ClinVar for MedGen (Select 481323) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 198

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21962631.	NM_181703.4(GJA5):c.591C>T (p.Tyr197=) GRCh37: Chr1:147230756 GRCh38: Chr1:147758648	GJA5, LOC122128420		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 21961172.	NM_181703.4(GJA5):c.646G>A (p.Ala216Thr) GRCh37: Chr1:147230701 GRCh38: Chr1:147758593	GJA5, LOC122128420	A216T	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 21958933.	NM_181703.4(GJA5):c.821G>A (p.Gly274Asp) GRCh37: Chr1:147230526 GRCh38: Chr1:147758418	LOC122128420, GJA5	G274D	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 21828254.	NM_181703.4(GJA5):c.497G>C (p.Gly166Ala) GRCh37: Chr1:147230850 GRCh38: Chr1:147758742	GJA5	G166A	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 21752675.	NM_181703.4(GJA5):c.948T>A (p.Arg316=) GRCh37: Chr1:147230399 GRCh38: Chr1:147758291	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 21718316.	NM_181703.4(GJA5):c.824C>G (p.Pro275Arg) GRCh37: Chr1:147230523 GRCh38: Chr1:147758415	LOC122128420, GJA5	P275R	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 21701727.	NM_181703.4(GJA5):c.351C>T (p.Val117=) GRCh37: Chr1:147230996 GRCh38: Chr1:147758888	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 21670658.	NM_181703.4(GJA5):c.815A>C (p.Glu272Ala) GRCh37: Chr1:147230532 GRCh38: Chr1:147758424	LOC122128420, GJA5	E272A	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 21651789.	NM_181703.4(GJA5):c.269T>C (p.Leu90Pro) GRCh37: Chr1:147231078 GRCh38: Chr1:147758970	GJA5	L90P	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 215707910.	NM_181703.4(GJA5):c.795C>T (p.Pro265=) GRCh37: Chr1:147230552 GRCh38: Chr1:147758444	GJA5, LOC122128420		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 215688611.	NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn) GRCh37: Chr1:147230324 GRCh38: Chr1:147758216	GJA5	K341N	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215489212.	NM_181703.4(GJA5):c.299T>G (p.Val100Gly) GRCh37: Chr1:147231048 GRCh38: Chr1:147758940	GJA5	V100G	Atrial standstill 1, Atrial fibrillation, familial, 11, Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214513413.	NM_181703.4(GJA5):c.598C>T (p.Arg200Trp) GRCh37: Chr1:147230749 GRCh38: Chr1:147758641	LOC122128420, GJA5	R200W	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 214110914.	NM_181703.4(GJA5):c.445C>T (p.Leu149=) GRCh37: Chr1:147230902 GRCh38: Chr1:147758794	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 213945915.	NM_181703.4(GJA5):c.863C>T (p.Ala288Val) GRCh37: Chr1:147230484 GRCh38: Chr1:147758376	GJA5	A288V	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 213390516.	NM_181703.4(GJA5):c.287C>A (p.Ala96Asp) GRCh37: Chr1:147231060 GRCh38: Chr1:147758952	GJA5	A96D	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213189117.	NM_181703.4(GJA5):c.213C>T (p.Pro71=) GRCh37: Chr1:147231134 GRCh38: Chr1:147759026	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212270218.	NM_181703.4(GJA5):c.435C>T (p.Leu145=) GRCh37: Chr1:147230912 GRCh38: Chr1:147758804	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 212128719.	NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr) GRCh37: Chr1:147231050-147231051 GRCh38: Chr1:147758942-147758943	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211780120.	NM_181703.4(GJA5):c.479G>A (p.Arg160His) GRCh37: Chr1:147230868 GRCh38: Chr1:147758760	GJA5	R160H	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211764621.	