ClinVar for MedGen (Select 1643295) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708378	NM_003322.6(TULP1):c.162dup (p.Thr55fs)	TULP1 (T55fs)	Duplication (frameshift variant)	Retinitis pigmentosa 14 +1 more	GPathogenic/Likely pathogenic
Select item 1708278	NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)	USH2A, USH2A-AS1 (Q1244*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic
Select item 548448	NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)	SCAPER	Deletion (nonsense +1 more)	Pigmentary retinopathy +5 more	GPathogenic
Select item 523487	NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)	TOPORS (H889R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31 +8 more	GUncertain significance
Select item 523486	NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)	TOPORS (G460A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31 +4 more	GUncertain significance
Select item 523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS, PHF3 (E2840G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary retinopathy +11 more	GUncertain significance
Select item 98671	NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	PRPH2 (D157N)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +8 more	GPathogenic/Likely pathogenic
Select item 2358	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Single nucleotide variant (synonymous variant)	Rare genetic deafness +10 more	GPathogenic

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