ClinVar for MedGen (Select 340413) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24391591.	NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter) GRCh37: Chr8:87656026 GRCh38: Chr8:86643798	CNGB3	Y377*	Achromatopsia 3	Likely pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 18055872.	NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro) GRCh37: Chr8:87591379 GRCh38: Chr8:86579151	CNGB3	L628P	Achromatopsia 3	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 17268943.	NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter) GRCh37: Chr8:87666269 GRCh38: Chr8:86654041	CNGB3	K292*	Achromatopsia 3	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268504.	NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs) GRCh37: Chr8:87755795-87755797 GRCh38: Chr8:86743567-86743569	CNGB3	N20fs	Achromatopsia 3	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267405.	NM_019098.5(CNGB3):c.969del (p.Phe323fs) GRCh37: Chr8:87660050 GRCh38: Chr8:86647822	CNGB3	F323fs	Achromatopsia 3	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17265526.	NM_019098.5(CNGB3):c.269del (p.Asn90fs) GRCh37: Chr8:87738828 GRCh38: Chr8:86726600	CNGB3	N90fs	Achromatopsia 3	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 17264777.	NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter) GRCh37: Chr8:87656050 GRCh38: Chr8:86643822	CNGB3	C369*	Achromatopsia 3	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 17261778.	NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter) GRCh37: Chr8:87623859 GRCh38: Chr8:86611631	CNGB3	L540*	Achromatopsia 3	Likely pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 17252819.	NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs) GRCh37: Chr8:87638292-87638293 GRCh38: Chr8:86626064-86626065	CNGB3	L499fs	Achromatopsia 3	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172502410.	NM_019098.5(CNGB3):c.1052del (p.Tyr351fs) GRCh37: Chr8:87656853 GRCh38: Chr8:86644625	CNGB3	Y351fs	Achromatopsia 3	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172454511.	NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs) GRCh37: Chr8:87591412-87591413 GRCh38: Chr8:86579184-86579185	CNGB3	L617fs	Achromatopsia 3	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172445612.	NM_019098.5(CNGB3):c.1405del (p.Tyr469fs) GRCh37: Chr8:87641222 GRCh38: Chr8:86628994	CNGB3	Y469fs	Achromatopsia 3	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172430213.	NM_019098.5(CNGB3):c.1019_1020del (p.His340fs) GRCh37: Chr8:87656885-87656886 GRCh38: Chr8:86644657-86644658	CNGB3	H340fs	Achromatopsia 3	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172427514.	NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs) GRCh37: Chr8:87656879-87656880 GRCh38: Chr8:86644651-86644652	CNGB3	E342fs	Achromatopsia 3	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 172421015.	NM_019098.5(CNGB3):c.893_897del (p.Thr298fs) GRCh37: Chr8:87666246-87666250 GRCh38: Chr8:86654018-86654022	CNGB3	T298fs	Achromatopsia 3	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 152613616.	NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) GRCh37: Chr8:87645086 GRCh38: Chr8:86632858	CNGB3	L405S	Achromatopsia 3	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 140176317.	NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) GRCh37: Chr8:87590973 GRCh38: Chr8:86578745	CNGB3	T683P	not provided, Inborn genetic diseases, Achromatopsia 3	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132209918.	NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs) GRCh37: Chr8:87683219-87683223 GRCh38: Chr8:86670991-86670995	CNGB3	K148fs	Achromatopsia 3	Pathogenic (Aug 11, 2020)	criteria provided, single submitter
Select item 118515519.	NM_019098.5(CNGB3):c.852+55C>T GRCh37: Chr8:87679098 GRCh38: Chr8:86666870	CNGB3		not provided, Achromatopsia 3	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118515420.	NM_019098.5(CNGB3):c.1481-145A>C GRCh37: Chr8:87638453 GRCh38: Chr8:86626225	CNGB3		Achromatopsia 3	Benign (Jul 10, 2021)	criteria provided, single submitter
Select item 117270721.	NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr) GRCh37: Chr8:87679304 GRCh38: Chr8:86667076	CNGB3	C234Y	Achromatopsia 3	Uncertain significance (May 21, 2021)	criteria provided, single submitter
Select item 107143022.	NM_019098.5(CNGB3):c.886_890del (p.Thr296fs) GRCh37: Chr8:87666253-87666257 GRCh38: Chr8:86654025-86654029	CNGB3	T296fs	not provided, Achromatopsia 3	Pathogenic/Likely pathogenic (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104815723.	NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) GRCh37: Chr8:87655989-87655990 GRCh38: Chr8:86643761-86643762	CNGB3	E390fs	Achromatopsia 3	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 99767724.	NM_019098.5(CNGB3):c.852+4010_903+1699dup GRCh37: Chr8:87664540-87664541 GRCh38: Chr8:86652312-86652313	CNGB3		Achromatopsia 3	Pathogenic	criteria provided, single submitter
Select item 99160225.	NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro) GRCh37: Chr8:87679325 GRCh38: Chr8:86667097	CNGB3	L227P	not provided, not specified, Achromatopsia 3	Uncertain significance (Aug 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98879726.	NM_019098.5(CNGB3):c.1178+5G>T GRCh37: Chr8:87655974 GRCh38: Chr8:86643746	CNGB3		Achromatopsia 3	Pathogenic	no assertion criteria provided
Select item 98879627.	NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs) GRCh37: Chr8:87683219-87683220 GRCh38: Chr8:86670991-86670992	CNGB3	K149fs	Achromatopsia 3	Pathogenic	no assertion criteria provided
Select item 97189328.	NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) GRCh37: Chr8:87588217 GRCh38: Chr8:86575989	CNGB3	K749E	Inborn genetic diseases, not provided, Achromatopsia 3	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96992429.	NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) GRCh37: Chr8:87616406 GRCh38: Chr8:86604178	CNGB3	H566Y	not provided, Achromatopsia 3	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91190030.	NM_019098.5(CNGB3):c.-1G>A GRCh37: Chr8:87755856 GRCh38: Chr8:86743628	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91179431.	NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg) GRCh37: Chr8:87660030 GRCh38: Chr8:86647802	CNGB3	K330R	Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91166032.	NM_019098.5(CNGB3):c.*108C>T GRCh37: Chr8:87587924 GRCh38: Chr8:86575696	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91160233.	NM_019098.5(CNGB3):c.*737T>C GRCh37: Chr8:87587295 GRCh38: Chr8:86575067	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91153634.	NM_019098.5(CNGB3):c.*1476T>A GRCh37: Chr8:87586556 GRCh38: Chr8:86574328	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91061635.	NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn) GRCh37: Chr8:87679328 GRCh38: Chr8:86667100	CNGB3	T226N	not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91049436.	NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) GRCh37: Chr8:87590933 GRCh38: Chr8:86578705	CNGB3	R696Q	Inborn genetic diseases, not provided, Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Conflicting interpretations of pathogenicity (Aug 21, 2023)	criteria provided, conflicting interpretations
Select item 91043737.	NM_019098.5(CNGB3):c.*183A>C GRCh37: Chr8:87587849 GRCh38: Chr8:86575621	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91043638.	NM_019098.5(CNGB3):c.*272G>T GRCh37: Chr8:87587760 GRCh38: Chr8:86575532	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 91043539.	NM_019098.5(CNGB3):c.*291T>A GRCh37: Chr8:87587741 GRCh38: Chr8:86575513	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91038940.	NM_019098.5(CNGB3):c.*800C>G GRCh37: Chr8:87587232 GRCh38: Chr8:86575004	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91038841.	NM_019098.5(CNGB3):c.*915G>C GRCh37: Chr8:87587117 GRCh38: Chr8:86574889	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91038742.	NM_019098.5(CNGB3):c.*997A>G GRCh37: Chr8:87587035 GRCh38: Chr8:86574807	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Benign/Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91032443.	NM_019098.4(CNGB3):c.*1654C>T GRCh37: Chr8:87586378 GRCh38: Chr8:86574150	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90975144.	NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu) GRCh37: Chr8:87683278 GRCh38: Chr8:86671050	CNGB3	D129E	Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90968745.	NM_019098.5(CNGB3):c.721G>A (p.Val241Ile) GRCh37: Chr8:87679284 GRCh38: Chr8:86667056	CNGB3	V241I	Severe early-childhood-onset retinal dystrophy, not provided, Achromatopsia 3	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 90963046.	NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) GRCh37: Chr8:87638274 GRCh38: Chr8:86626046	CNGB3		not provided, Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 90956847.	NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe) GRCh37: Chr8:87588112 GRCh38: Chr8:86575884	CNGB3	L784F	Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90950248.	NM_019098.5(CNGB3):c.*435G>A GRCh37: Chr8:87587597 GRCh38: Chr8:86575369	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90944149.	NM_019098.5(CNGB3):c.*1143T>C GRCh37: Chr8:87586889 GRCh38: Chr8:86574661	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90944050.	NM_019098.5(CNGB3):c.*1218C>T GRCh37: Chr8:87586814 GRCh38: Chr8:86574586	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90936351.	