ATF6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 977965	NM_007348.4(ATF6):c.3G>T (p.Met1Ile)	ATF6 (M1I)	Single nucleotide variant (missense variant +1 more)	Achromatopsia 7	GPathogenic
Select item 1714822	NM_007348.4(ATF6):c.4G>C (p.Gly2Arg)	ATF6 (G2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457758	NM_007348.4(ATF6):c.7G>T (p.Glu3Ter)	ATF6 (E3*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1022959	NM_007348.4(ATF6):c.13G>A (p.Ala5Thr)	ATF6 (A5T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574426	NM_007348.4(ATF6):c.15T>C (p.Ala5=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135972	NM_007348.4(ATF6):c.17G>C (p.Gly6Ala)	ATF6 (G6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 859586	NM_007348.4(ATF6):c.17G>T (p.Gly6Val)	ATF6 (G6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2878394	NM_007348.4(ATF6):c.21T>G (p.Val7=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084844	NM_007348.4(ATF6):c.21T>C (p.Val7=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 964121	NM_007348.4(ATF6):c.27C>T (p.Gly9=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897211	NM_007348.4(ATF6):c.33G>A (p.Met11Ile)	ATF6 (M11I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522063	NM_007348.4(ATF6):c.40C>T (p.Pro14Ser)	ATF6 (P14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951902	NM_007348.4(ATF6):c.45dup (p.Ser16Ter)	ATF6 (S16*)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1478046	NM_007348.4(ATF6):c.41C>T (p.Pro14Leu)	ATF6 (P14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056938	NM_007348.4(ATF6):c.41C>A (p.Pro14His)	ATF6 (P14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730055	NM_007348.4(ATF6):c.47G>T (p.Ser16Ile)	ATF6 (S16I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1170814	NM_007348.4(ATF6):c.59T>C (p.Phe20Ser)	ATF6 (F20S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1982183	NM_007348.4(ATF6):c.61C>T (p.His21Tyr)	ATF6 (H21Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1717663	NM_007348.4(ATF6):c.62A>G (p.His21Arg)	ATF6 (H21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594470	NM_007348.4(ATF6):c.66G>A (p.Arg22=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971245	NM_007348.4(ATF6):c.67C>T (p.Leu23=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1006800	NM_007348.4(ATF6):c.77A>G (p.Asp26Gly)	ATF6 (D26G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500917	NM_007348.4(ATF6):c.82+1G>T	ATF6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1018425	NM_007348.4(ATF6):c.82+5G>A	ATF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 209096	NM_007348.4(ATF6):c.82+5G>T	ATF6	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1629297	NM_007348.4(ATF6):c.83-19T>C	ATF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2831748	NM_007348.4(ATF6):c.83-12C>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569945	NM_007348.4(ATF6):c.83-9T>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759000	NM_007348.4(ATF6):c.83-1G>T	ATF6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2134836	NM_007348.4(ATF6):c.88G>A (p.Ala30Thr)	ATF6 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922769	NM_007348.4(ATF6):c.99T>C (p.Ala33=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164403	NM_007348.4(ATF6):c.105C>T (p.Leu35=)	ATF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2058072	NM_007348.4(ATF6):c.106G>A (p.Gly36Ser)	ATF6 (G36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559139	NM_007348.4(ATF6):c.123T>C (p.Thr41=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1134397	NM_007348.4(ATF6):c.136T>C (p.Leu46=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939125	NM_007348.4(ATF6):c.137T>C (p.Leu46Ser)	ATF6 (L46S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 939217	NM_007348.4(ATF6):c.149A>G (p.Asn50Ser)	ATF6 (N50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902624	NM_007348.4(ATF6):c.155C>T (p.Thr52Met)	ATF6 (T52M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1089892	NM_007348.4(ATF6):c.156G>A (p.Thr52=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014752	NM_007348.4(ATF6):c.158A>G (p.Tyr53Cys)	ATF6 (Y53C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370641	NM_007348.4(ATF6):c.159+4del	ATF6	Deletion (intron variant)	not provided	GUncertain significance
Select item 1159728	NM_007348.4(ATF6):c.159+12C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168679	NM_007348.4(ATF6):c.159+14A>G	ATF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1540565	NM_007348.4(ATF6):c.159+16G>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537832	NM_007348.4(ATF6):c.159+16_159+17delinsAA	ATF6	Indel (intron variant)	not provided	GLikely benign
Select item 1558593	NM_007348.4(ATF6):c.160-18C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496606	NM_007348.4(ATF6):c.160-8A>G	ATF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 505015	NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs)	ATF6	Duplication	Achromatopsia	GPathogenic
Select item 3007374	NM_007348.4(ATF6):c.160-1G>A	ATF6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1489072	NM_007348.4(ATF6):c.199A>T (p.Met67Leu)	ATF6 (M67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801568	NM_007348.4(ATF6):c.199A>G (p.Met67Val)	ATF6 (M67V)	Single nucleotide variant (missense variant)	Achromatopsia 7 +1 more	GBenign
Select item 2700662	NM_007348.4(ATF6):c.206G>A (p.Trp69Ter)	ATF6 (W69*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1976378	NM_007348.4(ATF6):c.219T>C (p.Ile73=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002232	NM_007348.4(ATF6):c.222G>A (p.Trp74Ter)	ATF6 (W74*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 863445	NM_007348.4(ATF6):c.237A>G (p.Gln79=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794836	NM_007348.4(ATF6):c.243T>C (p.Cys81=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 935774	NM_007348.4(ATF6):c.245C>T (p.Thr82Ile)	ATF6 (T82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462336	NM_007348.4(ATF6):c.247+6T>C	ATF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2825553	NM_007348.4(ATF6):c.247+11G>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546901	NM_007348.4(ATF6):c.247+13T>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827426	NM_007348.4(ATF6):c.247+15C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580202	NM_007348.4(ATF6):c.248-20C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550800	NM_007348.4(ATF6):c.248-14T>G	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903959	NM_007348.4(ATF6):c.248-11A>G	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727701	NM_007348.4(ATF6):c.248-9G>A	ATF6	Single nucleotide variant (intron variant)	ATF6-related disorder +1 more	GLikely benign
Select item 1494786	NM_007348.4(ATF6):c.257T>C (p.Ile86Thr)	ATF6 (I86T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502624	NM_007348.4(ATF6):c.269C>A (p.Pro90His)	ATF6 (P90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164404	NM_007348.4(ATF6):c.270T>C (p.Pro90=)	ATF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1931064	NM_007348.4(ATF6):c.276A>G (p.Pro92=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490327	NM_007348.4(ATF6):c.281C>G (p.Ser94Cys)	ATF6 (S94C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966916	NM_007348.4(ATF6):c.289T>C (p.Ser97Pro)	ATF6 (S97P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653015	NM_007348.4(ATF6):c.300T>C (p.Tyr100=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017893	NM_007348.4(ATF6):c.303A>C (p.Ser101=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007580	NM_007348.4(ATF6):c.308C>T (p.Ser103Leu)	ATF6 (S103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164405	NM_007348.4(ATF6):c.309G>A (p.Ser103=)	ATF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 849785	NM_007348.4(ATF6):c.316C>T (p.Arg106Trp)	ATF6 (R106W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519692	NM_007348.4(ATF6):c.317G>C (p.Arg106Pro)	ATF6 (R106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629311	NM_007348.4(ATF6):c.321A>G (p.Ser107=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839000	NM_007348.4(ATF6):c.326A>G (p.Asp109Gly)	ATF6 (D109G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568351	NM_007348.4(ATF6):c.333T>C (p.Tyr111=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004684	NM_007348.4(ATF6):c.347A>G (p.His116Arg)	ATF6 (H116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008018	NM_007348.4(ATF6):c.348T>C (p.His116=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 209097	NM_007348.4(ATF6):c.353del (p.Pro118fs)	ATF6 (P118fs)	Deletion (frameshift variant)	Achromatopsia 7	GPathogenic
Select item 1607163	NM_007348.4(ATF6):c.354+12del	ATF6	Deletion (intron variant)	not provided	GLikely benign
Select item 2800173	NM_007348.4(ATF6):c.354+15T>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910839	NM_007348.4(ATF6):c.355-13T>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141062	NM_007348.4(ATF6):c.355-7G>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814751	NM_007348.4(ATF6):c.355-4A>G	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 846485	NM_007348.4(ATF6):c.355-3C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 208171	NM_007348.3(ATF6):c.355dup	ATF6	Duplication	Achromatopsia 7	GPathogenic
Select item 774159	NM_007348.4(ATF6):c.360G>A (p.Glu120=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2005317	NM_007348.4(ATF6):c.364G>A (p.Asp122Asn)	ATF6 (D122N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975704	NM_007348.4(ATF6):c.364G>T (p.Asp122Tyr)	ATF6 (D122Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518484	NM_007348.4(ATF6):c.367T>G (p.Leu123Val)	ATF6 (L123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327415	NM_007348.4(ATF6):c.376A>G (p.Ser126Gly)	ATF6 (S126G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1135286	NM_007348.4(ATF6):c.384G>A (p.Gln128=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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