ClinVar for Gene (Select 22921) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296461	NM_012228.4(MSRB2):c.212C>T (p.Thr71Met)	MSRB2 (T71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212289	NM_012228.4(MSRB2):c.7C>T (p.Arg3Trp)	LOC130003509, MSRB2 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212274	NM_012228.4(MSRB2):c.44C>T (p.Thr15Ile)	LOC130003509, MSRB2 (T15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212269	NM_012228.4(MSRB2):c.421C>T (p.Arg141Cys)	MSRB2 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212265	NM_012228.4(MSRB2):c.292T>C (p.Phe98Leu)	MSRB2 (F98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212262	NM_012228.4(MSRB2):c.271G>A (p.Val91Met)	MSRB2 (V91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2526545	NM_012228.4(MSRB2):c.526A>G (p.Lys176Glu)	MSRB2 (K176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520747	NM_012228.4(MSRB2):c.61G>A (p.Val21Met)	LOC130003509, MSRB2 (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508657	NM_012228.4(MSRB2):c.74C>A (p.Ala25Glu)	LOC130003509, MSRB2 (A25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486423	NM_012228.4(MSRB2):c.422G>A (p.Arg141His)	MSRB2 (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363940	NM_012228.4(MSRB2):c.94A>C (p.Thr32Pro)	LOC130003509, MSRB2 (T32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363541	NM_012228.4(MSRB2):c.243T>A (p.Asn81Lys)	MSRB2 (N81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350255	NM_012228.4(MSRB2):c.196A>G (p.Thr66Ala)	MSRB2 (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287808	NM_012228.4(MSRB2):c.14T>G (p.Leu5Arg)	LOC130003509, MSRB2 (L5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278568	NM_012228.4(MSRB2):c.55C>T (p.Arg19Trp)	LOC130003509, MSRB2 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278064	NM_012228.4(MSRB2):c.193G>A (p.Val65Ile)	MSRB2 (V65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272984	NM_012228.4(MSRB2):c.472C>T (p.Pro158Ser)	MSRB2 (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233150	NM_012228.4(MSRB2):c.92G>C (p.Gly31Ala)	LOC130003509, MSRB2 (G31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226806	NM_012228.4(MSRB2):c.113A>G (p.Glu38Gly)	LOC130003509, MSRB2 (E38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207086	NM_012228.4(MSRB2):c.151A>G (p.Lys51Glu)	MSRB2 (K51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ARL5B, LARP4B +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)	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
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +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 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31