ClinVar for Gene (Select 4948) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368049	NM_000275.3(OCA2):c.707T>C (p.Leu236Pro)	OCA2 (L236P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368048	NM_000275.3(OCA2):c.2258T>A (p.Leu753Gln)	OCA2 (L729Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366753	NM_000275.3(OCA2):c.2222A>G (p.Asn741Ser)	OCA2 (N717S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3361809	NM_000275.3(OCA2):c.1306C>T (p.Leu436Phe)	OCA2 (L412F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361315	NM_000275.3(OCA2):c.573+3G>C	OCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3349045	NM_000275.3(OCA2):c.2080-1G>T	OCA2	Single nucleotide variant (splice acceptor variant)	OCA2-related disorder	GLikely pathogenic
Select item 3340499	NM_000275.3(OCA2):c.2244+1G>C	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 3339670	NM_000275.3(OCA2):c.631C>T (p.Pro211Ser)	OCA2 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339502	NM_000275.3(OCA2):c.2221A>T (p.Asn741Tyr)	OCA2 (N717Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339317	NM_000275.3(OCA2):c.2139+6A>G	OCA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339148	NM_000275.3(OCA2):c.1475T>C (p.Ile492Thr)	OCA2 (I468T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338138	NM_000275.3(OCA2):c.2338+1453C>T	OCA2	Single nucleotide variant (intron variant)	Visual impairment	GUncertain significance
Select item 3302124	NM_000275.3(OCA2):c.368C>A (p.Ala123Asp)	OCA2 (A123D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302123	NM_000275.3(OCA2):c.1564G>T (p.Val522Phe)	OCA2 (V498F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256646	NM_000275.3(OCA2):c.574-53C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 3251960	NM_000275.3(OCA2):c.1066G>C (p.Ala356Pro)	OCA2 (A356P)	Single nucleotide variant (missense variant +1 more)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 3251708	NM_000275.3(OCA2):c.2012A>G (p.Glu671Gly)	OCA2 (E647G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251585	NM_000275.3(OCA2):c.1275G>A (p.Met425Ile)	OCA2 (M401I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251311	NM_000275.3(OCA2):c.2020C>A (p.Leu674Ile)	OCA2 (L650I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250718	NM_000275.3(OCA2):c.878A>G (p.Glu293Gly)	OCA2 (E293G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 3243855	NC_000015.9:g.(?_28116280)_(28171420_?)dup	OCA2	Duplication	not provided	GLikely pathogenic
Select item 3243854	NC_000015.9:g.(?_28211816)_(28235813_?)dup	OCA2	Duplication	not provided	GLikely pathogenic
Select item 3243853	NC_000015.9:g.(?_28090085)_(28263743_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243852	NC_000015.9:g.(?_28228471)_(28263743_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243851	NC_000015.9:g.(?_28259902)_(28277329_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243850	NC_000015.9:g.(?_28272997)_(28277329_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243849	NC_000015.9:g.(?_28234727)_(28277329_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243848	NC_000015.9:g.(?_28090085)_(28117088_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243847	NC_000015.9:g.(?_28116280)_(28117088_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243845	NC_000015.9:g.(?_28090085)_(28327020_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243844	NC_000015.9:g.(?_28171253)_(28327020_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243843	NC_000015.9:g.(?_28000534)_(28171420_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243842	NC_000015.9:g.(?_28090085)_(28200381_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243841	NC_000015.9:g.(?_28171253)_(28200381_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243840	NC_000015.9:g.(?_28116280)_(28202901_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243839	NC_000015.9:g.(?_28196910)_(28211988_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243838	NC_000015.9:g.(?_28090085)_(28231809_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243837	NC_000015.9:g.(?_28090085)_(28090218_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3239997	NM_000275.3(OCA2):c.316C>T (p.Gln106Ter)	OCA2 (Q106*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3239996	NM_000275.3(OCA2):c.2247dup (p.Pro750fs)	OCA2 (P726fs +1 more)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3239995	NM_000275.3(OCA2):c.2244+2T>C	OCA2	Single nucleotide variant (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3239994	NM_000275.3(OCA2):c.499dup (p.Arg167fs)	OCA2 (R167fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3239993	NM_000275.3(OCA2):c.409_415del (p.Arg137fs)	OCA2 (R137fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3239992	NM_000275.3(OCA2):c.1456del (p.Asp486fs)	OCA2 (D462fs +1 more)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 