ClinVar for MedGen (Select 442824) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24362181.	NM_003098.3(SNTA1):c.1487C>T (p.Ala496Val) GRCh37: Chr20:31996344 GRCh38: Chr20:33408538	SNTA1	A496V	Long QT syndrome 12	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 15109522.	NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys) GRCh37: Chr20:31996623 GRCh38: Chr20:33408817	SNTA1	E437K	Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome	Conflicting interpretations of pathogenicity (Sep 25, 2022)	criteria provided, conflicting interpretations
Select item 15025993.	NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala) GRCh37: Chr20:32026724 GRCh38: Chr20:33438918	SNTA1	G140A	Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13850564.	NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu) GRCh37: Chr20:31996347 GRCh38: Chr20:33408541	SNTA1	S495L	not provided, Cardiovascular phenotype, Long QT syndrome 12, Long QT syndrome	Uncertain significance (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13744065.	NM_003098.3(SNTA1):c.910-3C>T GRCh37: Chr20:32000235 GRCh38: Chr20:33412429	SNTA1		Long QT syndrome 12, Long QT syndrome	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13086026.	NM_003098.3(SNTA1):c.316C>T (p.Arg106Trp) GRCh37: Chr20:32026827 GRCh38: Chr20:33439021	SNTA1	R106W	Long QT syndrome 12, not provided, Cardiovascular phenotype	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12847097.	NM_003098.3(SNTA1):c.497-5A>G GRCh37: Chr20:32005734 GRCh38: Chr20:33417928	SNTA1		Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10565688.	NM_003098.3(SNTA1):c.1283A>G (p.Asp428Gly) GRCh37: Chr20:31996649 GRCh38: Chr20:33408843	SNTA1	D428G	Long QT syndrome 12, Long QT syndrome	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10406769.	NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn) GRCh37: Chr20:32026773 GRCh38: Chr20:33438967	SNTA1	D124N	Long QT syndrome 12, Long QT syndrome	Uncertain significance (Oct 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103841310.	NM_003098.3(SNTA1):c.1003_1021dup (p.Ala341fs) GRCh37: Chr20:32000120-32000121 GRCh38: Chr20:33412314-33412315	SNTA1	A341fs	not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102966911.	NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu) GRCh37: Chr20:32031242 GRCh38: Chr20:33443436	SNTA1	A62E	Long QT syndrome 12	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 102361712.	NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln) GRCh37: Chr20:31996592 GRCh38: Chr20:33408786	SNTA1	R447Q	Long QT syndrome, Long QT syndrome 12	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100001513.	NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro) GRCh37: Chr20:31996345 GRCh38: Chr20:33408539	SNTA1	A496P	Long QT syndrome, Long QT syndrome 12	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94903014.	NM_003098.3(SNTA1):c.719C>T (p.Ser240Leu) GRCh37: Chr20:32000571 GRCh38: Chr20:33412765	SNTA1	S240L	Long QT syndrome 12, Long QT syndrome	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89911315.	NM_003098.3(SNTA1):c.538A>G (p.Thr180Ala) GRCh37: Chr20:32005688 GRCh38: Chr20:33417882	SNTA1	T180A	Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89905116.	NM_003098.3(SNTA1):c.*132C>T GRCh37: Chr20:31996181 GRCh38: Chr20:33408375	SNTA1		Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89905017.	NM_003098.3(SNTA1):c.*231C>T GRCh37: Chr20:31996082 GRCh38: Chr20:33408276	SNTA1		Long QT syndrome 12, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89904918.	NM_003098.3(SNTA1):c.*333G>A GRCh37: Chr20:31995980 GRCh38: Chr20:33408174	SNTA1		Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89904819.	NM_003098.3(SNTA1):c.*412G>C GRCh37: Chr20:31995901 GRCh38: Chr20:33408095	SNTA1		Long QT syndrome 12	Uncertain significance (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89798520.	NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg) GRCh37: Chr20:32000550 GRCh38: Chr20:33412744	SNTA1	L247R	Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89798421.	NM_003098.3(SNTA1):c.816G>T (p.Thr272=) GRCh37: Chr20:32000474 GRCh38: Chr20:33412668	SNTA1		Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89798322.	NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) GRCh37: Chr20:32000473 GRCh38: Chr20:33412667	SNTA1	P273S	Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89642423.	NM_003098.3(SNTA1):c.-70C>A GRCh37: Chr20:32031496 GRCh38: Chr20:33443690	SNTA1		Long QT syndrome 12	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89642324.	NM_003098.3(SNTA1):c.-62C>T GRCh37: Chr20:32031488 GRCh38: Chr20:33443682	SNTA1		Long QT syndrome 12	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89642225.	NM_003098.3(SNTA1):c.-42G>A GRCh37: Chr20:32031468 GRCh38: Chr20:33443662	SNTA1		Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89636626.	NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg) GRCh37: Chr20:32000117 GRCh38: Chr20:33412311	SNTA1	P342R	Long QT syndrome 12	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89636527.	NM_003098.3(SNTA1):c.1238-14T>C GRCh37: Chr20:31996708 GRCh38: Chr20:33408902	SNTA1		Long QT syndrome, Long QT syndrome 12, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 89498128.	NM_003098.3(SNTA1):c.115G>A (p.Val39Met) GRCh37: Chr20:32031312 GRCh38: Chr20:33443506	SNTA1	V39M	Cardiovascular phenotype, Long QT syndrome 12	Uncertain significance (Mar 14, 2019)	criteria provided, multiple submitters, no conflicts
Select item 89498029.	NM_003098.3(SNTA1):c.312C>A (p.Gly104=) GRCh37: Chr20:32026831 GRCh38: Chr20:33439025	SNTA1		Cardiovascular phenotype, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Apr 19, 2022)	criteria provided, conflicting interpretations
Select item 81169830.	NM_003098.3(SNTA1):c.459G>T (p.Gln153His) GRCh37: Chr20:32026684 GRCh38: Chr20:33438878	SNTA1	Q153H	Long QT syndrome 12	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81126831.	NM_003098.3(SNTA1):c.669G>A (p.Ser223=) GRCh37: Chr20:32005557 GRCh38: Chr20:33417751	SNTA1		Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12	Likely benign (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80924632.	NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys) GRCh37: Chr20:31996677 GRCh38: Chr20:33408871	SNTA1	R419C	Long QT syndrome, Long QT syndrome 12	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67572033.	NM_003098.2(SNTA1):c.-245C>A GRCh37: Chr20:32031671 GRCh38: Chr20:33443865	SNTA1		not provided, Long QT syndrome 12	Likely benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 67095134.	NM_003098.3(SNTA1):c.909+30T>C GRCh37: Chr20:32000351 GRCh38: Chr20:33412545	SNTA1		not provided, Long QT syndrome 12	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64972335.	NM_003098.3(SNTA1):c.1106G>A (p.Arg369His) GRCh37: Chr20:31998072 GRCh38: Chr20:33410266	SNTA1	R369H	Long QT syndrome 12, Long QT syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63299436.	NM_003098.3(SNTA1):c.1425+1G>A GRCh37: Chr20:31996506 GRCh38: Chr20:33408700	SNTA1		not provided, Cardiovascular phenotype, not specified, Long QT syndrome 12	Uncertain significance (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 61789937.	NM_003098.3(SNTA1):c.770C>T (p.Ala257Val) GRCh37: Chr20:32000520 GRCh38: Chr20:33412714	SNTA1	A257V	Long QT syndrome 12, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jul 7, 2021)	criteria provided, conflicting interpretations
Select item 57920038.	NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr) GRCh37: Chr20:32000121 GRCh38: Chr20:33412315	SNTA1	A341T	Cardiovascular phenotype, Long QT syndrome 12, Long QT syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56070339.	NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter) GRCh37: Chr20:31996593 GRCh38: Chr20:33408787	SNTA1	R447*	Long QT syndrome, Long QT syndrome 12	Uncertain significance (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54608540.	NM_003098.3(SNTA1):c.782C>T (p.Ala261Val) GRCh37: Chr20:32000508 GRCh38: Chr20:33412702	SNTA1	A261V	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52696441.	NM_003098.3(SNTA1):c.1147G>A (p.Val383Met) GRCh37: Chr20:31998031 GRCh38: Chr20:33410225	SNTA1	V383M	Long QT syndrome 12, Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49619442.	NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) GRCh37: Chr20:32031326 GRCh38: Chr20:33443520	SNTA1	S34N	not provided, Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45707943.	