NM_181703.4(GJA5):c.913G>A (p.Glu305Lys) GRCh37: Chr1:147230434 GRCh38: Chr1:147758326	GJA5	E305K	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210842022.	NM_181703.4(GJA5):c.607G>A (p.Glu203Lys) GRCh37: Chr1:147230740 GRCh38: Chr1:147758632	LOC122128420, GJA5	E203K	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 209799123.	NM_181703.4(GJA5):c.203A>G (p.Gln68Arg) GRCh37: Chr1:147231144 GRCh38: Chr1:147759036	GJA5	Q68R	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 209375324.	NM_181703.4(GJA5):c.510C>A (p.Gly170=) GRCh37: Chr1:147230837 GRCh38: Chr1:147758729	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 208910025.	NM_181703.4(GJA5):c.638C>A (p.Ala213Asp) GRCh37: Chr1:147230709 GRCh38: Chr1:147758601	GJA5, LOC122128420	A213D	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 207695226.	NM_181703.4(GJA5):c.268C>T (p.Leu90=) GRCh37: Chr1:147231079 GRCh38: Chr1:147758971	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 207006227.	NM_181703.4(GJA5):c.566C>G (p.Pro189Arg) GRCh37: Chr1:147230781 GRCh38: Chr1:147758673	GJA5, LOC122128420	P189R	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 206491228.	NM_181703.4(GJA5):c.722C>G (p.Pro241Arg) GRCh37: Chr1:147230625 GRCh38: Chr1:147758517	LOC122128420, GJA5	P241R	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 205944329.	NM_181703.4(GJA5):c.30C>T (p.Phe10=) GRCh37: Chr1:147231317 GRCh38: Chr1:147759209	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 205798630.	NM_181703.4(GJA5):c.650T>C (p.Leu217Pro) GRCh37: Chr1:147230697 GRCh38: Chr1:147758589	GJA5, LOC122128420	L217P	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205737531.	NM_181703.4(GJA5):c.105C>T (p.Leu35=) GRCh37: Chr1:147231242 GRCh38: Chr1:147759134	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 205279032.	NM_181703.4(GJA5):c.415G>A (p.Gly139Arg) GRCh37: Chr1:147230932 GRCh38: Chr1:147758824	GJA5	G139R	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 205029833.	NM_181703.4(GJA5):c.908G>A (p.Gly303Asp) GRCh37: Chr1:147230439 GRCh38: Chr1:147758331	GJA5	G303D	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 204930134.	NM_181703.4(GJA5):c.947G>T (p.Arg316Leu) GRCh37: Chr1:147230400 GRCh38: Chr1:147758292	GJA5	R316L	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 204886135.	NM_181703.4(GJA5):c.989G>C (p.Gly330Ala) GRCh37: Chr1:147230358 GRCh38: Chr1:147758250	GJA5	G330A	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 204440336.	NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr) GRCh37: Chr1:147230347 GRCh38: Chr1:147758239	GJA5	P334T	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 204231937.	NM_181703.4(GJA5):c.23del (p.Gly8fs) GRCh37: Chr1:147231324 GRCh38: Chr1:147759216	GJA5	G8fs	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 203710438.	NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro) GRCh37: Chr1:147230308 GRCh38: Chr1:147758200	GJA5	A347P	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 203376339.	NM_181703.4(GJA5):c.870A>G (p.Gln290=) GRCh37: Chr1:147230477 GRCh38: Chr1:147758369	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 203035840.	NM_181703.4(GJA5):c.281del (p.Gly94fs) GRCh37: Chr1:147231066 GRCh38: Chr1:147758958	GJA5	G94fs	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 201473741.	NM_181703.4(GJA5):c.730C>T (p.His244Tyr) GRCh37: Chr1:147230617 GRCh38: Chr1:147758509	LOC122128420, GJA5	H244Y	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 201151642.	