ClinVar for MedGen (Select 462489) - ClinVar

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Items: 53

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25783351.	NM_000440.3(PDE6A):c.127G>A (p.Ala43Thr) GRCh37: Chr5:149324110 GRCh38: Chr5:149944547	PDE6A	A43T	Retinitis pigmentosa 43	Uncertain significance (Sep 1, 2023)	criteria provided, single submitter
Select item 24456002.	NM_000440.3(PDE6A):c.1054del (p.Gln352fs) GRCh37: Chr5:149286886 GRCh38: Chr5:149907323	PDE6A	Q271fs, Q352fs	Retinitis pigmentosa 43	Pathogenic (Mar 22, 2023)	no assertion criteria provided
Select item 16860153.	NM_000440.3(PDE6A):c.1838+1G>A GRCh37: Chr5:149265827 GRCh38: Chr5:149886264	PDE6A		Retinitis pigmentosa 43	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 14199454.	NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter) GRCh37: Chr5:149278047 GRCh38: Chr5:149898484	PDE6A	W429*	not provided, Retinitis pigmentosa 43	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13270035.	NM_000440.3(PDE6A):c.934-27_934-26del GRCh37: Chr5:149294596-149294597 GRCh38: Chr5:149915033-149915034	PDE6A		Retinitis pigmentosa 43	Benign (Sep 5, 2021)	criteria provided, single submitter
Select item 12970966.	NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) GRCh37: Chr5:149274790 GRCh38: Chr5:149895227	PDE6A	R562W	Retinitis pigmentosa 43, not provided, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12536797.	NM_000440.3(PDE6A):c.1408-34A>G GRCh37: Chr5:149276373 GRCh38: Chr5:149896810	PDE6A		Retinitis pigmentosa 43, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12138758.	NM_000440.3(PDE6A):c.2135+5G>A GRCh37: Chr5:149262987 GRCh38: Chr5:149883424	PDE6A		Retinitis pigmentosa 43, not provided	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12138749.	NM_000440.3(PDE6A):c.2135+1G>T GRCh37: Chr5:149262991 GRCh38: Chr5:149883428	PDE6A		not provided, Retinitis pigmentosa 43	Pathogenic/Likely pathogenic (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121387310.	NM_000440.3(PDE6A):c.2317C>T (p.Gln773Ter) GRCh37: Chr5:149245774 GRCh38: Chr5:149866211	PDE6A	Q773*	Retinitis pigmentosa 43	Pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 121387211.	NM_000440.3(PDE6A):c.1560dup (p.Cys521fs) GRCh37: Chr5:149275978-149275979 GRCh38: Chr5:149896415-149896416	PDE6A	C521fs	Retinitis pigmentosa 43	Pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 121387112.	NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter) GRCh37: Chr5:149279084 GRCh38: Chr5:149899521	PDE6A	E373*	not provided, Retinitis pigmentosa 43	Pathogenic (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106576913.	NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter) GRCh37: Chr5:149324032 GRCh38: Chr5:149944469	PDE6A	Q69*	Retinitis pigmentosa 43	Pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106573614.	NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg) GRCh37: Chr5:149274772 GRCh38: Chr5:149895209	PDE6A	G568R	Retinitis pigmentosa, Retinitis pigmentosa 43	Uncertain significance (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96161315.	NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln) GRCh37: Chr5:149274789 GRCh38: Chr5:149895226	PDE6A	R562Q	not provided, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Jul 17, 2023)	criteria provided, conflicting interpretations
Select item 93077016.	NM_000440.3(PDE6A):c.2027+2T>G GRCh37: Chr5:149264040 GRCh38: Chr5:149884477	PDE6A		Retinitis pigmentosa 43	Pathogenic (Jul 10, 2019)	criteria provided, single submitter
Select item 86686917.	NM_000440.3(PDE6A):c.2506+7G>A GRCh37: Chr5:149242675 GRCh38: Chr5:149863112	PDE6A		Retinal dystrophy, not provided, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Jul 9, 2022)	criteria provided, conflicting interpretations
Select item 86635218.	NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) GRCh37: Chr5:149274785 GRCh38: Chr5:149895222	PDE6A	H563Q	Retinal dystrophy, not provided, Retinitis pigmentosa 43	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86635019.	NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) GRCh37: Chr5:149262996 GRCh38: Chr5:149883433	PDE6A	V711I	Retinal dystrophy, not provided, Retinitis pigmentosa 43	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86602220.	NM_000440.3(PDE6A):c.1407+1G>C GRCh37: Chr5:149277925 GRCh38: Chr5:149898362	PDE6A		Retinal dystrophy, not provided, Retinitis pigmentosa 43	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86598521.	NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) GRCh37: Chr5:149245789 GRCh38: Chr5:149866226	PDE6A	E768*	not provided, Retinal dystrophy, Retinitis pigmentosa 43	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86580422.	NM_000440.3(PDE6A):c.999-2A>G GRCh37: Chr5:149286943 GRCh38: Chr5:149907380	PDE6A		Retinal dystrophy, not provided, Retinitis pigmentosa 43	Likely pathogenic (Oct 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85535123.	NM_000440.3(PDE6A):c.998+1G>A GRCh37: Chr5:149294505 GRCh38: Chr5:149914942	PDE6A		not provided, Retinitis pigmentosa	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84616624.	NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr) GRCh37: Chr5:149247713 GRCh38: Chr5:149868150	PDE6A	M715T	not provided, Retinitis pigmentosa 43	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84032225.	NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) GRCh37: Chr5:149263002 GRCh38: Chr5:149883439	PDE6A	E709K	Retinitis pigmentosa 43, Retinitis pigmentosa, not provided	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83613826.	NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs) GRCh37: Chr5:149240489-149240493 GRCh38: Chr5:149860926-149860930	PDE6A	G850fs	not provided, Retinitis pigmentosa 43	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81743527.	NM_000440.3(PDE6A):c.1097del (p.Asp366fs) GRCh37: Chr5:149283227 GRCh38: Chr5:149903664	PDE6A	D366fs	not provided, Retinitis pigmentosa 43	Likely pathogenic (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81306028.	NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) GRCh37: Chr5:149242806-149242808 GRCh38: Chr5:149863243-149863245	PDE6A	E794del	Retinitis pigmentosa 43, not specified, Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 81236829.	NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) GRCh37: Chr5:149264109 GRCh38: Chr5:149884546	PDE6A	Q654*	Retinitis pigmentosa 43	Pathogenic (May 26, 2020)	criteria provided, single submitter
Select item 81205630.	NM_000440.3(PDE6A):c.2369G>A (p.Arg790His) GRCh37: Chr5:149242819 GRCh38: Chr5:149863256	PDE6A	R790H	not provided, Retinitis pigmentosa 43	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81189531.	NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His) GRCh37: Chr5:149263029 GRCh38: Chr5:149883466	PDE6A	Y700H	Retinitis pigmentosa 43	Uncertain significance (Feb 15, 2019)	criteria provided, single submitter
Select item 81160632.	NM_000440.3(PDE6A):c.1927-21C>G GRCh37: Chr5:149264163 GRCh38: Chr5:149884600	PDE6A		Retinitis pigmentosa 43	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 44003033.	NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) GRCh37: Chr5:149279030 GRCh38: Chr5:149899467	PDE6A	V391M	not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43798434.	NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) GRCh37: Chr5:149310680 GRCh38: Chr5:149931117	PDE6A	R257*	Retinal dystrophy, Retinitis pigmentosa 43, not provided	Pathogenic/Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42535935.	NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) GRCh37: Chr5:149264094-149264095 GRCh38: Chr5:149884531-149884532	PDE6A	I659fs	not provided, Retinal dystrophy, Retinitis pigmentosa 43	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35200836.	NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) GRCh37: Chr5:149324153 GRCh38: Chr5:149944590	PDE6A		not provided, Retinitis pigmentosa 43, Retinitis pigmentosa	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35200637.	NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) GRCh37: Chr5:149323963 GRCh38: Chr5:149944400	PDE6A	D92N	not provided, Retinitis pigmentosa, Usher syndrome, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 35200538.	NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) GRCh37: Chr5:149323938 GRCh38: Chr5:149944375	PDE6A	R100Q	Usher syndrome, Retinitis pigmentosa, not provided, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 35199939.	NM_000440.3(PDE6A):c.498G>A (p.Val166=) GRCh37: Chr5:149314258 GRCh38: Chr5:149934695	PDE6A		not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 28504440.	NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) GRCh37: Chr5:149310665 GRCh38: Chr5:149931102	PDE6A	A262T	not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 23645041.	NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) GRCh37: Chr5:149323870 GRCh38: Chr5:149944307	PDE6A	D123Y	Retinal dystrophy, not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22511942.	NM_000440.3(PDE6A):c.1408-2A>G GRCh37: Chr5:149276341 GRCh38: Chr5:149896778	PDE6A		Retinitis pigmentosa 43	Pathogenic (Apr 7, 2016)	no assertion criteria provided
Select item 19546243.	NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) GRCh37: Chr5:149245756-149245759 GRCh38: Chr5:149866193-149866196	PDE6A	D778fs	not provided, Retinitis pigmentosa 43	Pathogenic/Likely pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19447344.	NM_000440.3(PDE6A):c.1926+1G>A GRCh37: Chr5:149264342 GRCh38: Chr5:149884779	PDE6A		not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19309945.	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) GRCh37: Chr5:149323933 GRCh38: Chr5:149944370	PDE6A	R102S	Retinal dystrophy, not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 16743146.	NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) GRCh37: Chr5:149274769 GRCh38: Chr5:149895206	PDE6A	Q569K	PDE6A-related condition, not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Oct 9, 2023)	criteria provided, conflicting interpretations
Select item 13863347.	NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) GRCh37: Chr5:149283238 GRCh38: Chr5:149903675	PDE6A		not provided, not specified, Retinitis pigmentosa, Retinitis pigmentosa 43	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 10055648.	NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) GRCh37: Chr5:149275993 GRCh38: Chr5:149896430	PDE6A	L516V	not provided, Retinitis pigmentosa 43, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 9301049.	NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) GRCh37: Chr5:149264106 GRCh38: Chr5:149884543	PDE6A	H655Y	not provided, Retinitis pigmentosa, Retinitis pigmentosa 43, not specified	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 2987450.	NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) GRCh37: Chr5:149263074 GRCh38: Chr5:149883511	PDE6A	V685M	Retinal dystrophy, not provided	Pathogenic (Oct 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1311251.	NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter) GRCh37: Chr5:149274791 GRCh38: Chr5:149895228	PDE6A	W561*	Retinitis pigmentosa 43	Likely pathogenic (Oct 26, 2021)	criteria provided, single submitter
Select item 1311152.	NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg) GRCh37: Chr5:149286908 GRCh38: Chr5:149907345	PDE6A	S344R	Retinitis pigmentosa 43	Pathogenic (Dec 1, 1995)	no assertion criteria provided
Select item 1311053.	NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) GRCh37: Chr5:149265917 GRCh38: Chr5:149886354	PDE6A	Y583*	not provided, Retinitis pigmentosa, Retinitis pigmentosa 43	Pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 53