nucleotide variant |
not provided [RCV002151997] |
Chr15:28018566 [GRCh38] Chr15:28263712 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1952-18C>A |
single nucleotide variant |
not provided [RCV002131761] |
Chr15:27926272 [GRCh38] Chr15:28171418 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2338+13dup |
duplication |
not provided [RCV002195814] |
Chr15:27851368..27851369 [GRCh38] Chr15:28096514..28096515 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2080-19C>A |
single nucleotide variant |
not provided [RCV002077956] |
Chr15:27871941 [GRCh38] Chr15:28117087 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1843-15G>A |
single nucleotide variant |
not provided [RCV002194555] |
Chr15:27951907 [GRCh38] Chr15:28197053 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) |
copy number loss |
Prader-Willi syndrome [RCV002280643] |
Chr15:22770421..28635058 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.515+10C>G |
single nucleotide variant |
not provided [RCV002157501] |
Chr15:28027861 [GRCh38] Chr15:28273007 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1784+9C>A |
single nucleotide variant |
not provided [RCV002203139] |
Chr15:27957579 [GRCh38] Chr15:28202725 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1044+13C>T |
single nucleotide variant |
not provided [RCV002202778] |
Chr15:28014763 [GRCh38] Chr15:28259909 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.573+19C>G |
single nucleotide variant |
not provided [RCV002201424] |
Chr15:28024826 [GRCh38] Chr15:28269972 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1952-16A>C |
single nucleotide variant |
not provided [RCV002083034] |
Chr15:27926270 [GRCh38] Chr15:28171416 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2497G>A (p.Val833Met) |
single nucleotide variant |
not provided [RCV002104249] |
Chr15:27755408 [GRCh38] Chr15:28000554 [GRCh37] Chr15:15q12 |
benign |
NM_000275.3(OCA2):c.963G>A (p.Gln321=) |
single nucleotide variant |
not provided [RCV002156195] |
Chr15:28014857 [GRCh38] Chr15:28260003 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1758C>T (p.Leu586=) |
single nucleotide variant |
not provided [RCV002139420] |
Chr15:27957614 [GRCh38] Chr15:28202760 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1785-17C>T |
single nucleotide variant |
not provided [RCV002136312] |
Chr15:27955232 [GRCh38] Chr15:28200378 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2271C>T (p.His757=) |
single nucleotide variant |
not provided [RCV002159061] |
Chr15:27851449 [GRCh38] Chr15:28096595 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1784+15C>T |
single nucleotide variant |
not provided [RCV002153910] |
Chr15:27957573 [GRCh38] Chr15:28202719 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2109T>C (p.Tyr703=) |
single nucleotide variant |
not provided [RCV002182812] |
Chr15:27871893 [GRCh38] Chr15:28117039 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.69C>G (p.Ser23=) |
single nucleotide variant |
not provided [RCV002142816] |
Chr15:28081806 [GRCh38] Chr15:28326952 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1599C>T (p.Asn533=) |
single nucleotide variant |
not provided [RCV002175604] |
Chr15:27966727 [GRCh38] Chr15:28211873 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.500G>A (p.Arg167His) |
single nucleotide variant |
not provided [RCV002154231] |
Chr15:28027886 [GRCh38] Chr15:28273032 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.36C>T (p.Pro12=) |
single nucleotide variant |
not provided [RCV002117887] |
Chr15:28081839 [GRCh38] Chr15:28326985 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.807+10A>T |
single nucleotide variant |
not provided [RCV002160163] |
Chr15:28018387 [GRCh38] Chr15:28263533 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.759G>A (p.Glu253=) |
single nucleotide variant |
not provided [RCV002084066] |
Chr15:28018445 [GRCh38] Chr15:28263591 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1519G>A (p.Gly507Arg) |
single nucleotide variant |
not provided [RCV002143552] |
Chr15:27966807 [GRCh38] Chr15:28211953 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2514T>C (p.Asn838=) |
single nucleotide variant |
not provided [RCV002200690] |
Chr15:27755391 [GRCh38] Chr15:28000537 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.1302C>T (p.Ala434=) |
single nucleotide variant |
not provided [RCV002204607] |
Chr15:27985126 [GRCh38] Chr15:28230272 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.459C>G (p.Ser153=) |
single nucleotide variant |
not provided [RCV002164291] |
Chr15:28027927 [GRCh38] Chr15:28273073 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.574-13C>T |
single nucleotide variant |
not provided [RCV002084465] |
Chr15:28022586 [GRCh38] Chr15:28267732 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.515+8G>A |
single nucleotide variant |
not provided [RCV002082627] |
Chr15:28027863 [GRCh38] Chr15:28273009 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.891-11T>G |
single nucleotide variant |
not provided [RCV002164421] |
Chr15:28014940 [GRCh38] Chr15:28260086 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1374G>A (p.Glu458=) |
single nucleotide variant |
not provided [RCV002122964] |
Chr15:27983474 [GRCh38] Chr15:28228620 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2245-6C>T |
single nucleotide variant |
not provided [RCV002182703] |
Chr15:27851481 [GRCh38] Chr15:28096627 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.326+13C>T |
single nucleotide variant |
not provided [RCV002201905] |
Chr15:28032052 [GRCh38] Chr15:28277198 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1951+15G>A |
single nucleotide variant |
not provided [RCV002140918] |
Chr15:27951769 [GRCh38] Chr15:28196915 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.58C>T (p.Leu20=) |
single nucleotide variant |
not provided [RCV002203440] |
Chr15:28081817 [GRCh38] Chr15:28326963 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.84C>T (p.Leu28=) |
single nucleotide variant |
not provided [RCV002199189] |
Chr15:28081791 [GRCh38] Chr15:28326937 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1761C>T (p.Ala587=) |
single nucleotide variant |
not provided [RCV002199323] |
Chr15:27957611 [GRCh38] Chr15:28202757 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1785-14_1785-12del |
microsatellite |
not provided [RCV002101493] |
Chr15:27955227..27955229 [GRCh38] Chr15:28200373..28200375 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1182+18C>T |
single nucleotide variant |
not provided [RCV002121436] |
Chr15:27989583 [GRCh38] Chr15:28234729 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.750C>T (p.Ile250=) |
single nucleotide variant |
not provided [RCV002201682] |
Chr15:28018454 [GRCh38] Chr15:28263600 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1182+19G>A |
single nucleotide variant |
not provided [RCV002135691] |
Chr15:27989582 [GRCh38] Chr15:28234728 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1281C>T (p.Ile427=) |
single nucleotide variant |
not provided [RCV002159327] |
Chr15:27985147 [GRCh38] Chr15:28230293 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1050G>T (p.Val350=) |
single nucleotide variant |
not provided [RCV002161932] |
Chr15:27990642 [GRCh38] Chr15:28235788 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2331C>T (p.Cys777=) |
single nucleotide variant |
not provided [RCV002123171] |
Chr15:27851389 [GRCh38] Chr15:28096535 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003161657]|not provided [RCV002175641] |
Chr15:28081835 [GRCh38] Chr15:28326981 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2058A>T (p.Ala686=) |
single nucleotide variant |
not provided [RCV002098955] |
Chr15:27926148 [GRCh38] Chr15:28171294 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1182+18C>G |
single nucleotide variant |
not provided [RCV002140163] |
Chr15:27989583 [GRCh38] Chr15:28234729 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2031G>A (p.Val677=) |
single nucleotide variant |
not provided [RCV002138843] |
Chr15:27926175 [GRCh38] Chr15:28171321 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2073G>A (p.Leu691=) |
single nucleotide variant |
not provided [RCV002180156] |
Chr15:27926133 [GRCh38] Chr15:28171279 [GRCh37] Chr15:15q13.1 |
likely benign |
NC_000015.9:g.(?_28234727)_(28234832_?)del |
deletion |
not provided [RCV003109320] |
Chr15:28234727..28234832 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28211816)_(28211988_?)del |
deletion |
not provided [RCV003109321] |
Chr15:28211816..28211988 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28090085)_(28096641_?)del |
deletion |
not provided [RCV003109322] |
Chr15:28090085..28096641 [GRCh37] Chr15:15q12 |
pathogenic |
NC_000015.9:g.(?_28235702)_(28277329_?)del |
deletion |
not provided [RCV003109323] |
Chr15:28235702..28277329 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28171253)_(28277329_?)del |
deletion |
not provided [RCV003109324] |
Chr15:28171253..28277329 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28171253)_(28171420_?)dup |
duplication |
not provided [RCV003109325] |
Chr15:28171253..28171420 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28326774)_(28327020_?)dup |
duplication |
not provided [RCV003109326] |
Chr15:28326774..28327020 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28267627)_(28391510_?)dup |
duplication |
not provided [RCV003109327] |
Chr15:28267627..28391510 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NC_000015.9:g.(?_28171253)_(28277329_?)dup |
duplication |
not provided [RCV003109328] |
Chr15:28171253..28277329 [GRCh37] Chr15:15q13.1 |
pathogenic |
NC_000015.9:g.(?_28090085)_(28277329_?)dup |
duplication |
not provided [RCV003109329] |
Chr15:28090085..28277329 [GRCh37] Chr15:15q12-13.1 |
likely pathogenic |
NC_000015.9:g.(?_28259902)_(28261352_?)dup |
duplication |
not provided [RCV003109330] |
Chr15:28259902..28261352 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2446A>G (p.Met816Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003162153]|not provided [RCV003112443] |
Chr15:27755459 [GRCh38] Chr15:28000605 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.42G>A (p.Ala14=) |
single nucleotide variant |
not provided [RCV003115860] |
Chr15:28081833 [GRCh38] Chr15:28326979 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.39C>T (p.Gly13=) |
single nucleotide variant |
not provided [RCV003116137] |
Chr15:28081836 [GRCh38] Chr15:28326982 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1865T>C (p.Leu622Pro) |
single nucleotide variant |
not provided [RCV003112303] |
Chr15:27951870 [GRCh38] Chr15:28197016 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1004C>T (p.Thr335Met) |
single nucleotide variant |
not provided [RCV003122005] |
Chr15:28014816 [GRCh38] Chr15:28259962 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128362] |
Chr15:27983367 [GRCh38] Chr15:28228513 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1116+6T>C |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128365] |
Chr15:27990570 [GRCh38] Chr15:28235716 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1045-10T>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128358] |
Chr15:27990657 [GRCh38] Chr15:28235803 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) |
copy number gain |
15q11q13 microduplication syndrome [RCV003236743] |
Chr15:23684691..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.515+1G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002283622] |
Chr15:28027870 [GRCh38] Chr15:28273016 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.646+1G>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002274285] |
Chr15:28022500 [GRCh38] Chr15:28267646 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.605A>G (p.Lys202Arg) |
single nucleotide variant |
not provided [RCV002297015] |
Chr15:28022542 [GRCh38] Chr15:28267688 [GRCh37] Chr15:15q13.1 |
uncertain significance |
Single allele |
complex |
Distal tetrasomy 15q [RCV002280777] |
Chr15:22770421..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 |
copy number gain |
FETAL DEMISE [RCV002282734] |
Chr15:22770421..29057676 [GRCh37] Chr15:15q11.2-13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1365-1G>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002274286] |
Chr15:27983484 [GRCh38] Chr15:28228630 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2225dup (p.Phe744fs) |
duplication |
Tyrosinase-positive oculocutaneous albinism [RCV002274287] |
Chr15:27871172..27871173 [GRCh38] Chr15:28116318..28116319 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.163dup (p.Ala55fs) |
duplication |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471310]|Tyrosinase-positive oculocutaneous albinism [RCV002283758] |
Chr15:28081711..28081712 [GRCh38] Chr15:28326857..28326858 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) |
copy number loss |
Angelman syndrome [RCV002280758] |
Chr15:23290862..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs) |
duplication |
Tyrosinase-positive oculocutaneous albinism [RCV002290084]|not provided [RCV003101670] |
Chr15:27844986..27844987 [GRCh38] Chr15:28090132..28090133 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
NM_000275.3(OCA2):c.374_375del (p.Glu125fs) |
microsatellite |
Tyrosinase-positive oculocutaneous albinism [RCV002282795]|not provided [RCV003101612] |
Chr15:28028011..28028012 [GRCh38] Chr15:28273157..28273158 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) |
copy number gain |
See cases [RCV002286340] |
Chr15:30370019..30374368 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 |
copy number loss |
See cases [RCV002286346] |
Chr15:23288374..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.808-3C>G |
single nucleotide variant |
OCA2-related condition [RCV003408208]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471311]|Tyrosinase-positive oculocutaneous albinism [RCV002284014] |
Chr15:28016189 [GRCh38] Chr15:28261335 [GRCh37] Chr15:15q13.1 |
pathogenic|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) |
copy number gain |
15q11q13 microduplication syndrome [RCV002280725] |
Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.660C>G (p.Ser220Arg) |
single nucleotide variant |
not provided [RCV002297487] |
Chr15:28018544 [GRCh38] Chr15:28263690 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1952-7T>G |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV002284051] |
Chr15:27926261 [GRCh38] Chr15:28171407 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128359] |
Chr15:27951861 [GRCh38] Chr15:28197007 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 |
copy number loss |
not provided [RCV002472551] |
Chr15:23670891..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1248dup (p.Leu417fs) |
duplication |
Tyrosinase-positive oculocutaneous albinism [RCV002470202] |
Chr15:27985179..27985180 [GRCh38] Chr15:28230325..28230326 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1253C>T (p.Ser418Phe) |
single nucleotide variant |
not provided [RCV002467167] |
Chr15:27985175 [GRCh38] Chr15:28230321 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 |
copy number gain |
not provided [RCV002474488] |
Chr15:23615769..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 |
copy number loss |
not provided [RCV002474513] |
Chr15:23615769..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 |
copy number gain |
not provided [RCV002474562] |
Chr15:22770422..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 |
copy number loss |
not provided [RCV002474564] |
Chr15:23290787..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128363] |
Chr15:27871913 [GRCh38] Chr15:28117059 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128364] |
Chr15:27990628 [GRCh38] Chr15:28235774 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2459C>A (p.Ser820Tyr) |
single nucleotide variant |
not provided [RCV002295026] |
Chr15:27755446 [GRCh38] Chr15:28000592 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.407G>C (p.Arg136Pro) |
single nucleotide variant |
not provided [RCV002304669] |
Chr15:28027979 [GRCh38] Chr15:28273125 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2226C>G (p.Ile742Met) |
single nucleotide variant |
not provided [RCV002306072] |
Chr15:27871172 [GRCh38] Chr15:28116318 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.306G>T (p.Arg102Ser) |
single nucleotide variant |
not provided [RCV002296115] |
Chr15:28032085 [GRCh38] Chr15:28277231 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.891-19T>C |
single nucleotide variant |
not provided [RCV002726390] |
Chr15:28014948 [GRCh38] Chr15:28260094 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val) |
single nucleotide variant |
not provided [RCV002858576] |
Chr15:27983470 [GRCh38] Chr15:28228616 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.765C>T (p.Thr255=) |
single nucleotide variant |
not provided [RCV002775088] |
Chr15:28018439 [GRCh38] Chr15:28263585 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.904A>G (p.Ile302Val) |
single nucleotide variant |
not provided [RCV002816609] |
Chr15:28014916 [GRCh38] Chr15:28260062 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1503+4C>T |
single nucleotide variant |
not provided [RCV002994998] |
Chr15:27983341 [GRCh38] Chr15:28228487 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1135G>A (p.Val379Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002682099] |
Chr15:27989648 [GRCh38] Chr15:28234794 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.326+17del |
deletion |
not provided [RCV002685570] |
