ClinVar for Gene (Select 5915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377400	NM_000965.5(RARB):c.1199C>T (p.Pro400Leu)	RARB (P288L +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 3376953	NM_000965.5(RARB):c.640G>T (p.Asp214Tyr)	RARB (D165Y +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 3370843	NM_000965.5(RARB):c.422G>T (p.Cys141Phe)	RARB (C141F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369609	NM_000965.5(RARB):c.1173G>C (p.Leu391Phe)	RARB (L279F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360252	NM_000965.5(RARB):c.1121T>C (p.Ile374Thr)	RARB (I262T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360039	NM_000965.5(RARB):c.1086C>A (p.Ser362Arg)	RARB (S250R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357109	NM_001290216.3(RARB):c.20C>T (p.Ala7Val)	RARB (A7V)	Single nucleotide variant (missense variant)	RARB-related disorder	GUncertain significance
Select item 3350009	NM_001290216.3(RARB):c.35C>T (p.Ala12Val)	RARB (A12V)	Single nucleotide variant (missense variant)	RARB-related disorder	GUncertain significance
Select item 3342605	NM_000965.5(RARB):c.553C>T (p.Arg185Ter)	RARB (R136* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3312816	NM_000965.5(RARB):c.40C>G (p.Gln14Glu)	RARB (Q14E)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3252443	NM_000965.5(RARB):c.314del (p.Phe105fs)	RARB (F105fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3051901	NM_000965.5(RARB):c.*4A>G	RARB	Single nucleotide variant (3 prime UTR variant +1 more)	RARB-related disorder	GLikely benign
Select item 3037092	NM_000965.5(RARB):c.702G>C (p.Glu234Asp)	RARB (E122D +4 more)	Single nucleotide variant (missense variant +1 more)	RARB-related disorder	GUncertain significance
Select item 3025563	NM_000965.5(RARB):c.674C>T (p.Ala225Val)	RARB (A113V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879458	NM_000965.5(RARB):c.991+11T>C	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GBenign
Select item 2864142	NM_000965.5(RARB):c.306+7A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 2841110	NM_000965.5(RARB):c.683G>T (p.Cys228Phe)	RARB (C116F +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2807006	NM_000965.5(RARB):c.545A>G (p.Glu182Gly)	RARB (E133G +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2801261	NM_000965.5(RARB):c.646G>A (p.Gly216Ser)	RARB (G104S +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2770133	NM_000965.5(RARB):c.158-1G>A	RARB	Single nucleotide variant (splice acceptor variant)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2728037	NM_000965.5(RARB):c.158-7A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 2721928	NM_000965.5(RARB):c.1250C>G (p.Thr417Ser)	RARB (T368S +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12 +1 more	GConflicting classifications of pathogenicity
Select item 2687744	NM_000965.5(RARB):c.749A>G (p.Gln250Arg)	RARB (Q138R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2687511	NM_000965.5(RARB):c.157+1895G>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685074	GRCh37/hg19 3p24.2(chr3:25453857-26021261)x1	NGLY1, OXSM +2 more	Copy number loss	not provided	GUncertain significance
Select item 2653629	NM_000965.5(RARB):c.1059A>G (p.Lys353=)	RARB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2632393	NM_001290216.3(RARB):c.130C>G (p.Leu44Val)	RARB (L44V)	Single nucleotide variant (missense variant)	RARB-related disorder	GUncertain significance
Select item 2629886	NM_001290216.3(RARB):c.130del (p.Leu44fs)	RARB (L44fs)	Deletion (frameshift variant)	RARB-related disorder	GUncertain significance
Select item 2628351	NM_000965.5(RARB):c.986G>A (p.Cys329Tyr)	RARB (C217Y +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 2620610	NM_000965.5(RARB):c.737C>G (p.Thr246Ser)	RARB (T203S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579398	NM_000965.5(RARB):c.1220T>C (p.Leu407Pro)	RARB (L295P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2576909	NM_000965.5(RARB):c.269G>A (p.Gly90Glu)	RARB (G41E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2549958	NM_000965.5(RARB):c.356G>A (p.Arg119Gln)	RARB (R7Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491764	NM_000965.5(RARB):c.961C>A (p.Leu321Ile)	RARB (L275I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446554	NC_000003.12:g.25598346A>T	RARB, TOP2B (D1609E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430936	NM_000965.5(RARB):c.848T>C (p.Leu283Pro)	RARB (L171P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2423594	NC_000003.11:g.(?_25611229)_(25662327_?)dup	RARB, TOP2B	Duplication	not provided	GUncertain significance
Select item 2423443	NC_000003.11:g.(?_25470223)_(25824881_?)del	NGLY1, RARB +1 more	Deletion	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2236430	NM_000965.5(RARB):c.1097T>C (p.Met366Thr)	RARB (M317T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229046	NM_000965.5(RARB):c.845G>T (p.Gly282Val)	RARB (G233V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1969155	NM_000965.5(RARB):c.634C>T (p.Arg212Ter)	RARB (R169* +4 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1712724	NC_000003.12:g.25598393G>A	RARB, TOP2B (R1594* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1710862	NM_000965.5(RARB):c.880G>A (p.Gly294Arg)	RARB (G182R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1710329	NM_000965.5(RARB):c.1205T>C (p.Leu402Pro)	RARB (L290P +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia	GLikely pathogenic
Select item 1710328	NM_000965.5(RARB):c.1151-1G>C	RARB	Single nucleotide variant (splice acceptor variant)	Congenital ocular coloboma	GPathogenic
Select item 1710327	NM_000965.5(RARB):c.654G>C (p.Trp218Cys)	RARB (W106C +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia	GPathogenic
Select item 1710326	NM_000965.5(RARB):c.624_635del (p.Asp208_Arg212delinsGlu)	RARB	Deletion (inframe_indel +1 more)	Microphthalmia	GLikely pathogenic
Select item 1710325	NM_000965.5(RARB):c.307G>T (p.Gly103Cys)	RARB (G103C +3 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia	GLikely pathogenic
Select item 1706544	NM_000965.5(RARB):c.602A>G (p.Tyr201Cys)	RARB (Y152C +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1695550	NM_000965.5(RARB):c.644T>C (p.Leu215Pro)	RARB (L103P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1637726	NM_000965.5(RARB):c.787-18A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 1600081	NM_000965.5(RARB):c.920A>C (p.Asn307Thr)	RARB (N195T +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GBenign
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1430485	NM_000965.5(RARB):c.158-15C>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 1338852	NM_000965.5(RARB):c.881G>T (p.Gly294Val)	RARB (G182V +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 1328391	NM_000965.5(RARB):c.1181A>G (p.Glu394Gly)	RARB (E282G +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1312913	NM_000965.5(RARB):c.1229C>A (p.Ser410Tyr)	RARB (S298Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309156	NM_000965.5(RARB):c.872_873delinsCA (p.His291Pro)	RARB (H179P +4 more)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 1303220	NM_000965.5(RARB):c.854T>C (p.Leu285Pro)	RARB (L173P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1294979	NM_000965.5(RARB):c.609+64AC[19]	RARB	Microsatellite (intron variant)	not provided	GBenign
Select item 1294921	NM_000965.5(RARB):c.158-188C>T	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294918	NM_000965.5(RARB):c.449-97A>G	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290351	NM_000965.5(RARB):c.1150+175A>C	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280900	NM_000965.5(RARB):c.157+207C>T	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277051	NM_000965.5(RARB):c.306+37T>G	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274651	NM_000965.5(RARB):c.306+19G>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12 +1 more	GBenign
Select item 1269685	NM_000965.5(RARB):c.609+64AC[16]	RARB	Microsatellite (intron variant)	not provided	GBenign
Select item 1265767	NM_000965.5(RARB):c.307-85A>G	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258344	NM_000965.5(RARB):c.307-102G>A	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246441	NM_000965.5(RARB):c.609+64AC[15]	RARB	Microsatellite (intron variant)	not provided	GBenign
Select item 1227211	NM_000965.5(RARB):c.992-98A>C	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222076	NM_000965.5(RARB):c.1151-159T>C	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183657	NM_000965.5(RARB):c.1150+176dup	RARB	Duplication (intron variant)	not provided	GBenign
Select item 1182571	NM_000965.5(RARB):c.1150+176del	RARB	Deletion (intron variant)	not provided	GBenign
Select item 1178914	NM_000965.5(RARB):c.609+64AC[18]	RARB	Microsatellite (intron variant)	not provided	GBenign
Select item 1102389	NM_000965.5(RARB):c.264A>T (p.Ser88=)	RARB	Single nucleotide variant (synonymous variant +2 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 1035194	NM_000965.5(RARB):c.224dup (p.Arg76fs)	RARB (R33fs +3 more)	Duplication (frameshift variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 988355	NM_000965.5(RARB):c.1193C>G (p.Ser398Ter)	RARB (S286* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988076	NM_000965.5(RARB):c.1151G>A (p.Gly384Asp)	RARB (G272D +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12 +1 more	GLikely pathogenic
Select item 936633	NM_000965.5(RARB):c.836T>C (p.Phe279Ser)	RARB (F167S +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 870386	NM_000965.5(RARB):c.835T>G (p.Phe279Val)	RARB (F230V +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 862649	NM_000965.5(RARB):c.806G>C (p.Arg269Thr)	RARB (R157T +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 842240	NM_000965.5(RARB):c.841G>T (p.Asp281Tyr)	RARB (D281Y +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 830946	NC_000003.12:g.(?_25569738)_(25596636_?)dup	RARB	Duplication	Microphthalmia, syndromic 12	GUncertain significance
Select item 814429	GRCh37/hg19 3p24.2(chr3:25329791-25554978)x3	RARB	Copy number gain	not provided	GUncertain significance
Select item 814428	GRCh37/hg19 3p24.2(chr3:25319259-25713461)x3	TOP2B, RARB	Copy number gain	not provided	GUncertain significance
Select item 809439	NM_000965.5(RARB):c.1210C>T (p.Gln404Ter)	RARB (Q404* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 800775	NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)	RARB (E282* +5 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 796242	NM_000965.5(RARB):c.1134T>C (p.Arg378=)	RARB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 783192	NM_000965.5(RARB):c.991+10A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 774994	NM_000965.5(RARB):c.1038A>G (p.Glu346=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 772966	NM_000965.5(RARB):c.270G>A (p.Gly90=)	RARB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 767504	NM_000965.5(RARB):c.768C>T (p.Ala256=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GBenign/Likely benign
Select item 764228	NM_000965.5(RARB):c.1042T>C (p.Leu348=)	RARB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756040	NM_000965.5(RARB):c.787-8C>T	RARB	Single nucleotide variant (intron variant)	not provided	GLikely benign

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