ClinVar for MedGen (Select 222975) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24276361.	NC_000003.11:g.(?_38591812)_(38674798_?)dup GRCh37: Chr3:38591812-38674798	SCN5A		Brugada syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 24276352.	NC_000003.11:g.(?_38591812)_(38593069_?)del GRCh37: Chr3:38591812-38593069	SCN5A		Brugada syndrome	Likely pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 24276343.	NC_000003.11:g.(?_38606513)_(38627513_?)del GRCh37: Chr3:38606513-38627513	SCN5A		Brugada syndrome	Pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 24276334.	NC_000003.11:g.(?_38647422)_(38648321_?)del GRCh37: Chr3:38647422-38648321	SCN5A		Brugada syndrome	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 24276325.	NC_000003.11:g.(?_38627162)_(38627552_?)del GRCh37: Chr3:38627162-38627552	SCN5A		Brugada syndrome	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 24257916.	NC_000023.10:g.(?_108867821)_(108868249_?)del GRCh37: ChrX:108867821-108868249	KCNE5		Brugada syndrome	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 24256907.	NC_000003.11:g.(?_57743379)_(57817277_?)dup GRCh37: Chr3:57743379-57817277	SLMAP		Brugada syndrome	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 24256018.	NC_000003.11:g.(?_38495814)_(38991853_?)dup GRCh37: Chr3:38495814-38991853	ACVR2B, EXOG, SCN10A, SCN11A, SCN5A		Brugada syndrome	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 24256009.	NC_000003.11:g.(?_38738840)_(38753956_?)del GRCh37: Chr3:38738840-38753956	SCN10A		Brugada syndrome	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 242525110.	NC_000012.11:g.(?_21918657)_(22017431_?)dup GRCh37: Chr12:21918657-22017431	ABCC9, KCNJ8		Dilated cardiomyopathy 1O, Brugada syndrome	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 242338211.	NC_000007.13:g.(?_81978864)_(82072775_?)dup GRCh37: Chr7:81978864-82072775	CACNA2D1		Brugada syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 242338112.	NC_000007.13:g.(?_81964431)_(81978985_?)dup GRCh37: Chr7:81964431-81978985	CACNA2D1		Brugada syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 242338013.	NC_000007.13:g.(?_82072661)_(82072775_?)dup GRCh37: Chr7:82072661-82072775	CACNA2D1		Brugada syndrome	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 242337914.	NC_000007.13:g.(?_81964431)_(81978985_?)del GRCh37: Chr7:81964431-81978985	CACNA2D1		Brugada syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 242207215.	NM_000335.5(SCN5A):c.2568G>A (p.Val856=) GRCh37: Chr3:38627401 GRCh38: Chr3:38585910	SCN5A		Brugada syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 242206816.	NM_000722.4(CACNA2D1):c.62C>T (p.Pro21Leu) GRCh37: Chr7:82072714 GRCh38: Chr7:82443398	CACNA2D1	P21L	Brugada syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 242175017.	NM_000335.5(SCN5A):c.1338+14G>A GRCh37: Chr3:38647428 GRCh38: Chr3:38605937	SCN5A		Brugada syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 242132118.	NM_000335.5(SCN5A):c.180C>G (p.Ala60=) GRCh37: Chr3:38674619 GRCh38: Chr3:38633128	SCN5A		Brugada syndrome	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 242104419.	NM_000335.5(SCN5A):c.2262+12C>T GRCh37: Chr3:38639208 GRCh38: Chr3:38597717	SCN5A		Brugada syndrome	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 242037120.	NM_006514.4(SCN10A):c.1625G>A (p.Gly542Asp) GRCh37: Chr3:38793840 GRCh38: Chr3:38752349	SCN10A	G542D	Brugada syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 241989421.	NM_001377540.1(SLMAP):c.878A>G (p.Asn293Ser) GRCh37: Chr3:57847725 GRCh38: Chr3:57861998	SLMAP	N293S	Brugada syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 241985222.	NM_001377540.1(SLMAP):c.1700-12A>G GRCh37: Chr3:57898096 GRCh38: Chr3:57912369	SLMAP		Brugada syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 241982923.	NM_004982.4(KCNJ8):c.31G>T (p.Glu11Ter) GRCh37: Chr12:21926520 GRCh38: Chr12:21773586	KCNJ8		Brugada syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 241956624.	NM_006514.4(SCN10A):c.574C>A (p.Leu192Met) GRCh37: Chr3:38812795 GRCh38: Chr3:38771304	SCN10A	L192M	Brugada syndrome	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 241928725.	NM_012282.4(KCNE5):c.100C>T (p.Arg34Cys) GRCh37: ChrX:108868150 GRCh38: ChrX:109624921	KCNE5	R34C	Brugada syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 241883326.	NM_001377540.1(SLMAP):c.*7-17G>C GRCh37: Chr3:57913006 GRCh38: Chr3:57927279	SLMAP		Brugada syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 241821027.	NM_000335.5(SCN5A):c.2443G>A (p.Val815Ile) GRCh37: Chr3:38627526 GRCh38: Chr3:38586035	SCN5A	V815I	Brugada syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 241815228.	NM_006514.4(SCN10A):c.1461+14del GRCh37: Chr3:38797265 GRCh38: Chr3:38755774	SCN10A		Brugada syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 241809429.	NM_006514.4(SCN10A):c.226G>A (p.Gly76Arg) GRCh37: Chr3:38835276 GRCh38: Chr3:38793785	SCN10A	G76R	Brugada syndrome	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 241714730.	NM_001377540.1(SLMAP):c.*96A>G GRCh37: Chr3:57913112 GRCh38: Chr3:57927385	SLMAP		Brugada syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 241671231.	NM_001377540.1(SLMAP):c.2139-16A>G GRCh37: Chr3:57902617 GRCh38: Chr3:57916890	SLMAP		Brugada syndrome	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 241650732.	NM_015141.4(GPD1L):c.225+20T>A GRCh37: Chr3:32169765 GRCh38: Chr3:32128273	GPD1L		Brugada syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 241578033.	NM_001377540.1(SLMAP):c.1084G>T (p.Ala362Ser) GRCh37: Chr3:57850392 GRCh38: Chr3:57864665	SLMAP	A362S	Brugada syndrome	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 241552534.	NM_000722.4(CACNA2D1):c.1735A>C (p.Arg579=) GRCh37: Chr7:81620562 GRCh38: Chr7:81991246	CACNA2D1		Brugada syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 241532935.	NM_000335.5(SCN5A):c.3131C>T (p.Pro1044Leu) GRCh37: Chr3:38622519 GRCh38: Chr3:38581028	LOC110121269, SCN5A	P1044L	Brugada syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 241451236.	NM_006514.4(SCN10A):c.562C>T (p.Pro188Ser) GRCh37: Chr3:38812807 GRCh38: Chr3:38771316	SCN10A	P188S	Cardiovascular phenotype, Brugada syndrome	Uncertain significance (Aug 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241451137.	NM_000722.4(CACNA2D1):c.1273-9del GRCh37: Chr7:81641568 GRCh38: Chr7:82012252	CACNA2D1, CACNA2D1-AS1		Brugada syndrome	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 241382638.	NM_006514.4(SCN10A):c.5863G>A (p.Gly1955Arg) GRCh37: Chr3:38738848 GRCh38: Chr3:38697357	SCN10A	G1955R, G1954R, G1857R	Brugada syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 241350839.	NM_000335.5(SCN5A):c.5382T>C (p.Tyr1794=) GRCh37: Chr3:38592478 GRCh38: Chr3:38550987	SCN5A		Brugada syndrome	Likely benign (Nov 9, 2021)	criteria provided, single submitter
Select item 220334340.	NM_006514.4(SCN10A):c.1162C>A (p.Leu388Met) GRCh37: Chr3:38798293 GRCh38: Chr3:38756802	SCN10A	L388M	Brugada syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 220334141.	NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro) GRCh37: Chr3:38655263 GRCh38: Chr3:38613772	SCN5A	R225P	Brugada syndrome	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 220334042.	NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter) GRCh37: Chr3:38646321 GRCh38: Chr3:38604830	SCN5A	E473*	Brugada syndrome	Pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 220333943.	NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe) GRCh37: Chr3:38627487 GRCh38: Chr3:38585996	SCN5A	L828F	Brugada syndrome	Pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 220333844.	NM_000335.5(SCN5A):c.2541del (p.Ile848fs) GRCh37: Chr3:38627428 GRCh38: Chr3:38585937	SCN5A	I848fs	Brugada syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 220333745.	NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs) GRCh37: Chr3:38622850-38622851 GRCh38: Chr3:38581359-38581360	LOC110121269, SCN5A	F934fs	Cardiovascular phenotype, Brugada syndrome	Pathogenic (May 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220333646.	NM_000335.5(SCN5A):c.4297-1G>A GRCh37: Chr3:38598070 GRCh38: Chr3:38556579	SCN5A		Brugada syndrome	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 220333547.	NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter) GRCh37: Chr3:38595810 GRCh38: Chr3:38554319	SCN5A	W1591, W1573, W1537, W1572, W1590*	Brugada syndrome	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 220333448.	NM_000335.5(SCN5A):c.5120C>A (p.Thr1707Asn) GRCh37: Chr3:38592740 GRCh38: Chr3:38551249	SCN5A	T1689N, T1708N, T1654N, T1675N, T1707N, T1690N	Brugada syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 220306349.	NM_004982.4(KCNJ8):c.1196G>T (p.Arg399Leu) GRCh37: Chr12:21918736 GRCh38: Chr12:21765802	KCNJ8		Brugada syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 220230450.	NM_000335.5(SCN5A):c.3636C>A (p.Phe1212Leu) GRCh37: Chr3:38616815 GRCh38: Chr3:38575324	SCN5A	F1159L, F1213L, F1212L	Brugada syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 220056151.	NM_000722.4(CACNA2D1):c.95+17G>A GRCh37: Chr7:82072664 GRCh38: Chr7:82443348	CACNA2D1		Brugada syndrome	Likely benign (Jan 24, 2022)	criteria provided, single submitter
Select item 220017552.	NM_000335.5(SCN5A):c.3961-5T>C GRCh37: Chr3:38601924 GRCh38: Chr3:38560433	SCN5A		Brugada syndrome	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 220014553.	NM_000335.5(SCN5A):c.5524G>T (p.Val1842Leu) GRCh37: Chr3:38592336 GRCh38: Chr3:38550845	SCN5A	V1842L, V1843L, V1824L, V1825L, V1810L, V1789L	Brugada syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 219963254.	NM_000335.5(SCN5A):c.3091G>A (p.Gly1031Ser) GRCh37: Chr3:38622559 GRCh38: Chr3:38581068	LOC110121269, SCN5A	G1031S	Brugada syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 219959855.	NM_006514.4(SCN10A):c.5022G>C (p.Gly1674=) GRCh37: Chr3:38739689 GRCh38: Chr3:38698198	SCN10A		Brugada syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 219900656.	NM_001377540.1(SLMAP):c.2021-19T>C GRCh37: Chr3:57898866 GRCh38: Chr3:57913139	SLMAP		Brugada syndrome	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 219879357.	NM_000335.5(SCN5A):c.657C>T (p.Arg219=) GRCh37: Chr3:38655280 GRCh38: Chr3:38613789	SCN5A		Brugada syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 219859158.	NM_006514.4(SCN10A):c.3228+11C>A GRCh37: Chr3:38766654 GRCh38: Chr3:38725163	SCN10A, LOC110121288		Brugada syndrome	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 219801059.	NM_006514.4(SCN10A):c.3879C>T (p.Leu1293=) GRCh37: Chr3:38753862 GRCh38: Chr3:38712371	SCN10A		Brugada syndrome	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 219743260.	NM_001377540.1(SLMAP):c.456+17T>A GRCh37: Chr3:57832977 GRCh38: Chr3:57847250	SLMAP		Brugada syndrome	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 219702461.	NM_000335.5(SCN5A):c.934+17C>T GRCh37: Chr3:38651208 GRCh38: Chr3:38609717	SCN5A		Brugada syndrome	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 219699762.	NM_012282.4(KCNE5):c.186C>T (p.Tyr62=) GRCh37: ChrX:108868064 GRCh38: ChrX:109624835	KCNE5		Brugada syndrome	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 219689563.	NM_001377540.1(SLMAP):c.1435A>G (p.Thr479Ala) GRCh37: Chr3:57882312 GRCh38: Chr3:57896585	SLMAP	T445A, T424A, T441A, T479A, T458A, T462A	Brugada syndrome	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 219680564.	NM_000335.5(SCN5A):c.611+19A>T GRCh37: Chr3:38662315 GRCh38: Chr3:38620824	SCN5A		Brugada syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 219679965.	NM_000335.5(SCN5A):c.3388-13C>T GRCh37: Chr3:38618285 GRCh38: Chr3:38576794	SCN5A		Brugada syndrome	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 219655966.	NM_012282.4(KCNE5):c.327G>C (p.Leu109=) GRCh37: ChrX:108867923 GRCh38: ChrX:109624694	KCNE5		Inborn genetic diseases, Brugada syndrome	Likely benign (Jul 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219635267.	NM_001377540.1(SLMAP):c.1315G>C (p.Glu439Gln) GRCh37: Chr3:57875782 GRCh38: Chr3:57890055	SLMAP	E418Q, E439Q, E384Q, E401Q, E405Q, E422Q	Brugada syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 219634968.	NM_000722.4(CACNA2D1):c.58G>C (p.Gly20Arg) GRCh37: Chr7:82072718 GRCh38: Chr7:82443402	CACNA2D1	G20R	Brugada syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 219631169.	NM_000722.4(CACNA2D1):c.10G>A (p.Gly4Ser) GRCh37: Chr7:82072766 GRCh38: Chr7:82443450	CACNA2D1	G4S	Brugada syndrome	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 219587870.	NM_006514.4(SCN10A):c.4197C>T (p.Val1399=) GRCh37: Chr3:38751053 GRCh38: Chr3:38709562	SCN10A		Cardiovascular phenotype, Brugada syndrome	Likely benign (Apr 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219579671.	NM_015141.4(GPD1L):c.1053A>G (p.Thr351=) GRCh37: Chr3:32207399 GRCh38: Chr3:32165907	GPD1L		Cardiovascular phenotype, Brugada syndrome	Likely benign (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219534872.	NM_006514.4(SCN10A):c.2046G>A (p.Met682Ile) GRCh37: Chr3:38783842 GRCh38: Chr3:38742351	SCN10A	M584I, M682I	not provided, Brugada syndrome	Uncertain significance (Jan 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219528773.	NM_004982.4(KCNJ8):c.789C>T (p.Ala263=) GRCh37: Chr12:21919143 GRCh38: Chr12:21766209	KCNJ8		Brugada syndrome	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 219492774.	NM_000722.4(CACNA2D1):c.96-18C>A GRCh37: Chr7:81978983 GRCh38: Chr7:82349667	CACNA2D1		Brugada syndrome	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 219484275.	NM_000722.4(CACNA2D1):c.2837-11C>T GRCh37: Chr7:81591350 GRCh38: Chr7:81962034	CACNA2D1		Brugada syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 219430476.	NM_006514.4(SCN10A):c.3942C>G (p.Thr1314=) GRCh37: Chr3:38753799 GRCh38: Chr3:38712308	SCN10A		Brugada syndrome	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 219423977.	NM_000335.5(SCN5A):c.3737C>T (p.Thr1246Ile) GRCh37: Chr3:38608000 GRCh38: Chr3:38566509	SCN5A	T1193I, T1246I, T1247I	Brugada syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 219398078.	NM_006514.4(SCN10A):c.2337C>A (p.Ile779=) GRCh37: Chr3:38770336 GRCh38: Chr3:38728845	SCN10A		Brugada syndrome	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 219328379.	NM_006514.4(SCN10A):c.4564G>A (p.Glu1522Lys) GRCh37: Chr3:38743423 GRCh38: Chr3:38701932	SCN10A	E1424K, E1522K, E1521K	Brugada syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 219322280.	NM_015141.4(GPD1L):c.493G>A (p.Glu165Lys) GRCh37: Chr3:32181846 GRCh38: Chr3:32140354	GPD1L	E165K	Brugada syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 219311781.	