Chr15:28032048 [GRCh38] Chr15:28277194 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.2140-20T>A |
single nucleotide variant |
not provided [RCV002815662] |
Chr15:27871278 [GRCh38] Chr15:28116424 [GRCh37] Chr15:15q13.1 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 |
copy number gain |
not provided [RCV002475662] |
Chr15:23632678..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2338+16C>T |
single nucleotide variant |
not provided [RCV002991832] |
Chr15:27851366 [GRCh38] Chr15:28096512 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.245C>G (p.Pro82Arg) |
single nucleotide variant |
not provided [RCV003032385] |
Chr15:28032146 [GRCh38] Chr15:28277292 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1064_1065delinsTA (p.Ala355Val) |
indel |
not provided [RCV002842660] |
Chr15:27990627..27990628 [GRCh38] Chr15:28235773..28235774 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1086AGCACTGGC[3] (p.Ala368_Val369insAlaLeuAla) |
microsatellite |
not provided [RCV003016979] |
Chr15:27990588..27990589 [GRCh38] Chr15:28235734..28235735 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1752C>G (p.His584Gln) |
single nucleotide variant |
not provided [RCV002819073] |
Chr15:27957620 [GRCh38] Chr15:28202766 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.84C>A (p.Leu28=) |
single nucleotide variant |
not provided [RCV003016549] |
Chr15:28081791 [GRCh38] Chr15:28326937 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr) |
single nucleotide variant |
not provided [RCV002775144] |
Chr15:27957613 [GRCh38] Chr15:28202759 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1603A>G (p.Lys535Glu) |
single nucleotide variant |
not provided [RCV002996337] |
Chr15:27966723 [GRCh38] Chr15:28211869 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1029G>A (p.Ala343=) |
single nucleotide variant |
not provided [RCV003016606] |
Chr15:28014791 [GRCh38] Chr15:28259937 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2059G>A (p.Ala687Thr) |
single nucleotide variant |
not provided [RCV002636083] |
Chr15:27926147 [GRCh38] Chr15:28171293 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2069T>C (p.Val690Ala) |
single nucleotide variant |
not provided [RCV002636042] |
Chr15:27926137 [GRCh38] Chr15:28171283 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2255T>C (p.Leu752Pro) |
single nucleotide variant |
not provided [RCV003034606] |
Chr15:27851465 [GRCh38] Chr15:28096611 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.966C>A (p.Tyr322Ter) |
single nucleotide variant |
not provided [RCV003034607] |
Chr15:28014854 [GRCh38] Chr15:28260000 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.883C>T (p.Leu295=) |
single nucleotide variant |
not provided [RCV003013794] |
Chr15:28016111 [GRCh38] Chr15:28261257 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1027G>C (p.Ala343Pro) |
single nucleotide variant |
not provided [RCV002616833] |
Chr15:28014793 [GRCh38] Chr15:28259939 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2430C>T (p.Phe810=) |
single nucleotide variant |
not provided [RCV002839018] |
Chr15:27844961 [GRCh38] Chr15:28090107 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1892G>C (p.Gly631Ala) |
single nucleotide variant |
not provided [RCV002815794] |
Chr15:27951843 [GRCh38] Chr15:28196989 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.808-4A>G |
single nucleotide variant |
not provided [RCV002755371] |
Chr15:28016190 [GRCh38] Chr15:28261336 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.891-9G>A |
single nucleotide variant |
not provided [RCV002681534] |
Chr15:28014938 [GRCh38] Chr15:28260084 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.525G>A (p.Val175=) |
single nucleotide variant |
not provided [RCV003073701] |
Chr15:28024893 [GRCh38] Chr15:28270039 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn) |
single nucleotide variant |
not provided [RCV002861944] |
Chr15:27983430 [GRCh38] Chr15:28228576 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.326+17C>T |
single nucleotide variant |
not provided [RCV002816280] |
Chr15:28032048 [GRCh38] Chr15:28277194 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2414C>G (p.Ser805Cys) |
single nucleotide variant |
not provided [RCV002613913] |
Chr15:27844977 [GRCh38] Chr15:28090123 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1174T>C (p.Phe392Leu) |
single nucleotide variant |
not provided [RCV002815486] |
Chr15:27989609 [GRCh38] Chr15:28234755 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 |
copy number loss |
not provided [RCV002511814] |
Chr15:23684645..28566612 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 |
copy number loss |
not provided [RCV002511813] |
Chr15:22833525..28544662 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.1184T>C (p.Met395Thr) |
single nucleotide variant |
not provided [RCV003016438] |
Chr15:27986642 [GRCh38] Chr15:28231788 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.633G>A (p.Pro211=) |
single nucleotide variant |
not provided [RCV002613430] |
Chr15:28022514 [GRCh38] Chr15:28267660 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1697G>A (p.Arg566His) |
single nucleotide variant |
not provided [RCV002996056] |
Chr15:27957675 [GRCh38] Chr15:28202821 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1504-18C>T |
single nucleotide variant |
not provided [RCV002972093] |
Chr15:27966840 [GRCh38] Chr15:28211986 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2245-19A>G |
single nucleotide variant |
not provided [RCV002681312] |
Chr15:27851494 [GRCh38] Chr15:28096640 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.516-3C>A |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128360] |
Chr15:28024905 [GRCh38] Chr15:28270051 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128361] |
Chr15:27957594 [GRCh38] Chr15:28202740 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2433-14T>G |
single nucleotide variant |
not provided [RCV002858732] |
Chr15:27755486 [GRCh38] Chr15:28000632 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000275.3(OCA2):c.537A>G (p.Lys179=) |
single nucleotide variant |
not provided [RCV002755714] |
Chr15:28024881 [GRCh38] Chr15:28270027 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.227G>A (p.Arg76Lys) |
single nucleotide variant |
not provided [RCV002861434] |
Chr15:28081648 [GRCh38] Chr15:28326794 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 |
copy number gain |
not provided [RCV002475533] |
Chr15:23620192..28545459 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2370C>T (p.Asn790=) |
single nucleotide variant |
not provided [RCV002996011] |
Chr15:27845021 [GRCh38] Chr15:28090167 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1712T>C (p.Val571Ala) |
single nucleotide variant |
not provided [RCV002952932] |
Chr15:27957660 [GRCh38] Chr15:28202806 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.647-12_647-1del |
deletion |
not provided [RCV002976055] |
Chr15:28018558..28018569 [GRCh38] Chr15:28263704..28263715 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2298G>T (p.Pro766=) |
single nucleotide variant |
not provided [RCV002847300] |
Chr15:27851422 [GRCh38] Chr15:28096568 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.705C>T (p.Ala235=) |
single nucleotide variant |
not provided [RCV002621531] |
Chr15:28018499 [GRCh38] Chr15:28263645 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.731del (p.Pro244fs) |
deletion |
not provided [RCV002889865] |
Chr15:28018473 [GRCh38] Chr15:28263619 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1247G>A (p.Arg416Gln) |
single nucleotide variant |
not provided [RCV002740463] |
Chr15:27985181 [GRCh38] Chr15:28230327 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2242A>G (p.Met748Val) |
single nucleotide variant |
not provided [RCV002740359] |
Chr15:27871156 [GRCh38] Chr15:28116302 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1919A>G (p.Asn640Ser) |
single nucleotide variant |
not provided [RCV002885753] |
Chr15:27951816 [GRCh38] Chr15:28196962 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2432+19del |
deletion |
not provided [RCV002847766] |
Chr15:27844940 [GRCh38] Chr15:28090086 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.757G>A (p.Glu253Lys) |
single nucleotide variant |
not provided [RCV002622877] |
Chr15:28018447 [GRCh38] Chr15:28263593 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.168C>T (p.Ala56=) |
single nucleotide variant |
not provided [RCV002949213] |
Chr15:28081707 [GRCh38] Chr15:28326853 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.976A>G (p.Ser326Gly) |
single nucleotide variant |
not provided [RCV002820478] |
Chr15:28014844 [GRCh38] Chr15:28259990 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2278G>A (p.Glu760Lys) |
single nucleotide variant |
not provided [RCV002690745] |
