C0265223[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262657	NM_152564.5(VPS13B):c.1206+33T>G	VPS13B (Y413*)	Single nucleotide variant (nonsense +2 more)	not specified +1 more	GBenign
Select item 95848	NM_152564.5(VPS13B):c.3667-7C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome +2 more	GBenign
Select item 589589	NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)	VPS13B (R2177H +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GConflicting classifications of pathogenicity
Select item 95875	NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)	VPS13B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95876	NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)	VPS13B (R3198W)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 95823	NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)	VPS13B (Y3523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 95826	NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)	VPS13B (A3691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 198013	NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	VPS13B (R3732Q +1 more)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GConflicting classifications of pathogenicity

ClinVar