NRBF2[gene] - ClinVar

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

Search results

Items: 33

	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	LOC129390180, LOC129390181 +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 3202024	NM_030759.5(NRBF2):c.64T>G (p.Leu22Val)	NRBF2 (L22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300992	NM_030759.5(NRBF2):c.109G>A (p.Ala37Thr)	NRBF2 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621179	NM_030759.5(NRBF2):c.112G>A (p.Ala38Thr)	NRBF2 (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265661	NM_030759.5(NRBF2):c.157G>A (p.Ala53Thr)	NRBF2 (A43T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202019	NM_030759.5(NRBF2):c.241G>A (p.Glu81Lys)	NRBF2 (E71K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559965	NM_030759.5(NRBF2):c.281C>T (p.Ala94Val)	NRBF2 (A84V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383325	NM_030759.5(NRBF2):c.526G>A (p.Ala176Thr)	NRBF2 (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405502	NM_030759.5(NRBF2):c.564G>C (p.Glu188Asp)	NRBF2 (E178D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202021	NM_030759.5(NRBF2):c.574T>G (p.Leu192Val)	NRBF2 (L192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202022	NM_030759.5(NRBF2):c.631A>G (p.Ile211Val)	NRBF2 (I201V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202023	NM_030759.5(NRBF2):c.637A>G (p.Lys213Glu)	NRBF2 (K213E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605470	NM_030759.5(NRBF2):c.646G>A (p.Asp216Asn)	NRBF2 (D206N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202025	NM_030759.5(NRBF2):c.758C>G (p.Ala253Gly)	NRBF2 (A243G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398285	NM_030759.5(NRBF2):c.780T>G (p.Asn260Lys)	NRBF2 (N250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475688	NM_030759.5(NRBF2):c.850T>A (p.Phe284Ile)	NRBF2 (F274I +1 more)	Single nucleotide variant (missense variant)	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 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)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1372882	NC_000010.10:g.(?_64572967)_(65225422_?)del	EGR2, JMJD1C +1 more	Deletion	Early myoclonic encephalopathy +1 more	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 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
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 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 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: 33