NM_181703.4(GJA5):c.834del (p.Lys278fs) GRCh37: Chr1:147230513 GRCh38: Chr1:147758405	LOC122128420, GJA5	K278fs	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 201078843.	NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile) GRCh37: Chr1:147230317 GRCh38: Chr1:147758209	GJA5	L344I	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 200472744.	NM_181703.4(GJA5):c.584A>G (p.Asn195Ser) GRCh37: Chr1:147230763 GRCh38: Chr1:147758655	LOC122128420, GJA5	N195S	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 198303345.	NM_181703.4(GJA5):c.685C>T (p.Leu229=) GRCh37: Chr1:147230662 GRCh38: Chr1:147758554	GJA5, LOC122128420		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 198181646.	NM_181703.4(GJA5):c.521T>A (p.Ile174Asn) GRCh37: Chr1:147230826 GRCh38: Chr1:147758718	GJA5	I174N	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 196772547.	NM_181703.4(GJA5):c.255C>A (p.Val85=) GRCh37: Chr1:147231092 GRCh38: Chr1:147758984	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 193938748.	NM_181703.4(GJA5):c.160T>C (p.Cys54Arg) GRCh37: Chr1:147231187 GRCh38: Chr1:147759079	GJA5	C54R	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Apr 2, 2022)	criteria provided, single submitter
Select item 193092849.	NM_181703.4(GJA5):c.287C>T (p.Ala96Val) GRCh37: Chr1:147231060 GRCh38: Chr1:147758952	GJA5	A96V	Inborn genetic diseases, Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192383850.	NM_181703.4(GJA5):c.860T>A (p.Met287Lys) GRCh37: Chr1:147230487 GRCh38: Chr1:147758379	GJA5	M287K	not provided, Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190462151.	NM_181703.4(GJA5):c.635T>C (p.Leu212Pro) GRCh37: Chr1:147230712 GRCh38: Chr1:147758604	LOC122128420, GJA5	L212P	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 190246352.	NM_181703.4(GJA5):c.317G>A (p.Arg106His) GRCh37: Chr1:147231030 GRCh38: Chr1:147758922	GJA5	R106H	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 171921953.	NM_181703.4(GJA5):c.266C>G (p.Ser89Cys) GRCh37: Chr1:147231081 GRCh38: Chr1:147758973	GJA5	S89C	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 171495054.	NM_181703.4(GJA5):c.824C>T (p.Pro275Leu) GRCh37: Chr1:147230523 GRCh38: Chr1:147758415	GJA5, LOC122128420	P275L	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 165661555.	NM_181703.4(GJA5):c.537G>C (p.Leu179=) GRCh37: Chr1:147230810 GRCh38: Chr1:147758702	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 163880656.	NM_181703.4(GJA5):c.813G>A (p.Leu271=) GRCh37: Chr1:147230534 GRCh38: Chr1:147758426	GJA5, LOC122128420		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (May 1, 2021)	criteria provided, single submitter
Select item 163229457.	NM_181703.4(GJA5):c.798C>T (p.Asp266=) GRCh37: Chr1:147230549 GRCh38: Chr1:147758441	GJA5, LOC122128420		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 163092058.	NM_181703.4(GJA5):c.1071A>T (p.Ser357=) GRCh37: Chr1:147230276 GRCh38: Chr1:147758168	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 163058559.	NM_181703.4(GJA5):c.258C>T (p.Ser86=) GRCh37: Chr1:147231089 GRCh38: Chr1:147758981	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 162763860.	NM_181703.4(GJA5):c.1023G>A (p.Lys341=) GRCh37: Chr1:147230324 GRCh38: Chr1:147758216	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Jun 21, 2021)	criteria provided, single submitter
Select item 162165961.	NM_181703.4(GJA5):c.867C>T (p.Ser289=) GRCh37: Chr1:147230480 GRCh38: Chr1:147758372	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 160782862.	NM_181703.4(GJA5):c.543C>T (p.Thr181=) GRCh37: Chr1:147230804 GRCh38: Chr1:147758696	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Aug 30, 2021)	criteria provided, single submitter
