RHOBTB1[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 2276107	NM_014836.5(RHOBTB1):c.2048G>C (p.Arg683Thr)	RHOBTB1 (R563T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311200	NM_014836.5(RHOBTB1):c.2008C>G (p.Arg670Gly)	RHOBTB1 (R550G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354402	NM_014836.5(RHOBTB1):c.1994G>A (p.Arg665His)	RHOBTB1 (R545H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602872	NM_014836.5(RHOBTB1):c.1830C>A (p.His610Gln)	RHOBTB1 (H490Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282595	NM_014836.5(RHOBTB1):c.1798T>C (p.Tyr600His)	RHOBTB1 (Y600H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410906	NM_014836.5(RHOBTB1):c.1606A>G (p.Met536Val)	RHOBTB1 (M536V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368762	NM_014836.5(RHOBTB1):c.1276A>G (p.Lys426Glu)	RHOBTB1 (K306E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291491	NM_014836.5(RHOBTB1):c.1258A>G (p.Thr420Ala)	RHOBTB1 (T300A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364706	NM_014836.5(RHOBTB1):c.1234C>T (p.Arg412Trp)	RHOBTB1 (R412W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539485	NM_014836.5(RHOBTB1):c.1117G>C (p.Gly373Arg)	RHOBTB1 (G253R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616537	NM_014836.5(RHOBTB1):c.1040A>C (p.Lys347Thr)	RHOBTB1 (K227T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2377239	NM_014836.5(RHOBTB1):c.934G>A (p.Glu312Lys)	RHOBTB1 (E192K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222479	NM_014836.5(RHOBTB1):c.545G>T (p.Gly182Val)	RHOBTB1 (G62V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620935	NM_014836.5(RHOBTB1):c.43A>C (p.Ile15Leu)	RHOBTB1 (I15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 155221	GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3	ADO, ARID5B +78 more	Copy number gain	See cases	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684604	GRCh37/hg19 10q21.2(chr10:62363798-63120161)x3	ANK3, CDK1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808430	GRCh37/hg19 10q21.1-21.2(chr10:60870153-63790451)x1	ANK3, ARID5B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 688024	GRCh37/hg19 10q21.1-21.2(chr10:59199424-62981900)x3	ANK3, BICC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39