baptista lactea - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497263	NM_003000.3(SDHB):c.73-8A>G	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 30076	NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu)	MASP1 (G666E)	Single nucleotide variant (missense variant +2 more)	3MC syndrome 1	GPathogenic
Select item 993757	NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)	NOTCH3 (W1028C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 655043	NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg)	DEPDC5 (T309R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 447244	NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys)	DEPDC5 (R728C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 42454	NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	GLA, RPL36A-HNRNPH2 (R118C +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity

ClinVar