Related gene-specific medical variations for Gene (Select 6096) - ClinVar

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

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063092	GRCh37/hg19 9q21.13(chr9:77207687-77327357)x3	RORB	Copy number gain	not specified	GUncertain significance
Select item 3022571	NM_006914.4(RORB):c.1309A>G (p.Ile437Val)	LOC124310566, RORB (I448V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996363	NM_006914.4(RORB):c.1284G>A (p.Gln428=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986852	NM_006914.4(RORB):c.1333T>C (p.Leu445=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879559	NM_006914.4(RORB):c.1287A>G (p.Val429=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876810	NM_006914.4(RORB):c.1284G>C (p.Gln428His)	LOC124310566, RORB (Q439H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2787689	NM_006914.4(RORB):c.1279C>T (p.Leu427=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2705500	NM_006914.4(RORB):c.1327C>T (p.Pro443Ser)	LOC124310566, RORB (P443S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690688	NM_006914.4(RORB):c.286G>T (p.Glu96Ter)	RORB (E107* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely 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 2253608	NM_006914.4(RORB):c.1353T>A (p.Asn451Lys)	LOC124310566, RORB (N451K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2127319	NM_006914.4(RORB):c.1301A>T (p.His434Leu)	LOC124310566, RORB (H434L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102872	NM_006914.4(RORB):c.1265dup (p.Leu422fs)	LOC124310566, RORB (L422fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1995833	NM_006914.4(RORB):c.1297T>A (p.Ser433Thr)	LOC124310566, RORB (S444T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919604	NM_006914.4(RORB):c.1368C>T (p.Thr456=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700119	NM_006914.4(RORB):c.423T>G (p.Tyr141Ter)	RORB (Y141* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GPathogenic
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 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 1610805	NM_006914.4(RORB):c.7+20C>T	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1570613	NM_006914.4(RORB):c.1320A>C (p.Thr440=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1548290	NM_006914.4(RORB):c.1332G>A (p.Pro444=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528222	NM_006914.4(RORB):c.7+20C>A	RORB, RORB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1517274	NM_006914.4(RORB):c.1292del (p.Lys431fs)	LOC124310566, RORB (K431fs +1 more)	Deletion (frameshift variant)	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 1461263	NM_006914.4(RORB):c.1343A>G (p.Glu448Gly)	LOC124310566, RORB (E459G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449120	NM_006914.4(RORB):c.1316A>G (p.Asn439Ser)	LOC124310566, RORB (N439S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420668	NM_006914.4(RORB):c.1369G>A (p.Gly457Ser)	LOC124310566, RORB (G457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406897	NM_006914.4(RORB):c.1312G>A (p.Val438Met)	LOC124310566, RORB (V438M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404933	NM_006914.4(RORB):c.1319C>T (p.Thr440Ile)	LOC124310566, RORB (T451I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380412	NM_006914.4(RORB):c.1294C>A (p.Gln432Lys)	LOC124310566, RORB (Q432K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359541	NM_006914.4(RORB):c.1270G>A (p.Gly424Arg)	LOC124310566, RORB (G435R +1 more)	Single nucleotide variant (missense variant)	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 872018	NM_006914.4(RORB):c.751C>T (p.Gln251Ter)	RORB (Q251* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 688823	GRCh37/hg19 9q21.13(chr9:77207618-77322005)x3	RORB	Copy number gain	not provided	GUncertain significance
Select item 685390	GRCh37/hg19 9q21.13(chr9:76268525-77162885)x3	RORB	Copy number gain	not provided	GUncertain significance
Select item 624360	NM_006914.4(RORB):c.1300C>G (p.His434Asp)	LOC124310566, RORB (H434D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563652	GRCh37/hg19 9q21.13(chr9:76493129-77182781)x1	RORB	Copy number loss	not provided	GUncertain significance
Select item 223147	9q21.13 deletion	RORB, RORB-AS1 +2 more	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41