ClinVar for MedGen (Select 337712) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3897934	NM_000372.5(TYR):c.308G>A (p.Cys103Tyr)	TYR (C103Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B	GLikely pathogenic
Select item 3892802	NM_000372.5(TYR):c.1132C>A (p.Gln378Lys)	TYR (Q378K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +1 more	GUncertain significance
Select item 3574121	NM_000372.5(TYR):c.1501C>T (p.Arg501Cys)	TYR (R501C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +3 more	GUncertain significance
Select item 3574120	NM_000372.5(TYR):c.1405G>T (p.Glu469Ter)	TYR (E469*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +2 more	GLikely pathogenic
Select item 3574119	NM_000372.5(TYR):c.1177del (p.Val393fs)	TYR (V393fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1B +2 more	GPathogenic
Select item 3574118	NM_000372.5(TYR):c.994A>G (p.Met332Val)	TYR (M332V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GLikely pathogenic
Select item 3574116	NM_000372.5(TYR):c.867C>A (p.Cys289Ter)	TYR (C289*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +2 more	GPathogenic
Select item 3574115	NM_000372.5(TYR):c.731G>A (p.Cys244Tyr)	TYR (C244Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GLikely pathogenic
Select item 3574114	NM_000372.5(TYR):c.650G>C (p.Arg217Pro)	TYR (R217P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GLikely pathogenic
Select item 3574112	NM_000372.5(TYR):c.549del (p.Ser184fs)	TYR (S184fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1B +2 more	GLikely pathogenic
Select item 3574111	NM_000372.5(TYR):c.485G>A (p.Gly162Glu)	TYR (G162E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GUncertain significance
Select item 3574110	NM_000372.5(TYR):c.353T>A (p.Leu118Ter)	TYR (L118*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +2 more	GLikely pathogenic
Select item 3574109	NM_000372.5(TYR):c.347G>A (p.Arg116Gln)	TYR (R116Q)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GUncertain significance
Select item 3574108	NM_000372.5(TYR):c.49G>A (p.Ala17Thr)	TYR (A17T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GUncertain significance
Select item 3574107	NM_000372.5(TYR):c.16T>A (p.Leu6Met)	TYR (L6M)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GUncertain significance
Select item 3392501	NM_000372.5(TYR):c.692_696del (p.Phe231fs)	TYR (F231fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GLikely pathogenic
Select item 3382415	NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)	TYR (W400*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1A +1 more	GPathogenic
Select item 3381855	NM_000372.5(TYR):c.635G>C (p.Arg212Thr)	TYR (R212T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +1 more	GLikely pathogenic
Select item 3336566	NM_000372.5(TYR):c.902C>G (p.Pro301Arg)	TYR (P301R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3240675	NM_000372.5(TYR):c.820-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	Oculocutaneous albinism type 1A +2 more	GLikely pathogenic
Select item 3068865	NM_000372.5(TYR):c.133C>A (p.Pro45Thr)	TYR (P45T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +3 more	GLikely pathogenic
Select item 3063876	NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)	TYR (E519fs)	Microsatellite (frameshift variant)	Oculocutaneous albinism type 1A +3 more	GUncertain significance
Select item 3000471	NM_000372.5(TYR):c.696del (p.Ile233fs)	TYR (I233fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 2989319	NM_000372.5(TYR):c.838G>T (p.Glu280Ter)	TYR (E280*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2899498	NM_000372.5(TYR):c.1322C>A (p.Ser441Ter)	TYR (S441*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 2735734	NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)	TYR (W400C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 2735722	NM_000372.5(TYR):c.425A>T (p.Lys142Met)	TYR (K142M)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic
Select item 2704873	NM_000372.5(TYR):c.1130T>A (p.Val377Glu)	TYR (V377E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2679413	NM_000372.5(TYR):c.440C>G (p.Ser147Ter)	TYR (S147*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +1 more	GPathogenic/Likely pathogenic
Select item 2679408	NM_000372.5(TYR):c.241C>T (p.Pro81Ser)	TYR (P81S)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 2679405	NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)	TYR (S349fs)	Insertion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 2679404	NM_000372.5(TYR):c.1427_1430dup (p.Trp477fs)	TYR (W477fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GLikely pathogenic
Select item 2580971	NM_000372.5(TYR):c.1109T>A (p.Met370Lys)	TYR (M370K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +1 more	GLikely pathogenic
Select item 2501774	NM_000372.5(TYR):c.1322del (p.Ser441fs)	TYR (S441fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1B +1 more	GPathogenic
Select item 2501773	NM_144969.3(ZDHHC15):c.448A>G (p.Met150Val)	ZDHHC15 (M141V +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B	GUncertain significance
Select item 2498161	NM_000372.5(TYR):c.97A>G (p.Lys33Glu)	TYR (K33E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B	GLikely pathogenic
Select item 2137234	NM_000372.5(TYR):c.1037-3C>G	TYR	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 2137228	NM_000372.5(TYR):c.593T>C (p.Ile198Thr)	TYR (I198T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +4 more	GPathogenic/Likely pathogenic
Select item 2137224	NM_000372.5(TYR):c.229C>G (p.Arg77Gly)	TYR (R77G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GPathogenic
Select item 1699463	NM_000372.5(TYR):c.1237del (p.Glu413fs)	TYR (E413fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1B +1 more	GPathogenic
Select item 1661114	NM_000372.5(TYR):c.1036+13T>A	TYR	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1596806	NM_000372.5(TYR):c.48C>T (p.Ser16=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 1A +3 more	GLikely benign
Select item 1506678	NM_000372.5(TYR):c.1099C>T (p.His367Tyr)	TYR (H367Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GLikely pathogenic
Select item 1501820	NM_000372.5(TYR):c.820-3del	TYR	Deletion (intron variant)	Oculocutaneous albinism type 1A +3 more	GLikely pathogenic
Select item 1500300	NM_000372.5(TYR):c.1343A>G (p.Asp448Gly)	TYR (D448G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1465246	NM_000372.5(TYR):c.547G>A (p.Val183Met)	TYR (V183M)	Single nucleotide variant (missense variant)	TYR-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1462175	NM_000372.5(TYR):c.604C>T (p.His202Tyr)	TYR (H202Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +4 more	GConflicting classifications of pathogenicity
Select item 1458819	NM_000372.5(TYR):c.606T>G (p.His202Gln)	TYR (H202Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1458014	NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)	TYR (Y369C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1458009	NM_000372.5(TYR):c.862_863del (p.Leu288fs)	TYR (L288fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1455534	NM_000372.5(TYR):c.626C>T (p.Pro209Leu)	TYR (P209L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1453014	NM_000372.5(TYR):c.216del (p.Val74fs)	TYR (V74fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic
Select item 1442280	NM_000372.5(TYR):c.290G>T (p.Gly97Val)	TYR (G97V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 1438484	NM_000372.5(TYR):c.892C>T (p.Arg298Trp)	TYR (R298W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1438386	NM_000372.5(TYR):c.773_774del (p.Thr258fs)	TYR (T258fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1390436	NM_000372.5(TYR):c.71G>A (p.Cys24Tyr)	TYR (C24Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +4 more	GPathogenic
Select item 1381832	NM_000372.5(TYR):c.1366+1G>T	TYR	Single nucleotide variant (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 1377526	NM_000372.5(TYR):c.389A>T (p.Glu130Val)	TYR (E130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1336102	NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)	TYR (K503N)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GUncertain significance
Select item 1301878	NM_000372.5(TYR):c.[1205G>A;575C>A]	TYR (S192Y +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +1 more	GLikely pathogenic
Select item 1301877	NM_000372.5(TYR):c.755T>G (p.Met252Arg)	TYR (M252R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GConflicting classifications of pathogenicity
Select item 1284359	NM_000372.5(TYR):c.895C>T (p.Arg299Cys)	TYR (R299C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic
Select item 1193414	NM_000372.5(TYR):c.1259A>G (p.His420Arg)	TYR (H420R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GConflicting classifications of pathogenicity
Select item 1175803	NM_000372.5(TYR):c.1036+1G>A	TYR	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 1027642	NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer)	TYR	Deletion (frameshift variant)	Oculocutaneous albinism type 1B	GPathogenic
