"Ambry Genetics"[submitter] AND "RPP14"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315244	NM_007042.6(RPP14):c.11C>T (p.Pro4Leu)	HTD2, RPP14 (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156139	NM_007042.6(RPP14):c.47C>T (p.Pro16Leu)	HTD2, RPP14 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336499	NM_007042.6(RPP14):c.49T>G (p.Ser17Ala)	HTD2, RPP14 (S17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315243	NM_007042.6(RPP14):c.146A>G (p.Lys49Arg)	HTD2, RPP14 (K49R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156138	NM_007042.6(RPP14):c.175T>A (p.Leu59Ile)	HTD2, RPP14 (L59I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373508	NM_007042.6(RPP14):c.284A>G (p.Tyr95Cys)	HTD2, RPP14 (Y95C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2336498	NM_007042.6(RPP14):c.352A>G (p.Ser118Gly)	HTD2, RPP14 (S118G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

ClinVar