"OMIM"[submitter] AND "PRR12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446254	NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)	PRR12 (E640*)	Single nucleotide variant (nonsense)	Autism +5 more	GPathogenic
Select item 1013592	NM_020719.3(PRR12):c.3273del (p.Lys1092fs)	PRR12 (K1092fs)	Deletion (frameshift variant)	not provided +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 446255	NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)	PRR12 (L1501fs)	Deletion (frameshift variant)	Abnormality of vision +4 more	GPathogenic
Select item 1184838	NM_020719.3(PRR12):c.5624-2A>G	PRR12	Single nucleotide variant (splice acceptor variant)	complex microphthalmia +1 more	GPathogenic/Likely pathogenic
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