"SIB Swiss Institute of Bioinformatics"[submitter] AND "PRR12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1013597	NM_020719.3(PRR12):c.790C>T (p.Gln264Ter)	PRR12 (Q264*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 1676829	NM_020719.3(PRR12):c.1232C>A (p.Ser411Ter)	PRR12 (S411*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 1676830	NM_020719.3(PRR12):c.1521T>G (p.Tyr507Ter)	PRR12 (Y507*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GPathogenic
Select item 446254	NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)	PRR12 (E640*)	Single nucleotide variant (nonsense)	Autism +5 more	GPathogenic
Select item 1013594	NM_020719.3(PRR12):c.2755C>T (p.Gln919Ter)	PRR12 (Q919*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 1285639	NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)	PRR12 (R1169W)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1676831	NM_020719.3(PRR12):c.3958C>T (p.Arg1320Ter)	PRR12 (R1320*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 1285640	NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)	PRR12 (L1970P)	Single nucleotide variant (missense variant)	Neuroocular syndrome +1 more	GConflicting classifications of pathogenicity

ClinVar