Select item 159255763.	NM_181703.4(GJA5):c.447G>C (p.Leu149=) GRCh37: Chr1:147230900 GRCh38: Chr1:147758792	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Nov 14, 2020)	criteria provided, single submitter
Select item 158374964.	NM_181703.4(GJA5):c.1065C>T (p.Asp355=) GRCh37: Chr1:147230282 GRCh38: Chr1:147758174	GJA5		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 158138465.	NM_181703.4(GJA5):c.516C>T (p.Tyr172=) GRCh37: Chr1:147230831 GRCh38: Chr1:147758723	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 157951566.	NM_181703.4(GJA5):c.738T>C (p.Ala246=) GRCh37: Chr1:147230609 GRCh38: Chr1:147758501	GJA5, LOC122128420		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Aug 30, 2021)	criteria provided, single submitter
Select item 157924167.	NM_181703.4(GJA5):c.123T>A (p.Ala41=) GRCh37: Chr1:147231224 GRCh38: Chr1:147759116	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157831568.	NM_181703.4(GJA5):c.618C>G (p.Val206=) GRCh37: Chr1:147230729 GRCh38: Chr1:147758621	GJA5, LOC122128420		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Aug 15, 2021)	criteria provided, single submitter
Select item 155589569.	NM_181703.4(GJA5):c.438G>A (p.Gln146=) GRCh37: Chr1:147230909 GRCh38: Chr1:147758801	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Oct 23, 2021)	criteria provided, single submitter
Select item 155063670.	NM_181703.4(GJA5):c.945T>A (p.Val315=) GRCh37: Chr1:147230402 GRCh38: Chr1:147758294	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Oct 16, 2021)	criteria provided, single submitter
Select item 154835471.	NM_181703.4(GJA5):c.378G>A (p.Pro126=) GRCh37: Chr1:147230969 GRCh38: Chr1:147758861	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Aug 13, 2021)	criteria provided, single submitter
Select item 154401172.	NM_181703.4(GJA5):c.138G>A (p.Gly46=) GRCh37: Chr1:147231209 GRCh38: Chr1:147759101	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 154237773.	NM_181703.4(GJA5):c.780C>T (p.Ser260=) GRCh37: Chr1:147230567 GRCh38: Chr1:147758459	GJA5, LOC122128420		Atrial fibrillation, familial, 11, Atrial standstill 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 153672674.	NM_181703.4(GJA5):c.765G>C (p.Val255=) GRCh37: Chr1:147230582 GRCh38: Chr1:147758474	GJA5, LOC122128420		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Aug 15, 2021)	criteria provided, single submitter
Select item 153218175.	NM_181703.4(GJA5):c.567C>G (p.Pro189=) GRCh37: Chr1:147230780 GRCh38: Chr1:147758672	GJA5, LOC122128420		Atrial standstill 1, Atrial fibrillation, familial, 11	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 152271076.	NM_181703.4(GJA5):c.665G>C (p.Ser222Thr) GRCh37: Chr1:147230682 GRCh38: Chr1:147758574	GJA5, LOC122128420	S222T	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 150934477.	NM_181703.4(GJA5):c.355G>T (p.Gly119Cys) GRCh37: Chr1:147230992 GRCh38: Chr1:147758884	GJA5	G119C	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 150780478.	NM_181703.4(GJA5):c.795dup (p.Asp266fs) GRCh37: Chr1:147230551-147230552 GRCh38: Chr1:147758443-147758444	GJA5, LOC122128420	D266fs	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 150695779.	NM_181703.4(GJA5):c.481A>G (p.Thr161Ala) GRCh37: Chr1:147230866 GRCh38: Chr1:147758758	GJA5	T161A	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 150445780.	NM_181703.4(GJA5):c.905G>A (p.Arg302Gln) GRCh37: Chr1:147230442 GRCh38: Chr1:147758334	GJA5	R302Q	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 150232281.	NM_181703.4(GJA5):c.227G>A (p.Arg76His) GRCh37: Chr1:147231120 GRCh38: Chr1:147759012	GJA5	R76H	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Jun 29, 2021)	criteria provided, single submitter
