C0751202[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 117	NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	CBS (G307S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GPathogenic
Select item 1698846	NM_000071.3(CBS):c.667-14C>G	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +1 more	GConflicting classifications of pathogenicity
Select item 371345	NM_000071.3(CBS):c.19dup (p.Gln7fs)	CBS (Q7fs)	Duplication (frameshift variant)	Homocystinuria +3 more	GPathogenic

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