ClinVar for MedGen (Select 356743) - ClinVar - NCBI

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Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13279681.	NM_203288.2(RP9):c.313+44T>A GRCh37: Chr7:33138875 GRCh38: Chr7:33099263	RP9		Retinitis pigmentosa 9	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 9120742.	NM_203288.2(RP9):c.32G>A (p.Gly11Glu) GRCh37: Chr7:33148953 GRCh38: Chr7:33109341	LOC129998225, RP9	G11E	Inborn genetic diseases, Retinitis pigmentosa 9, not provided, Retinitis pigmentosa	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3600453.	NM_203288.2(RP9):c.314-9C>T GRCh37: Chr7:33136983 GRCh38: Chr7:33097371	RP9		Retinitis pigmentosa, not provided, Retinitis pigmentosa 9	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1982954.	NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) GRCh37: Chr7:33134848 GRCh38: Chr7:33095236	RP9		Retinitis Pigmentosa, Dominant, not specified, not provided, Retinitis pigmentosa 9	Benign/Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1676095.	NM_203288.2(RP9):c.629A>G (p.Lys210Arg) GRCh37: Chr7:33134883 GRCh38: Chr7:33095271	RP9	K210R	not provided, Retinitis pigmentosa, Retinitis pigmentosa 9, not specified	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33356.	NM_203288.2(RP9):c.509A>G (p.Asp170Gly) GRCh37: Chr7:33135003 GRCh38: Chr7:33095391	RP9	D170G	Retinitis pigmentosa	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 33347.	NM_203288.2(RP9):c.410A>T (p.His137Leu) GRCh37: Chr7:33136162 GRCh38: Chr7:33096550	RP9	H137L	Retinitis pigmentosa 9	Uncertain significance (Jul 1, 2006)	no assertion criteria provided