C0796037[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248985	NM_012414.4(RAB3GAP2):c.3868-31C>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +2 more	GBenign
Select item 130078	NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala)	RAB3GAP2 (T863A)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GBenign
Select item 138861	NM_012414.4(RAB3GAP2):c.1041-18A>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +3 more	GBenign

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