ClinVar for Gene (Select 22926) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 452

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377706	NM_007348.4(ATF6):c.780_784del (p.Gly261fs)	ATF6 (G261fs)	Deletion (frameshift variant)	Achromatopsia 7	GLikely pathogenic
Select item 3363213	NM_007348.4(ATF6):c.1690_1691dup (p.Asp564fs)	ATF6 (D563fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3338252	NM_007348.4(ATF6):c.1605-154G>A	ATF6	Single nucleotide variant (intron variant)	Achromatopsia 7	GBenign
Select item 3320518	NM_007348.4(ATF6):c.862G>A (p.Val288Met)	ATF6 (V288M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320508	NM_007348.4(ATF6):c.1297A>G (p.Ile433Val)	ATF6 (I433V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320487	NM_007348.4(ATF6):c.1864G>A (p.Asp622Asn)	ATF6 (D621N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220935	NM_007348.4(ATF6):c.1805-2A>C	ATF6	Single nucleotide variant (splice acceptor variant)	Achromatopsia 7	GLikely pathogenic
Select item 3130811	NM_007348.4(ATF6):c.978G>T (p.Lys326Asn)	ATF6 (K326N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130808	NM_007348.4(ATF6):c.565G>C (p.Ala189Pro)	ATF6 (A189P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130807	NM_007348.4(ATF6):c.409G>A (p.Glu137Lys)	ATF6 (E137K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130805	NM_007348.4(ATF6):c.1825G>T (p.Asp609Tyr)	ATF6 (D609Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130804	NM_007348.4(ATF6):c.1565T>G (p.Leu522Arg)	ATF6 (L522R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130803	NM_007348.4(ATF6):c.1547A>G (p.Gln516Arg)	ATF6 (Q516R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130802	NM_007348.4(ATF6):c.1232C>T (p.Pro411Leu)	ATF6 (P411L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064177	NM_007348.4(ATF6):c.949C>T (p.Arg317Ter)	ATF6 (R317*)	Single nucleotide variant (nonsense)	Achromatopsia 7	GPathogenic
Select item 3064150	NM_007348.4(ATF6):c.1720-2A>T	ATF6	Single nucleotide variant (splice acceptor variant)	Achromatopsia 7	GLikely pathogenic
Select item 3054409	NM_007348.4(ATF6):c.834G>A (p.Ala278=)	ATF6	Single nucleotide variant (synonymous variant)	ATF6-related disorder	GLikely benign
Select item 3044887	NM_007348.4(ATF6):c.1534-12_1534-11del	ATF6	Deletion (intron variant)	ATF6-related disorder	GLikely benign
Select item 3008018	NM_007348.4(ATF6):c.348T>C (p.His116=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007374	NM_007348.4(ATF6):c.160-1G>A	ATF6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2992152	NM_007348.4(ATF6):c.840C>T (p.Ser280=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988540	NM_007348.4(ATF6):c.1188-15G>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982612	NM_007348.4(ATF6):c.1830C>T (p.Tyr610=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959328	NM_007348.4(ATF6):c.1714C>T (p.Arg572Ter)	ATF6 (R572* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2919008	NM_007348.4(ATF6):c.1035C>T (p.Asn345=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881655	NM_007348.4(ATF6):c.1096-12C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878394	NM_007348.4(ATF6):c.21T>G (p.Val7=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863567	NM_007348.4(ATF6):c.1156del (p.Ala386fs)	ATF6 (A386fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2850341	NM_007348.4(ATF6):c.1164A>T (p.Ile388=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847340	NM_007348.4(ATF6):c.1187+16T>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845171	NM_007348.4(ATF6):c.1381del (p.Tyr461fs)	ATF6 (Y461fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2831748	NM_007348.4(ATF6):c.83-12C>A	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 2825553	NM_007348.4(ATF6):c.247+11G>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823268	NM_007348.4(ATF6):c.1647C>T (p.Pro549=)	ATF6	Single nucleotide variant (synonymous 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 2812448	NM_007348.4(ATF6):c.1096-19A>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805871	NM_007348.4(ATF6):c.1605-16A>C	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802599	NM_007348.4(ATF6):c.795C>G (p.Leu265=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802380	NM_007348.4(ATF6):c.1746C>A (p.Thr582=)	ATF6	Single nucleotide variant (synonymous 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 2794836	NM_007348.4(ATF6):c.243T>C (p.Cys81=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786150	NM_007348.4(ATF6):c.810G>C (p.Val270=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784229	NM_007348.4(ATF6):c.732A>G (p.Gln244=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766979	NM_007348.4(ATF6):c.1113C>T (p.Val371=)	ATF6	Single nucleotide variant (synonymous 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 2747441	NM_007348.4(ATF6):c.1479A>G (p.Glu493=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721751	NM_007348.4(ATF6):c.484+20C>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718613	