ClinVar for MedGen (Select 337712) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2679405	NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)	TYR (S349fs)	Insertion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 2580971	NM_000372.5(TYR):c.1109T>A (p.Met370Lys)	TYR (M370K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +1 more	GLikely pathogenic
Select item 2501774	NM_000372.5(TYR):c.1322del (p.Ser441fs)	TYR (S441fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 1B	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 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)	Tyrosinase-negative oculocutaneous albinism +3 more	GLikely benign
Select item 1596806	NM_000372.5(TYR):c.48C>T (p.Ser16=)	TYR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1438484	NM_000372.5(TYR):c.892C>T (p.Arg298Trp)	TYR (R298W)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GUncertain significance
Select item 1377526	NM_000372.5(TYR):c.389A>T (p.Glu130Val)	TYR (E130V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1336102	NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)	TYR (K503N)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +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)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely 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 800543	NM_000372.5(TYR):c.1185-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 800539	NM_000372.5(TYR):c.391_393del (p.Lys131del)	TYR (K131del)	Deletion (inframe_deletion)	not provided +2 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 +2 more	GLikely pathogenic
Select item 617799	NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	TYR (G346E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +5 more	GPathogenic/Likely pathogenic
Select item 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	Albinism +10 more	GPathogenic/Likely pathogenic
Select item 497973	NM_000372.5(TYR):c.1392dup (p.Lys465Ter)	TYR (K465*)	Duplication (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 418532	NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	TYR (D305E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +3 more	GPathogenic
Select item 196258	NM_000372.5(TYR):c.1067A>T (p.Asp356Val)	TYR (D356V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 144106	NM_000372.5(TYR):c.739T>C (p.Cys247Arg)	TYR (C247R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +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)	Tyrosinase-negative oculocutaneous albinism +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 99565	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	TYR (R116*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 99548	NM_000372.5(TYR):c.1366+4A>G	TYR	Single nucleotide variant (intron variant)	Oculocutaneous albinism +6 more	GConflicting classifications of pathogenicity
Select item 99541	NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	TYR (W400L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic/Likely pathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 99526	NM_000372.5(TYR):c.1037-1G>A	TYR	Single nucleotide variant (splice acceptor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Hypopigmentation of the skin +18 more	GPathogenic/Likely pathogenic
Select item 3803	NM_000372.5(TYR):c.1467dup (p.Ala490fs)	TYR (A490fs)	Duplication (frameshift variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 3801	NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	TYR (G446S)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 3796	NM_000372.5(TYR):c.896G>A (p.Arg299His)	TYR (R299H)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 3795	NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	TYR (R217W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GConflicting classifications of pathogenicity
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 3792	NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	TYR (G419R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic
Select item 3790	NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	TYR (C55Y)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 3782	NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	TYR (R422Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 3779	NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	TYR (R402Q)	Single nucleotide variant (missense variant)	Albinism or congenital nystagmus +5 more	GConflicting classifications of pathogenicity; other
Select item 3778	NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	TYR (S192Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +7 more	GPathogenic/Likely pathogenic
Select item 3776	NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	TYR (R77Q)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 3775	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	TYR (D383N)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +6 more	GPathogenic
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 3773	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	TYR (V275F)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic/Likely pathogenic
Select item 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +7 more	GPathogenic

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Items: 51