Related gene-specific medical variations for Gene (Select 22930) - ClinVar - NCBI

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

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360628	NM_012233.3(RAB3GAP1):c.92A>C (p.Glu31Ala)	RAB3GAP1 (E31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359801	NM_012233.3(RAB3GAP1):c.859C>T (p.His287Tyr)	RAB3GAP1 (H287Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247545	NC_000002.11:g.(?_135848548)_(135851283_?)dup	RAB3GAP1	Duplication	not provided	GLikely pathogenic
Select item 3247544	NC_000002.11:g.(?_135907919)_(135926351_?)del	RAB3GAP1	Deletion	not provided	GUncertain significance
Select item 3247543	NC_000002.11:g.(?_135809878)_(135810075_?)del	RAB3GAP1	Deletion	not provided	GPathogenic
Select item 3247542	NC_000002.11:g.(?_135809878)_(135926351_?)del	RAB3GAP1	Deletion	not provided	GPathogenic
Select item 3242259	NM_012233.3(RAB3GAP1):c.2709+1G>T	RAB3GAP1	Single nucleotide variant (splice donor variant)	Martsolf syndrome 2	GPathogenic
Select item 3065165	NM_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)	RAB3GAP1 (F331L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 3061955	NM_012233.3(RAB3GAP1):c.2710-1G>A	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic
Select item 2435352	NM_012233.3(RAB3GAP1):c.2005C>T (p.His669Tyr)	RAB3GAP1 (H669Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432909	NM_012233.3(RAB3GAP1):c.2121T>G (p.Tyr707Ter)	RAB3GAP1 (Y707*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1344740	NM_012233.3(RAB3GAP1):c.2840G>A (p.Arg947His)	RAB3GAP1 (R947H +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 986852	NM_012233.3(RAB3GAP1):c.482+1G>A	RAB3GAP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 871364	GRCh37/hg19 2q21.3(chr2:135848568-135891603)x3	RAB3GAP1	Copy number gain	not provided	GPathogenic
Select item 808802	NM_012233.3(RAB3GAP1):c.2650G>A (p.Gly884Ser)	RAB3GAP1 (G884S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808801	NM_012233.3(RAB3GAP1):c.2421C>G (p.Ile807Met)	RAB3GAP1 (I807M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689067	GRCh37/hg19 2q21.3(chr2:135825388-135916905)x1	RAB3GAP1	Copy number loss	not provided	GUncertain significance
Select item 591533	NM_012233.3(RAB3GAP1):c.831-1G>A	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance