ClinVar for MedGen (Select 904646) - ClinVar

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Items: 25

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11678341.	NM_007348.4(ATF6):c.1896A>G (p.Ser632=) GRCh37: Chr1:161928327 GRCh38: Chr1:161958537	ATF6		not provided, Achromatopsia 7	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11644052.	NM_007348.4(ATF6):c.309G>A (p.Ser103=) GRCh37: Chr1:161753841 GRCh38: Chr1:161784051	ATF6		not provided, Achromatopsia 7	Benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11644043.	NM_007348.4(ATF6):c.270T>C (p.Pro90=) GRCh37: Chr1:161753802 GRCh38: Chr1:161784012	ATF6		not provided, Achromatopsia 7	Benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11644034.	NM_007348.4(ATF6):c.105C>T (p.Leu35=) GRCh37: Chr1:161748056 GRCh38: Chr1:161778266	ATF6		not provided, Achromatopsia 7	Benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10317355.	NM_007348.4(ATF6):c.677C>A (p.Ala226Glu) GRCh37: Chr1:161762106 GRCh38: Chr1:161792316	ATF6	A226E	Achromatopsia 7	Uncertain significance (Nov 11, 2018)	criteria provided, single submitter
Select item 9779666.	NM_007348.4(ATF6):c.854A>G (p.Lys285Arg) GRCh37: Chr1:161772007 GRCh38: Chr1:161802217	ATF6	K285R	Achromatopsia 7	Likely pathogenic	no assertion criteria provided
Select item 9779657.	NM_007348.4(ATF6):c.3G>T (p.Met1Ile) GRCh37: Chr1:161736153 GRCh38: Chr1:161766363	ATF6	M1I	Achromatopsia 7	Pathogenic	no assertion criteria provided
Select item 9779648.	NM_007348.4(ATF6):c.950G>A (p.Arg317Gln) GRCh37: Chr1:161789463 GRCh38: Chr1:161819673	ATF6	R317Q	Achromatopsia 7	Likely pathogenic	no assertion criteria provided
Select item 8015729.	NM_007348.4(ATF6):c.1434-3T>A GRCh37: Chr1:161823011 GRCh38: Chr1:161853221	ATF6		Achromatopsia 7, not provided	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80157110.	NM_007348.4(ATF6):c.1191G>T (p.Met397Ile) GRCh37: Chr1:161816242 GRCh38: Chr1:161846452	ATF6	M397I	Achromatopsia 7	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80157011.	NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) GRCh37: Chr1:161816240-161816241 GRCh38: Chr1:161846450-161846451	ATF6	M397fs	Achromatopsia 7	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 80156912.	NM_007348.4(ATF6):c.709C>T (p.Gln237Ter) GRCh37: Chr1:161771862 GRCh38: Chr1:161802072	ATF6	Q237*	Achromatopsia 7, not provided	Pathogenic (Oct 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80156813.	NM_007348.4(ATF6):c.199A>G (p.Met67Val) GRCh37: Chr1:161751741 GRCh38: Chr1:161781951	ATF6	M67V	Achromatopsia 7, not provided	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80090714.	NM_007348.4(ATF6):c.511del (p.Ile171fs) GRCh37: Chr1:161761934 GRCh38: Chr1:161792144	ATF6	I171fs	Achromatopsia 7	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 59215215.	NM_007348.4(ATF6):c.1784del (p.Leu595fs) GRCh37: Chr1:161882149 GRCh38: Chr1:161912359	ATF6	L595fs	Achromatopsia 7	Likely pathogenic (Aug 29, 2018)	no assertion criteria provided
Select item 21730216.	NM_007348.3:c.355_356dupG	ATF6		Achromatopsia 7	Pathogenic	no assertion criteria provided
Select item 20910117.	NM_007348.4(ATF6):c.1110dup (p.Val371fs) GRCh37: Chr1:161790871-161790872 GRCh38: Chr1:161821081-161821082	ATF6	V371fs	Achromatopsia 7	Pathogenic (Jun 17, 2015)	criteria provided, single submitter
Select item 20910018.	NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) GRCh37: Chr1:161771947-161771948 GRCh38: Chr1:161802157-161802158	ATF6		Achromatopsia 7	Pathogenic (Jun 17, 2015)	criteria provided, single submitter
Select item 20909919.	NM_007348.4(ATF6):c.1533+1G>C GRCh37: Chr1:161823114 GRCh38: Chr1:161853324	ATF6		Achromatopsia 7	Pathogenic (Jun 17, 2015)	criteria provided, single submitter
Select item 20909820.	NM_007348.4(ATF6):c.1187+5G>C GRCh37: Chr1:161790956 GRCh38: Chr1:161821166	ATF6		Achromatopsia 7	Pathogenic (Jun 17, 2015)	criteria provided, single submitter
Select item 20909721.	NM_007348.4(ATF6):c.353del (p.Pro118fs) GRCh37: Chr1:161753884 GRCh38: Chr1:161784094	ATF6	P118fs	Achromatopsia 7	Pathogenic (Jun 17, 2015)	criteria provided, single submitter
Select item 20909622.	NM_007348.4(ATF6):c.82+5G>T GRCh37: Chr1:161736237 GRCh38: Chr1:161766447	ATF6		Achromatopsia 7, not provided	Pathogenic (Nov 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 20817623.	NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) GRCh37: Chr1:161833082 GRCh38: Chr1:161863292	ATF6	Y567N	Achromatopsia 7	Pathogenic (Jun 17, 2015)	criteria provided, single submitter
Select item 20817224.	NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) GRCh37: Chr1:161789483 GRCh38: Chr1:161819693	ATF6	R324C	not provided, ATF6-related condition, Achromatopsia 7	Pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20817125.	NM_007348.3(ATF6):c.355dup GRCh37: Chr1:161761196-161761197 GRCh38: Chr1:161791406-161791407	ATF6		Achromatopsia 7	Pathogenic (Sep 1, 2015)	no assertion criteria provided

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Items: 25