ClinVar for MedGen (Select 393658) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 368

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274371.	NM_002234.4(KCNA5):c.897C>A (p.Asn299Lys) GRCh37: Chr12:5154210 GRCh38: Chr12:5045044	KCNA5	N299K	KCNA5-related condition, Atrial fibrillation, familial, 7	Uncertain significance (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25846022.	NM_002234.4(KCNA5):c.10G>T (p.Ala4Ser) GRCh37: Chr12:5153323 GRCh38: Chr12:5044157	KCNA5	A4S	Atrial fibrillation, familial, 7	Uncertain significance (Feb 24, 2023)	criteria provided, single submitter
Select item 24329873.	NM_002234.4(KCNA5):c.512G>A (p.Ser171Asn) GRCh37: Chr12:5153825 GRCh38: Chr12:5044659	KCNA5	S171N	Atrial fibrillation, familial, 7	Uncertain significance (Dec 9, 2022)	criteria provided, single submitter
Select item 24243794.	NC_000012.11:g.(?_5020545)_(5155155_?)dup GRCh37: Chr12:5020545-5155155	KCNA1, KCNA5		Atrial fibrillation, familial, 7	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 24141915.	NM_002234.4(KCNA5):c.320T>G (p.Val107Gly) GRCh37: Chr12:5153633 GRCh38: Chr12:5044467	KCNA5	V107G	Atrial fibrillation, familial, 7	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 22028206.	NM_002234.4(KCNA5):c.683C>A (p.Pro228His) GRCh37: Chr12:5153996 GRCh38: Chr12:5044830	KCNA5	P228H	Atrial fibrillation, familial, 7	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 21969557.	NM_002234.4(KCNA5):c.447C>A (p.Pro149=) GRCh37: Chr12:5153760 GRCh38: Chr12:5044594	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 21909738.	NM_002234.4(KCNA5):c.1020C>G (p.Leu340=) GRCh37: Chr12:5154333 GRCh38: Chr12:5045167	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 21897549.	NM_002234.4(KCNA5):c.1667dup (p.Ser557fs) GRCh37: Chr12:5154979-5154980 GRCh38: Chr12:5045813-5045814	KCNA5	S557fs	Atrial fibrillation, familial, 7	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 218852310.	NM_002234.4(KCNA5):c.1789C>A (p.Arg597=) GRCh37: Chr12:5155102 GRCh38: Chr12:5045936	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 216699611.	NM_002234.4(KCNA5):c.1543A>G (p.Ile515Val) GRCh37: Chr12:5154856 GRCh38: Chr12:5045690	KCNA5	I515V	Atrial fibrillation, familial, 7	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 216687812.	NM_002234.4(KCNA5):c.1769C>T (p.Ala590Val) GRCh37: Chr12:5155082 GRCh38: Chr12:5045916	KCNA5	A590V	Atrial fibrillation, familial, 7	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 216403413.	NM_002234.4(KCNA5):c.613C>T (p.Leu205=) GRCh37: Chr12:5153926 GRCh38: Chr12:5044760	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 215702214.	NM_002234.4(KCNA5):c.20C>G (p.Pro7Arg) GRCh37: Chr12:5153333 GRCh38: Chr12:5044167	KCNA5	P7R	Atrial fibrillation, familial, 7	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 215485615.	NM_002234.4(KCNA5):c.206C>T (p.Pro69Leu) GRCh37: Chr12:5153519 GRCh38: Chr12:5044353	KCNA5	P69L	Atrial fibrillation, familial, 7	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 215327716.	NM_002234.4(KCNA5):c.1114C>G (p.Leu372Val) GRCh37: Chr12:5154427 GRCh38: Chr12:5045261	KCNA5	L372V	Atrial fibrillation, familial, 7, Inborn genetic diseases	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215094117.	NM_002234.4(KCNA5):c.959T>C (p.Leu320Pro) GRCh37: Chr12:5154272 GRCh38: Chr12:5045106	KCNA5	L320P	Atrial fibrillation, familial, 7	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 215062218.	NM_002234.4(KCNA5):c.602G>T (p.Arg201Leu) GRCh37: Chr12:5153915 GRCh38: Chr12:5044749	KCNA5	R201L	Atrial fibrillation, familial, 7	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215062119.	NM_002234.4(KCNA5):c.378C>T (p.Ile126=) GRCh37: Chr12:5153691 GRCh38: Chr12:5044525	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 214704420.	