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Links from MedGen

Items: 1 to 100 of 380

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr7:150654516
GRCh38:
Chr7:150957428
KCNH2S331fsLong QT syndrome 2Pathogenic
(Jan 5, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr7:150648581
GRCh38:
Chr7:150951493
KCNH2T294P, T534P, T538P, T575P, T634PLong QT syndrome 2Uncertain significance
(Oct 19, 2020)		criteria provided, single submitter
3.
GRCh37:
Chr7:150654492
GRCh38:
Chr7:150957404
KCNH2N239Y, N243Y, N280Y, N339YLong QT syndrome 2Uncertain significance
(Feb 2, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr7:150644468-150644469
GRCh38:
Chr7:150947380-150947381
KCNH2P1034fs, P694fsLong QT syndrome 2Pathogenic
(May 6, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr7:150647251
GRCh38:
Chr7:150950163
KCNH2M461I, M701I, M705I, M742I, M801ILong QT syndrome 2Likely pathogenic
(Oct 5, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr7:150649655
GRCh38:
Chr7:150952567
KCNH2R132H, R372H, R376H, R413H, R472HLong QT syndromeUncertain significance
(May 11, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr7:150672026
GRCh38:
Chr7:150974938
KCNH2R27fsLong QT syndrome 2Likely pathogenic
(Jul 16, 2021)		criteria provided, single submitter
8.
GRCh37:
Chr7:150656732
GRCh38:
Chr7:150959644
KCNH2E134*, E34*, E38*, E75*Long QT syndrome 2Likely pathogenic
(Jul 22, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr7:150648878-150648899
GRCh38:
Chr7:150951790-150951811
KCNH2R188fs, R528fsLong QT syndrome 2, Short QT syndrome type 1Pathogenic
(Jan 12, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr7:150644902-150644903
GRCh38:
Chr7:150947814-150947815
KCNH2S579fs, S919fsLong QT syndrome 2Pathogenic
(Nov 11, 2021)		criteria provided, single submitter
11.
GRCh37:
Chr7:150649673
GRCh38:
Chr7:150952585
KCNH2D126A, D466A, D370A, D407A, D366ALong QT syndrome 2Pathogenic
(Oct 30, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr7:150655320
GRCh38:
Chr7:150958232
KCNH2L248R, L152R, L148R, L189RLong QT syndrome 2Uncertain significance
(Mar 22, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr7:150655510
GRCh38:
Chr7:150958422
KCNH2A185T, A89T, A126T, A85TShort QT syndrome type 1, Long QT syndrome 2, Cardiovascular phenotype,
Long QT syndrome		Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:150655332
GRCh38:
Chr7:150958244
KCNH2A244G, A185G, A144G, A148GLong QT syndrome, Cardiovascular phenotype, Long QT syndrome 2
Uncertain significance
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr7:150648104
GRCh38:
Chr7:150951016
KCNH2I344V, I684V, I588V, I625V, I584VLong QT syndrome 2, Short QT syndrome type 1, Long QT syndrome
Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr7:150655164
GRCh38:
Chr7:150958076
KCNH2P300L, P204L, P200L, P241LLong QT syndrome, Short QT syndrome type 1, Long QT syndrome 2
Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:150648518
GRCh38:
Chr7:150951430
KCNH2Long QT syndrome 2, Short QT syndrome type 1, Long QT syndrome
Conflicting interpretations of pathogenicity
(Aug 15, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr7:150646079
GRCh38:
Chr7:150948991
KCNH2N819K, N479KLong QT syndrome 2, Short QT syndrome type 1, Long QT syndrome
Uncertain significance
(Jul 17, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr7:150642560
GRCh38:
Chr7:150945472
KCNH2P1125A, P785ALong QT syndrome, Long QT syndrome 2, Short QT syndrome type 1
Uncertain significance
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr7:150655312-150655313
GRCh38:
Chr7:150958224-150958225
KCNH2P251S, P151S, P192S, P155SLong QT syndrome, Long QT syndrome 2, Short QT syndrome type 1
Uncertain significance
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr7:150648610
GRCh38:
Chr7:150951522
KCNH2S284N, S624N, S565N, S528N, S524NCardiovascular phenotype, Long QT syndrome, Long QT syndrome 2,
Short QT syndrome type 1		Uncertain significance
(Nov 11, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:150656714
GRCh38:
Chr7:150959626
KCNH2S140fsLong QT syndrome 2Pathogenic
(Sep 24, 2021)		criteria provided, single submitter
23.
