ClinVar for MedGen (Select 5691) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523319	NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer)	CLCN5	Deletion (frameshift variant)	Hyperkalemia +2 more	GLikely pathogenic
Select item 374041	NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)	COL4A4 (E1019Q)	Single nucleotide variant (missense variant)	Hypertensive disorder +3 more	GUncertain significance
Select item 255039	NM_000092.5(COL4A4):c.4217-15T>C	COL4A4	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity

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