C1845667[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579243	GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 9910	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR (E1033fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +5 more	GPathogenic
Select item 866381	NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)	RPGR (E1031fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1 +5 more	GPathogenic
Select item 989390	NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)	RPGR (E980fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 866254	NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)	RPGR (E967fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 813994	NM_001034853.2(RPGR):c.2824del (p.Glu942fs)	RPGR (E942fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 817877	NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)	RPGR (E926fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 865886	NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)	RPGR (E839fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
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 975145	NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)	RPGR (E795*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 866644	NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)	RPGR (G766fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 865892	NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)	RPGR (G753fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3 +4 more	GPathogenic
Select item 866530	NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)	RPGR (R745fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 438142	NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	RPGR (E746fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa +7 more	GPathogenic/Likely pathogenic
Select item 2579245	GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic
Select item 2579244	GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0	RPGR	Copy number loss	Retinitis pigmentosa 3	GPathogenic