Chr15:27851442 [GRCh38] Chr15:28096588 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1321G>A (p.Asp441Asn) |
single nucleotide variant |
not provided [RCV002847291] |
Chr15:27985107 [GRCh38] Chr15:28230253 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1638A>G (p.Glu546=) |
single nucleotide variant |
not provided [RCV003100347] |
Chr15:27957734 [GRCh38] Chr15:28202880 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2338+18G>A |
single nucleotide variant |
not provided [RCV002691182] |
Chr15:27851364 [GRCh38] Chr15:28096510 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.890+10C>T |
single nucleotide variant |
not provided [RCV002694908] |
Chr15:28016094 [GRCh38] Chr15:28261240 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2373C>T (p.Val791=) |
single nucleotide variant |
not provided [RCV002705344] |
Chr15:27845018 [GRCh38] Chr15:28090164 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1]) |
microsatellite |
Tyrosinase-positive oculocutaneous albinism [RCV003128325]|not provided [RCV003079184] |
Chr15:27990589..27990597 [GRCh38] Chr15:28235735..28235743 [GRCh37] Chr15:15q13.1 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1213G>A (p.Gly405Arg) |
single nucleotide variant |
not provided [RCV002590369] |
Chr15:27986613 [GRCh38] Chr15:28231759 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.894G>C (p.Glu298Asp) |
single nucleotide variant |
not provided [RCV003020052] |
Chr15:28014926 [GRCh38] Chr15:28260072 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2475G>A (p.Met825Ile) |
single nucleotide variant |
not provided [RCV003039044] |
Chr15:27755430 [GRCh38] Chr15:28000576 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1158G>T (p.Glu386Asp) |
single nucleotide variant |
not provided [RCV003038491] |
Chr15:27989625 [GRCh38] Chr15:28234771 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1584A>G (p.Arg528=) |
single nucleotide variant |
not provided [RCV002871009] |
Chr15:27966742 [GRCh38] Chr15:28211888 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1255C>G (p.Arg419Gly) |
single nucleotide variant |
not provided [RCV002622151] |
Chr15:27985173 [GRCh38] Chr15:28230319 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1161G>A (p.Thr387=) |
single nucleotide variant |
not provided [RCV002949290] |
Chr15:27989622 [GRCh38] Chr15:28234768 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.677C>T (p.Thr226Met) |
single nucleotide variant |
not provided [RCV002619267] |
Chr15:28018527 [GRCh38] Chr15:28263673 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.197A>G (p.Gln66Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002706703]|not provided [RCV002715729] |
Chr15:28081678 [GRCh38] Chr15:28326824 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.891-2A>G |
single nucleotide variant |
not provided [RCV002979872] |
Chr15:28014931 [GRCh38] Chr15:28260077 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1888T>A (p.Leu630Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002887856] |
Chr15:27951847 [GRCh38] Chr15:28196993 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.205G>A (p.Ala69Thr) |
single nucleotide variant |
not provided [RCV002659162] |
Chr15:28081670 [GRCh38] Chr15:28326816 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter) |
single nucleotide variant |
not provided [RCV003079183] |
Chr15:27755424 [GRCh38] Chr15:28000570 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000275.3(OCA2):c.1045-5del |
deletion |
not provided [RCV002847893] |
Chr15:27990652 [GRCh38] Chr15:28235798 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys) |
single nucleotide variant |
not provided [RCV002979353] |
Chr15:27966734 [GRCh38] Chr15:28211880 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2311G>T (p.Ala771Ser) |
single nucleotide variant |
not provided [RCV002590825] |
Chr15:27851409 [GRCh38] Chr15:28096555 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1637-3C>A |
single nucleotide variant |
not provided [RCV002824637] |
Chr15:27957738 [GRCh38] Chr15:28202884 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1743A>T (p.Ala581=) |
single nucleotide variant |
not provided [RCV003006137] |
Chr15:27957629 [GRCh38] Chr15:28202775 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1488A>T (p.Gln496His) |
single nucleotide variant |
not provided [RCV002626580] |
Chr15:27983360 [GRCh38] Chr15:28228506 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1745T>C (p.Leu582Pro) |
single nucleotide variant |
not provided [RCV002627237] |
Chr15:27957627 [GRCh38] Chr15:28202773 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.761T>G (p.Leu254Arg) |
single nucleotide variant |
OCA2-related condition [RCV003434506]|not provided [RCV002711810] |
Chr15:28018443 [GRCh38] Chr15:28263589 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2271C>G (p.His757Gln) |
single nucleotide variant |
not provided [RCV002666969] |
Chr15:27851449 [GRCh38] Chr15:28096595 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2259G>A (p.Leu753=) |
single nucleotide variant |
not provided [RCV002766925] |
Chr15:27851461 [GRCh38] Chr15:28096607 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1811G>A (p.Trp604Ter) |
single nucleotide variant |
not provided [RCV002876793] |
Chr15:27955189 [GRCh38] Chr15:28200335 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys) |
single nucleotide variant |
OCA2-related condition [RCV003418720]|not provided [RCV003058452] |
Chr15:27926155 [GRCh38] Chr15:28171301 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.28C>T (p.Arg10Trp) |
single nucleotide variant |
not provided [RCV003041217] |
Chr15:28081847 [GRCh38] Chr15:28326993 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.979G>A (p.Val327Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002581100]|not provided [RCV002596496] |
Chr15:28014841 [GRCh38] Chr15:28259987 [GRCh37] Chr15:15q13.1 |
likely benign|uncertain significance |
NM_000275.3(OCA2):c.2094C>T (p.Leu698=) |
single nucleotide variant |
not provided [RCV003005706] |
Chr15:27871908 [GRCh38] Chr15:28117054 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2062C>T (p.Leu688Phe) |
single nucleotide variant |
not provided [RCV003041215] |
Chr15:27926144 [GRCh38] Chr15:28171290 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter) |
single nucleotide variant |
OCA2-related condition [RCV003395573]|not provided [RCV003041216] |
Chr15:28081703 [GRCh38] Chr15:28326849 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1504-15C>T |
single nucleotide variant |
not provided [RCV002786522] |
Chr15:27966837 [GRCh38] Chr15:28211983 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2338+18G>C |
single nucleotide variant |
not provided [RCV002574799] |
Chr15:27851364 [GRCh38] Chr15:28096510 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.485C>T (p.Pro162Leu) |
single nucleotide variant |
not provided [RCV002825770] |
Chr15:28027901 [GRCh38] Chr15:28273047 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1306C>G (p.Leu436Val) |
single nucleotide variant |
not provided [RCV002917332] |
Chr15:27985122 [GRCh38] Chr15:28230268 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1843-19T>C |
single nucleotide variant |
not provided [RCV002625755] |
Chr15:27951911 [GRCh38] Chr15:28197057 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1784+3A>G |
single nucleotide variant |
not provided [RCV002802172] |
Chr15:27957585 [GRCh38] Chr15:28202731 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2177T>C (p.Val726Ala) |
single nucleotide variant |
not provided [RCV002982630] |
Chr15:27871221 [GRCh38] Chr15:28116367 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1116+3A>G |
single nucleotide variant |
not provided [RCV002829198] |
Chr15:27990573 [GRCh38] Chr15:28235719 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1442C>T (p.Ala481Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002916755] |
Chr15:27983406 [GRCh38] Chr15:28228552 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1333A>G (p.Thr445Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002665524] |
Chr15:27985095 [GRCh38] Chr15:28230241 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1513T>G (p.Phe505Val) |
single nucleotide variant |
not provided [RCV002625850] |
Chr15:27966813 [GRCh38] Chr15:28211959 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.515G>C (p.Arg172Thr) |
single nucleotide variant |
not provided [RCV002711934] |
Chr15:28027871 [GRCh38] Chr15:28273017 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1267T>C (p.Trp423Arg) |
single nucleotide variant |
not provided [RCV003025677] |
Chr15:27985161 [GRCh38] Chr15:28230307 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.326+10T>C |
single nucleotide variant |
not provided [RCV002852246] |
Chr15:28032055 [GRCh38] Chr15:28277201 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.330A>G (p.Ser110=) |