NM_002234.4(KCNA5):c.349C>T (p.Leu117=) GRCh37: Chr12:5153662 GRCh38: Chr12:5044496	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 214498121.	NM_002234.4(KCNA5):c.621C>G (p.Asp207Glu) GRCh37: Chr12:5153934 GRCh38: Chr12:5044768	KCNA5	D207E	Atrial fibrillation, familial, 7	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 214400222.	NM_002234.4(KCNA5):c.1612G>C (p.Glu538Gln) GRCh37: Chr12:5154925 GRCh38: Chr12:5045759	KCNA5	E538Q	Atrial fibrillation, familial, 7	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 214400123.	NM_002234.4(KCNA5):c.860C>A (p.Ala287Glu) GRCh37: Chr12:5154173 GRCh38: Chr12:5045007	KCNA5	A287E	Atrial fibrillation, familial, 7	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 214365624.	NM_002234.4(KCNA5):c.183C>T (p.Asp61=) GRCh37: Chr12:5153496 GRCh38: Chr12:5044330	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 211511025.	NM_002234.4(KCNA5):c.377T>C (p.Ile126Thr) GRCh37: Chr12:5153690 GRCh38: Chr12:5044524	KCNA5	I126T	Atrial fibrillation, familial, 7	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211160326.	NM_002234.4(KCNA5):c.1006A>T (p.Thr336Ser) GRCh37: Chr12:5154319 GRCh38: Chr12:5045153	KCNA5	T336S	Atrial fibrillation, familial, 7	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 211099127.	NM_002234.4(KCNA5):c.282G>A (p.Glu94=) GRCh37: Chr12:5153595 GRCh38: Chr12:5044429	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 210512728.	NM_002234.4(KCNA5):c.219G>A (p.Pro73=) GRCh37: Chr12:5153532 GRCh38: Chr12:5044366	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210251629.	NM_002234.4(KCNA5):c.1408G>A (p.Ala470Thr) GRCh37: Chr12:5154721 GRCh38: Chr12:5045555	KCNA5	A470T	Atrial fibrillation, familial, 7	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210224430.	NM_002234.4(KCNA5):c.535T>C (p.Tyr179His) GRCh37: Chr12:5153848 GRCh38: Chr12:5044682	KCNA5	Y179H	Atrial fibrillation, familial, 7	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209847331.	NM_002234.4(KCNA5):c.166G>T (p.Ala56Ser) GRCh37: Chr12:5153479 GRCh38: Chr12:5044313	KCNA5	A56S	Atrial fibrillation, familial, 7	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 208235832.	NM_002234.4(KCNA5):c.416C>T (p.Ala139Val) GRCh37: Chr12:5153729 GRCh38: Chr12:5044563	KCNA5	A139V	Atrial fibrillation, familial, 7	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 208124233.	NM_002234.4(KCNA5):c.269G>T (p.Arg90Leu) GRCh37: Chr12:5153582 GRCh38: Chr12:5044416	KCNA5	R90L	Atrial fibrillation, familial, 7	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 208058934.	NM_002234.4(KCNA5):c.426C>T (p.Pro142=) GRCh37: Chr12:5153739 GRCh38: Chr12:5044573	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 207535135.	NM_002234.4(KCNA5):c.244C>A (p.Pro82Thr) GRCh37: Chr12:5153557 GRCh38: Chr12:5044391	KCNA5	P82T	Atrial fibrillation, familial, 7	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 207066436.	NM_002234.4(KCNA5):c.234G>C (p.Leu78Phe) GRCh37: Chr12:5153547 GRCh38: Chr12:5044381	KCNA5	L78F	Atrial fibrillation, familial, 7	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 206092637.	NM_002234.4(KCNA5):c.148G>A (p.Ala50Thr) GRCh37: Chr12:5153461 GRCh38: Chr12:5044295	KCNA5	A50T	Atrial fibrillation, familial, 7	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 205772538.	NM_002234.4(KCNA5):c.1693A>C (p.Lys565Gln) GRCh37: Chr12:5155006 GRCh38: Chr12:5045840	KCNA5	K565Q	Atrial fibrillation, familial, 7	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 205005439.	NM_002234.4(KCNA5):c.1563C>T (p.Tyr521=) GRCh37: Chr12:5154876 GRCh38: Chr12:5045710	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 204943340.	NM_002234.4(KCNA5):c.1780G>A (p.Val594Met) GRCh37: Chr12:5155093 GRCh38: Chr12:5045927	KCNA5	V594M	Atrial fibrillation, familial, 7	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 204320941.	