NM_019098.4(CNGB3):c.*1705A>C GRCh37: Chr8:87586327 GRCh38: Chr8:86574099	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90936252.	NM_019098.4(CNGB3):c.*1733T>C GRCh37: Chr8:87586299 GRCh38: Chr8:86574071	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90889053.	NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr) GRCh37: Chr8:87683205 GRCh38: Chr8:86670977	CNGB3	D154Y	Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90888954.	NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu) GRCh37: Chr8:87683192 GRCh38: Chr8:86670964	CNGB3	P158L	Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90877155.	NM_019098.5(CNGB3):c.1773A>G (p.Gly591=) GRCh37: Chr8:87616329 GRCh38: Chr8:86604101	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90871256.	NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr) GRCh37: Chr8:87588043 GRCh38: Chr8:86575815	CNGB3	A807T	Severe early-childhood-onset retinal dystrophy, Achromatopsia 3, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90871157.	NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) GRCh37: Chr8:87588039 GRCh38: Chr8:86575811	CNGB3	K808T	Severe early-childhood-onset retinal dystrophy, Achromatopsia 3, Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90871058.	NM_019098.5(CNGB3):c.*29G>T GRCh37: Chr8:87588003 GRCh38: Chr8:86575775	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90864959.	NM_019098.5(CNGB3):c.*499G>C GRCh37: Chr8:87587533 GRCh38: Chr8:86575305	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90864860.	NM_019098.5(CNGB3):c.*570T>C GRCh37: Chr8:87587462 GRCh38: Chr8:86575234	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90864761.	NM_019098.5(CNGB3):c.*649A>G GRCh37: Chr8:87587383 GRCh38: Chr8:86575155	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90858262.	NM_019098.5(CNGB3):c.*1431G>A GRCh37: Chr8:87586601 GRCh38: Chr8:86574373	CNGB3		Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85316263.	NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn) GRCh37: Chr8:87751926 GRCh38: Chr8:86739698	CNGB3	K56N	not provided, Severe early-childhood-onset retinal dystrophy, Achromatopsia 3	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84785864.	NM_019098.5(CNGB3):c.595del (p.Glu199fs) GRCh37: Chr8:87680295 GRCh38: Chr8:86668067	CNGB3	E199fs	not provided, Achromatopsia 3	Pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81078165.	NM_019098.5(CNGB3):c.1781+1G>T GRCh37: Chr8:87616320 GRCh38: Chr8:86604092	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Pathogenic (Sep 20, 2019)	criteria provided, single submitter
Select item 80241666.	NM_019098.5(CNGB3):c.852+1G>T GRCh37: Chr8:87679152 GRCh38: Chr8:86666924	CNGB3		not provided, Achromatopsia 3	Pathogenic/Likely pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79061067.	NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) GRCh37: Chr8:87623852 GRCh38: Chr8:86611624	CNGB3		Achromatopsia 3, Severe early-childhood-onset retinal dystrophy, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78806168.	NM_019098.5(CNGB3):c.1178+9T>C GRCh37: Chr8:87655970 GRCh38: Chr8:86643742	CNGB3		not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 76360969.	NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) GRCh37: Chr8:87641280 GRCh38: Chr8:86629052	CNGB3		not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 76341670.	NM_019098.5(CNGB3):c.720C>T (p.Leu240=) GRCh37: Chr8:87679285 GRCh38: Chr8:86667057	CNGB3		not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 75611071.	NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) GRCh37: Chr8:87588303 GRCh38: Chr8:86576075	CNGB3	Q720R	not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 74949672.	NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) GRCh37: Chr8:87641259 GRCh38: Chr8:86629031	CNGB3		not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 73104573.	NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) GRCh37: Chr8:87738778 GRCh38: Chr8:86726550	CNGB3	G107R	Achromatopsia 3, Severe early-childhood-onset retinal dystrophy, not provided	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 66606174.	NM_019098.5(CNGB3):c.2085del (p.Lys695fs) GRCh37: Chr8:87590935 GRCh38: Chr8:86578707	CNGB3	K695fs	not provided, Achromatopsia 3	Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64708075.	NM_019098.5(CNGB3):c.1929-1G>A GRCh37: Chr8:87591092 GRCh38: Chr8:86578864	CNGB3		not provided, Achromatopsia 3	Likely pathogenic (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63582376.	NM_019098.5(CNGB3):c.1663-2137C>T GRCh37: Chr8:87618576 GRCh38: Chr8:86606348	CNGB3		Achromatopsia, Achromatopsia 3, not provided	Pathogenic/Likely pathogenic (Mar 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 63582277.	