single nucleotide variant |
not provided [RCV003024769] |
Chr15:28028056 [GRCh38] Chr15:28273202 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.157A>T (p.Arg53Trp) |
single nucleotide variant |
not provided [RCV002624107] |
Chr15:28081718 [GRCh38] Chr15:28326864 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2223C>A (p.Asn741Lys) |
single nucleotide variant |
not provided [RCV003041212] |
Chr15:27871175 [GRCh38] Chr15:28116321 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.312C>T (p.Ser104=) |
single nucleotide variant |
not provided [RCV002575171] |
Chr15:28032079 [GRCh38] Chr15:28277225 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1114G>A (p.Asp372Asn) |
single nucleotide variant |
not provided [RCV003082572] |
Chr15:27990578 [GRCh38] Chr15:28235724 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003128321]|not provided [RCV003058449] |
Chr15:27755472 [GRCh38] Chr15:28000618 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.1841del (p.Lys614fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459730]|not provided [RCV003058453] |
Chr15:27955159 [GRCh38] Chr15:28200305 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.518G>A (p.Arg173His) |
single nucleotide variant |
not provided [RCV002596709] |
Chr15:28024900 [GRCh38] Chr15:28270046 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2139+15A>G |
single nucleotide variant |
not provided [RCV002741779] |
Chr15:27871848 [GRCh38] Chr15:28116994 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.483C>T (p.Ser161=) |
single nucleotide variant |
not provided [RCV003025574] |
Chr15:28027903 [GRCh38] Chr15:28273049 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2211C>A (p.Ser737=) |
single nucleotide variant |
not provided [RCV002851682] |
Chr15:27871187 [GRCh38] Chr15:28116333 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.455C>T (p.Ser152Phe) |
single nucleotide variant |
not provided [RCV002711078] |
Chr15:28027931 [GRCh38] Chr15:28273077 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys) |
single nucleotide variant |
not provided [RCV003041213] |
Chr15:27871240 [GRCh38] Chr15:28116386 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.386A>G (p.Asp129Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002985803] |
Chr15:28028000 [GRCh38] Chr15:28273146 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1274T>C (p.Met425Thr) |
single nucleotide variant |
not provided [RCV002890940] |
Chr15:27985154 [GRCh38] Chr15:28230300 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2370CGT[1] (p.Val792del) |
microsatellite |
not provided [RCV003058450] |
Chr15:27845016..27845018 [GRCh38] Chr15:28090162..28090164 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459728]|not provided [RCV003058451] |
Chr15:27851397 [GRCh38] Chr15:28096543 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala) |
single nucleotide variant |
OCA2-related condition [RCV003418721]|Oculocutaneous albinism [RCV003331419]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465926]|not provided [RCV003058454] |
Chr15:28032104 [GRCh38] Chr15:28277250 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
NM_000275.3(OCA2):c.1637-12C>G |
single nucleotide variant |
not provided [RCV003031216] |
Chr15:27957747 [GRCh38] Chr15:28202893 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.815A>G (p.His272Arg) |
single nucleotide variant |
not provided [RCV002676559] |
Chr15:28016179 [GRCh38] Chr15:28261325 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2389G>T (p.Ala797Ser) |
single nucleotide variant |
not provided [RCV002602906] |
Chr15:27845002 [GRCh38] Chr15:28090148 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1002G>A (p.Ala334=) |
single nucleotide variant |
not provided [RCV003045061] |
Chr15:28014818 [GRCh38] Chr15:28259964 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1205C>T (p.Ser402Leu) |
single nucleotide variant |
not provided [RCV003064099] |
Chr15:27986621 [GRCh38] Chr15:28231767 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1763G>A (p.Arg588Gln) |
single nucleotide variant |
not provided [RCV003091791] |
Chr15:27957609 [GRCh38] Chr15:28202755 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.34C>A (p.Pro12Thr) |
single nucleotide variant |
not provided [RCV002632497] |
Chr15:28081841 [GRCh38] Chr15:28326987 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1784+1G>A |
single nucleotide variant |
not provided [RCV003064241] |
Chr15:27957587 [GRCh38] Chr15:28202733 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1240-1G>C |
single nucleotide variant |
not provided [RCV003064243] |
Chr15:27985189 [GRCh38] Chr15:28230335 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1045-2A>G |
single nucleotide variant |
not provided [RCV003064244] |
Chr15:27990649 [GRCh38] Chr15:28235795 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1340T>C (p.Leu447Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002719806] |
Chr15:27985088 [GRCh38] Chr15:28230234 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.825G>A (p.Thr275=) |
single nucleotide variant |
not provided [RCV002627928] |
Chr15:28016169 [GRCh38] Chr15:28261315 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1547T>C (p.Ile516Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002959604] |
Chr15:27966779 [GRCh38] Chr15:28211925 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.573+17C>T |
single nucleotide variant |
not provided [RCV003044792] |
Chr15:28024828 [GRCh38] Chr15:28269974 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.516-16A>G |
single nucleotide variant |
not provided [RCV002579719] |
Chr15:28024918 [GRCh38] Chr15:28270064 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.573+14C>G |
single nucleotide variant |
not provided [RCV002716004] |
Chr15:28024831 [GRCh38] Chr15:28269977 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1842+13C>T |
single nucleotide variant |
not provided [RCV002834049] |
Chr15:27955145 [GRCh38] Chr15:28200291 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1119A>G (p.Arg373=) |
single nucleotide variant |
not provided [RCV003028834] |
Chr15:27989664 [GRCh38] Chr15:28234810 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1558C>T (p.Leu520Phe) |
single nucleotide variant |
not provided [RCV003043909] |
Chr15:27966768 [GRCh38] Chr15:28211914 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.891-10C>T |
single nucleotide variant |
not provided [RCV002577370] |
Chr15:28014939 [GRCh38] Chr15:28260085 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.515+6C>T |
single nucleotide variant |
not provided [RCV002576922] |
Chr15:28027865 [GRCh38] Chr15:28273011 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2287C>T (p.Leu763=) |
single nucleotide variant |
not provided [RCV002671689] |
Chr15:27851433 [GRCh38] Chr15:28096579 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2503del (p.Val835fs) |
deletion |
not provided [RCV003064238] |
Chr15:27755402 [GRCh38] Chr15:28000548 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.1951+1G>A |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003459729]|not provided [RCV003064240] |
Chr15:27951783 [GRCh38] Chr15:28196929 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.612G>A (p.Trp204Ter) |
single nucleotide variant |
not provided [RCV003064245] |
Chr15:28022535 [GRCh38] Chr15:28267681 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.808-10_808-9delinsTT |
indel |
not provided [RCV003062036] |
Chr15:28016195..28016196 [GRCh38] Chr15:28261341..28261342 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2309A>G (p.Tyr770Cys) |
single nucleotide variant |
not provided [RCV003047787] |
Chr15:27851411 [GRCh38] Chr15:28096557 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1906A>G (p.Met636Val) |
single nucleotide variant |
not provided [RCV002599298] |
Chr15:27951829 [GRCh38] Chr15:28196975 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.891-12T>C |
single nucleotide variant |
not provided [RCV002647167] |
Chr15:28014941 [GRCh38] Chr15:28260087 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1044+20C>T |
single nucleotide variant |
not provided [RCV002720379] |
Chr15:28014756 [GRCh38] Chr15:28259902 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1183-19CTT[2] |
microsatellite |
not provided [RCV002833503] |
Chr15:27986654..27986656 [GRCh38] Chr15:28231800..28231802 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.961C>T (p.Gln321Ter) |
single nucleotide variant |
not provided [RCV003048171] |
Chr15:28014859 [GRCh38] Chr15:28260005 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1163T>C (p.Leu388Pro) |
single nucleotide variant |
not provided [RCV003048453] |
Chr15:27989620 [GRCh38] Chr15:28234766 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1541T>C (p.Ile514Thr) |
single nucleotide variant |
not provided [RCV003010389] |
Chr15:27966785 [GRCh38] Chr15:28211931 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.352C>A (p.Pro118Thr) |
single nucleotide variant |
not provided [RCV002962914] |
Chr15:28028034 [GRCh38] Chr15:28273180 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2079+18T>C |
single nucleotide variant |
not provided [RCV002806197] |
Chr15:27926109 [GRCh38] Chr15:28171255 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2159G>A (p.Arg720His) |
single nucleotide variant |
not provided [RCV003061606] |
Chr15:27871239 [GRCh38] Chr15:28116385 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1556T>C (p.Val519Ala) |
single nucleotide variant |
not provided [RCV003064242] |
Chr15:27966770 [GRCh38] Chr15:28211916 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1821T>C (p.Asn607=) |
single nucleotide variant |
not provided [RCV002598014] |
Chr15:27955179 [GRCh38] Chr15:28200325 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.849C>T (p.Ser283=) |
single nucleotide variant |
not provided [RCV002832857] |
Chr15:28016145 [GRCh38] Chr15:28261291 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1003A>G (p.Thr335Ala) |
single nucleotide variant |
not provided [RCV002649638] |
Chr15:28014817 [GRCh38] Chr15:28259963 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2433-11_2433-10del |
deletion |
not provided [RCV002577769] |
Chr15:27755482..27755483 [GRCh38] Chr15:28000628..28000629 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.1785A>G (p.Arg595=) |
single nucleotide variant |
not provided [RCV002631954] |
Chr15:27955215 [GRCh38] Chr15:28200361 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1923G>A (p.Ser641=) |
single nucleotide variant |
not provided [RCV002676278] |
Chr15:27951812 [GRCh38] Chr15:28196958 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1491G>C (p.Glu497Asp) |
single nucleotide variant |
not provided [RCV002721469] |
Chr15:27983357 [GRCh38] Chr15:28228503 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.702G>C (p.Gly234=) |
single nucleotide variant |
not provided [RCV002653100] |
Chr15:28018502 [GRCh38] Chr15:28263648 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.157A>G (p.Arg53Gly) |
single nucleotide variant |
not provided [RCV002653233] |
Chr15:28081718 [GRCh38] Chr15:28326864 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1952-19T>G |
single nucleotide variant |
not provided [RCV003050113] |
Chr15:27926273 [GRCh38] Chr15:28171419 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.255C>G (p.Ser85=) |
single nucleotide variant |
not provided [RCV002604961] |
Chr15:28032136 [GRCh38] Chr15:28277282 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1965T>C (p.Ile655=) |
single nucleotide variant |
not provided [RCV002587073] |
Chr15:27926241 [GRCh38] Chr15:28171387 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2043C>A (p.Thr681=) |
single nucleotide variant |
not provided [RCV002589834] |
Chr15:27926163 [GRCh38] Chr15:28171309 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1626T>A (p.Ser542Arg) |
single nucleotide variant |
not provided [RCV002814645] |
Chr15:27966700 [GRCh38] Chr15:28211846 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.728G>A (p.Arg243His) |
single nucleotide variant |
not provided [RCV002653288] |
Chr15:28018476 [GRCh38] Chr15:28263622 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003465971]|not provided [RCV002585444] |
Chr15:27957658 [GRCh38] Chr15:28202804 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000275.3(OCA2):c.807+11T>C |
single nucleotide variant |
not provided [RCV002721978] |
Chr15:28018386 [GRCh38] Chr15:28263532 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.226A>T (p.Arg76Trp) |
single nucleotide variant |
not provided [RCV003073467] |
Chr15:28081649 [GRCh38] Chr15:28326795 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2343C>T (p.Asn781=) |
single nucleotide variant |
not provided [RCV002635072] |
Chr15:27845048 [GRCh38] Chr15:28090194 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2437G>A (p.Gly813Ser) |
single nucleotide variant |
not provided [RCV002608198] |
Chr15:27755468 [GRCh38] Chr15:28000614 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.326G>C (p.Gly109Ala) |
single nucleotide variant |
not provided [RCV002613125] |
Chr15:28032065 [GRCh38] Chr15:28277211 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.2267G>T (p.Ser756Ile) |
single nucleotide variant |
not provided [RCV002607982] |
Chr15:27851453 [GRCh38] Chr15:28096599 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.574-1G>C |
single nucleotide variant |
not provided [RCV002635390] |
Chr15:28022574 [GRCh38] Chr15:28267720 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2338+9C>T |
single nucleotide variant |
not provided [RCV002609942] |
Chr15:27851373 [GRCh38] Chr15:28096519 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.870G>A (p.Arg290=) |
single nucleotide variant |
not provided [RCV002589656] |
Chr15:28016124 [GRCh38] Chr15:28261270 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.638A>T (p.Glu213Val) |
single nucleotide variant |
not provided [RCV002612693] |
Chr15:28022509 [GRCh38] Chr15:28267655 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs) |
deletion |
Oculocutaneous albinism [RCV003155832]|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003466027] |
Chr15:27951821..27951824 [GRCh38] Chr15:28196967..28196970 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 |
copy number loss |
not provided [RCV003222838] |
Chr15:23406271..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2018T>A (p.Ile673Asn) |
single nucleotide variant |
not provided [RCV003133099] |
Chr15:27926188 [GRCh38] Chr15:28171334 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1061T>C (p.Leu354Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003199467] |
Chr15:27990631 [GRCh38] Chr15:28235777 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003213629]|not provided [RCV003312098] |
Chr15:27951889 [GRCh38] Chr15:28197035 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1243T>C (p.Tyr415His) |
single nucleotide variant |
not specified [RCV003324334] |
Chr15:27985185 [GRCh38] Chr15:28230331 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.808-1_817del |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV003319596] |
Chr15:28016177..28016187 [GRCh38] Chr15:28261323..28261333 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1342C>T (p.Leu448Phe) |
single nucleotide variant |
not specified [RCV003324333] |
Chr15:27985086 [GRCh38] Chr15:28230232 [GRCh37] Chr15:15q13.1 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 |
copy number gain |
not provided [RCV003326925] |
Chr15:22742396..28567325 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 |
copy number loss |
not provided [RCV003326926] |
Chr15:23605427..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val) |
single nucleotide variant |
not specified [RCV003331581] |
Chr15:27851441 [GRCh38] Chr15:28096587 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463225] |
Chr15:27983422 [GRCh38] Chr15:28228568 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1183A>G (p.Met395Val) |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003448805] |
Chr15:27986643 [GRCh38] Chr15:28231789 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463221] |
Chr15:28027980 [GRCh38] Chr15:28273126 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.168del (p.Gln58fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463224] |
Chr15:28081707 [GRCh38] Chr15:28326853 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1204dup (p.Ser402fs) |
duplication |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463226] |
Chr15:27986621..27986622 [GRCh38] Chr15:28231767..28231768 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1091del (p.Leu364fs) |
deletion |
not provided [RCV003873440] |
Chr15:27990601 [GRCh38] Chr15:28235747 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1239+1G>T |
single nucleotide variant |
not provided [RCV003569834] |
Chr15:27986586 [GRCh38] Chr15:28231732 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.706dup (p.Leu236fs) |
duplication |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463223] |
Chr15:28018497..28018498 [GRCh38] Chr15:28263643..28263644 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1833C>G (p.Leu611=) |
single nucleotide variant |
not provided [RCV003543385] |
Chr15:27955167 [GRCh38] Chr15:28200313 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2079+11A>G |
single nucleotide variant |
not provided [RCV003875395] |
Chr15:27926116 [GRCh38] Chr15:28171262 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1239+2T>A |
single nucleotide variant |
not provided [RCV003571300] |
