ClinVar for MedGen (Select 440716) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664727	NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)	RPGR (Q1080*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +3 more	GLikely pathogenic
Select item 1802237	NM_001034853.2(RPGR):c.1753+2T>G	RPGR	Single nucleotide variant (intron variant +1 more)	X-linked cone-rod dystrophy 1 +3 more	GLikely pathogenic
Select item 1707409	NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)	RPGR (L373fs +3 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +3 more	GLikely pathogenic
Select item 1412206	NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)	RPGR (E899del)	Microsatellite (inframe_deletion +1 more)	X-linked cone-rod dystrophy 1 +5 more	GConflicting classifications of pathogenicity
Select item 1276872	NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)	RPGR (M686K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +5 more	GBenign/Likely benign
Select item 1212352	NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)	RPGR	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +5 more	GLikely benign
Select item 866844	NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)	RPGR (E754*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +5 more	GPathogenic
Select item 454510	NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)	RPGR (E414Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GBenign/Likely benign
Select item 438142	NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	RPGR (E746fs)	Microsatellite (frameshift variant +1 more)	X-linked cone-rod dystrophy 1 +7 more	GPathogenic/Likely pathogenic
Select item 414013	NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)	RPGR (T570A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 255836	NM_001034853.2(RPGR):c.552G>T (p.Gln184His)	RPGR (Q184H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign
Select item 100560	NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)	RPGR (I75V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 91389	NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	RPGR (E802fs)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +8 more	GPathogenic/Likely pathogenic
Select item 9919	NM_001034853.2(RPGR):c.572_619+9del	RPGR	Deletion (splice donor variant)	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	GPathogenic
Select item 9912	NM_001034853.2(RPGR):c.469+1G>T	RPGR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic