RABL2B[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976870	NC_000022.11:g.43802117_50806121del	PRR5-ARHGAP8, RABL2B +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	ACR, ADM2 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	FAM118A, FBLN1 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	ACR, ADM2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	ACR, ADM2 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	ACR, ADM2 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	LOC130067876, LOC130067889 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	ACR, ADM2 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 150859	GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 151095	GRCh38/hg38 22q13.33(chr22:50642219-50780522)x3	ACR, LOC105373100 +5 more	Copy number gain	See cases	GUncertain significance
Select item 151977	GRCh38/hg38 22q13.33(chr22:50685063-50780581)x1	ACR, LOC105373100 +4 more	Copy number loss	See cases	GPathogenic
Select item 149104	GRCh38/hg38 22q13.33(chr22:50694375-50780581)x1	ACR, LOC105373100 +4 more	Copy number loss	See cases	GPathogenic
Select item 3150943	NM_001130919.3(RABL2B):c.656C>T (p.Thr219Ile)	RABL2B (T219I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769168	NM_001130919.3(RABL2B):c.591+7C>A	RABL2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719849	NM_001130919.3(RABL2B):c.526C>T (p.Arg176Ter)	RABL2B (R176* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2240520	NM_001130919.3(RABL2B):c.507+4T>C	RABL2B (W171R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301948	NM_001130919.3(RABL2B):c.497A>G (p.Asn166Ser)	RABL2B (N165S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527905	NM_001130919.3(RABL2B):c.475G>A (p.Val159Ile)	RABL2B (V159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150941	NM_001130919.3(RABL2B):c.429A>C (p.Gln143His)	RABL2B (Q142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150940	NM_001130919.3(RABL2B):c.398A>G (p.Asn133Ser)	RABL2B (N133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150939	NM_001130919.3(RABL2B):c.326A>G (p.Tyr109Cys)	RABL2B (Y109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206263	NM_001130919.3(RABL2B):c.286G>A (p.Ala96Thr)	RABL2B (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383800	NM_001130919.3(RABL2B):c.229A>C (p.Thr77Pro)	RABL2B (T77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312241	NM_001130919.3(RABL2B):c.208A>C (p.Ile70Leu)	RABL2B (I70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312243	NM_001130919.3(RABL2B):c.194T>G (p.Val65Gly)	RABL2B (V65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244908	NM_001130919.3(RABL2B):c.181C>T (p.His61Tyr)	RABL2B (H61Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150937	NM_001130919.3(RABL2B):c.133G>A (p.Gly45Ser)	RABL2B (G45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204978	NM_001130919.3(RABL2B):c.117G>T (p.Glu39Asp)	RABL2B (E39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219650	NM_001130919.3(RABL2B):c.113T>C (p.Met38Thr)	RABL2B (M38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409693	NM_001130919.3(RABL2B):c.91G>A (p.Ala31Thr)	RABL2B (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237768	NM_001130919.3(RABL2B):c.52G>A (p.Ala18Thr)	RABL2B (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279772	NM_001130919.3(RABL2B):c.37C>A (p.Gln13Lys)	RABL2B (Q13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242288	GRCh37/hg19 22q13.33(chr22:51160350-51304566)x2	ACR, RABL2B +1 more	Copy number loss	not provided	GPathogenic
Select item 3024624	GRCh37/hg19 22q13.33(chr22:51123013-51220722)x1	ACR, RABL2B +1 more	Copy number loss	not provided	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	PIM3, PLXNB2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	PPP6R2, SELENOO +35 more	Copy number loss	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1695056	GRCh37/hg19 22q13.33(chr22:51207204-51220722)x1	RABL2B	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	MIOX, PPP6R2 +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1047893	GRCh37/hg19 22q13.33(chr22:51123491-51219009)	ACR, RABL2B +1 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 982251	Single allele	ACR, RABL2B +1 more	Deletion	Intellectual disability	GPathogenic
Select item 979616	GRCh37/hg19 22q13.33(chr22:51122307-51224091)x1	RABL2B, SHANK3 +1 more	Copy number loss	not provided	GPathogenic
Select item 395399	GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1	ACR, ADM2 +36 more	Copy number loss	See cases	GPathogenic
Select item 395142	GRCh37/hg19 22q13.33(chr22:51182469-51220902)x3	ACR, RABL2B	Copy number gain	See cases	GBenign
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 393759	GRCh37/hg19 22q13.33(chr22:51123491-51237463)x1	ACR, RABL2B +1 more	Copy number loss	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253555	GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1	KLHDC7B, ODF3B +14 more	Copy number loss	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 223118	Single allele	MOV10L1, SELENOO +33 more	Deletion	Autism spectrum disorder	GPathogenic
Select item 223117	Single allele	ACR, ARSA +3 more	Deletion	Autism spectrum disorder +1 more	GPathogenic

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Items: 59