Chr15:27986585 [GRCh38] Chr15:28231731 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.786C>T (p.Ser262=) |
single nucleotide variant |
not provided [RCV003543710] |
Chr15:28018418 [GRCh38] Chr15:28263564 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.655_658dup (p.Ser220delinsThrTer) |
duplication |
not provided [RCV003686325] |
Chr15:28018545..28018546 [GRCh38] Chr15:28263691..28263692 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1762C>A (p.Arg588=) |
single nucleotide variant |
not provided [RCV003571599] |
Chr15:27957610 [GRCh38] Chr15:28202756 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.903del (p.Ile302fs) |
deletion |
not provided [RCV003570667] |
Chr15:28014917 [GRCh38] Chr15:28260063 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1914C>T (p.Phe638=) |
single nucleotide variant |
not provided [RCV003570979] |
Chr15:27951821 [GRCh38] Chr15:28196967 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.515+7G>A |
single nucleotide variant |
not provided [RCV003875203] |
Chr15:28027864 [GRCh38] Chr15:28273010 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.515+10C>T |
single nucleotide variant |
not provided [RCV003571553] |
Chr15:28027861 [GRCh38] Chr15:28273007 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs) |
microsatellite |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471628]|Tyrosinase-positive oculocutaneous albinism [RCV003484421] |
Chr15:28081698..28081699 [GRCh38] Chr15:28326844..28326845 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1118_1119del |
microsatellite |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471636] |
Chr15:27989664..27989665 [GRCh38] Chr15:28234810..28234811 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1677G>A (p.Gln559=) |
single nucleotide variant |
not provided [RCV003542987] |
Chr15:27957695 [GRCh38] Chr15:28202841 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2301G>A (p.Pro767=) |
single nucleotide variant |
not provided [RCV003873098] |
Chr15:27851419 [GRCh38] Chr15:28096565 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2361G>C (p.Ala787=) |
single nucleotide variant |
not provided [RCV003569867] |
Chr15:27845030 [GRCh38] Chr15:28090176 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1239+14T>G |
single nucleotide variant |
not provided [RCV003569995] |
Chr15:27986573 [GRCh38] Chr15:28231719 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1117-16T>G |
single nucleotide variant |
not provided [RCV003686170] |
Chr15:27989682 [GRCh38] Chr15:28234828 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.573+14C>T |
single nucleotide variant |
not provided [RCV003686374] |
Chr15:28024831 [GRCh38] Chr15:28269977 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.414C>G (p.Tyr138Ter) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471633] |
Chr15:28027972 [GRCh38] Chr15:28273118 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.891-1G>A |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471637] |
Chr15:28014930 [GRCh38] Chr15:28260076 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.381G>A (p.Trp127Ter) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471639] |
Chr15:28028005 [GRCh38] Chr15:28273151 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 |
copy number gain |
not provided [RCV003485056] |
Chr15:22770422..36556562 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs) |
deletion |
OCA2-related condition [RCV003391402] |
Chr15:27871161..27871174 [GRCh38] Chr15:28116307..28116320 [GRCh37] Chr15:15q13.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 |
copy number gain |
not provided [RCV003485057] |
Chr15:22770422..32915593 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 |
copy number gain |
not provided [RCV003485058] |
Chr15:22770422..29013164 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.646+3A>G |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471627] |
Chr15:28022498 [GRCh38] Chr15:28267644 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2055dup (p.Ala686fs) |
duplication |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471632] |
Chr15:27926150..27926151 [GRCh38] Chr15:28171296..28171297 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 |
copy number loss |
not provided [RCV003483220] |
Chr15:23615769..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000275.3(OCA2):c.2327C>A (p.Ala776Asp) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463222] |
Chr15:27851393 [GRCh38] Chr15:28096539 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1461del (p.Pro488fs) |
deletion |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471631] |
Chr15:27983387 [GRCh38] Chr15:28228533 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1317C>T (p.Phe439=) |
single nucleotide variant |
not provided [RCV003393674] |
Chr15:27985111 [GRCh38] Chr15:28230257 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1951+1215G>T |
single nucleotide variant |
Tyrosinase-positive oculocutaneous albinism [RCV003443472] |
Chr15:27950569 [GRCh38] Chr15:28195715 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1923del (p.Phe642fs) |
deletion |
OCA2-related condition [RCV003420911] |
Chr15:27951812 [GRCh38] Chr15:28196958 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1313C>A (p.Ala438Asp) |
single nucleotide variant |
OCA2-related condition [RCV003420685] |
Chr15:27985115 [GRCh38] Chr15:28230261 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463219] |
Chr15:27985079 [GRCh38] Chr15:28230225 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2395C>T (p.Gln799Ter) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003463220] |
Chr15:27844996 [GRCh38] Chr15:28090142 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs) |
indel |
OCA2-related condition [RCV003416734] |
Chr15:27926190..27926192 [GRCh38] Chr15:28171336..28171338 [GRCh37] Chr15:15q13.1 |
pathogenic |
Single allele |
duplication |
not provided [RCV003448679] |
Chr15:22750407..32516333 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000275.3(OCA2):c.2032_2039delinsTAG (p.Glu678_Ala680delinsTer) |
indel |
OCA2-related condition [RCV003400331] |
Chr15:27926167..27926174 [GRCh38] Chr15:28171313..28171320 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.2244+2T>G |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471629] |
Chr15:27871152 [GRCh38] Chr15:28116298 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1044+1G>A |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471634] |
Chr15:28014775 [GRCh38] Chr15:28259921 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro) |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471626] |
Chr15:27955168 [GRCh38] Chr15:28200314 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2080-2A>T |
single nucleotide variant |
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES [RCV003471638] |
Chr15:27871924 [GRCh38] Chr15:28117070 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.759del (p.Glu253fs) |
deletion |
Tyrosinase-positive oculocutaneous albinism [RCV003443471] |
Chr15:28018445 [GRCh38] Chr15:28263591 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1418T>G (p.Ile473Ser) |
single nucleotide variant |
not specified [RCV003388313] |
Chr15:27983430 [GRCh38] Chr15:28228576 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.573+2_573+3del |
microsatellite |
not provided [RCV003688230] |
Chr15:28024842..28024843 [GRCh38] Chr15:28269988..28269989 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.1182+9del |
deletion |
not provided [RCV003575198] |
Chr15:27989592 [GRCh38] Chr15:28234738 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2214G>C (p.Leu738=) |
single nucleotide variant |
not provided [RCV003716001] |
Chr15:27871184 [GRCh38] Chr15:28116330 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1637-17C>T |
single nucleotide variant |
not provided [RCV003574059] |
Chr15:27957752 [GRCh38] Chr15:28202898 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.647-16C>G |
single nucleotide variant |
not provided [RCV003716021] |
Chr15:28018573 [GRCh38] Chr15:28263719 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.516-10del |
deletion |
not provided [RCV003547508] |
Chr15:28024912 [GRCh38] Chr15:28270058 [GRCh37] Chr15:15q13.1 |
benign |
NM_000275.3(OCA2):c.1504-17C>G |
single nucleotide variant |
not provided [RCV003661928] |
Chr15:27966839 [GRCh38] Chr15:28211985 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.515+11T>G |
single nucleotide variant |
not provided [RCV003715379] |
Chr15:28027860 [GRCh38] Chr15:28273006 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1951+2T>A |
single nucleotide variant |
not provided [RCV003714033] |
Chr15:27951782 [GRCh38] Chr15:28196928 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.987C>G (p.Thr329=) |
single nucleotide variant |
not provided [RCV003547906] |
