C0751202[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136674	NM_000071.3(CBS):c.1145+7C>T	CBS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 92424	NM_000071.3(CBS):c.1080C>T (p.Ala360=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GBenign
Select item 522181	NM_000071.2(CBS):c.832_833ins68 (p.?)	CBS	Insertion	Classic homocystinuria	GLikely benign
Select item 120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS (I278T +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GPathogenic
Select item 92426	NM_000071.3(CBS):c.699C>T (p.Tyr233=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more	GBenign
Select item 136667	NM_000071.3(CBS):c.573G>A (p.Thr191=)	CBS	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 136666	NM_000071.3(CBS):c.531+11G>A	CBS	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign

ClinVar