"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PRDM5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379559	NM_018699.4(PRDM5):c.1855G>A (p.Val619Met)	PRDM5 (V553M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211098	NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)	PRDM5 (A515T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1506459	NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)	PRDM5 (E341K +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1759603	NM_018699.4(PRDM5):c.757C>A (p.Gln253Lys)	PRDM5 (Q222K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1193775	NM_018699.4(PRDM5):c.676A>T (p.Ser226Cys)	PRDM5 (S226C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 449806	NM_018699.4(PRDM5):c.248G>A (p.Arg83His)	PRDM5 (R83H)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 2 +2 more	GUncertain significance

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