C0265223[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402219	NM_152564.5(VPS13B):c.412+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Abnormal brain morphology +1 more	GPathogenic/Likely pathogenic
Select item 800514	NM_152564.5(VPS13B):c.2014-2A>G	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GPathogenic
Select item 56664	NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)	VPS13B (R1471* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 845268	NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)	VPS13B (V1749fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 280580	NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)	VPS13B (L2042* +1 more)	Single nucleotide variant (nonsense)	Cohen syndrome +2 more	GPathogenic/Likely pathogenic
Select item 279780	NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	VPS13B (E2268* +1 more)	Single nucleotide variant (nonsense)	VPS13B-related condition +2 more	GPathogenic/Likely pathogenic
Select item 2826	NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	VPS13B (L3062fs +1 more)	Duplication (frameshift variant)	Cohen syndrome +1 more	GPathogenic
Select item 635086	NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)	VPS13B (F3520fs +1 more)	Microsatellite (frameshift variant)	Cohen syndrome	GPathogenic/Likely pathogenic

ClinVar