NM_002234.4(KCNA5):c.621C>T (p.Asp207=) GRCh37: Chr12:5153934 GRCh38: Chr12:5044768	KCNA5		Atrial fibrillation, familial, 7	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 204255742.	NM_002234.4(KCNA5):c.612G>A (p.Gln204=) GRCh37: Chr12:5153925 GRCh38: Chr12:5044759	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 203781743.	NM_002234.4(KCNA5):c.850C>T (p.His284Tyr) GRCh37: Chr12:5154163 GRCh38: Chr12:5044997	KCNA5	H284Y	Atrial fibrillation, familial, 7	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 201643044.	NM_002234.4(KCNA5):c.883G>T (p.Ala295Ser) GRCh37: Chr12:5154196 GRCh38: Chr12:5045030	KCNA5	A295S	Atrial fibrillation, familial, 7	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 199301245.	NM_002234.4(KCNA5):c.159G>C (p.Gly53=) GRCh37: Chr12:5153472 GRCh38: Chr12:5044306	KCNA5		Atrial fibrillation, familial, 7	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 199224546.	NM_002234.4(KCNA5):c.1641G>A (p.Gly547=) GRCh37: Chr12:5154954 GRCh38: Chr12:5045788	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 198978747.	NM_002234.4(KCNA5):c.475C>T (p.Leu159=) GRCh37: Chr12:5153788 GRCh38: Chr12:5044622	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 198806148.	NM_002234.4(KCNA5):c.582C>A (p.Asp194Glu) GRCh37: Chr12:5153895 GRCh38: Chr12:5044729	KCNA5	D194E	Atrial fibrillation, familial, 7	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 198747149.	NM_002234.4(KCNA5):c.217C>T (p.Pro73Ser) GRCh37: Chr12:5153530 GRCh38: Chr12:5044364	KCNA5	P73S	Atrial fibrillation, familial, 7	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 198656950.	NM_002234.4(KCNA5):c.420G>T (p.Gln140His) GRCh37: Chr12:5153733 GRCh38: Chr12:5044567	KCNA5	Q140H	Atrial fibrillation, familial, 7	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 198453251.	NM_002234.4(KCNA5):c.275C>G (p.Pro92Arg) GRCh37: Chr12:5153588 GRCh38: Chr12:5044422	KCNA5	P92R	Atrial fibrillation, familial, 7	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 196171652.	NM_002234.4(KCNA5):c.563C>G (p.Pro188Arg) GRCh37: Chr12:5153876 GRCh38: Chr12:5044710	KCNA5	P188R	Atrial fibrillation, familial, 7	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 196170953.	NM_002234.4(KCNA5):c.243G>T (p.Leu81=) GRCh37: Chr12:5153556 GRCh38: Chr12:5044390	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 195385954.	NM_002234.4(KCNA5):c.64G>A (p.Ala22Thr) GRCh37: Chr12:5153377 GRCh38: Chr12:5044211	KCNA5	A22T	Atrial fibrillation, familial, 7	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 195017355.	NM_002234.4(KCNA5):c.1078A>G (p.Ile360Val) GRCh37: Chr12:5154391 GRCh38: Chr12:5045225	KCNA5	I360V	Atrial fibrillation, familial, 7	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 194353256.	NM_002234.4(KCNA5):c.1471G>A (p.Val491Ile) GRCh37: Chr12:5154784 GRCh38: Chr12:5045618	KCNA5	V491I	Atrial fibrillation, familial, 7	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 194080057.	NM_002234.4(KCNA5):c.749G>A (p.Arg250Gln) GRCh37: Chr12:5154062 GRCh38: Chr12:5044896	KCNA5	R250Q	Atrial fibrillation, familial, 7	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 193992258.	NM_002234.4(KCNA5):c.909C>A (p.Val303=) GRCh37: Chr12:5154222 GRCh38: Chr12:5045056	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 192188859.	NM_002234.4(KCNA5):c.314G>T (p.Gly105Val) GRCh37: Chr12:5153627 GRCh38: Chr12:5044461	KCNA5	G105V	Atrial fibrillation, familial, 7	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 191983060.	NM_002234.4(KCNA5):c.95G>A (p.Gly32Glu) GRCh37: Chr12:5153408 GRCh38: Chr12:5044242	KCNA5	G32E	Atrial fibrillation, familial, 7	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 191317761.	NM_002234.4(KCNA5):c.67C>T (p.Arg23Trp) GRCh37: Chr12:5153380 GRCh38: Chr12:5044214	KCNA5	R23W	Atrial fibrillation, familial, 7	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 190256362.	NM_002234.4(KCNA5):c.941C>G (p.Pro314Arg) GRCh37: Chr12:5154254 GRCh38: Chr12:5045088	KCNA5	P314R	Atrial fibrillation, familial, 7	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 189606763.	NM_002234.4(KCNA5):c.254T>G (p.Leu85Arg) GRCh37: Chr12:5153567 GRCh38: Chr12:5044401	KCNA5	L85R	Atrial fibrillation, familial, 7	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 180595664.	NM_002234.4(KCNA5):c.646G>C (p.Asp216His) GRCh37: Chr12:5153959 GRCh38: Chr12:5044793	KCNA5	D216H	Atrial fibrillation, familial, 7	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 172137965.	NM_002234.4(KCNA5):c.1310T>C (p.Leu437Pro) GRCh37: Chr12:5154623 GRCh38: Chr12:5045457	KCNA5	L437P	Atrial fibrillation, familial, 7	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 169812866.	NM_002234.4(KCNA5):c.1210C>G (p.Leu404Val) GRCh37: Chr12:5154523 GRCh38: Chr12:5045357	KCNA5	L404V	not provided, Atrial fibrillation, familial, 7	Uncertain significance (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167982167.	NM_002234.4(KCNA5):c.1105_1112del (p.Phe369fs) GRCh37: Chr12:5154416-5154423 GRCh38: Chr12:5045250-5045257	KCNA5	F369fs	Atrial fibrillation, familial, 7	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 167757268.	NM_002234.4(KCNA5):c.1704dup (p.Thr569fs) GRCh37: Chr12:5155011-5155012 GRCh38: Chr12:5045845-5045846	KCNA5	T569fs	not provided, Atrial fibrillation, familial, 7	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167752569.	NM_002234.4(KCNA5):c.1081G>A (p.Asp361Asn) GRCh37: Chr12:5154394 GRCh38: Chr12:5045228	KCNA5	D361N	Atrial fibrillation, familial, 7, not provided	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166167470.	NM_002234.4(KCNA5):c.957C>T (p.Thr319=) GRCh37: Chr12:5154270 GRCh38: Chr12:5045104	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 165942171.	NM_002234.4(KCNA5):c.411C>G (p.Thr137=) GRCh37: Chr12:5153724 GRCh38: Chr12:5044558	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 163351572.	NM_002234.4(KCNA5):c.423C>T (p.Phe141=) GRCh37: Chr12:5153736 GRCh38: Chr12:5044570	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 163166773.	NM_002234.4(KCNA5):c.942G>A (p.Pro314=) GRCh37: Chr12:5154255 GRCh38: Chr12:5045089	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 162560074.	NM_002234.4(KCNA5):c.507G>T (p.Arg169=) GRCh37: Chr12:5153820 GRCh38: Chr12:5044654	KCNA5		Atrial fibrillation, familial, 7	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 161400075.	NM_002234.4(KCNA5):c.708G>A (p.Val236=) GRCh37: Chr12:5154021 GRCh38: Chr12:5044855	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 160967076.	NM_002234.4(KCNA5):c.678C>A (p.Pro226=) GRCh37: Chr12:5153991 GRCh38: Chr12:5044825	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Aug 7, 2021)	criteria provided, single submitter
Select item 160619177.	NM_002234.4(KCNA5):c.858G>A (p.Pro286=) GRCh37: Chr12:5154171 GRCh38: Chr12:5045005	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Sep 14, 2021)	criteria provided, single submitter
Select item 160070678.	NM_002234.4(KCNA5):c.471C>T (p.Asp157=) GRCh37: Chr12:5153784 GRCh38: Chr12:5044618	KCNA5		Atrial fibrillation, familial, 7	Benign (Jul 22, 2022)	criteria provided, single submitter
Select item 158755679.	NM_002234.4(KCNA5):c.744C>G (p.Ser248=) GRCh37: Chr12:5154057 GRCh38: Chr12:5044891	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Feb 23, 2021)	criteria provided, single submitter
Select item 158588580.	NM_002234.4(KCNA5):c.870G>A (p.Gln290=) GRCh37: Chr12:5154183 GRCh38: Chr12:5045017	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Feb 20, 2021)	criteria provided, single submitter
Select item 157183981.	NM_002234.4(KCNA5):c.741G>C (p.Gly247=) GRCh37: Chr12:5154054 GRCh38: Chr12:5044888	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Nov 13, 2020)	criteria provided, single submitter
