MSRB2[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 2287808	NM_012228.4(MSRB2):c.14T>G (p.Leu5Arg)	LOC130003509, MSRB2 (L24R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278568	NM_012228.4(MSRB2):c.55C>T (p.Arg19Trp)	LOC130003509, MSRB2 (R19W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520747	NM_012228.4(MSRB2):c.61G>A (p.Val21Met)	LOC130003509, MSRB2 (V40M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508657	NM_012228.4(MSRB2):c.74C>A (p.Ala25Glu)	LOC130003509, MSRB2 (A25E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233150	NM_012228.4(MSRB2):c.92G>C (p.Gly31Ala)	LOC130003509, MSRB2 (G31A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363940	NM_012228.4(MSRB2):c.94A>C (p.Thr32Pro)	LOC130003509, MSRB2 (T32P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226806	NM_012228.4(MSRB2):c.113A>G (p.Glu38Gly)	LOC130003509, MSRB2 (E38G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207086	NM_012228.4(MSRB2):c.151A>G (p.Lys51Glu)	MSRB2 (K51E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278064	NM_012228.4(MSRB2):c.193G>A (p.Val65Ile)	MSRB2 (V65I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350255	NM_012228.4(MSRB2):c.196A>G (p.Thr66Ala)	MSRB2 (T85A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363541	NM_012228.4(MSRB2):c.243T>A (p.Asn81Lys)	MSRB2 (N81K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486423	NM_012228.4(MSRB2):c.422G>A (p.Arg141His)	MSRB2 (R160H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272984	NM_012228.4(MSRB2):c.472C>T (p.Pro158Ser)	MSRB2 (P158S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526545	NM_012228.4(MSRB2):c.526A>G (p.Lys176Glu)	MSRB2 (K176E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
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: 25