ClinVar for MedGen (Select 394544) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24996191.	NM_006915.3(RP2):c.883+1del GRCh37: ChrX:46719537 GRCh38: ChrX:46860102	RP2		Retinitis pigmentosa 2	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 13313432.	NM_006915.3(RP2):c.761T>C (p.Ile254Thr) GRCh37: ChrX:46713569 GRCh38: ChrX:46854134	RP2	I254T	Retinitis pigmentosa 2	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 12996493.	NM_006915.3(RP2):c.969+3A>C GRCh37: ChrX:46737028 GRCh38: ChrX:46877593	RP2		Retinitis pigmentosa 2	Likely pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 12139094.	NM_006915.3(RP2):c.465_468dup (p.Phe157fs) GRCh37: ChrX:46713271-46713272 GRCh38: ChrX:46853836-46853837	RP2	F157fs	not provided, Retinitis pigmentosa 2	Pathogenic (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12139075.	NM_006915.3(RP2):c.434T>C (p.Phe145Ser) GRCh37: ChrX:46713242 GRCh38: ChrX:46853807	RP2	F145S	not provided, Retinitis pigmentosa 2	Conflicting interpretations of pathogenicity (Aug 30, 2021)	criteria provided, conflicting interpretations
Select item 12139066.	NM_006915.3(RP2):c.333_334del (p.Leu112fs) GRCh37: ChrX:46713141-46713142 GRCh38: ChrX:46853706-46853707	RP2	L112fs	Retinitis pigmentosa 2	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 11844787.	NM_006915.3(RP2):c.768+1G>A GRCh37: ChrX:46713577 GRCh38: ChrX:46854142	RP2		not provided	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 11726938.	NM_006915.3(RP2):c.524A>C (p.His175Pro) GRCh37: ChrX:46713332 GRCh38: ChrX:46853897	RP2	H175P	Retinitis pigmentosa 2	Likely pathogenic (May 25, 2021)	criteria provided, single submitter
Select item 10686819.	NM_006915.3(RP2):c.450G>A (p.Trp150Ter) GRCh37: ChrX:46713258 GRCh38: ChrX:46853823	RP2	W150*	not provided, Retinitis pigmentosa 2	Pathogenic (Jul 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106568610.	NM_006915.3(RP2):c.103-2A>G GRCh37: ChrX:46712909 GRCh38: ChrX:46853474	RP2		Retinitis pigmentosa 2	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 104816411.	NM_006915.3(RP2):c.884-9T>A GRCh37: ChrX:46736931 GRCh38: ChrX:46877496	RP2		Retinitis pigmentosa 2	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 104301512.	NM_006915.3(RP2):c.969+2T>C GRCh37: ChrX:46737027 GRCh38: ChrX:46877592	RP2		not provided, Retinitis pigmentosa 2	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 101190513.	NM_006915.3(RP2):c.286G>A (p.Val96Met) GRCh37: ChrX:46713094 GRCh38: ChrX:46853659	RP2	V96M	not provided, Inborn genetic diseases, Retinitis pigmentosa 2	Uncertain significance (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91470114.	NM_006915.3(RP2):c.496A>G (p.Ile166Val) GRCh37: ChrX:46713304 GRCh38: ChrX:46853869	RP2	I166V	Retinitis pigmentosa, Retinitis pigmentosa 2	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87119915.	NM_006915.3(RP2):c.299dup (p.Phe101fs) GRCh37: ChrX:46713106-46713107 GRCh38: ChrX:46853671-46853672	RP2	F101fs	not provided	Pathogenic (Nov 1, 2019)	criteria provided, single submitter
Select item 86616716.	NM_006915.3(RP2):c.768G>C (p.Glu256Asp) GRCh37: ChrX:46713576 GRCh38: ChrX:46854141	RP2	E256D	not provided, Retinitis pigmentosa 2	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 86046717.	NM_006915.3(RP2):c.409_411del (p.Ile137del) GRCh37: ChrX:46713217-46713219 GRCh38: ChrX:46853782-46853784	RP2	I137del	Retinal dystrophy, not provided, Retinitis pigmentosa 2	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81161418.	NM_006915.3(RP2):c.613G>A (p.Glu205Lys) GRCh37: ChrX:46713421 GRCh38: ChrX:46853986	RP2	E205K	Retinitis pigmentosa 2, Inborn genetic diseases, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80398819.	NM_006915.3(RP2):c.884-14G>A GRCh37: ChrX:46736926 GRCh38: ChrX:46877491	RP2		Retinal dystrophy, Retinitis pigmentosa 2, Retinitis pigmentosa 3, not provided	Conflicting interpretations of pathogenicity (May 7, 2022)	criteria provided, conflicting interpretations
Select item 76424520.	NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr) GRCh37: ChrX:46739152 GRCh38: ChrX:46879717	RP2	S334Y	not specified, not provided, Retinitis pigmentosa 2	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73735221.	NM_006915.3(RP2):c.751A>G (p.Arg251Gly) GRCh37: ChrX:46713559 GRCh38: ChrX:46854124	RP2	R251G	not provided, Retinitis pigmentosa 2	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63609922.	NM_006915.3(RP2):c.49C>T (p.Pro17Ser) GRCh37: ChrX:46696584 GRCh38: ChrX:46837149	LOC130068202, RP2	P17S	Retinitis pigmentosa 2, not specified	Uncertain significance (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63548023.	NM_006915.3(RP2):c.758del (p.Leu253fs) GRCh37: ChrX:46713566 GRCh38: ChrX:46854131	RP2	L253fs	Retinitis pigmentosa 2	Likely pathogenic (Feb 4, 2019)	no assertion criteria provided
Select item 58738924.	NM_006915.3(RP2):c.314G>A (p.Cys105Tyr) GRCh37: ChrX:46713122 GRCh38: ChrX:46853687	RP2	C105Y	Retinitis pigmentosa 2	Uncertain significance (Aug 21, 2018)	criteria provided, single submitter
Select item 43794425.	NM_006915.3(RP2):c.352C>T (p.Arg118Cys) GRCh37: ChrX:46713160 GRCh38: ChrX:46853725	RP2	R118C	Retinal dystrophy, Retinitis pigmentosa 2, not provided	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41845826.	NM_006915.3(RP2):c.8G>C (p.Cys3Ser) GRCh37: ChrX:46696543 GRCh38: ChrX:46837108	LOC130068202, RP2	C3S	not provided, Retinitis pigmentosa 2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 19644427.	NM_006915.3(RP2):c.844C>T (p.Arg282Trp) GRCh37: ChrX:46719498 GRCh38: ChrX:46860063	RP2	R282W	not specified, not provided, Retinitis pigmentosa, Retinitis pigmentosa 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1055128.	NM_006915.3(RP2):c.358C>T (p.Arg120Ter) GRCh37: ChrX:46713166 GRCh38: ChrX:46853731	RP2	R120*	Retinal dystrophy, not provided, Retinitis pigmentosa, Retinitis pigmentosa 2	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1054929.	NM_006915.3(RP2):c.353G>T (p.Arg118Leu) GRCh37: ChrX:46713161 GRCh38: ChrX:46853726	RP2	R118L	Retinitis pigmentosa 2	Pathogenic (Aug 1, 2001)	no assertion criteria provided
Select item 1054830.	NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4) GRCh37: ChrX:46713261 GRCh38: ChrX:46853826	RP2	Y152fs	Retinitis pigmentosa 2	Pathogenic (Aug 1, 1998)	no assertion criteria provided
Select item 1054731.	NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) GRCh37: ChrX:46713261 GRCh38: ChrX:46853826	RP2	Y151*	Retinitis pigmentosa 2	Pathogenic (Aug 1, 1998)	no assertion criteria provided
Select item 1054632.	NM_006915.3(RP2):c.353G>A (p.Arg118His) GRCh37: ChrX:46713161 GRCh38: ChrX:46853726	RP2	R118H	Retinal dystrophy, not provided	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1054533.	NM_006915.3(RP2):c.76C>T (p.Gln26Ter) GRCh37: ChrX:46696611 GRCh38: ChrX:46837176	RP2	Q26*	not provided	Pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1054434.	NM_006915.3(RP2):c.16_18del (p.Ser6del) GRCh37: ChrX:46696550-46696552 GRCh38: ChrX:46837115-46837117	LOC130068202, RP2	S6del	not provided	Likely pathogenic (Jun 13, 2022)	criteria provided, single submitter

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Items: 34