ClinVar for MedGen (Select 98131) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077129	NM_001845.6(COL4A1):c.388-1G>C	COL4A1	Single nucleotide variant (splice acceptor variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GPathogenic/Likely pathogenic
Select item 598992	NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro)	LOC121392929, C2CD3 (L306P)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity