C0268495[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195725	NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	OCA2 (F809I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 627604	NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	OCA2 (S788L +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 617810	NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	OCA2 (A787V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +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 +2 more	GPathogenic/Likely pathogenic
Select item 211770	NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)	OCA2 (G782R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 436090	NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	OCA2 (G780D +1 more)	Single nucleotide variant (missense variant)	not provided +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 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 195557	NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	OCA2 (S736L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498226	NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)	OCA2 (V702fs +1 more)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 2677411	NM_000275.3(OCA2):c.2055dup (p.Ala686fs)	OCA2 (A662fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 960	NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	OCA2 (W679C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2137631	NM_000275.3(OCA2):c.1951+1G>A	OCA2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 953	NM_000275.3(OCA2):c.1842+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 1057881	NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)	OCA2 (L503R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 211768	NM_000275.3(OCA2):c.1503+5G>A	OCA2	Single nucleotide variant (intron variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +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)	not provided +3 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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1211398	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	OCA2 (T426M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 502704	NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	OCA2 (D441G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255719	NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	OCA2 (L440F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 194160	NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	OCA2 (R419W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1805918	NM_000275.3(OCA2):c.1248dup (p.Leu417fs)	OCA2 (L393fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
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 211766	NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	OCA2 (T404M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 436099	NM_000275.3(OCA2):c.1182+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic
Select item 193574	NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)	OCA2 (A368V)	Single nucleotide variant (missense variant +1 more)	Tyrosinase-positive oculocutaneous albinism +4 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 193572	NM_000275.3(OCA2):c.1045-9T>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 958	NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)	OCA2 (A334V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1216648	NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)	OCA2 (R290G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198707	NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	OCA2	Indel (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 1705700	NM_000275.3(OCA2):c.808-3C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GPathogenic
Select item 436095	NM_000275.3(OCA2):c.807+1G>T	OCA2	Single nucleotide variant (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 198411	NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)	OCA2 (R243C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 372713	NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	OCA2	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198064	NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)	OCA2 (P211L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198063	NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	OCA2 (P198L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 627599	NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)	OCA2 (S195G)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GPathogenic
Select item 1030712	NM_000275.3(OCA2):c.515G>A (p.Arg172Lys)	OCA2 (R172K)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 2677407	NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)	OCA2 (S59fs)	Microsatellite (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 1705444	NM_000275.3(OCA2):c.163dup (p.Ala55fs)	OCA2 (A55fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 1070405	NM_000275.3(OCA2):c.157del (p.Arg53fs)	OCA2 (R53fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 521067	NM_000275.3(OCA2):c.131del (p.Gly44fs)	OCA2 (G44fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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: 47