NM_006514.4(SCN10A):c.2281-20C>T GRCh37: Chr3:38770412 GRCh38: Chr3:38728921	SCN10A		Brugada syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 219310382.	NM_000335.5(SCN5A):c.50C>T (p.Thr17Ile) GRCh37: Chr3:38674749 GRCh38: Chr3:38633258	SCN5A	T17I	Brugada syndrome	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 219137883.	NM_006514.4(SCN10A):c.586G>A (p.Val196Ile) GRCh37: Chr3:38812783 GRCh38: Chr3:38771292	SCN10A	V196I	Brugada syndrome	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 219126084.	NM_000722.4(CACNA2D1):c.1895-11T>G GRCh37: Chr7:81611954 GRCh38: Chr7:81982638	CACNA2D1		Brugada syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219051285.	NM_000335.5(SCN5A):c.5973G>A (p.Gly1991=) GRCh37: Chr3:38591887 GRCh38: Chr3:38550396	SCN5A		Brugada syndrome	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 219028086.	NM_006514.4(SCN10A):c.3481A>G (p.Met1161Val) GRCh37: Chr3:38763775 GRCh38: Chr3:38722284	SCN10A, LOC110121288	M1161V, M1063V, M1160V	Brugada syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 218944787.	NM_000335.5(SCN5A):c.2668A>G (p.Ile890Val) GRCh37: Chr3:38627301 GRCh38: Chr3:38585810	SCN5A	I890V	Brugada syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 218943988.	NM_000335.5(SCN5A):c.3509-11C>G GRCh37: Chr3:38616953 GRCh38: Chr3:38575462	SCN5A		Brugada syndrome	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 218942789.	NM_006514.4(SCN10A):c.3543G>A (p.Thr1181=) GRCh37: Chr3:38760282 GRCh38: Chr3:38718791	SCN10A		Brugada syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 218923490.	NM_000335.5(SCN5A):c.3565G>T (p.Val1189Phe) GRCh37: Chr3:38616886 GRCh38: Chr3:38575395	SCN5A	V1136F, V1189F, V1190F	Brugada syndrome, Cardiovascular phenotype	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218904291.	NM_000335.5(SCN5A):c.4363T>C (p.Phe1455Leu) GRCh37: Chr3:38598003 GRCh38: Chr3:38556512	SCN5A	F1402L, F1455L, F1437L, F1438L, F1456L	Brugada syndrome	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 218819592.	NM_000335.5(SCN5A):c.108A>G (p.Ser36=) GRCh37: Chr3:38674691 GRCh38: Chr3:38633200	SCN5A		Brugada syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 218819493.	NM_000335.5(SCN5A):c.2655T>C (p.Phe885=) GRCh37: Chr3:38627314 GRCh38: Chr3:38585823	SCN5A		Brugada syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 218819394.	NM_000335.5(SCN5A):c.5727A>G (p.Arg1909=) GRCh37: Chr3:38592133 GRCh38: Chr3:38550642	SCN5A		Brugada syndrome	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 218768695.	NM_000335.5(SCN5A):c.4296+19T>C GRCh37: Chr3:38598703 GRCh38: Chr3:38557212	SCN5A		Brugada syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 218550796.	NM_000335.5(SCN5A):c.3961-9C>T GRCh37: Chr3:38601928 GRCh38: Chr3:38560437	SCN5A		Brugada syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 218530297.	NM_001377540.1(SLMAP):c.606C>A (p.Thr202=) GRCh37: Chr3:57843546 GRCh38: Chr3:57857819	SLMAP		Brugada syndrome	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 218307698.	NM_006514.4(SCN10A):c.2281-18G>A GRCh37: Chr3:38770410 GRCh38: Chr3:38728919	SCN10A		Brugada syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218284599.	NM_000722.4(CACNA2D1):c.397-9T>C GRCh37: Chr7:81746498 GRCh38: Chr7:82117182	CACNA2D1		Brugada syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 2182784100.	NM_001377540.1(SLMAP):c.1910G>A (p.Arg637Gln) GRCh37: Chr3:57898318 GRCh38: Chr3:57912591	SLMAP	R154Q, R541Q, R575Q, R582Q, R113Q, R562Q, R596Q, R88Q, R579Q, R599Q, R603Q, R616Q, R620Q, R637Q, R558Q, R644Q	Brugada syndrome	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter

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