"Ambry Genetics"[submitter] AND "RABGGTB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2308514	NM_004582.4(RABGGTB):c.79A>G (p.Ile27Val)	RABGGTB (I27V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480784	NM_004582.4(RABGGTB):c.243A>C (p.Glu81Asp)	RABGGTB (E81D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513895	NM_004582.4(RABGGTB):c.317C>T (p.Thr106Met)	RABGGTB (T106M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589946	NM_004582.4(RABGGTB):c.333T>G (p.Ile111Met)	RABGGTB (I111M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615646	NM_004582.4(RABGGTB):c.409A>G (p.Ile137Val)	RABGGTB (I137V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350856	NM_004582.4(RABGGTB):c.698C>T (p.Pro233Leu)	RABGGTB (P233L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336546	NM_004582.4(RABGGTB):c.773T>C (p.Ile258Thr)	RABGGTB (I258T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar