ClinVar for MedGen (Select 1643910) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25809711.	NM_000372.5(TYR):c.1109T>A (p.Met370Lys) GRCh37: Chr11:88961063 GRCh38: Chr11:89227895	TYR	M370K	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B	Likely pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 16989302.	NM_000372.5(TYR):c.1493del (p.Leu498fs) GRCh37: Chr11:89028436 GRCh38: Chr11:89295268	TYR	L498fs	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 16611143.	NM_000372.5(TYR):c.1036+13T>A GRCh37: Chr11:88924599 GRCh38: Chr11:89191431	TYR		Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15968064.	NM_000372.5(TYR):c.48C>T (p.Ser16=) GRCh37: Chr11:88911169 GRCh38: Chr11:89178001	TYR		Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14384845.	NM_000372.5(TYR):c.892C>T (p.Arg298Trp) GRCh37: Chr11:88924442 GRCh38: Chr11:89191274	TYR	R298W	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13775266.	NM_000372.5(TYR):c.389A>T (p.Glu130Val) GRCh37: Chr11:88911510 GRCh38: Chr11:89178342	TYR	E130V	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13392197.	NM_000372.5(TYR):c.157G>C (p.Gly53Arg) GRCh37: Chr11:88911278 GRCh38: Chr11:89178110	TYR	G53R	not provided, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 14, 2021)	criteria provided, conflicting interpretations
Select item 13389748.	NM_000372.5(TYR):c.1202T>C (p.Leu401Pro) GRCh37: Chr11:89017958 GRCh38: Chr11:89284790	TYR	L401P	Tyrosinase-negative oculocutaneous albinism	Uncertain significance	criteria provided, single submitter
Select item 13361029.	NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) GRCh37: Chr11:89028453 GRCh38: Chr11:89295285	TYR	K503N	not specified, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	Uncertain significance (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132027110.	NM_000372.5(TYR):c.1039T>C (p.Phe347Leu) GRCh37: Chr11:88960993 GRCh38: Chr11:89227825	TYR	F347L	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 130187811.	NM_000372.5(TYR):c.[1205G>A;575C>A] GRCh37: Chr11:88911696 Chr11:89017961 GRCh38: Chr11:89178528 Chr11:89284793	TYR, TYR	S192Y, R402Q	Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130187712.	NM_000372.5(TYR):c.755T>G (p.Met252Arg) GRCh37: Chr11:88911876 GRCh38: Chr11:89178708	TYR	M252R	not provided	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 129954013.	NM_000372.5(TYR):c.859dup (p.Ser287fs) GRCh37: Chr11:88924408-88924409 GRCh38: Chr11:89191240-89191241	TYR	S287fs	Tyrosinase-negative oculocutaneous albinism	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 118080914.	NM_000372.5(TYR):c.996G>A (p.Met332Ile) GRCh37: Chr11:88924546 GRCh38: Chr11:89191378	TYR	M332I	Abnormality of the skin, not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117580315.	NM_000372.5(TYR):c.1036+1G>A GRCh37: Chr11:88924587 GRCh38: Chr11:89191419	TYR		not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106611116.	NM_000372.5(TYR):c.132T>A (p.Ser44Arg) GRCh37: Chr11:88911253 GRCh38: Chr11:89178085	TYR	S44R	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99600217.	NM_000372.5(TYR):c.1101C>A (p.His367Gln) GRCh37: Chr11:88961055 GRCh38: Chr11:89227887	TYR	H367Q	not provided, Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80054318.	NM_000372.5(TYR):c.1185-2A>G GRCh37: Chr11:89017939 GRCh38: Chr11:89284771	TYR		Tyrosinase-negative oculocutaneous albinism, not provided, Oculocutaneous albinism type 1B	Pathogenic (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80053919.	NM_000372.5(TYR):c.391_393del (p.Lys131del) GRCh37: Chr11:88911510-88911512 GRCh38: Chr11:89178342-89178344	TYR	K131del	Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 78537320.	NM_000372.5(TYR):c.573A>G (p.Gly191=) GRCh37: Chr11:88911694 GRCh38: Chr11:89178526	TYR		Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 68948821.	NM_000372.5(TYR):c.121G>A (p.Gly41Arg) GRCh37: Chr11:88911242 GRCh38: Chr11:89178074	TYR	G41R	not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 63701722.	NM_000372.5(TYR):c.1456del (p.Ala486fs) GRCh37: Chr11:89028397 GRCh38: Chr11:89295229	TYR	A486fs	Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62759823.	NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del GRCh37: Chr11:88911941-89017940 GRCh38: Chr11:89178773-89284772	TYR		Tyrosinase-negative oculocutaneous albinism	Pathogenic (Mar 26, 2019)	no assertion criteria provided
Select item 62759724.	NM_000372.5(TYR):c.1198T>A (p.Trp400Arg) GRCh37: Chr11:89017954 GRCh38: Chr11:89284786	TYR	W400R	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Mar 26, 2019)	no assertion criteria provided
Select item 62759625.	NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) GRCh37: Chr11:89018031 GRCh38: Chr11:89284863	TYR	Y425*	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 62759526.	NM_000372.5(TYR):c.529G>C (p.Val177Leu) GRCh37: Chr11:88911650 GRCh38: Chr11:89178482	TYR	V177L	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Mar 26, 2019)	no assertion criteria provided
Select item 62759427.	NM_000372.5(TYR):c.157G>T (p.Gly53Cys) GRCh37: Chr11:88911278 GRCh38: Chr11:89178110	TYR	G53C	not provided	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 62585128.	NM_000372.5(TYR):c.1110G>A (p.Met370Ile) GRCh37: Chr11:88961064 GRCh38: Chr11:89227896	TYR	M370I	Tyrosinase-negative oculocutaneous albinism	Pathogenic (Feb 27, 2019)	criteria provided, single submitter
Select item 62058729.	NM_000372.5(TYR):c.714G>A (p.Trp238Ter) GRCh37: Chr11:88911835 GRCh38: Chr11:89178667	TYR	W238*	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61779930.	NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) GRCh37: Chr11:88960991 GRCh38: Chr11:89227823	TYR	G346E	Abnormality of the skin, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, not provided, Oculocutaneous albinism	Pathogenic/Likely pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61779431.	NM_000372.5(TYR):c.164G>C (p.Cys55Ser) GRCh37: Chr11:88911285 GRCh38: Chr11:89178117	TYR	C55S	Tyrosinase-negative oculocutaneous albinism	Uncertain significance	criteria provided, single submitter
Select item 59686732.	NM_000372.5(TYR):c.1037-2A>G GRCh37: Chr11:88960989 GRCh38: Chr11:89227821	TYR		not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59645833.	NM_000372.5(TYR):c.1161T>C (p.Leu387=) GRCh37: Chr11:88961115 GRCh38: Chr11:89227947	TYR		Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 58529034.	NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) GRCh37: Chr11:88911508-88911510 GRCh38: Chr11:89178340-89178342	TYR	E130fs	Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58528235.	NM_000372.5(TYR):c.1267del (p.Glu423fs) GRCh37: Chr11:89018021 GRCh38: Chr11:89284853	TYR	E423fs	Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58528036.	NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) GRCh37: Chr11:88924530 GRCh38: Chr11:89191362	TYR	Y327C	Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 52336337.	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) GRCh37: Chr11:89018108 GRCh38: Chr11:89284940	TYR	Y451C	Albinism, Fair hair, Hypopigmentation of the skin, Ocular albinism, Horizontal nystagmus, Abnormal retinal morphology, Strabismus, Abnormal optic nerve morphology, not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B ...see more	Likely pathogenic (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49970538.	NM_000372.5(TYR):c.665T>C (p.Ile222Thr) GRCh37: Chr11:88911786 GRCh38: Chr11:89178618	TYR	I222T	not provided, Oculocutaneous albinism, not specified, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 49956939.	NM_000372.5(TYR):c.1446G>C (p.Ala482=) GRCh37: Chr11:89028390 GRCh38: Chr11:89295222	TYR		Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism	Uncertain significance (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49797340.	NM_000372.5(TYR):c.1392dup (p.Lys465Ter) GRCh37: Chr11:89028334-89028335 GRCh38: Chr11:89295166-89295167	TYR	K465*	Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Likely pathogenic (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44954341.	NM_000372.5(TYR):c.655G>A (p.Glu219Lys) GRCh37: Chr11:88911776 GRCh38: Chr11:89178608	TYR	E219K	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44954142.	NM_000372.5(TYR):c.116G>A (p.Trp39Ter) GRCh37: Chr11:88911237 GRCh38: Chr11:89178069	TYR	W39*	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43798743.	NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) GRCh37: Chr11:89018020 GRCh38: Chr11:89284852	TYR	R422W	Tyrosinase-negative oculocutaneous albinism, not provided	Pathogenic/Likely pathogenic (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43798644.	NM_000372.5(TYR):c.1037G>T (p.Gly346Val) GRCh37: Chr11:88960991 GRCh38: Chr11:89227823	TYR	G346V	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43718245.	NM_000372.5(TYR):c.635G>A (p.Arg212Lys) GRCh37: Chr11:88911756 GRCh38: Chr11:89178588	TYR	R212K	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43718146.	NM_000372.5(TYR):c.452T>G (p.Ile151Ser) GRCh37: Chr11:88911573 GRCh38: Chr11:89178405	TYR	I151S	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Mar 20, 2017)	criteria provided, single submitter
Select item 43717947.	NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) GRCh37: Chr11:88924586 GRCh38: Chr11:89191418	TYR	G346*	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1, not provided	Pathogenic/Likely pathogenic (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43717748.	NM_000372.5(TYR):c.880G>A (p.Glu294Lys) GRCh37: Chr11:88924430 GRCh38: Chr11:89191262	TYR	E294K	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43717549.	NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) GRCh37: Chr11:88911874 GRCh38: Chr11:89178706	TYR	Y251*	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43717450.	NM_000372.5(TYR):c.101A>C (p.Glu34Ala) GRCh37: Chr11:88911222 GRCh38: Chr11:89178054	TYR	E34A	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Aug 18, 2016)	criteria provided, single submitter
Select item 42473051.	NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]			Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Feb 5, 2015)	criteria provided, single submitter
Select item 41853252.	NM_000372.5(TYR):c.915C>A (p.Asp305Glu) GRCh37: Chr11:88924465 GRCh38: Chr11:89191297	TYR	D305E	not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 37965753.	NM_000372.5(TYR):c.976C>T (p.Gln326Ter) GRCh37: Chr11:88924526 GRCh38: Chr11:89191358	TYR	Q326*	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37391154.	NM_000372.5(TYR):c.74dup (p.Ser26fs) GRCh37: Chr11:88911194-88911195 GRCh38: Chr11:89178026-89178027	TYR	S26fs	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28825155.	NM_000372.5(TYR):c.504C>T (p.Asn168=) GRCh37: Chr11:88911625 GRCh38: Chr11:89178457	TYR		Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 21270556.	NM_000372.5(TYR):c.580del (p.Ile194fs) GRCh37: Chr11:88911699 GRCh38: Chr11:89178531	TYR	I194fs	not provided	Pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 21252557.	NM_000372.5(TYR):c.982G>A (p.Glu328Lys) GRCh37: Chr11:88924532 GRCh38: Chr11:89191364	TYR	E328K	Tyrosinase-negative oculocutaneous albinism, not specified	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 21252458.	NM_000372.5(TYR):c.661G>A (p.Glu221Lys) GRCh37: Chr11:88911782 GRCh38: Chr11:89178614	TYR	E221K	Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21252359.	NM_000372.5(TYR):c.658C>T (p.Gln220Ter) GRCh37: Chr11:88911779 GRCh38: Chr11:89178611	TYR	Q220*	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21252260.	NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) GRCh37: Chr11:88911567 GRCh38: Chr11:89178399	TYR	Y149C	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21252161.	NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) GRCh37: Chr11:89017990 GRCh38: Chr11:89284822	TYR	P412A	not provided, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Jul 22, 2021)	criteria provided, conflicting interpretations
Select item 21252062.	NM_000372.5(TYR):c.1064C>T (p.Ala355Val) GRCh37: Chr11:88961018 GRCh38: Chr11:89227850	TYR	A355V	not provided, Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 19625863.	NM_000372.5(TYR):c.1067A>T (p.Asp356Val) GRCh37: Chr11:88961021 GRCh38: Chr11:89227853	TYR	D356V	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14410664.	NM_000372.5(TYR):c.739T>C (p.Cys247Arg) GRCh37: Chr11:88911860 GRCh38: Chr11:89178692	TYR	C247R	not provided, Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14410565.	NM_000372.5(TYR):c.551C>G (p.Ser184Ter) GRCh37: Chr11:88911672 GRCh38: Chr11:89178504	TYR	S184*	Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism	Likely pathogenic	no assertion criteria provided
Select item 14410466.	NM_000372.5(TYR):c.163T>G (p.Cys55Gly) GRCh37: Chr11:88911284 GRCh38: Chr11:89178116	TYR	C55G	Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism	not provided	no assertion provided
Select item 9958767.	NM_000372.5(TYR):c.895C>A (p.Arg299Ser) GRCh37: Chr11:88924445 GRCh38: Chr11:89191277	TYR	R299S	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9958568.	NM_000372.5(TYR):c.875C>T (p.Thr292Met) GRCh37: Chr11:88924425 GRCh38: Chr11:89191257	TYR	T292M	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided	Uncertain significance (Jan 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9958369.	NM_000372.5(TYR):c.832C>T (p.Arg278Ter) GRCh37: Chr11:88924382 GRCh38: Chr11:89191214	TYR	R278*	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9958270.	NM_000372.5(TYR):c.820-3C>G GRCh37: Chr11:88924367 GRCh38: Chr11:89191199	TYR		Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9957971.	NM_000372.5(TYR):c.757G>A (p.Gly253Arg) GRCh37: Chr11:88911878 GRCh38: Chr11:89178710	TYR	G253R	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9957572.	NM_000372.5(TYR):c.650G>A (p.Arg217Gln) GRCh37: Chr11:88911771 GRCh38: Chr11:89178603	TYR	R217Q	Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9957273.	NM_000372.5(TYR):c.613C>A (p.Pro205Thr) GRCh37: Chr11:88911734 GRCh38: Chr11:89178566	TYR	P205T	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9957074.	NM_000372.5(TYR):c.572del (p.Gly191fs) GRCh37: Chr11:88911689 GRCh38: Chr11:89178521	TYR	G191fs	Tyrosinase-negative oculocutaneous albinism, not provided	Pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9956575.	NM_000372.5(TYR):c.346C>T (p.Arg116Ter) GRCh37: Chr11:88911467 GRCh38: Chr11:89178299	TYR	R116*	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9956376.	NM_000372.5(TYR):c.338_339del (p.Thr113fs) GRCh37: Chr11:88911457-88911458 GRCh38: Chr11:89178289-89178290	TYR	T113fs	Tyrosinase-negative oculocutaneous albinism, not provided	Pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9955377.	NM_000372.5(TYR):c.229C>T (p.Arg77Trp) GRCh37: Chr11:88911350 GRCh38: Chr11:89178182	TYR	R77W	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9954878.	NM_000372.5(TYR):c.1366+4A>G GRCh37: Chr11:89018126 GRCh38: Chr11:89284958	TYR		Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism, not specified, not provided, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 9954279.	NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) GRCh37: Chr11:89017960 GRCh38: Chr11:89284792	TYR	R402*	not provided, Abnormality of the skin, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9954180.	NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) GRCh37: Chr11:89017955 GRCh38: Chr11:89284787	TYR	W400L	Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism, not provided	Pathogenic/Likely pathogenic (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9953481.	NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) GRCh37: Chr11:88961065 GRCh38: Chr11:89227897	TYR	N371Y	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9953282.	NM_000372.5(TYR):c.1100A>G (p.His367Arg) GRCh37: Chr11:88961054 GRCh38: Chr11:89227886	TYR	H367R	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Feb 3, 2016)	criteria provided, single submitter
Select item 9952883.	NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) GRCh37: Chr11:88961017 GRCh38: Chr11:89227849	TYR	A355P	not provided, Tyrosinase-negative oculocutaneous albinism	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 9952784.	NM_000372.5(TYR):c.1037-7T>A GRCh37: Chr11:88960984 GRCh38: Chr11:89227816	TYR		Myopia, Albinism, Nystagmus, Abnormality of the skin, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinismOculocutaneous albinism type 1B, not provided, Ocular albinism, ...see more	Pathogenic/Likely pathogenic (Sep 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9952685.	