NM_019098.5(CNGB3):c.1663-1205G>A GRCh37: Chr8:87617644 GRCh38: Chr8:86605416	CNGB3		Achromatopsia	Pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 62433678.	NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) GRCh37: Chr8:87588263-87588283 GRCh38: Chr8:86576035-86576055	CNGB3		not provided, Achromatopsia 3	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 62433579.	NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) GRCh37: Chr8:87588147-87588149 GRCh38: Chr8:86575919-86575921	CNGB3	R772del	not provided, Achromatopsia 3	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 59234380.	NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) GRCh37: Chr8:87591364 GRCh38: Chr8:86579136	CNGB3	D633G	not provided, Achromatopsia 3, Severe early-childhood-onset retinal dystrophy	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 55718681.	NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) GRCh37: Chr8:87616327-87616328 GRCh38: Chr8:86604099-86604100	CNGB3	E592fs	Achromatopsia 3	Likely pathogenic (Mar 12, 2018)	criteria provided, single submitter
Select item 55714282.	NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter) GRCh37: Chr8:87591012 GRCh38: Chr8:86578784	CNGB3	E670*	Achromatopsia 3	Likely pathogenic (Mar 5, 2018)	criteria provided, single submitter
Select item 55697883.	NM_019098.5(CNGB3):c.1578+2C>G GRCh37: Chr8:87638209 GRCh38: Chr8:86625981	CNGB3		Achromatopsia 3	Likely pathogenic (Mar 1, 2018)	criteria provided, single submitter
Select item 55687984.	NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs) GRCh37: Chr8:87683218-87683220 GRCh38: Chr8:86670990-86670992	CNGB3	K149fs	Achromatopsia 3	Likely pathogenic (Feb 28, 2018)	criteria provided, single submitter
Select item 55563285.	NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) GRCh37: Chr8:87588157-87588158 GRCh38: Chr8:86575929-86575930	CNGB3	S769fs	Achromatopsia 3, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55499386.	NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter) GRCh37: Chr8:87590919 GRCh38: Chr8:86578691	CNGB3	Q701*	Achromatopsia 3	Uncertain significance (Nov 10, 2017)	criteria provided, single submitter
Select item 55497087.	NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) GRCh37: Chr8:87588079 GRCh38: Chr8:86575851	CNGB3	G795R	not provided, Achromatopsia 3	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55483188.	NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) GRCh37: Chr8:87616430 GRCh38: Chr8:86604202	CNGB3	G558C	not provided, Achromatopsia 3	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55313989.	NM_019098.5(CNGB3):c.1481-2A>C GRCh37: Chr8:87638310 GRCh38: Chr8:86626082	CNGB3		Achromatopsia 3	Likely pathogenic (Aug 3, 2017)	criteria provided, single submitter
Select item 50355890.	NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) GRCh37: Chr8:87591479 GRCh38: Chr8:86579251	CNGB3	L595F	Achromatopsia, Achromatopsia 3	Uncertain significance (Mar 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 48743991.	NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) GRCh37: Chr8:87590934 GRCh38: Chr8:86578706	CNGB3	R696*	Achromatopsia 3, not provided	Conflicting interpretations of pathogenicity (May 3, 2023)	criteria provided, conflicting interpretations
Select item 43804292.	NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) GRCh37: Chr8:87591452 GRCh38: Chr8:86579224	CNGB3	R604*	not provided, Achromatopsia 3	Pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43067393.	NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770] GRCh38: Chr8:86711345-86711346	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 43067294.	NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978] GRCh38: Chr8:86688947-86688948	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 42772195.	NM_019098.5(CNGB3):c.1782-3723_2103+739del GRCh37: Chr8:87590178-87595203 GRCh38: Chr8:86577950-86582975	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 42772096.	NM_019098.5(CNGB3):c.1663-2660_1781+5516del GRCh37: Chr8:87610805-87619099 GRCh38: Chr8:86598577-86606871	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 42771997.	NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 42771898.	NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466] GRCh38: Chr8:86587460-86650711	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 42771799.	NM_019098.4(CNGB3):c.852+4013_903+1698dup GRCh38: Chr8:86652314-86662912	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided
Select item 427716100.	NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del	CNGB3		Achromatopsia 3	Pathogenic (Mar 27, 2017)	no assertion criteria provided

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