"Ambry Genetics"[submitter] AND "VPS36"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2339219	NM_016075.4(VPS36):c.893A>C (p.Lys298Thr)	VPS36 (K289T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375439	NM_016075.4(VPS36):c.800C>T (p.Thr267Met)	VPS36 (T209M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489255	NM_016075.4(VPS36):c.362G>A (p.Arg121His)	VPS36 (R112H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232563	NM_016075.4(VPS36):c.340G>T (p.Gly114Cys)	VPS36 (G114C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262155	NM_016075.4(VPS36):c.185T>C (p.Leu62Pro)	VPS36 (L4P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2296942	NM_016075.4(VPS36):c.135C>G (p.His45Gln)	VPS36 (H45Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613182	NM_016075.4(VPS36):c.82G>A (p.Asp28Asn)	VPS36 (D28N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538233	NM_016075.4(VPS36):c.5A>G (p.Asp2Gly)	VPS36 (D2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar