ClinVar for MedGen (Select 330669) - ClinVar

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Items: 53

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 19060211.	NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala) GRCh37: Chr1:110152684 GRCh38: Chr1:109610062	GNAT2	D94A	Inborn genetic diseases, not provided, Achromatopsia 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10585782.	NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr) GRCh37: Chr1:110146010 GRCh38: Chr1:109603388	GNAT2	I344T	not provided, Inborn genetic diseases, Achromatopsia 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9422993.	NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) GRCh37: Chr1:110145984 GRCh38: Chr1:109603362	GNAT2	L353F	not provided, Inborn genetic diseases, Achromatopsia 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9415934.	NM_001377295.2(GNAT2):c.818T>A (p.Leu273His) GRCh37: Chr1:110146629 GRCh38: Chr1:109604007	GNAT2	L273H	not provided, Inborn genetic diseases, Achromatopsia 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8765905.	NM_001377295.2(GNAT2):c.591-9T>C GRCh37: Chr1:110148730 GRCh38: Chr1:109606108	GNAT2		Achromatopsia 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8765896.	NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) GRCh37: Chr1:110148597 GRCh38: Chr1:109605975	GNAT2, LOC129388577	E239K	Achromatopsia 4, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8765887.	NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) GRCh37: Chr1:110146602 GRCh38: Chr1:109603980	GNAT2	H282P	not provided, Achromatopsia 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8755958.	NM_001377295.2(GNAT2):c.*50G>C GRCh37: Chr1:110145926 GRCh38: Chr1:109603304	GNAT2		Achromatopsia 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8755949.	NM_001377295.2(GNAT2):c.*102C>A GRCh37: Chr1:110145874 GRCh38: Chr1:109603252	GNAT2		Achromatopsia 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87470110.	NM_001377295.2(GNAT2):c.-53-76A>G GRCh37: Chr1:110155621 GRCh38: Chr1:109612999	GNAT2		Achromatopsia 4	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87470011.	NM_001377295.2(GNAT2):c.213T>G (p.Ala71=) GRCh37: Chr1:110152752 GRCh38: Chr1:109610130	GNAT2		not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 87374412.	NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) GRCh37: Chr1:110152722 GRCh38: Chr1:109610100	GNAT2	I81M	Achromatopsia 4, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87374313.	NM_001377295.2(GNAT2):c.246G>A (p.Leu82=) GRCh37: Chr1:110152719 GRCh38: Chr1:109610097	GNAT2		not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 87374214.	NM_001377295.2(GNAT2):c.461+10A>T GRCh37: Chr1:110151243 GRCh38: Chr1:109608621	GNAT2		not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 81211415.	NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) GRCh37: Chr1:110148707 GRCh38: Chr1:109606085	GNAT2, LOC129388577	G202E	Achromatopsia 4	Pathogenic (Feb 1, 2019)	criteria provided, single submitter
Select item 62328716.	NM_001377295.2(GNAT2):c.955del (p.Ile319fs) GRCh37: Chr1:110146086 GRCh38: Chr1:109603464	GNAT2	I319fs	Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62328617.	NM_001377295.2(GNAT2):c.943G>A (p.Asp315Asn) GRCh37: Chr1:110146098 GRCh38: Chr1:109603476	GNAT2	D315N	Achromatopsia 4	Uncertain significance (Jun 12, 2018)	no assertion criteria provided
Select item 62328518.	NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) GRCh37: Chr1:110146104 GRCh38: Chr1:109603482	GNAT2	R313*	Achromatopsia 4	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 62328419.	NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His) GRCh37: Chr1:110146155 GRCh38: Chr1:109603533	GNAT2	Y296H	not provided, Cone dystrophy	Conflicting interpretations of pathogenicity (Jan 28, 2022)	criteria provided, conflicting interpretations
Select item 62328320.	NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del) GRCh37: Chr1:110146634-110146636 GRCh38: Chr1:109604012-109604014	GNAT2	K271del	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 62328221.	NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs) GRCh37: Chr1:110146640-110146641 GRCh38: Chr1:109604018-109604019	GNAT2	K270fs	Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62328122.	NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) GRCh37: Chr1:110146723 GRCh38: Chr1:109604101	GNAT2	R242C	not provided, Achromatopsia 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62328023.	NM_001377295.2(GNAT2):c.720+2T>C GRCh37: Chr1:110148590 GRCh38: Chr1:109605968	LOC129388577, GNAT2		Retinal dystrophy	Likely pathogenic (Nov 23, 2018)	criteria provided, single submitter
Select item 62327924.	NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr) GRCh37: Chr1:110148689 GRCh38: Chr1:109606067	GNAT2, LOC129388577	R208T	not provided	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 62327825.	NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val) GRCh37: Chr1:110148692 GRCh38: Chr1:109606070	GNAT2, LOC129388577	E207V	Cone dystrophy	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 62327726.	NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) GRCh37: Chr1:110148719 GRCh38: Chr1:109606097	GNAT2	M198K	Achromatopsia 4	Uncertain significance (Jun 12, 2018)	no assertion criteria provided
Select item 62327627.	NM_001377295.2(GNAT2):c.591-2A>C GRCh37: Chr1:110148723 GRCh38: Chr1:109606101	GNAT2		Achromatopsia	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 62327528.	NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer) GRCh37: Chr1:110149016-110149017 GRCh38: Chr1:109606394-109606395	GNAT2		Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62327429.	NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter) GRCh37: Chr1:110151401 GRCh38: Chr1:109608779	GNAT2	R105*	Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62327330.	NM_001377295.2(GNAT2):c.303+365_461+974del GRCh37: Chr1:110150279-110152297 GRCh38: Chr1:109607657-109609675	GNAT2		Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62327231.	NM_001377295.2(GNAT2):c.303+365_461+974dup GRCh37: Chr1:110150278-110150279 GRCh38: Chr1:109607656-109607657	GNAT2		Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62327132.	NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) GRCh37: Chr1:110152674-110152680 GRCh38: Chr1:109610052-109610058	GNAT2	A96fs	Achromatopsia 4	Pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62327033.	NM_001377295.2(GNAT2):c.139A>G (p.Ser47Gly) GRCh37: Chr1:110153109 GRCh38: Chr1:109610487	GNAT2	S47G	Achromatopsia 4	Likely pathogenic (Jun 12, 2018)	no assertion criteria provided
Select item 62326934.	NM_001377295.2(GNAT2):c.107T>G (p.Leu36Arg) GRCh37: Chr1:110155386 GRCh38: Chr1:109612764	GNAT2	L36R	not provided	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 52277235.	NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) GRCh37: Chr1:110149039 GRCh38: Chr1:109606417	GNAT2	R161*	not provided, Achromatopsia 4	Pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29172636.	NM_001377295.2(GNAT2):c.-53-78G>A GRCh37: Chr1:110155623 GRCh38: Chr1:109613001	GNAT2		Achromatopsia 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29172537.	NM_001377295.2(GNAT2):c.-53-35C>G GRCh37: Chr1:110155580 GRCh38: Chr1:109612958	GNAT2		Achromatopsia 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29172438.	NM_001377295.2(GNAT2):c.14C>T (p.Ala5Val) GRCh37: Chr1:110155479 GRCh38: Chr1:109612857	GNAT2	A5V	not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 29172339.	NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln) GRCh37: Chr1:110152708 GRCh38: Chr1:109610086	GNAT2	R86Q	Achromatopsia 4, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 29172240.	NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) GRCh37: Chr1:110151345 GRCh38: Chr1:109608723	GNAT2		not provided, Achromatopsia 4	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29172141.	NM_001377295.2(GNAT2):c.427G>A (p.Ala143Thr) GRCh37: Chr1:110151287 GRCh38: Chr1:109608665	GNAT2	A143T	not provided, Achromatopsia 4, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 29172042.	NM_001377295.2(GNAT2):c.609G>T (p.Gly203=) GRCh37: Chr1:110148703 GRCh38: Chr1:109606081	GNAT2, LOC129388577		not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 29171943.	NM_001377295.2(GNAT2):c.672T>C (p.Cys224=) GRCh37: Chr1:110148640 GRCh38: Chr1:109606018	GNAT2, LOC129388577		Achromatopsia 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29171844.	NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe) GRCh37: Chr1:110146113 GRCh38: Chr1:109603491	GNAT2	L310F	not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 25974445.	NM_001377295.2(GNAT2):c.546G>A (p.Thr182=) GRCh37: Chr1:110148974 GRCh38: Chr1:109606352	GNAT2		not specified, not provided, Achromatopsia 4	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25974346.	NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile) GRCh37: Chr1:110151395 GRCh38: Chr1:109608773	GNAT2	L107I	Achromatopsia 4, not specified, not provided	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25974247.	NM_001377295.2(GNAT2):c.-32A>G GRCh37: Chr1:110155524 GRCh38: Chr1:109612902	GNAT2		not specified, Achromatopsia 4	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19881848.	NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) GRCh37: Chr1:110146108 GRCh38: Chr1:109603486	GNAT2		not specified, not provided, Achromatopsia 4	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 19725149.	NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) GRCh37: Chr1:110151344 GRCh38: Chr1:109608722	GNAT2	V124M	not specified, not provided, Achromatopsia 4	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19524150.	NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) GRCh37: Chr1:110153101 GRCh38: Chr1:109610479	GNAT2		not provided, not specified, Achromatopsia 4	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1592551.	NM_001377295.2(GNAT2):c.461+24G>A GRCh37: Chr1:110151229 GRCh38: Chr1:109608607	GNAT2		Achromatopsia 4	Conflicting interpretations of pathogenicity (Jun 12, 2018)	no assertion criteria provided
Select item 1592352.	NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs) GRCh37: Chr1:110146604-110146605 GRCh38: Chr1:109603982-109603983	GNAT2	H282fs	Achromatopsia 4	Pathogenic (Sep 1, 2002)	no assertion criteria provided
Select item 1592253.	NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter) GRCh37: Chr1:110152730 GRCh38: Chr1:109610108	GNAT2	Q79*	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter

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Items: 53