3239364	NM_000275.3(OCA2):c.2139G>A (p.Lys713=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 3233735	NM_000275.3(OCA2):c.2079+4A>T	OCA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3203920	NM_000275.3(OCA2):c.980T>C (p.Val327Ala)	OCA2 (V327A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203919	NM_000275.3(OCA2):c.481A>G (p.Ser161Gly)	OCA2 (S161G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203918	NM_000275.3(OCA2):c.2107T>C (p.Tyr703His)	OCA2 (Y679H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148917	GRCh37/hg19 15q12-13.1(chr15:27065946-28659911)x1	GABRA5, GABRG3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3148890	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28962791)x1	ATP10A, CYFIP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062174	NM_000275.3(OCA2):c.890+5G>A	OCA2	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	GABRA5, GOLGA6L26 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3032087	NM_000275.3(OCA2):c.2433-5T>G	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder	GLikely benign
Select item 3029267	NM_000275.3(OCA2):c.1045-15T>C	OCA2	Single nucleotide variant (intron variant)	OCA2-related disorder	GLikely benign
Select item 3027396	GRCh37/hg19 15q13.1(chr15:28171273-28171400)x1	OCA2	Copy number loss	not provided	GPathogenic
Select item 3014528	NM_000275.3(OCA2):c.2022A>G (p.Leu674=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013865	NM_000275.3(OCA2):c.1091del (p.Leu364fs)	OCA2 (L364fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3012964	NM_000275.3(OCA2):c.66G>A (p.Thr22=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012268	NM_000275.3(OCA2):c.2079+11A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012076	NM_000275.3(OCA2):c.515+7G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012035	NM_000275.3(OCA2):c.2301G>A (p.Pro767=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011181	NM_000275.3(OCA2):c.1206A>C (p.Ser402=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011007	NM_000275.3(OCA2):c.2339-3del	OCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 3010305	NM_000275.3(OCA2):c.1917C>G (p.Leu639=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009603	NM_000275.3(OCA2):c.1240-16G>C	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009053	NM_000275.3(OCA2):c.1784+10G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007812	NM_000275.3(OCA2):c.2181G>A (p.Leu727=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007748	NM_000275.3(OCA2):c.1935C>T (p.Gly645=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007054	NM_000275.3(OCA2):c.2140-16A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006897	NM_000275.3(OCA2):c.1503+1G>A	OCA2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3006418	NM_000275.3(OCA2):c.795G>A (p.Arg265=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006312	NM_000275.3(OCA2):c.1952-14T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006241	NM_000275.3(OCA2):c.1803C>T (p.Asp601=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006018	NM_000275.3(OCA2):c.1636+2T>G	OCA2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3005427	NM_000275.3(OCA2):c.669_675dup (p.Thr226fs)	OCA2 (T226fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3004802	NM_000275.3(OCA2):c.2080-11C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003910	NM_000275.3(OCA2):c.2432+8T>G	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003560	NM_000275.3(OCA2):c.326+18T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002022	NM_000275.3(OCA2):c.1045-19T>A	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001167	NM_000275.3(OCA2):c.1183-6C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000999	NM_000275.3(OCA2):c.867C>T (p.Ser289=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999299	NM_000275.3(OCA2):c.515+20C>A	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998677	NM_000275.3(OCA2):c.2244+5G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997760	NM_000275.3(OCA2):c.2376G>A (p.Val792=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997319	NM_000275.3(OCA2):c.1879C>T (p.Leu627=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996717	NM_000275.3(OCA2):c.1637-13C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995426	NM_000275.3(OCA2):c.534G>A (p.Leu178=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995425	NM_000275.3(OCA2):c.2049_2050insC (p.Phe684fs)	OCA2 (F660fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2995058	NM_000275.3(OCA2):c.1045-18T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991738	NM_000275.3(OCA2):c.301C>T (p.Leu101=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991551	NM_000275.3(OCA2):c.1683C>T (p.Ile561=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991446	NM_000275.3(OCA2):c.486G>A (p.Pro162=)	OCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 10