Select item 149798882.	NM_181703.4(GJA5):c.362G>A (p.Gly121Asp) GRCh37: Chr1:147230985 GRCh38: Chr1:147758877	GJA5	G121D	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 149272083.	NM_181703.4(GJA5):c.370G>C (p.Glu124Gln) GRCh37: Chr1:147230977 GRCh38: Chr1:147758869	GJA5	E124Q	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 149072284.	NM_181703.4(GJA5):c.551T>A (p.Val184Asp) GRCh37: Chr1:147230796 GRCh38: Chr1:147758688	GJA5	V184D	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148309285.	NM_181703.4(GJA5):c.369_370del (p.Tyr123_Glu124delinsTer) GRCh37: Chr1:147230977-147230978 GRCh38: Chr1:147758869-147758870	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 148248186.	NM_181703.4(GJA5):c.920C>T (p.Thr307Ile) GRCh37: Chr1:147230427 GRCh38: Chr1:147758319	GJA5	T307I	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 147896987.	NM_181703.4(GJA5):c.953G>T (p.Gly318Val) GRCh37: Chr1:147230394 GRCh38: Chr1:147758286	GJA5	G318V	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 146538488.	NM_181703.4(GJA5):c.974A>G (p.Asn325Ser) GRCh37: Chr1:147230373 GRCh38: Chr1:147758265	GJA5	N325S	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 146377489.	NM_181703.4(GJA5):c.542C>T (p.Thr181Ile) GRCh37: Chr1:147230805 GRCh38: Chr1:147758697	GJA5	T181I	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 144821190.	NM_181703.4(GJA5):c.317G>T (p.Arg106Leu) GRCh37: Chr1:147231030 GRCh38: Chr1:147758922	GJA5	R106L	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 144521791.	NM_181703.4(GJA5):c.365C>G (p.Ser122Cys) GRCh37: Chr1:147230982 GRCh38: Chr1:147758874	GJA5	S122C	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 144431692.	NM_181703.4(GJA5):c.994C>T (p.Arg332Cys) GRCh37: Chr1:147230353 GRCh38: Chr1:147758245	GJA5	R332C	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 144401693.	NC_000001.10:g.(?_147230270)_(147231346_?)del GRCh37: Chr1:147230270-147231346	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 144243794.	NM_181703.4(GJA5):c.833A>G (p.Lys278Arg) GRCh37: Chr1:147230514 GRCh38: Chr1:147758406	GJA5, LOC122128420	K278R	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 18, 2021)	criteria provided, single submitter
Select item 143801895.	NM_181703.4(GJA5):c.947G>C (p.Arg316Pro) GRCh37: Chr1:147230400 GRCh38: Chr1:147758292	GJA5	R316P	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 142950096.	NC_000001.10:g.(?_147230270)_(147231346_?)dup GRCh37: Chr1:147230270-147231346	GJA5		Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 142516297.	NM_181703.4(GJA5):c.776A>C (p.Gln259Pro) GRCh37: Chr1:147230571 GRCh38: Chr1:147758463	GJA5, LOC122128420	Q259P	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 142458398.	NM_181703.4(GJA5):c.413A>C (p.Glu138Ala) GRCh37: Chr1:147230934 GRCh38: Chr1:147758826	GJA5	E138A	Atrial standstill 1, Atrial fibrillation, familial, 11	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 142232999.	NM_181703.4(GJA5):c.347A>C (p.Glu116Ala) GRCh37: Chr1:147231000 GRCh38: Chr1:147758892	GJA5	E116A	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 1419750100.	NM_181703.4(GJA5):c.316C>T (p.Arg106Cys) GRCh37: Chr1:147231031 GRCh38: Chr1:147758923	GJA5	R106C	Atrial fibrillation, familial, 11, Atrial standstill 1	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter

<< First< Prev

Page of 2