"OCA2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032087	NM_000275.3(OCA2):c.2433-5T>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder	GLikely benign
Select item 195725	NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	OCA2 (F809I +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +3 more	GConflicting classifications of pathogenicity
Select item 195645	NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr)	OCA2 (A765T +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 1672802	NM_000275.3(OCA2):c.2245-8C>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder +1 more	GLikely benign
Select item 2630564	NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)	OCA2 (I718fs +1 more)	Deletion (frameshift variant)	OCA2-related disorder +1 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)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +4 more	GConflicting classifications of pathogenicity
Select item 498226	NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)	OCA2 (V702fs +1 more)	Deletion (frameshift variant)	OCA2-related disorder +2 more	GPathogenic
Select item 623862	NM_000275.3(OCA2):c.2079G>A (p.Glu693=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 430966	NM_000275.3(OCA2):c.2055del (p.Phe685fs)	OCA2 (F661fs +1 more)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic
Select item 817597	NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)	OCA2 (F660fs +1 more)	Indel (frameshift variant)	not provided +3 more	GPathogenic
Select item 2137630	NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)	OCA2 (F660C +1 more)	Single nucleotide variant (missense variant)	OCA2-related disorder +2 more	GUncertain significance
Select item 2633862	NM_000275.3(OCA2):c.2032_2039delinsTAG (p.Glu678_Ala680delinsTer)	OCA2	Indel (nonsense)	OCA2-related disorder	GLikely pathogenic
Select item 2632291	NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs)	OCA2 (I648fs +1 more)	Indel (frameshift variant)	OCA2-related disorder	GPathogenic
Select item 2636417	NM_000275.3(OCA2):c.1923del (p.Phe642fs)	OCA2 (F618fs +1 more)	Deletion (frameshift variant)	OCA2-related disorder	GLikely pathogenic
Select item 1949518	NM_000275.3(OCA2):c.1923G>A (p.Ser641=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 315463	NM_000275.3(OCA2):c.1785-7C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 1458413	NM_000275.3(OCA2):c.1555del (p.Val519fs)	OCA2 (V495fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 1619951	NM_000275.3(OCA2):c.1452C>T (p.Ile484=)	OCA2	Single nucleotide variant (synonymous variant)	OCA2-related disorder +1 more	GLikely benign
Select item 954	NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	OCA2 (A481T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 710825	NM_000275.3(OCA2):c.1364G>A (p.Arg455Lys)	OCA2 (R455K +1 more)	Single nucleotide variant (missense variant)	OCA2-related disorder +1 more	GLikely benign
Select item 1211398	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	OCA2 (T426M +1 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 255719	NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	OCA2 (L440F +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2628638	NM_000275.3(OCA2):c.1313C>A (p.Ala438Asp)	OCA2 (A414D +1 more)	Single nucleotide variant (missense variant)	OCA2-related disorder	GUncertain significance
Select item 1446895	NM_000275.3(OCA2):c.1275_1277del (p.Met425del)	OCA2 (M425del +1 more)	Deletion (inframe_deletion)	not provided +1 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)	not provided +3 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 +3 more	GPathogenic
Select item 211765	NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)	OCA2 (F385I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 728206	NM_000275.3(OCA2):c.1134T>C (p.His378=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 255715	NM_000275.3(OCA2):c.1047C>T (p.Ile349=)	OCA2	Single nucleotide variant (synonymous variant +1 more)	OCA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3029267	NM_000275.3(OCA2):c.1045-15T>C	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder	GLikely benign
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GConflicting classifications of pathogenicity
Select item 1305134	NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)	OCA2 (F292L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198707	NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	OCA2	Indel (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1705700	NM_000275.3(OCA2):c.808-3C>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1968462	NM_000275.3(OCA2):c.761T>G (p.Leu254Arg)	OCA2 (L254R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886198	NM_000275.3(OCA2):c.751G>A (p.Val251Met)	OCA2 (V251M)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
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 284034	NM_000275.3(OCA2):c.722C>G (p.Pro241Arg)	OCA2 (P241R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1422832	NM_000275.3(OCA2):c.647-3G>A	OCA2	Single nucleotide variant (intron variant)	not provided +1 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 1165379	NM_000275.3(OCA2):c.574-18C>T	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder +1 more	GBenign/Likely benign
Select item 504924	NM_000275.3(OCA2):c.574-19A>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 872636	NM_000275.3(OCA2):c.573+6T>C	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder +1 more	GUncertain significance
Select item 1975498	NM_000275.3(OCA2):c.537A>G (p.Lys179=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2137638	NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)	OCA2 (E96A)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +3 more	GPathogenic/Likely pathogenic
Select item 726847	NM_000275.3(OCA2):c.232C>T (p.His78Tyr)	OCA2 (H78Y)	Single nucleotide variant (missense variant)	OCA2-related disorder +1 more	GLikely benign
Select item 2137639	NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)	OCA2 (Q58*)	Single nucleotide variant (nonsense)	OCA2-related disorder +1 more	GPathogenic
Select item 887202	NM_000275.3(OCA2):c.126C>T (p.Ala42=)	OCA2	Single nucleotide variant (synonymous variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 1671745	NM_000275.3(OCA2):c.84C>T (p.Leu28=)	OCA2	Single nucleotide variant (synonymous variant)	OCA2-related disorder +1 more	GLikely benign
Select item 431946	NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)	OCA2 (G27R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 1619388	NM_000275.3(OCA2):c.21C>T (p.Asp7=)	OCA2	Single nucleotide variant (synonymous variant)	OCA2-related disorder +1 more	GLikely benign

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: 53