NM_003098.3(SNTA1):c.701+10G>A GRCh37: Chr20:32005515 GRCh38: Chr20:33417709	SNTA1		not specified, not provided, Long QT syndrome, Long QT syndrome 12	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44972444.	NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg) GRCh37: Chr20:31996544 GRCh38: Chr20:33408738	SNTA1	L463R	Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 12, not provided	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43286645.	NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys) GRCh37: Chr20:31997998 GRCh38: Chr20:33410192	SNTA1	R394C	Long QT syndrome, not provided, Long QT syndrome 12	Uncertain significance (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43138046.	NM_003098.3(SNTA1):c.194A>G (p.Asn65Ser) GRCh37: Chr20:32031233 GRCh38: Chr20:33443427	SNTA1	N65S	Long QT syndrome 12	Uncertain significance (Mar 20, 2017)	criteria provided, single submitter
Select item 39280047.	NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys) GRCh37: Chr20:32000127 GRCh38: Chr20:33412321	SNTA1	R339C	Cardiovascular phenotype, not provided, Long QT syndrome 12, Long QT syndrome	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37863148.	NM_003098.3(SNTA1):c.1488C>A (p.Ala496=) GRCh37: Chr20:31996343 GRCh38: Chr20:33408537	SNTA1		not provided, Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype	Benign/Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37862949.	NM_003098.3(SNTA1):c.210G>C (p.Pro70=) GRCh37: Chr20:32031217 GRCh38: Chr20:33443411	SNTA1		not provided, Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 33822950.	NM_003098.2(SNTA1):c.-262C>T GRCh37: Chr20:32031688 GRCh38: Chr20:33443882	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33822851.	NM_003098.2(SNTA1):c.-261C>A GRCh37: Chr20:32031687 GRCh38: Chr20:33443881	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33822752.	NM_003098.2(SNTA1):c.-255G>C GRCh37: Chr20:32031681 GRCh38: Chr20:33443875	SNTA1		Long QT syndrome 12, Congenital long QT syndrome, not provided	Benign/Likely benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33822453.	NM_003098.2(SNTA1):c.-186C>T GRCh37: Chr20:32031612 GRCh38: Chr20:33443806	SNTA1		Long QT syndrome 12, Congenital long QT syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33822354.	NM_003098.3(SNTA1):c.-96G>A GRCh37: Chr20:32031522 GRCh38: Chr20:33443716	SNTA1		Congenital long QT syndrome, not provided, Long QT syndrome 12	Benign/Likely benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33822255.	NM_003098.3(SNTA1):c.-96G>C GRCh37: Chr20:32031522 GRCh38: Chr20:33443716	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33822156.	NM_003098.3(SNTA1):c.-18G>A GRCh37: Chr20:32031444 GRCh38: Chr20:33443638	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33822057.	NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr) GRCh37: Chr20:32031150 GRCh38: Chr20:33443344	SNTA1	A93T	Cardiovascular phenotype, Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Jan 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33821958.	NM_003098.3(SNTA1):c.497-7C>T GRCh37: Chr20:32005736 GRCh38: Chr20:33417930	SNTA1		Congenital long QT syndrome, not provided, Long QT syndrome 12, Long QT syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33821859.	NM_003098.3(SNTA1):c.514G>A (p.Val172Ile) GRCh37: Chr20:32005712 GRCh38: Chr20:33417906	SNTA1	V172I	Cardiovascular phenotype, Congenital long QT syndrome, Long QT syndrome 12, Long QT syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33821760.	NM_003098.3(SNTA1):c.651G>A (p.Leu217=) GRCh37: Chr20:32005575 GRCh38: Chr20:33417769	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33821661.	NM_003098.3(SNTA1):c.993C>T (p.Arg331=) GRCh37: Chr20:32000149 GRCh38: Chr20:33412343	SNTA1		Long QT syndrome, Long QT syndrome 12, Cardiovascular phenotype, Congenital long QT syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 33821562.	NM_003098.3(SNTA1):c.1118G>A (p.Arg373His) GRCh37: Chr20:31998060 GRCh38: Chr20:33410254	SNTA1	R373H	Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33821463.	NM_003098.3(SNTA1):c.1181G>A (p.Arg394His) GRCh37: Chr20:31997997 GRCh38: Chr20:33410191	SNTA1	R394H	Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33821364.	NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) GRCh37: Chr20:31997973 GRCh38: Chr20:33410167	SNTA1	R402Q	Cardiovascular phenotype, Congenital long QT syndrome, not provided, Long QT syndrome 12, Long QT syndrome	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33821265.	NM_003098.3(SNTA1):c.1238-13G>C GRCh37: Chr20:31996707 GRCh38: Chr20:33408901	SNTA1		Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Apr 24, 2022)	criteria provided, conflicting interpretations
