9865[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 136

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 155496	GRCh38/hg38 3p24.2(chr3:24888104-25439685)x1	LOC121725136, LOC122889054 +4 more	Copy number loss	See cases	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 2629886	NM_001290216.3(RARB):c.130del (p.Leu44fs)	RARB (L44fs)	Deletion (frameshift variant)	RARB-related disorder	GUncertain significance
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 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 391731	NM_000965.5(RARB):c.148A>G (p.Thr50Ala)	RARB (T50A)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1280900	NM_000965.5(RARB):c.157+207C>T	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2687511	NM_000965.5(RARB):c.157+1895G>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1294921	NM_000965.5(RARB):c.158-188C>T	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1430485	NM_000965.5(RARB):c.158-15C>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 707589	NM_000965.5(RARB):c.158-9C>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GBenign
Select item 2728037	NM_000965.5(RARB):c.158-7A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
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 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 738188	NM_000965.5(RARB):c.231G>C (p.Val77=)	RARB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 738015	NM_000965.5(RARB):c.288C>T (p.Ser96=)	RARB	Single nucleotide variant (synonymous variant +2 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 2864142	NM_000965.5(RARB):c.306+7A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
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 1277051	NM_000965.5(RARB):c.306+37T>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 1265767	NM_000965.5(RARB):c.307-85A>G	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
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 3252443	NM_000965.5(RARB):c.314del (p.Phe105fs)	RARB (F105fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 88760	NM_000965.5(RARB):c.355C>T (p.Arg119Ter)	RARB (R119* +4 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12	GPathogenic
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 488977	NM_000965.5(RARB):c.409C>T (p.Arg137Ter)	RARB (R137* +4 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12 +1 more	GUncertain significance
Select item 541542	NM_000965.5(RARB):c.410G>A (p.Arg137Gln)	RARB (R137Q +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
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 1294918	NM_000965.5(RARB):c.449-97A>G	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1294979	NM_000965.5(RARB):c.609+64AC[19]	RARB	Microsatellite (intron variant)	not provided	GBenign
Select item 1269685	NM_000965.5(RARB):c.609+64AC[16]	RARB	Microsatellite (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 1178914	NM_000965.5(RARB):c.609+64AC[18]	RARB	Microsatellite (intron variant)	not provided	GBenign
Select item 1710326	NM_000965.5(RARB):c.624_635del (p.Asp208_Arg212delinsGlu)	RARB	Deletion (inframe_indel +1 more)	Microphthalmia	GLikely pathogenic
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 218339	NM_000965.5(RARB):c.638T>C (p.Leu213Pro)	RARB (L213P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 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 524000	NM_000965.5(RARB):c.655del (p.Asp219fs)	RARB (D107fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 713568	NM_000965.5(RARB):c.696C>T (p.Ile232=)	RARB	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 746660	NM_000965.5(RARB):c.741C>T (p.Ile247=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 432822	NM_000965.5(RARB):c.742G>T (p.Ala248Ser)	RARB (A248S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1637726	NM_000965.5(RARB):c.787-18A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 756040	NM_000965.5(RARB):c.787-8C>T	RARB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 546932	NM_000965.5(RARB):c.844G>A (p.Gly282Ser)	RARB (G282S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
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 624213	NM_000965.5(RARB):c.847C>G (p.Leu283Val)	RARB (L283V +4 more)	Single nucleotide variant (missense variant +2 more)	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 664808	NM_000965.5(RARB):c.851C>T (p.Thr284Ile)	RARB (T235I +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12 +1 more	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 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 559901	NM_000965.5(RARB):c.872A>T (p.His291Leu)	RARB (H291L +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
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 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 218338	NM_000965.5(RARB):c.887G>C (p.Gly296Ala)	RARB (G296A +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
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 755841	NM_000965.5(RARB):c.960C>A (p.Gly320=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GBenign
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 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 783192	NM_000965.5(RARB):c.991+10A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 2879458	NM_000965.5(RARB):c.991+11T>C	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GBenign
Select item 1227211	NM_000965.5(RARB):c.992-98A>C	RARB	Single nucleotide variant (intron variant)	not provided	GBenign
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 764228	NM_000965.5(RARB):c.1042T>C (p.Leu348=)	RARB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 796242	NM_000965.5(RARB):c.1134T>C (p.Arg378=)	RARB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1290351	NM_000965.5(RARB):c.1150+175A>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 1710328	NM_000965.5(RARB):c.1151-1G>C	RARB	Single nucleotide variant (splice acceptor variant)	Congenital ocular coloboma	GPathogenic
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 474675	NM_000965.5(RARB):c.1155A>G (p.Ala385=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12 +1 more	GBenign
Select item 88763	NM_000965.5(RARB):c.1159C>A (p.Arg387Ser)	RARB (R387S +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GPathogenic
Select item 88762	NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	RARB (R387C +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 48 +3 more	GPathogenic/Likely pathogenic
Select item 430023	NM_000965.5(RARB):c.1160G>T (p.Arg387Leu)	RARB (R387L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

<< First< Prev

Page of 2