"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAB3GAP2" - 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 211989	NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	RAB3GAP2 (I1354V)	Single nucleotide variant (missense variant)	Martsolf syndrome +4 more	GConflicting classifications of pathogenicity
Select item 287195	NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)	RAB3GAP2 (L1331I)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +3 more	GBenign/Likely benign
Select item 2933804	NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +2 more	GLikely benign
Select item 211988	NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +3 more	GBenign
Select item 295640	NM_012414.4(RAB3GAP2):c.3867+13C>T	RAB3GAP2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 287196	NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)	RAB3GAP2 (Y1281C)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2950120	NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +2 more	GLikely benign
Select item 1581629	NM_012414.4(RAB3GAP2):c.3337-6C>T	RAB3GAP2	Single nucleotide variant (intron variant)	RAB3GAP2-related disorder +2 more	GLikely benign
Select item 295643	NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)	RAB3GAP2 (H1048R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2924285	NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +2 more	GLikely benign
Select item 3029288	NM_012414.4(RAB3GAP2):c.2607A>G (p.Ser869=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	RAB3GAP2-related disorder	GLikely benign
Select item 1167826	NM_012414.4(RAB3GAP2):c.2417-4A>G	RAB3GAP2	Single nucleotide variant (intron variant)	RAB3GAP2-related disorder +2 more	GBenign/Likely benign
Select item 295651	NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 235683	NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)	RAB3GAP2 (L764F)	Single nucleotide variant (missense variant)	Martsolf syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1254758	NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu)	RAB3GAP2 (S761L)	Single nucleotide variant (missense variant)	RAB3GAP2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 295652	NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)	RAB3GAP2 (V723E)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2636344	NM_012414.4(RAB3GAP2):c.2091dup (p.Val698fs)	RAB3GAP2 (V698fs)	Duplication (frameshift variant)	RAB3GAP2-related disorder	GLikely pathogenic
Select item 295657	NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser)	RAB3GAP2 (N570S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 3029930	NM_012414.4(RAB3GAP2):c.1584G>A (p.Val528=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	RAB3GAP2-related disorder	GLikely benign
Select item 518198	NM_012414.4(RAB3GAP2):c.1281C>T (p.Asp427=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 3029641	NM_012414.4(RAB3GAP2):c.1231T>C (p.Leu411=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	RAB3GAP2-related disorder	GLikely benign
Select item 378452	NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2067114	NM_012414.4(RAB3GAP2):c.304+15A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +2 more	GLikely benign
Select item 767261	NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)	RAB3GAP2 (P38S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295673	NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign

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