Select item 33821166.	NM_003098.3(SNTA1):c.1479C>T (p.Phe493=) GRCh37: Chr20:31996352 GRCh38: Chr20:33408546	SNTA1		Congenital long QT syndrome, Long QT syndrome 12, Long QT syndrome	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 33821067.	NM_003098.3(SNTA1):c.*6G>A GRCh37: Chr20:31996307 GRCh38: Chr20:33408501	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33820968.	NM_003098.3(SNTA1):c.*79C>A GRCh37: Chr20:31996234 GRCh38: Chr20:33408428	SNTA1		Congenital long QT syndrome, not provided, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33820869.	NM_003098.3(SNTA1):c.*122G>A GRCh37: Chr20:31996191 GRCh38: Chr20:33408385	SNTA1		Congenital long QT syndrome, not provided, Long QT syndrome 12	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33820770.	NM_003098.3(SNTA1):c.*342C>T GRCh37: Chr20:31995971 GRCh38: Chr20:33408165	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33820671.	NM_003098.3(SNTA1):c.*343G>A GRCh37: Chr20:31995970 GRCh38: Chr20:33408164	SNTA1		Congenital long QT syndrome, Long QT syndrome 12	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 26434872.	NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) GRCh37: Chr20:32005606 GRCh38: Chr20:33417800	SNTA1	R207Q	Long QT syndrome 12, Dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy, Long QT syndrome, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Aug 11, 2022)	criteria provided, conflicting interpretations
Select item 26428873.	NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp) GRCh37: Chr20:32005607 GRCh38: Chr20:33417801	SNTA1	R207W	Cardiovascular phenotype, Long QT syndrome 12, Long QT syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 26402174.	NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) GRCh37: Chr20:32031402 GRCh38: Chr20:33443596	SNTA1	R9C	Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 12, not provided	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26362375.	NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) GRCh37: Chr20:32005660 GRCh38: Chr20:33417854	SNTA1	S189L	Cardiovascular phenotype, Long QT syndrome 12, Long QT syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 26347676.	NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) GRCh37: Chr20:32031206 GRCh38: Chr20:33443400	SNTA1	P74L	Ventricular tachycardia, Long QT syndrome 12, Long QT syndrome, Cardiovascular phenotype, not specified	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 26342577.	NM_003098.3(SNTA1):c.555C>T (p.Val185=) GRCh37: Chr20:32005671 GRCh38: Chr20:33417865	SNTA1		Cardiovascular phenotype, Congenital long QT syndrome, not specified, not provided, Long QT syndrome, Long QT syndrome 12	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26342478.	NM_003098.3(SNTA1):c.807T>C (p.Asn269=) GRCh37: Chr20:32000483 GRCh38: Chr20:33412677	SNTA1		Cardiovascular phenotype, Congenital long QT syndrome, Long QT syndrome, not provided, Long QT syndrome 12	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23949879.	NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) GRCh37: Chr20:31996582 GRCh38: Chr20:33408776	SNTA1		Cardiovascular phenotype, Congenital long QT syndrome, not specified, Long QT syndrome, not provided, Long QT syndrome 12	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22095880.	NM_003098.3(SNTA1):c.828G>A (p.Lys276=) GRCh37: Chr20:32000462 GRCh38: Chr20:33412656	SNTA1		Cardiovascular phenotype, Congenital long QT syndrome, not provided, Long QT syndrome, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 21550381.	NM_003098.3(SNTA1):c.1426-5T>C GRCh37: Chr20:31996410 GRCh38: Chr20:33408604	SNTA1		Cardiovascular phenotype, not specified, Long QT syndrome, Long QT syndrome 12	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20336682.	NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) GRCh37: Chr20:31997974 GRCh38: Chr20:33410168	SNTA1	R402W	Cardiovascular phenotype, Long QT syndrome 12	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19157683.	NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) GRCh37: Chr20:32026826 GRCh38: Chr20:33439020	SNTA1	R106Q	Cardiovascular phenotype, not provided, not specified, Long QT syndrome, Primary dilated cardiomyopathy, Long QT syndrome 12	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19154884.	NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) GRCh37: Chr20:32000520 GRCh38: Chr20:33412714	SNTA1	A257G	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12, Long QT syndrome 1, not specified	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 19151285.	NM_003098.3(SNTA1):c.375G>C (p.Gln125His) GRCh37: Chr20:32026768 GRCh38: Chr20:33438962	SNTA1	Q125H	not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19150686.	NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) GRCh37: Chr20:31996333 GRCh38: Chr20:33408527	SNTA1	R500C	not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19093887.	NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) GRCh37: Chr20:32026740 GRCh38: Chr20:33438934	SNTA1	I135L	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19093588.	NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser) GRCh37: Chr20:32005670 GRCh38: Chr20:33417864	SNTA1	G186S	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Nov 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19093489.	NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) GRCh37: Chr20:32031267 GRCh38: Chr20:33443461	SNTA1	G54R	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 19093290.	NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) GRCh37: Chr20:32031387 GRCh38: Chr20:33443581	SNTA1	E14K	Cardiovascular phenotype, not specified, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19093091.	NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) GRCh37: Chr20:32026703 GRCh38: Chr20:33438897	SNTA1	T147N	Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 1, not provided, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 19092792.	NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) GRCh37: Chr20:31996327 GRCh38: Chr20:33408521	SNTA1	G502R	Long QT syndrome, Long QT syndrome 12	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19092193.	NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) GRCh37: Chr20:31996676 GRCh38: Chr20:33408870	SNTA1	R419H	Congenital long QT syndrome, not provided, Long QT syndrome 12	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 19092094.	NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) GRCh37: Chr20:31996688 GRCh38: Chr20:33408882	SNTA1	T415M	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19091895.	NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) GRCh37: Chr20:31998090 GRCh38: Chr20:33410284	SNTA1	E363A	Cardiovascular phenotype, not specified, not provided, Long QT syndrome, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Feb 13, 2023)	criteria provided, conflicting interpretations
Select item 19091796.	NM_003098.3(SNTA1):c.992G>A (p.Arg331His) GRCh37: Chr20:32000150 GRCh38: Chr20:33412344	SNTA1	R331H	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19091497.	NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) GRCh37: Chr20:32000503 GRCh38: Chr20:33412697	SNTA1	A263S	Cardiovascular phenotype, Congenital long QT syndrome, not provided, not specified, Long QT syndrome, Long QT syndrome 12	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 19091298.	NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) GRCh37: Chr20:32000531 GRCh38: Chr20:33412725	SNTA1	D253E	Cardiovascular phenotype, not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19091099.	NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu) GRCh37: Chr20:32005558 GRCh38: Chr20:33417752	SNTA1	S223L	Long QT syndrome 12, Cardiovascular phenotype, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190909100.	NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) GRCh37: Chr20:32005700 GRCh38: Chr20:33417894	SNTA1	F176L	not provided, Long QT syndrome, Long QT syndrome 12	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts

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