NM_000372.5(TYR):c.1037-1G>A GRCh37: Chr11:88960990 GRCh38: Chr11:89227822	TYR		not provided, Tyrosinase-negative oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	Pathogenic/Likely pathogenic (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3997786.	NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) GRCh37: Chr11:88911393 GRCh38: Chr11:89178225	TYR	C91Y	not provided	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 380787.	NM_000372.5(TYR):c.1A>G (p.Met1Val) GRCh37: Chr11:88911122 GRCh38: Chr11:89177954	TYR	M1V	Albinism, Slow decrease in visual acuity, Abnormality of metabolism/homeostasis, Hypoplasia of the fovea, Choroidal neovascularization, Elevated hepatic transaminase, Albinism, Nystagmus, Myopia, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinismOcular albinism with congenital sensorineural hearing loss, Oculocutaneous albinism type 1B, Oculocutaneous albinism, not provided, Tyrosinase-negative oculocutaneous albinism, Hypopigmentation of the skin, Iris transillumination defect, Horizontal nystagmus, Hypopigmentation of hair, Abnormality of the skin, ...see more	Pathogenic/Likely pathogenic (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 380688.	NM_000372.5(TYR):c.646T>A (p.Leu216Met) GRCh37: Chr11:88911767 GRCh38: Chr11:89178599	TYR	L216M	not provided	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 380589.	NM_000372.5(TYR):c.707G>A (p.Trp236Ter) GRCh37: Chr11:88911828 GRCh38: Chr11:89178660	TYR	W236*	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 380490.	NM_000372.5(TYR):c.1501dup (p.Arg501fs) GRCh37: Chr11:89028444-89028445 GRCh38: Chr11:89295276-89295277	TYR	R501fs	Tyrosinase-negative oculocutaneous albinism	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 380391.	NM_000372.5(TYR):c.1467dup (p.Ala490fs) GRCh37: Chr11:89028410-89028411 GRCh38: Chr11:89295242-89295243	TYR	A490fs	not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Aug 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 380292.	NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) GRCh37: Chr11:89018098 GRCh38: Chr11:89284930	TYR	D448N	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 380193.	NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) GRCh37: Chr11:89018092 GRCh38: Chr11:89284924	TYR	G446S	Oculocutaneous albinism, not provided, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism type 1B, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 380094.	NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) GRCh37: Chr11:89017965 GRCh38: Chr11:89284797	TYR	R403S	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 379995.	NM_000372.5(TYR):c.1164del (p.His389fs) GRCh37: Chr11:88961117 GRCh38: Chr11:89227949	TYR	H389fs	not provided	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 379896.	NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) GRCh37: Chr11:88961066 GRCh38: Chr11:89227898	TYR	N371T	not provided	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 379697.	NM_000372.5(TYR):c.896G>A (p.Arg299His) GRCh37: Chr11:88924446 GRCh38: Chr11:89191278	TYR	R299H	not provided, Tyrosinase-negative oculocutaneous albinism, See cases	Pathogenic (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 379598.	NM_000372.5(TYR):c.649C>T (p.Arg217Trp) GRCh37: Chr11:88911770 GRCh38: Chr11:89178602	TYR	R217W	Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, not provided, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B	Conflicting interpretations of pathogenicity (Jun 22, 2023)	criteria provided, conflicting interpretations
Select item 379499.	NM_000372.5(TYR):c.140G>A (p.Gly47Asp) GRCh37: Chr11:88911261 GRCh38: Chr11:89178093	TYR	G47D	not provided, Inborn genetic diseases, Tyrosinase-negative oculocutaneous albinism, Oculocutaneous albinism type 1B, Ocular albinism with congenital sensorineural hearing loss, Tyrosinase-negative oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	Pathogenic/Likely pathogenic (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3793100.	NM_000372.5(TYR):c.61C>T (p.Pro21Ser) GRCh37: Chr11:88911182 GRCh38: Chr11:89178014	TYR	P21S	not provided, Tyrosinase-negative oculocutaneous albinism	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts

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