Chr15:28014833 [GRCh38] Chr15:28259979 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.516-2A>G |
single nucleotide variant |
not provided [RCV003547908] |
Chr15:28024904 [GRCh38] Chr15:28270050 [GRCh37] Chr15:15q13.1 |
likely pathogenic |
NM_000275.3(OCA2):c.511C>T (p.Leu171=) |
single nucleotide variant |
not provided [RCV003688058] |
Chr15:28027875 [GRCh38] Chr15:28273021 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2244+15T>A |
single nucleotide variant |
not provided [RCV003687346] |
Chr15:27871139 [GRCh38] Chr15:28116285 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2298G>A (p.Pro766=) |
single nucleotide variant |
not provided [RCV003545568] |
Chr15:27851422 [GRCh38] Chr15:28096568 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.162G>C (p.Gly54=) |
single nucleotide variant |
not provided [RCV003687458] |
Chr15:28081713 [GRCh38] Chr15:28326859 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1878C>T (p.Cys626=) |
single nucleotide variant |
not provided [RCV003715132] |
Chr15:27951857 [GRCh38] Chr15:28197003 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1932T>C (p.Pro644=) |
single nucleotide variant |
not provided [RCV003544284] |
Chr15:27951803 [GRCh38] Chr15:28196949 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.633G>C (p.Pro211=) |
single nucleotide variant |
not provided [RCV003660734] |
Chr15:28022514 [GRCh38] Chr15:28267660 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.646+17C>G |
single nucleotide variant |
not provided [RCV003662255] |
Chr15:28022484 [GRCh38] Chr15:28267630 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2451G>A (p.Met817Ile) |
single nucleotide variant |
not provided [RCV003662261] |
Chr15:27755454 [GRCh38] Chr15:28000600 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000275.3(OCA2):c.2140-10C>G |
single nucleotide variant |
not provided [RCV003686476] |
Chr15:27871268 [GRCh38] Chr15:28116414 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro) |
single nucleotide variant |
not provided [RCV003712719] |
Chr15:27983469 [GRCh38] Chr15:28228615 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2442C>T (p.Phe814=) |
single nucleotide variant |
not provided [RCV003547409] |
Chr15:27755463 [GRCh38] Chr15:28000609 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.354A>C (p.Pro118=) |
single nucleotide variant |
not provided [RCV003662282] |
Chr15:28028032 [GRCh38] Chr15:28273178 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1854T>G (p.Ser618=) |
single nucleotide variant |
not provided [RCV003690481] |
Chr15:27951881 [GRCh38] Chr15:28197027 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.327-4C>G |
single nucleotide variant |
not provided [RCV003689938] |
Chr15:28028063 [GRCh38] Chr15:28273209 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1307del (p.Leu436fs) |
deletion |
not provided [RCV003686593] |
Chr15:27985121 [GRCh38] Chr15:28230267 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1935dup (p.Ile646fs) |
duplication |
not provided [RCV003689469] |
Chr15:27951799..27951800 [GRCh38] Chr15:28196945..28196946 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1636+8C>T |
single nucleotide variant |
not provided [RCV003824454] |
Chr15:27966682 [GRCh38] Chr15:28211828 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.279C>T (p.Cys93=) |
single nucleotide variant |
not provided [RCV003716599] |
Chr15:28032112 [GRCh38] Chr15:28277258 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.66G>A (p.Thr22=) |
single nucleotide variant |
not provided [RCV003878075] |
Chr15:28081809 [GRCh38] Chr15:28326955 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2502G>A (p.Val834=) |
single nucleotide variant |
not provided [RCV003689492] |
Chr15:27755403 [GRCh38] Chr15:28000549 [GRCh37] Chr15:15q12 |
likely benign |
NM_000275.3(OCA2):c.2043C>T (p.Thr681=) |
single nucleotide variant |
not provided [RCV003713030] |
Chr15:27926163 [GRCh38] Chr15:28171309 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2338+10T>C |
single nucleotide variant |
not provided [RCV003716205] |
Chr15:27851372 [GRCh38] Chr15:28096518 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.515+19C>G |
single nucleotide variant |
not provided [RCV003713569] |
Chr15:28027852 [GRCh38] Chr15:28272998 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1659C>T (p.Val553=) |
single nucleotide variant |
not provided [RCV003714298] |
Chr15:27957713 [GRCh38] Chr15:28202859 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.570T>C (p.Cys190=) |
single nucleotide variant |
not provided [RCV003572555] |
Chr15:28024848 [GRCh38] Chr15:28269994 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1183-7C>G |
single nucleotide variant |
not provided [RCV003687694] |
Chr15:27986650 [GRCh38] Chr15:28231796 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1773_1774insT (p.Thr592fs) |
insertion |
not provided [RCV003547302] |
Chr15:27957598..27957599 [GRCh38] Chr15:28202744..28202745 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1773C>T (p.His591=) |
single nucleotide variant |
not provided [RCV003547316] |
Chr15:27957599 [GRCh38] Chr15:28202745 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2292C>G (p.Pro764=) |
single nucleotide variant |
not provided [RCV003686922] |
Chr15:27851428 [GRCh38] Chr15:28096574 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1117-9del |
deletion |
not provided [RCV003688067] |
Chr15:27989675 [GRCh38] Chr15:28234821 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.633G>T (p.Pro211=) |
single nucleotide variant |
not provided [RCV003689669] |
Chr15:28022514 [GRCh38] Chr15:28267660 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.228-18C>T |
single nucleotide variant |
not provided [RCV003572365] |
Chr15:28032181 [GRCh38] Chr15:28277327 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.300G>C (p.Leu100Phe) |
single nucleotide variant |
not provided [RCV003574510] |
Chr15:28032091 [GRCh38] Chr15:28277237 [GRCh37] Chr15:15q13.1 |
uncertain significance |
NM_000275.3(OCA2):c.1038A>C (p.Ile346=) |
single nucleotide variant |
not provided [RCV003547809] |
Chr15:28014782 [GRCh38] Chr15:28259928 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1131C>A (p.Thr377=) |
single nucleotide variant |
not provided [RCV003546443] |
Chr15:27989652 [GRCh38] Chr15:28234798 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1044+20C>G |
single nucleotide variant |
not provided [RCV003689831] |
Chr15:28014756 [GRCh38] Chr15:28259902 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.460G>T (p.Glu154Ter) |
single nucleotide variant |
not provided [RCV003547871] |
Chr15:28027926 [GRCh38] Chr15:28273072 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1449C>A (p.Ala483=) |
single nucleotide variant |
not provided [RCV003687731] |
Chr15:27983399 [GRCh38] Chr15:28228545 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.573+16G>T |
single nucleotide variant |
not provided [RCV003689259] |
Chr15:28024829 [GRCh38] Chr15:28269975 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1182+9A>C |
single nucleotide variant |
not provided [RCV003690485] |
Chr15:27989592 [GRCh38] Chr15:28234738 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1044+10A>T |
single nucleotide variant |
not provided [RCV003713888] |
Chr15:28014766 [GRCh38] Chr15:28259912 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2244+16C>T |
single nucleotide variant |
not provided [RCV003689487] |
Chr15:27871138 [GRCh38] Chr15:28116284 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.480C>T (p.Asp160=) |
single nucleotide variant |
not provided [RCV003545430] |
Chr15:28027906 [GRCh38] Chr15:28273052 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.1533C>T (p.His511=) |
single nucleotide variant |
not provided [RCV003546983] |
Chr15:27966793 [GRCh38] Chr15:28211939 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.934C>T (p.Gln312Ter) |
single nucleotide variant |
not provided [RCV003689528] |
Chr15:28014886 [GRCh38] Chr15:28260032 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.2022A>G (p.Leu674=) |
single nucleotide variant |
not provided [RCV003876167] |
Chr15:27926184 [GRCh38] Chr15:28171330 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.2432+15C>A |
single nucleotide variant |
not provided [RCV003686985] |
Chr15:27844944 [GRCh38] Chr15:28090090 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.199del (p.Glu67fs) |
deletion |
not provided [RCV003574338] |
Chr15:28081676 [GRCh38] Chr15:28326822 [GRCh37] Chr15:15q13.1 |
pathogenic |
NM_000275.3(OCA2):c.1044+13C>A |
single nucleotide variant |
not provided [RCV003689715] |
Chr15:28014763 [GRCh38] Chr15:28259909 [GRCh37] Chr15:15q13.1 |
likely benign |
NM_000275.3(OCA2):c.646+12C>G |
single nucleotide variant |
not provided [RCV003716337] |
Chr15:28022489 [GRCh38] Chr15:28267635 [GRCh37] Chr15:15q13.1 |
likely benign |