"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OCA2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888268	NM_000275.3(OCA2):c.*54A>G	OCA2	Single nucleotide variant (3 prime UTR variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GUncertain significance
Select item 617810	NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	OCA2 (A787V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 803060	NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	OCA2 (A763T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +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)	Tyrosinase-positive 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 195643	NM_000275.3(OCA2):c.2328T>C (p.Ala776=)	OCA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 956	NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	OCA2 (P743L +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 1407900	NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys)	OCA2 (R531C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 211768	NM_000275.3(OCA2):c.1503+5G>A	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 961	NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	OCA2 (N489D +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +4 more	GPathogenic/Likely pathogenic
Select item 631723	NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)	OCA2 (R455G +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)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +5 more	GPathogenic/Likely pathogenic
Select item 887143	NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)	OCA2 (R397W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193985	NM_000275.3(OCA2):c.1239+5G>C	OCA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1483719	NM_000275.3(OCA2):c.943C>T (p.Pro315Ser)	OCA2 (P315S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 962	NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)	OCA2 (R305W)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GBenign
Select item 1216648	NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	OCA2 (R290G)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 1006003	NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)	OCA2 (S283R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GUncertain significance
Select item 436095	NM_000275.3(OCA2):c.807+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 255731	NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)	OCA2 (R266W)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 198411	NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	OCA2 (R243C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +4 more	GConflicting classifications of pathogenicity
Select item 372713	NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	OCA2	Deletion (inframe_deletion)	OCA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1404212	NM_000275.3(OCA2):c.224G>A (p.Gly75Glu)	OCA2 (G75E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1070405	NM_000275.3(OCA2):c.157del (p.Arg53fs)	OCA2 (R53fs)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 1386147	NM_000275.3(OCA2):c.41C>T (p.Ala14Val)	OCA2 (A14V)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25