Select item 992661	GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160	TYR	Copy number loss	Oculocutaneous albinism type 1B	GPathogenic
Select item 818005	NM_000372.5(TYR):c.938_939dup (p.Ser314fs)	TYR (S314fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 800543	NM_000372.5(TYR):c.1185-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 800539	NM_000372.5(TYR):c.391_393del (p.Lys131del)	TYR (K131del)	Deletion (inframe_deletion)	Oculocutaneous albinism type 1A +3 more	GConflicting classifications of pathogenicity
Select item 689488	NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	TYR (G41R)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 637017	NM_000372.5(TYR):c.1456del (p.Ala486fs)	TYR (A486fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 625851	NM_000372.5(TYR):c.1110G>A (p.Met370Ile)	TYR (M370I)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 617799	NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	TYR (G346E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +5 more	GPathogenic/Likely pathogenic
Select item 596867	NM_000372.5(TYR):c.1037-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +11 more	GConflicting classifications of pathogenicity
Select item 499705	NM_000372.5(TYR):c.665T>C (p.Ile222Thr)	TYR (I222T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +5 more	GConflicting classifications of pathogenicity
Select item 497973	NM_000372.5(TYR):c.1392dup (p.Lys465Ter)	TYR (K465*)	Duplication (nonsense)	Oculocutaneous albinism type 1 +4 more	GPathogenic/Likely pathogenic
Select item 449543	NM_000372.5(TYR):c.655G>A (p.Glu219Lys)	TYR (E219K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 437182	NM_000372.5(TYR):c.635G>A (p.Arg212Lys)	TYR (R212K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 437177	NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	TYR (E294K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 418532	NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	TYR (D305E)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +6 more	GConflicting classifications of pathogenicity
Select item 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 212522	NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)	TYR (Y149C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 212520	NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	TYR (A355V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic/Likely pathogenic
Select item 196258	NM_000372.5(TYR):c.1067A>T (p.Asp356Val)	TYR (D356V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +3 more	GUncertain significance
Select item 190217	NM_000372.5(TYR):c.902C>T (p.Pro301Leu)	TYR (P301L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 144106	NM_000372.5(TYR):c.739T>C (p.Cys247Arg)	TYR (C247R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +1 more	GLikely pathogenic
Select item 144105	NM_000372.5(TYR):c.551C>G (p.Ser184Ter)	TYR (S184*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 144104	NM_000372.5(TYR):c.163T>G (p.Cys55Gly)	TYR (C55G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +1 more	Gnot provided
Select item 99585	NM_000372.5(TYR):c.875C>T (p.Thr292Met)	TYR (T292M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 99582	NM_000372.5(TYR):c.820-3C>G	TYR	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic/Likely pathogenic
Select item 99574	NM_000372.5(TYR):c.649del (p.Arg217fs)	TYR (R217fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 99572	NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	TYR (P205T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +4 more	GPathogenic/Likely pathogenic
Select item 99570	NM_000372.5(TYR):c.572del (p.Gly191fs)	TYR (G191fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1A +3 more	GPathogenic
Select item 99565	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	TYR (R116*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1A +4 more	GPathogenic
Select item 99563	NM_000372.5(TYR):c.338_339del (p.Thr113fs)	TYR (T113fs)	Microsatellite (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 99562	NM_000372.5(TYR):c.325G>A (p.Gly109Arg)	TYR (G109R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1A +9 more	GPathogenic/Likely pathogenic
Select item 99554	NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	TYR	Duplication (inframe_insertion)	not provided +3 more	GPathogenic/Likely pathogenic

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