"Laboratoire de Génétique Moléculaire, CHU Bordeaux"[submitter] AND "O - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2137622	NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)	OCA2 (R787S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 803060	NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	OCA2 (A763T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 436090	NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	OCA2 (G780D +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 429697	NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	OCA2 (C777Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 845735	NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)	OCA2 (G751D +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 2430237	NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)	OCA2 (H673Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1176625	NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe)	OCA2 (L637F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2430233	NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)	OCA2 (K601R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430235	NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)	OCA2 (F569S +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430236	NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)	OCA2 (S470F +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1211398	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	OCA2 (T426M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 955	NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	OCA2 (V443I +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +5 more	GPathogenic/Likely pathogenic
Select item 2430239	NM_000275.3(OCA2):c.1116+6T>C	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2152220	NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])	OCA2	Microsatellite (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193574	NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	OCA2 (A368V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 255717	NM_000275.3(OCA2):c.1080C>T (p.Ser360=)	OCA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1451123	NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp)	OCA2 (G359D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2430238	NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)	OCA2 (A355E)	Single nucleotide variant (missense variant +1 more)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 255715	NM_000275.3(OCA2):c.1047C>T (p.Ile349=)	OCA2	Single nucleotide variant (synonymous variant +1 more)	OCA2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 193572	NM_000275.3(OCA2):c.1045-9T>G	OCA2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2430232	NM_000275.3(OCA2):c.1045-10T>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 2430234	NM_000275.3(OCA2):c.516-3C>A	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance

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Items: 22