"OMIM"[submitter] AND "PRDM13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446239	NC_000006.12:g.99593030G>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic
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 446240	NC_000006.12:g.99593111G>C	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic
Select item 446241	NC_000006.12:g.99593164C>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GUncertain significance
Select item 1342163	NM_021620.4(PRDM13):c.398-2_408del	PRDM13	Deletion (splice acceptor variant)	Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	GPathogenic
Select item 1693531	NM_021620.4(PRDM13):c.800del (p.Gly267fs)	PRDM13 (G267fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, IIA 17	GPathogenic
Select item 1693529	NM_021620.4(PRDM13):c.839del (p.Ala280fs)	PRDM13 (A280fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, IIA 17	GPathogenic
Select item 1693530	NM_021620.4(PRDM13):c.844del (p.Val282fs)	PRDM13 (V282fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, IIA 17	GPathogenic

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