"Revvity Omics, Revvity"[submitter] AND "RNF14"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434599	NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)	PCDH12, RNF14 (E1015K)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 1323420	NM_016580.4(PCDH12):c.2563C>T (p.Gln855Ter)	PCDH12, RNF14 (Q855*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GPathogenic
Select item 1656563	NM_016580.4(PCDH12):c.2051C>A (p.Pro684His)	PCDH12, RNF14 (P684H)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1878726	NM_016580.4(PCDH12):c.1972G>A (p.Val658Ile)	PCDH12, RNF14 (V658I)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GUncertain significance
Select item 2690666	NM_016580.4(PCDH12):c.1082C>G (p.Ser361Ter)	PCDH12, RNF14 (S361*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GLikely pathogenic
Select item 620173	NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)	PCDH12, RNF14 (R308*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GPathogenic/Likely pathogenic

ClinVar