ClinVar for Gene (Select 5865) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312147	NM_002867.4(RAB3B):c.196C>T (p.Arg66Cys)	RAB3B (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150715	NM_002867.4(RAB3B):c.557A>G (p.Lys186Arg)	RAB3B (K186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150714	NM_002867.4(RAB3B):c.532C>T (p.Arg178Cys)	RAB3B (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150713	NM_002867.4(RAB3B):c.496G>A (p.Ala166Thr)	RAB3B (A166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150712	NM_002867.4(RAB3B):c.349G>T (p.Ala117Ser)	RAB3B (A117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150711	NM_002867.4(RAB3B):c.310A>G (p.Ile104Val)	RAB3B (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150710	NM_002867.4(RAB3B):c.262A>G (p.Thr88Ala)	RAB3B (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2530413	NM_002867.4(RAB3B):c.371C>T (p.Ser124Phe)	RAB3B (S124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482352	NM_002867.4(RAB3B):c.529G>A (p.Glu177Lys)	RAB3B (E177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481509	NM_002867.4(RAB3B):c.547A>G (p.Ile183Val)	RAB3B (I183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283111	NM_002867.4(RAB3B):c.611C>T (p.Thr204Met)	RAB3B (T204M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2246027	NM_002867.4(RAB3B):c.131A>G (p.Asp44Gly)	RAB3B (D44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232277	NM_002867.4(RAB3B):c.483C>A (p.Phe161Leu)	RAB3B (F161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223895	NM_002867.4(RAB3B):c.254G>A (p.Arg85Gln)	RAB3B (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 1526993	GRCh37/hg19 1p32.3(chr1:51755130-52521150)	EPS15, KTI12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic
Select item 145934	GRCh38/hg38 1p32.3(chr1:51814691-51941708)x3	LOC112590802, LOC126805732 +4 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 25