ClinVar for MedGen (Select 384526) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1250700	NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp)	LIPJ, LOC130004283 +1 more (E37D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 430696	NM_001002295.2(GATA3):c.1051-1G>C	GATA3	Single nucleotide variant (splice acceptor variant)	Stage 5 chronic kidney disease	GPathogenic
Select item 374506	NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)	ALMS1 (R579fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 374141	NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)	PKD1 (P694fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
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 specified +6 more	GConflicting classifications of pathogenicity

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