RORB[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 423

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153582	GRCh38/hg38 9q21.13(chr9:74282586-75968293)x3	C9orf40, CARNMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2770599	NM_006914.4(RORB):c.2T>G (p.Met1Arg)	RORB, RORB-AS1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306466	NM_006914.4(RORB):c.2T>C (p.Met1Thr)	RORB, RORB-AS1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825215	NM_006914.4(RORB):c.3G>C (p.Met1Ile)	RORB, RORB-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483936	NM_006914.4(RORB):c.5G>C (p.Arg2Pro)	RORB, RORB-AS1 (R2P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695250	NM_006914.4(RORB):c.7+6C>T	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2831046	NM_006914.4(RORB):c.7+15G>C	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610805	NM_006914.4(RORB):c.7+20C>T	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1528222	NM_006914.4(RORB):c.7+20C>A	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041940	NM_006914.4(RORB):c.8-14688G>A	RORB	Single nucleotide variant (5 prime UTR variant +1 more)	RORB-related disorder	GLikely benign
Select item 2127492	NM_006914.4(RORB):c.8-7C>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 690378	NM_006914.4(RORB):c.8-1G>A	RORB	Single nucleotide variant (splice acceptor variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GLikely pathogenic
Select item 2874375	NM_006914.4(RORB):c.16G>C (p.Glu6Gln)	RORB (E17Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008088	NM_006914.4(RORB):c.20T>G (p.Val7Gly)	RORB (V18G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878889	NM_006914.4(RORB):c.26C>T (p.Pro9Leu)	RORB (P20L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544307	NM_006914.4(RORB):c.27A>C (p.Pro9=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134793	NM_006914.4(RORB):c.41dup (p.Asp15fs)	RORB (D15fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1947724	NM_006914.4(RORB):c.42C>T (p.Gly14=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722048	NM_006914.4(RORB):c.43G>A (p.Asp15Asn)	RORB (D15N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519722	NM_006914.4(RORB):c.55G>A (p.Gly19Arg)	RORB (G30R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010063	NM_006914.4(RORB):c.56G>T (p.Gly19Val)	RORB (G30V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678868	NM_006914.4(RORB):c.61del (p.His21fs)	RORB (H21fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1546650	NM_006914.4(RORB):c.66C>T (p.Tyr22=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410644	NM_006914.4(RORB):c.67G>A (p.Gly23Arg)	RORB (G34R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007340	NM_006914.4(RORB):c.69A>C (p.Gly23=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782753	NM_006914.4(RORB):c.75C>T (p.Ile25=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1404805	NM_006914.4(RORB):c.78_79del (p.Thr26_Cys27insTer)	RORB	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2094337	NM_006914.4(RORB):c.81T>G (p.Cys27Trp)	RORB (C38W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620529	NM_006914.4(RORB):c.81T>C (p.Cys27=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193303	NM_006914.4(RORB):c.93+3A>T	RORB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1558019	NM_006914.4(RORB):c.93+10T>G	RORB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659031	NM_006914.4(RORB):c.93+14A>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643688	NM_006914.4(RORB):c.93+17C>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111527	NM_006914.4(RORB):c.93+18A>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1696675	NM_006914.4(RORB):c.94-1144G>T	RORB	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 1567611	NM_006914.4(RORB):c.94-16C>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955131	NM_006914.4(RORB):c.94-12T>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591821	NM_006914.4(RORB):c.94-10T>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860659	NM_006914.4(RORB):c.94-9T>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683646	NM_006914.4(RORB):c.94-1G>A	RORB	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2582459	NM_006914.4(RORB):c.99C>A (p.Phe33Leu)	RORB (F33L +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 2710627	NM_006914.4(RORB):c.107G>T (p.Arg36Met)	RORB (R47M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708358	NM_006914.4(RORB):c.107G>A (p.Arg36Lys)	RORB (R36K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418713	NM_006914.4(RORB):c.108G>C (p.Arg36Ser)	RORB (R47S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855206	NM_006914.4(RORB):c.113A>G (p.Gln38Arg)	RORB (Q38R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487667	NM_006914.4(RORB):c.122A>G (p.Asn41Ser)	RORB (N41S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781582	NM_006914.4(RORB):c.123T>C (p.Asn41=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898304	NM_006914.4(RORB):c.126T>C (p.Ala42=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608972	NM_006914.4(RORB):c.132T>C (p.Tyr44=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353211	NM_006914.4(RORB):c.137G>T (p.Cys46Phe)	RORB (C46F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2707850	NM_006914.4(RORB):c.144G>T (p.Arg48Ser)	RORB (R48S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971750	NM_006914.4(RORB):c.145C>A (p.Gln49Lys)	RORB (Q60K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492148	NM_006914.4(RORB):c.161T>C (p.Ile54Thr)	RORB (I65T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3369142	NM_006914.4(RORB):c.167G>A (p.Arg56Lys)	RORB (R56K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497873	NM_006914.4(RORB):c.170C>T (p.Thr57Met)	RORB (T57M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2698226	NM_006914.4(RORB):c.174C>G (p.Asn58Lys)	RORB (N58K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437180	NM_006914.4(RORB):c.176G>A (p.Arg59Lys)	RORB (R59K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366206	NM_006914.4(RORB):c.187C>G (p.Gln63Glu)	RORB (Q63E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709380	NM_006914.4(RORB):c.193T>A (p.Cys65Ser)	RORB (C65S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GLikely pathogenic
Select item 3365496	NM_006914.4(RORB):c.195C>G (p.Cys65Trp)	RORB (C65W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700961	NM_006914.4(RORB):c.195C>A (p.Cys65Ter)	RORB (C65* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 620651	NM_006914.4(RORB):c.196C>T (p.Arg66Ter)	RORB (R66* +1 more)	Single nucleotide variant (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 15	Grisk factor
Select item 2854266	NM_006914.4(RORB):c.197G>C (p.Arg66Pro)	RORB (R77P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370911	NM_006914.4(RORB):c.197G>A (p.Arg66Gln)	RORB (R77Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1338791	NM_006914.4(RORB):c.197G>T (p.Arg66Leu)	RORB (R66L +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 15	GUncertain significance
Select item 1535693	NM_006914.4(RORB):c.201G>A (p.Leu67=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327473	NM_006914.4(RORB):c.202C>T (p.Gln68Ter)	RORB (Q68* +1 more)	Single nucleotide variant (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 15	GPathogenic
Select item 3368602	NM_006914.4(RORB):c.207G>T (p.Lys69Asn)	RORB (K69N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225115	NM_006914.4(RORB):c.218T>C (p.Leu73Pro)	RORB (L73P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1599344	NM_006914.4(RORB):c.219A>G (p.Leu73=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1721685	NM_006914.4(RORB):c.232G>A (p.Asp78Asn)	RORB (D78N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697132	NM_006914.4(RORB):c.235+5G>C	RORB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1636773	NM_006914.4(RORB):c.236-13C>G	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012008	NM_006914.4(RORB):c.236-11C>T	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491293	NM_006914.4(RORB):c.236-6A>G	RORB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1575992	NM_006914.4(RORB):c.236-5C>A	RORB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015212	NM_006914.4(RORB):c.243G>T (p.Lys81Asn)	RORB (K81N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405943	NM_006914.4(RORB):c.247G>A (p.Gly83Arg)	RORB (G83R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369682	NM_006914.4(RORB):c.248G>A (p.Gly83Glu)	RORB (G83E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639772	NM_006914.4(RORB):c.249G>A (p.Gly83=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1361543	NM_006914.4(RORB):c.252_253delinsAC (p.Met85Leu)	RORB (M85L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1300561	NM_006914.4(RORB):c.252G>A (p.Arg84=)	RORB	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 5