ClinVar for MedGen (Select 371314) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327586	NM_004698.4(PRPF3):c.1224AGA[1] (p.Glu409del)	PRPF3 (E274del +1 more)	Microsatellite (inframe_deletion +1 more)	Retinitis pigmentosa 18	GUncertain significance
Select item 982384	NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro)	PRPF3 (A367P +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 18	GLikely pathogenic
Select item 932134	NM_004698.4(PRPF3):c.508-13C>G	PRPF3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930598	NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile)	PRPF3 (T167I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 18	GUncertain significance
Select item 812123	NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr)	PRPF3 (D294Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 18	GPathogenic
Select item 801541	NM_004698.4(PRPF3):c.-48-2A>T	PRPF3	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 18	GUncertain significance
Select item 292503	NM_004698.4(PRPF3):c.1760-12C>T	PRPF3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3354	NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp)	PRPF3 (A489D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 18	GPathogenic
Select item 3353	NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)	PRPF3 (P493S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3352	NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	PRPF3 (T494M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity