ClinVar for MedGen (Select 147590) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213881	NM_021620.4(PRDM13):c.1714G>A (p.Gly572Ser)	PRDM13 (G572S)	Single nucleotide variant (missense variant)	North Carolina macular dystrophy	GUncertain significance
Select item 963020	NM_021620.4(PRDM13):c.870C>T (p.Gly290=)	PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 812377	NC_000006.12:g.99593098A>C	LOC111365204, PRDM13	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 625874	NC_000006.12:g.99598907A>C	LOC111365204	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic
Select item 446241	NC_000006.12:g.99593164C>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GUncertain significance
Select item 446240	NC_000006.12:g.99593111G>C	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic
Select item 446239	NC_000006.12:g.99593030G>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic

ClinVar