NM_007348.4(ATF6):c.1457G>A (p.Trp486Ter)	ATF6 (W486*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2716167	NM_007348.4(ATF6):c.1278A>T (p.Ala426=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713987	NM_007348.4(ATF6):c.904T>G (p.Ser302Ala)	ATF6 (S302A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700673	NM_007348.4(ATF6):c.1330del (p.Ser444fs)	ATF6 (S444fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2700662	NM_007348.4(ATF6):c.206G>A (p.Trp69Ter)	ATF6 (W69*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2639517	NM_007348.4(ATF6):c.1141G>T (p.Val381Leu)	ATF6 (V381L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618140	NM_007348.4(ATF6):c.661A>G (p.Ile221Val)	ATF6 (I221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616940	NM_007348.4(ATF6):c.1600A>G (p.Ile534Val)	ATF6 (I534V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595083	NM_007348.4(ATF6):c.1232C>G (p.Pro411Arg)	ATF6 (P411R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589288	NM_007348.4(ATF6):c.797C>T (p.Pro266Leu)	ATF6 (P266L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559479	NM_007348.4(ATF6):c.1312A>T (p.Ser438Cys)	ATF6 (S438C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558575	NM_007348.4(ATF6):c.1267G>C (p.Ala423Pro)	ATF6 (A423P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535902	NM_007348.4(ATF6):c.1224T>A (p.Ser408Arg)	ATF6 (S408R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531162	NM_007348.4(ATF6):c.920T>G (p.Leu307Arg)	ATF6 (L307R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528618	NM_007348.4(ATF6):c.1108A>G (p.Lys370Glu)	ATF6 (K370E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2327964	NM_007348.4(ATF6):c.386T>G (p.Met129Arg)	ATF6 (M129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2316033	NM_007348.4(ATF6):c.404A>G (p.Tyr135Cys)	ATF6 (Y135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284809	NM_007348.4(ATF6):c.802C>G (p.His268Asp)	ATF6 (H268D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225735	NM_007348.4(ATF6):c.1777A>G (p.Ile593Val)	ATF6 (I592V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195919	NM_007348.4(ATF6):c.1007C>T (p.Ala336Val)	ATF6 (A336V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189085	NM_007348.4(ATF6):c.654A>G (p.Gln218=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169803	NM_007348.4(ATF6):c.1632G>A (p.Val544=)	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 2134836	NM_007348.4(ATF6):c.88G>A (p.Ala30Thr)	ATF6 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133074	NM_007348.4(ATF6):c.1094A>T (p.Glu365Val)	ATF6 (E365V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129167	NM_007348.4(ATF6):c.1434-14A>T	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128404	NM_007348.4(ATF6):c.605C>A (p.Thr202Asn)	ATF6 (T202N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124638	NM_007348.4(ATF6):c.1482G>A (p.Arg494=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124190	NM_007348.4(ATF6):c.1294_1296delinsTAC (p.Gly432Tyr)	ATF6 (G432Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 2122155	NM_007348.4(ATF6):c.420T>C (p.Asn140=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121684	NM_007348.4(ATF6):c.1450C>T (p.Arg484Ter)	ATF6 (R484*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2113929	NM_007348.4(ATF6):c.1283A>G (p.Asp428Gly)	ATF6 (D428G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111600	NM_007348.4(ATF6):c.1019C>T (p.Ala340Val)	ATF6 (A340V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111035	NM_007348.4(ATF6):c.484+10T>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109091	NM_007348.4(ATF6):c.1320A>G (p.Arg440=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2107771	NM_007348.4(ATF6):c.1534-14_1534-11del	ATF6	Deletion (intron variant)	not provided	GLikely benign
Select item 2104336	NM_007348.4(ATF6):c.1916A>C (p.Asp639Ala)	ATF6 (D639A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102925	NM_007348.4(ATF6):c.1096-12C>A	ATF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098318	NM_007348.4(ATF6):c.847A>C (p.Asn283His)	ATF6 (N283H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093717	NM_007348.4(ATF6):c.1183A>G (p.Met395Val)	ATF6 (M395V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084844	NM_007348.4(ATF6):c.21T>C (p.Val7=)	ATF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059235	NM_007348.4(ATF6):c.1548G>C (p.Gln516His)	ATF6 (Q516H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2057129	NM_007348.4(ATF6):c.909+5G>A	ATF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2045392	NM_007348.4(ATF6):c.910-1G>T	ATF6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2043419	NM_007348.4(ATF6):c.1154T>C (p.Leu385Ser)	ATF6 (L385S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017893	NM_007348.4(ATF6):c.303A>C (p.Ser101=)	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 2012491	NM_007348.4(ATF6):c.1468C>T (p.His490Tyr)	ATF6 (H490Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 5