ClinVar for MedGen (Select 394252) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 111

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24255201.	NC_000001.10:g.(?_10698999)_(11907741_?)dup GRCh37: Chr1:10698999-11907741	CLCN6, MTOR, NPPA, SRM, FBXO44, UBIAD1, TARDBP, AGTRAP, CASZ1, MASP2, FBXO6, MAD2L2, MTHFR, DRAXIN, EXOSC10, C1orf127, ANGPTL7, DISP3, C1orf167, FBXO2		Atrial fibrillation, familial, 6	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 24140202.	NM_006172.4(NPPA):c.102C>T (p.Asn34=) GRCh37: Chr1:11907640 GRCh38: Chr1:11847583	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Oct 14, 2020)	criteria provided, single submitter
Select item 21925023.	NM_006172.4(NPPA):c.210G>A (p.Ala70=) GRCh37: Chr1:11907410 GRCh38: Chr1:11847353	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 21796684.	NM_006172.4(NPPA):c.451-16T>C GRCh37: Chr1:11906087 GRCh38: Chr1:11846030	NPPA-AS1, NPPA		Atrial fibrillation, familial, 6	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 21766865.	NM_006172.4(NPPA):c.124-28_124-19del GRCh37: Chr1:11907515-11907524 GRCh38: Chr1:11847458-11847467	NPPA-AS1, NPPA, LOC114827827		Atrial fibrillation, familial, 6	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 21601776.	NM_006172.4(NPPA):c.179C>G (p.Pro60Arg) GRCh37: Chr1:11907441 GRCh38: Chr1:11847384	LOC114827827, NPPA-AS1, NPPA	P60R	Atrial fibrillation, familial, 6	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 21596147.	NM_006172.4(NPPA):c.336A>G (p.Lys112=) GRCh37: Chr1:11907284 GRCh38: Chr1:11847227	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 21562828.	NM_006172.4(NPPA):c.363C>T (p.Ala121=) GRCh37: Chr1:11907257 GRCh38: Chr1:11847200	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 21511379.	NM_006172.4(NPPA):c.196C>A (p.Pro66Thr) GRCh37: Chr1:11907424 GRCh38: Chr1:11847367	NPPA-AS1, LOC114827827, NPPA	P66T	Atrial fibrillation, familial, 6	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 214498910.	NM_006172.4(NPPA):c.450+16del GRCh37: Chr1:11907154 GRCh38: Chr1:11847097	NPPA-AS1, LOC114827827, NPPA		Atrial fibrillation, familial, 6	Benign (Mar 3, 2022)	criteria provided, single submitter
Select item 213633411.	NM_006172.4(NPPA):c.229del (p.Leu77fs) GRCh37: Chr1:11907391 GRCh38: Chr1:11847334	NPPA-AS1, LOC114827827, NPPA	L77fs	Atrial fibrillation, familial, 6	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 213328912.	NM_006172.4(NPPA):c.45G>T (p.Leu15=) GRCh37: Chr1:11907697 GRCh38: Chr1:11847640	LOC114827827, NPPA		Atrial fibrillation, familial, 6	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 211594013.	NM_006172.4(NPPA):c.305G>A (p.Trp102Ter) GRCh37: Chr1:11907315 GRCh38: Chr1:11847258	NPPA-AS1, NPPA, LOC114827827	W102*	Atrial fibrillation, familial, 6	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 210702414.	NM_006172.4(NPPA):c.329T>C (p.Leu110Pro) GRCh37: Chr1:11907291 GRCh38: Chr1:11847234	LOC114827827, NPPA, NPPA-AS1	L110P	Atrial fibrillation, familial, 6	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 206305415.	NM_006172.4(NPPA):c.124-12C>T GRCh37: Chr1:11907508 GRCh38: Chr1:11847451	NPPA, NPPA-AS1, LOC114827827		Atrial fibrillation, familial, 6	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 204656616.	NM_006172.4(NPPA):c.320G>C (p.Arg107Pro) GRCh37: Chr1:11907300 GRCh38: Chr1:11847243	NPPA, NPPA-AS1, LOC114827827	R107P	Atrial fibrillation, familial, 6	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 204222217.	NM_006172.4(NPPA):c.165T>G (p.Asp55Glu) GRCh37: Chr1:11907455 GRCh38: Chr1:11847398	LOC114827827, NPPA, NPPA-AS1	D55E	Atrial fibrillation, familial, 6	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 197922818.	NM_006172.4(NPPA):c.320G>T (p.Arg107Leu) GRCh37: Chr1:11907300 GRCh38: Chr1:11847243	NPPA, LOC114827827, NPPA-AS1	R107L	Atrial fibrillation, familial, 6	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 197367619.	NM_006172.4(NPPA):c.159AGA[1] (p.Glu54del) GRCh37: Chr1:11907456-11907458 GRCh38: Chr1:11847399-11847401	NPPA, NPPA-AS1, LOC114827827	E54del	Atrial fibrillation, familial, 6	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 196397220.	NM_006172.4(NPPA):c.114G>A (p.Met38Ile) GRCh37: Chr1:11907628 GRCh38: Chr1:11847571	LOC114827827, NPPA-AS1, NPPA	M38I	Atrial fibrillation, familial, 6	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 193655221.	NM_006172.4(NPPA):c.281G>T (p.Gly94Val) GRCh37: Chr1:11907339 GRCh38: Chr1:11847282	LOC114827827, NPPA, NPPA-AS1	G94V	Atrial fibrillation, familial, 6	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 193634922.	NM_006172.4(NPPA):c.13T>A (p.Ser5Thr) GRCh37: Chr1:11907729 GRCh38: Chr1:11847672	NPPA, LOC114827827	S5T	Atrial fibrillation, familial, 6	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 193474123.	NM_006172.4(NPPA):c.250A>C (p.Thr84Pro) GRCh37: Chr1:11907370 GRCh38: Chr1:11847313	NPPA-AS1, NPPA, LOC114827827	T84P	Atrial fibrillation, familial, 6	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 191090524.	NM_006172.4(NPPA):c.123+17G>A GRCh37: Chr1:11907602 GRCh38: Chr1:11847545	NPPA-AS1, LOC114827827, NPPA		Atrial fibrillation, familial, 6	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 158756125.	NM_006172.4(NPPA):c.124-20T>C GRCh37: Chr1:11907516 GRCh38: Chr1:11847459	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 158683126.	NM_006172.4(NPPA):c.291C>T (p.Leu97=) GRCh37: Chr1:11907329 GRCh38: Chr1:11847272	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Jun 29, 2021)	criteria provided, single submitter
Select item 157983927.	NM_006172.4(NPPA):c.165T>C (p.Asp55=) GRCh37: Chr1:11907455 GRCh38: Chr1:11847398	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 154948428.	NM_006172.4(NPPA):c.351G>A (p.Ala117=) GRCh37: Chr1:11907269 GRCh38: Chr1:11847212	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Jun 4, 2021)	criteria provided, single submitter
Select item 151842529.	NM_006172.4(NPPA):c.13T>C (p.Ser5Pro) GRCh37: Chr1:11907729 GRCh38: Chr1:11847672	LOC114827827, NPPA	S5P	Atrial fibrillation, familial, 6	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 151708030.	NM_006172.4(NPPA):c.358A>G (p.Thr120Ala) GRCh37: Chr1:11907262 GRCh38: Chr1:11847205	LOC114827827, NPPA, NPPA-AS1	T120A	Atrial fibrillation, familial, 6	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 150052331.	NM_006172.4(NPPA):c.224G>A (p.Ser75Asn) GRCh37: Chr1:11907396 GRCh38: Chr1:11847339	NPPA-AS1, NPPA, LOC114827827	S75N	Atrial fibrillation, familial, 6	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 146383632.	NM_006172.4(NPPA):c.187C>A (p.Leu63Ile) GRCh37: Chr1:11907433 GRCh38: Chr1:11847376	NPPA-AS1, NPPA, LOC114827827	L63I	Atrial fibrillation, familial, 6	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 146070733.	NM_006172.4(NPPA):c.454_455inv (p.Ter152Gln) GRCh37: Chr1:11906067-11906068 GRCh38: Chr1:11846010-11846011	NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 144692734.	NM_006172.4(NPPA):c.372C>A (p.Ser124Arg) GRCh37: Chr1:11907248 GRCh38: Chr1:11847191	LOC114827827, NPPA, NPPA-AS1	S124R	Atrial fibrillation, familial, 6	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 144170735.	NM_006172.4(NPPA):c.393C>A (p.Phe131Leu) GRCh37: Chr1:11907227 GRCh38: Chr1:11847170	LOC114827827, NPPA, NPPA-AS1	F131L	Atrial fibrillation, familial, 6	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143768636.	NM_006172.4(NPPA):c.49T>C (p.Phe17Leu) GRCh37: Chr1:11907693 GRCh38: Chr1:11847636	LOC114827827, NPPA	F17L	Atrial fibrillation, familial, 6	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 142806837.	NM_006172.4(NPPA):c.123G>C (p.Lys41Asn) GRCh37: Chr1:11907619 GRCh38: Chr1:11847562	LOC114827827, NPPA, NPPA-AS1	K41N	Atrial fibrillation, familial, 6	Uncertain significance (Sep 19, 2021)	criteria provided, single submitter
Select item 142680638.	NM_006172.4(NPPA):c.225C>A (p.Ser75Arg) GRCh37: Chr1:11907395 GRCh38: Chr1:11847338	LOC114827827, NPPA, NPPA-AS1	S75R	Atrial fibrillation, familial, 6	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 142637239.	NM_006172.4(NPPA):c.376C>T (p.Arg126Trp) GRCh37: Chr1:11907244 GRCh38: Chr1:11847187	NPPA, NPPA-AS1, LOC114827827	R126W	Atrial fibrillation, familial, 6	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 141775240.	NM_006172.4(NPPA):c.123+17G>C GRCh37: Chr1:11907602 GRCh38: Chr1:11847545	NPPA-AS1, NPPA, LOC114827827		Atrial fibrillation, familial, 6	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 140834641.	NM_006172.4(NPPA):c.209C>T (p.Ala70Val) GRCh37: Chr1:11907411 GRCh38: Chr1:11847354	LOC114827827, NPPA, NPPA-AS1	A70V	Atrial fibrillation, familial, 6	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 140646042.	NM_006172.4(NPPA):c.61G>A (p.Gly21Ser) GRCh37: Chr1:11907681 GRCh38: Chr1:11847624	LOC114827827, NPPA	G21S	Atrial fibrillation, familial, 6	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 139989743.	NM_006172.4(NPPA):c.113T>G (p.Met38Arg) GRCh37: Chr1:11907629 GRCh38: Chr1:11847572	LOC114827827, NPPA, NPPA-AS1	M38R	Atrial fibrillation, familial, 6	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 137647844.	NM_006172.4(NPPA):c.320G>A (p.Arg107Gln) GRCh37: Chr1:11907300 GRCh38: Chr1:11847243	LOC114827827, NPPA, NPPA-AS1	R107Q	Atrial fibrillation, familial, 6	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 137624445.	NM_006172.4(NPPA):c.209C>G (p.Ala70Gly) GRCh37: Chr1:11907411 GRCh38: Chr1:11847354	LOC114827827, NPPA, NPPA-AS1	A70G	Atrial fibrillation, familial, 6	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 137600546.	NM_006172.4(NPPA):c.347G>A (p.Arg116Lys) GRCh37: Chr1:11907273 GRCh38: Chr1:11847216	LOC114827827, NPPA, NPPA-AS1	R116K	Atrial fibrillation, familial, 6	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 136679047.	NM_006172.4(NPPA):c.13_15del (p.Ser5del) GRCh37: Chr1:11907727-11907729 GRCh38: Chr1:11847670-11847672	NPPA, LOC114827827	S5del	Atrial fibrillation, familial, 6	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 136286448.	NM_006172.4(NPPA):c.134A>G (p.Asp45Gly) GRCh37: Chr1:11907486 GRCh38: Chr1:11847429	LOC114827827, NPPA, NPPA-AS1	D45G	Atrial fibrillation, familial, 6	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 135690449.	NM_006172.4(NPPA):c.413T>C (p.Ile138Thr) GRCh37: Chr1:11907207 GRCh38: Chr1:11847150	LOC114827827, NPPA, NPPA-AS1	I138T	Atrial fibrillation, familial, 6	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 134666050.	NM_006172.4(NPPA):c.242C>G (p.Pro81Arg) GRCh37: Chr1:11907378 GRCh38: Chr1:11847321	LOC114827827, NPPA, NPPA-AS1	P81R	Atrial fibrillation, familial, 6	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 116999551.	NM_006172.4(NPPA):c.94G>A (p.Val32Met) GRCh37: Chr1:11907648 GRCh38: Chr1:11847591	NPPA, NPPA-AS1, LOC114827827	V32M	not provided, Atrial fibrillation, familial, 6	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114749052.	NM_006172.4(NPPA):c.9C>A (p.Ser3=) GRCh37: Chr1:11907733 GRCh38: Chr1:11847676	LOC114827827, NPPA		Atrial fibrillation, familial, 6	Likely benign (May 3, 2019)	criteria provided, single submitter
Select item 113632953.	NM_006172.4(NPPA):c.390C>T (p.Cys130=) GRCh37: Chr1:11907230 GRCh38: Chr1:11847173	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Mar 18, 2020)	criteria provided, single submitter
Select item 113014754.	NM_006172.4(NPPA):c.451-4G>T GRCh37: Chr1:11906075 GRCh38: Chr1:11846018	NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Sep 17, 2020)	criteria provided, single submitter
Select item 112653555.	NM_006172.4(NPPA):c.111G>C (p.Leu37=) GRCh37: Chr1:11907631 GRCh38: Chr1:11847574	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 112418556.	NM_006172.4(NPPA):c.93C>A (p.Ala31=) GRCh37: Chr1:11907649 GRCh38: Chr1:11847592	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 111799657.	NM_006172.4(NPPA):c.93C>T (p.Ala31=) GRCh37: Chr1:11907649 GRCh38: Chr1:11847592	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 110743758.	NM_006172.4(NPPA):c.451-9T>G GRCh37: Chr1:11906080 GRCh38: Chr1:11846023	NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Feb 24, 2020)	criteria provided, single submitter
Select item 110214659.	NM_006172.4(NPPA):c.264C>T (p.Ser88=) GRCh37: Chr1:11907356 GRCh38: Chr1:11847299	NPPA-AS1, LOC114827827, NPPA		Atrial fibrillation, familial, 6	Likely benign (Jun 13, 2019)	criteria provided, single submitter
Select item 110062060.	NM_006172.4(NPPA):c.124-7T>C GRCh37: Chr1:11907503 GRCh38: Chr1:11847446	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 109727261.	NM_006172.4(NPPA):c.393C>T (p.Phe131=) GRCh37: Chr1:11907227 GRCh38: Chr1:11847170	NPPA, NPPA-AS1, LOC114827827		Atrial fibrillation, familial, 6	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 108082462.	NM_006172.4(NPPA):c.375G>A (p.Leu125=) GRCh37: Chr1:11907245 GRCh38: Chr1:11847188	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6, Atrial standstill 2, Atrial fibrillation, familial, 6	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107724063.	NM_006172.4(NPPA):c.255G>A (p.Gly85=) GRCh37: Chr1:11907365 GRCh38: Chr1:11847308	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Feb 17, 2020)	criteria provided, single submitter
Select item 106249064.	NM_006172.4(NPPA):c.149A>T (p.Lys50Met) GRCh37: Chr1:11907471 GRCh38: Chr1:11847414	LOC114827827, NPPA, NPPA-AS1	K50M	Atrial fibrillation, familial, 6	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 106154065.	NM_006172.4(NPPA):c.338G>C (p.Ser113Thr) GRCh37: Chr1:11907282 GRCh38: Chr1:11847225	LOC114827827, NPPA, NPPA-AS1	S113T	Atrial fibrillation, familial, 6	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 103599166.	NM_006172.4(NPPA):c.59T>C (p.Leu20Pro) GRCh37: Chr1:11907683 GRCh38: Chr1:11847626	LOC114827827, NPPA	L20P	Atrial fibrillation, familial, 6	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 102542967.	NM_006172.4(NPPA):c.154C>T (p.Pro52Ser) GRCh37: Chr1:11907466 GRCh38: Chr1:11847409	LOC114827827, NPPA, NPPA-AS1	P52S	Atrial fibrillation, familial, 6	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 101164768.	NM_006172.4(NPPA):c.19A>G (p.Thr7Ala) GRCh37: Chr1:11907723 GRCh38: Chr1:11847666	LOC114827827, NPPA	T7A	Atrial fibrillation, familial, 6	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 99884969.	NM_006172.4(NPPA):c.316G>C (p.Asp106His) GRCh37: Chr1:11907304 GRCh38: Chr1:11847247	LOC114827827, NPPA, NPPA-AS1	D106H	Atrial fibrillation, familial, 6	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 96736470.	NM_006172.4(NPPA):c.337A>G (p.Ser113Gly) GRCh37: Chr1:11907283 GRCh38: Chr1:11847226	LOC114827827, NPPA, NPPA-AS1	S113G	Atrial fibrillation, familial, 6	Uncertain significance (Nov 21, 2019)	criteria provided, single submitter
Select item 94853571.	NM_006172.4(NPPA):c.319C>T (p.Arg107Ter) GRCh37: Chr1:11907301 GRCh38: Chr1:11847244	LOC114827827, NPPA, NPPA-AS1	R107*	Atrial fibrillation, familial, 6, Atrial standstill 2, Atrial fibrillation, familial, 6	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94417072.	NM_006172.4(NPPA):c.25G>A (p.Val9Met) GRCh37: Chr1:11907717 GRCh38: Chr1:11847660	LOC114827827, NPPA	V9M	Atrial fibrillation, familial, 6, Atrial standstill 2, Atrial fibrillation, familial, 6	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93859673.	NM_006172.4(NPPA):c.103G>A (p.Ala35Thr) GRCh37: Chr1:11907639 GRCh38: Chr1:11847582	LOC114827827, NPPA, NPPA-AS1	A35T	Atrial fibrillation, familial, 6	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 93641574.	NM_006172.4(NPPA):c.368G>A (p.Arg123Gln) GRCh37: Chr1:11907252 GRCh38: Chr1:11847195	LOC114827827, NPPA, NPPA-AS1	R123Q	Atrial fibrillation, familial, 6	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 91771975.	NM_006172.4(NPPA):c.426C>T (p.Ser142=) GRCh37: Chr1:11907194 GRCh38: Chr1:11847137	LOC114827827, NPPA, NPPA-AS1		not specified, Atrial fibrillation, familial, 6	Likely benign (Jan 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87294976.	NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) GRCh37: Chr1:11907243 GRCh38: Chr1:11847186	LOC114827827, NPPA, NPPA-AS1	R126Q	Atrial fibrillation, familial, 6	Uncertain significance (Oct 15, 2022)	criteria provided, single submitter
Select item 85721977.	NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) GRCh37: Chr1:11907624 GRCh38: Chr1:11847567	LOC114827827, NPPA, NPPA-AS1	F40L	Atrial fibrillation, familial, 6	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84221978.	NM_006172.4(NPPA):c.16ACC[2] (p.Thr8del) GRCh37: Chr1:11907718-11907720 GRCh38: Chr1:11847661-11847663	LOC114827827, NPPA	T8del	Atrial fibrillation, familial, 6	Uncertain significance (Oct 23, 2021)	criteria provided, single submitter
Select item 84019579.	NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) GRCh37: Chr1:11907266-11907274 GRCh38: Chr1:11847209-11847217	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Uncertain significance (Jun 11, 2019)	criteria provided, single submitter
Select item 83640380.	NM_006172.4(NPPA):c.89A>G (p.Asn30Ser) GRCh37: Chr1:11907653 GRCh38: Chr1:11847596	LOC114827827, NPPA, NPPA-AS1	N30S	Atrial fibrillation, familial, 6	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 83084181.	NC_000001.11:g.(?_11012634)_(11934865_?)del GRCh37: Chr1:11072691-11994922	DISP3, AGTRAP, ANGPTL7, C1orf167, CLCN6, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, KIAA2013, MAD2L2, MASP2, MTHFR, MTOR, NPPA, NPPB, PLOD1, SRM, TARDBP, UBIAD1		Atrial fibrillation, familial, 6	Uncertain significance (Jul 30, 2019)	criteria provided, single submitter
Select item 77253082.	NM_006172.4(NPPA):c.24C>T (p.Thr8=) GRCh37: Chr1:11907718 GRCh38: Chr1:11847661	LOC114827827, NPPA		Atrial fibrillation, familial, 6	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 65217183.	NM_006172.4(NPPA):c.367C>A (p.Arg123=) GRCh37: Chr1:11907253 GRCh38: Chr1:11847196	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 64451484.	NM_006172.4(NPPA):c.112A>G (p.Met38Val) GRCh37: Chr1:11907630 GRCh38: Chr1:11847573	LOC114827827, NPPA, NPPA-AS1	M38V	Atrial fibrillation, familial, 6	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 64325285.	NM_006172.4(NPPA):c.350C>T (p.Ala117Val) GRCh37: Chr1:11907270 GRCh38: Chr1:11847213	LOC114827827, NPPA, NPPA-AS1	A117V	Atrial fibrillation, familial, 6	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 64237086.	NM_006172.4(NPPA):c.208G>T (p.Ala70Ser) GRCh37: Chr1:11907412 GRCh38: Chr1:11847355	LOC114827827, NPPA, NPPA-AS1	A70S	Atrial fibrillation, familial, 6	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 58061887.	NM_006172.4(NPPA):c.85T>C (p.Tyr29His) GRCh37: Chr1:11907657 GRCh38: Chr1:11847600	NPPA-AS1, NPPA, LOC114827827	Y29H	Atrial fibrillation, familial, 6	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 57829088.	NM_006172.4(NPPA):c.352C>A (p.Leu118Met) GRCh37: Chr1:11907268 GRCh38: Chr1:11847211	LOC114827827, NPPA, NPPA-AS1	L118M	not specified, Atrial fibrillation, familial, 6	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57457589.	NM_006172.4(NPPA):c.370A>G (p.Ser124Gly) GRCh37: Chr1:11907250 GRCh38: Chr1:11847193	NPPA-AS1, LOC114827827, NPPA	S124G	Atrial fibrillation, familial, 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 57331990.	NM_006172.4(NPPA):c.219_227del (p.Ser75_Leu77del) GRCh37: Chr1:11907393-11907401 GRCh38: Chr1:11847336-11847344	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 53732291.	NM_006172.4(NPPA):c.277_278del (p.Asp93fs) GRCh37: Chr1:11907342-11907343 GRCh38: Chr1:11847285-11847286	LOC114827827, NPPA, NPPA-AS1	D93fs	Atrial fibrillation, familial, 6	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 53732192.	NM_006172.4(NPPA):c.176C>T (p.Pro59Leu) GRCh37: Chr1:11907444 GRCh38: Chr1:11847387	LOC114827827, NPPA, NPPA-AS1	P59L	Atrial fibrillation, familial, 6	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 53732093.	NM_006172.4(NPPA):c.23C>T (p.Thr8Ile) GRCh37: Chr1:11907719 GRCh38: Chr1:11847662	LOC114827827, NPPA	T8I	Atrial fibrillation, familial, 6	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 46960894.	NM_006172.4(NPPA):c.425G>A (p.Ser142Asn) GRCh37: Chr1:11907195 GRCh38: Chr1:11847138	LOC114827827, NPPA, NPPA-AS1	S142N	Atrial fibrillation, familial, 6	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 46960795.	NM_006172.4(NPPA):c.272A>G (p.Gln91Arg) GRCh37: Chr1:11907348 GRCh38: Chr1:11847291	LOC114827827, NPPA, NPPA-AS1	Q91R	Atrial fibrillation, familial, 6, not specified	Benign/Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46960696.	NM_006172.4(NPPA):c.198G>A (p.Pro66=) GRCh37: Chr1:11907422 GRCh38: Chr1:11847365	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 46960597.	NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) GRCh37: Chr1:11907423 GRCh38: Chr1:11847366	NPPA-AS1, LOC114827827, NPPA	P66L	Atrial fibrillation, familial, 6, Atrial fibrillation, familial, 6, Atrial standstill 2	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46960498.	NM_006172.4(NPPA):c.171C>T (p.Val57=) GRCh37: Chr1:11907449 GRCh38: Chr1:11847392	LOC114827827, NPPA, NPPA-AS1		Atrial fibrillation, familial, 6	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 43282399.	NM_006172.4(NPPA):c.206A>C (p.Glu69Ala) GRCh37: Chr1:11907414 GRCh38: Chr1:11847357	NPPA-AS1, LOC114827827, NPPA	E69A	Atrial fibrillation, familial, 6, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 415936100.	NM_006172.4(NPPA):c.292G>A (p.Gly98Arg) GRCh37: Chr1:11907328 GRCh38: Chr1:11847271	NPPA-AS1, NPPA, LOC114827827	G98R	Atrial fibrillation, familial, 6	Likely benign (Nov 1, 2022)	criteria provided, single submitter

<< First< Prev

Page of 2