Select item 157069382.	NM_002234.4(KCNA5):c.147G>C (p.Pro49=) GRCh37: Chr12:5153460 GRCh38: Chr12:5044294	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 156061283.	NM_002234.4(KCNA5):c.279C>G (p.Pro93=) GRCh37: Chr12:5153592 GRCh38: Chr12:5044426	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Jun 30, 2021)	criteria provided, single submitter
Select item 154665884.	NM_002234.4(KCNA5):c.1545C>T (p.Ile515=) GRCh37: Chr12:5154858 GRCh38: Chr12:5045692	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 153960385.	NM_002234.4(KCNA5):c.792C>T (p.Ile264=) GRCh37: Chr12:5154105 GRCh38: Chr12:5044939	KCNA5		Atrial fibrillation, familial, 7	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 152836086.	NM_002234.4(KCNA5):c.1218G>A (p.Arg406=) GRCh37: Chr12:5154531 GRCh38: Chr12:5045365	KCNA5		Atrial fibrillation, familial, 7	Likely benign (May 19, 2021)	criteria provided, single submitter
Select item 152373787.	NM_002234.4(KCNA5):c.30CGG[3] (p.Gly12dup) GRCh37: Chr12:5153342-5153343 GRCh38: Chr12:5044176-5044177	KCNA5		Atrial fibrillation, familial, 7	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 152214388.	NM_002234.4(KCNA5):c.857C>T (p.Pro286Leu) GRCh37: Chr12:5154170 GRCh38: Chr12:5045004	KCNA5	P286L	Atrial fibrillation, familial, 7	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 151843189.	NM_002234.4(KCNA5):c.41T>G (p.Met14Arg) GRCh37: Chr12:5153354 GRCh38: Chr12:5044188	KCNA5	M14R	Atrial fibrillation, familial, 7, Inborn genetic diseases	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151771290.	NM_002234.4(KCNA5):c.398C>A (p.Thr133Lys) GRCh37: Chr12:5153711 GRCh38: Chr12:5044545	KCNA5	T133K	not provided, Atrial fibrillation, familial, 7	Uncertain significance (Dec 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151515791.	NM_002234.4(KCNA5):c.442G>C (p.Asp148His) GRCh37: Chr12:5153755 GRCh38: Chr12:5044589	KCNA5	D148H	Atrial fibrillation, familial, 7	Uncertain significance (Oct 11, 2021)	criteria provided, single submitter
Select item 150961292.	NM_002234.4(KCNA5):c.641G>A (p.Arg214His) GRCh37: Chr12:5153954 GRCh38: Chr12:5044788	KCNA5	R214H	Atrial fibrillation, familial, 7	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 150618493.	NM_002234.4(KCNA5):c.35G>A (p.Gly12Asp) GRCh37: Chr12:5153348 GRCh38: Chr12:5044182	KCNA5	G12D	Atrial fibrillation, familial, 7	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 150327194.	NM_002234.4(KCNA5):c.1501G>A (p.Ala501Thr) GRCh37: Chr12:5154814 GRCh38: Chr12:5045648	KCNA5	A501T	Atrial fibrillation, familial, 7	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150291395.	NM_002234.4(KCNA5):c.569A>G (p.Asn190Ser) GRCh37: Chr12:5153882 GRCh38: Chr12:5044716	KCNA5	N190S	Atrial fibrillation, familial, 7	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 150188496.	NM_002234.4(KCNA5):c.1744C>A (p.Pro582Thr) GRCh37: Chr12:5155057 GRCh38: Chr12:5045891	KCNA5	P582T	Atrial fibrillation, familial, 7	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150005997.	NM_002234.4(KCNA5):c.795C>G (p.Ile265Met) GRCh37: Chr12:5154108 GRCh38: Chr12:5044942	KCNA5	I265M	Atrial fibrillation, familial, 7	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149326498.	NM_002234.4(KCNA5):c.1198C>G (p.Arg400Gly) GRCh37: Chr12:5154511 GRCh38: Chr12:5045345	KCNA5	R400G	Atrial fibrillation, familial, 7	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 149263599.	NM_002234.4(KCNA5):c.690C>G (p.Asn230Lys) GRCh37: Chr12:5154003 GRCh38: Chr12:5044837	KCNA5	N230K	Atrial fibrillation, familial, 7	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 1482068100.	NM_002234.4(KCNA5):c.1576G>C (p.Glu526Gln) GRCh37: Chr12:5154889 GRCh38: Chr12:5045723	KCNA5	E526Q	Atrial fibrillation, familial, 7	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter

<< First< Prev

Page of 4