GRCh37:
Chr7:150674924
GRCh38:
Chr7:150977836
KCNH2Long QT syndrome, Long QT syndrome 2Likely pathogenic
(Mar 1, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:150644160
GRCh38:
Chr7:150947072
KCNH2Long QT syndrome 2, Short QT syndrome type 1, Long QT syndrome,
not provided		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr7:150671855
GRCh38:
Chr7:150974767
KCNH2Q84R, Q25RLong QT syndrome 2Uncertain significance
(Oct 6, 2021)		criteria provided, single submitter
26.
GRCh37:
Chr7:150644680
GRCh38:
Chr7:150947592
KCNH2Long QT syndrome, Short QT syndrome type 1, Long QT syndrome 2
Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr7:150671874
GRCh38:
Chr7:150974786
KCNH2A78T, A19Tnot provided, Long QT syndrome 2Pathogenic/Likely pathogenic
(Jun 22, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:150649645
GRCh38:
Chr7:150952557
KCNH2Y135*, Y475*, Y416*, Y375*, Y379*Long QT syndrome 2Pathogeniccriteria provided, single submitter
29.
GRCh37:
Chr7:150655246
GRCh38:
Chr7:150958158
KCNH2R273*, R173*, R177*, R214*Long QT syndrome 2, Long QT syndromePathogenic
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr7:150654364-150654374
GRCh38:
Chr7:150957276-150957286
KCNH2Long QT syndrome 2Likely pathogeniccriteria provided, single submitter
31.
GRCh37:
Chr7:150646165
GRCh38:
Chr7:150949077
KCNH2Long QT syndrome 2Pathogeniccriteria provided, single submitter
32.
GRCh37:
Chr7:150645549
GRCh38:
Chr7:150948461
KCNH2R552H, R892HLong QT syndrome 2, Short QT syndrome type 1, Cardiac arrhythmia,
not provided, Long QT syndrome		Uncertain significance
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr7:150656698
GRCh38:
Chr7:150959610
KCNH2T145I, T86I, T45I, T49ILong QT syndrome 2, Short QT syndrome type 1, Long QT syndrome
Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr7:150644878
GRCh38:
Chr7:150947790
KCNH2W927C, W587CCardiovascular phenotype, not provided, Long QT syndrome,
Short QT syndrome type 1, Long QT syndrome 2		Uncertain significance
(Feb 11, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:150642527
GRCh38:
Chr7:150945439
KCNH2L1136F, L796FShort QT syndrome type 1, Long QT syndrome 2, Long QT syndrome
Uncertain significance
(Apr 8, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:150644614
GRCh38:
Chr7:150947526
KCNH2Long QT syndrome 2Uncertain significance
(Feb 5, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr7:150647285
GRCh38:
Chr7:150950197
KCNH2L450P, L790P, L690P, L694P, L731PLong QT syndrome, Long QT syndrome 2Conflicting interpretations of pathogenicity
(Jun 12, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr7:150645948
GRCh38:
Chr7:150948860
KCNH2R523Q, R863Qnot provided, Long QT syndrome 2, Cardiovascular phenotype,
Long QT syndrome		Uncertain significance
(Mar 20, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr7:150671800
GRCh38:
Chr7:150974712
KCNH2Cardiovascular phenotype, Long QT syndrome 2, Long QT syndrome
Conflicting interpretations of pathogenicity
(Sep 30, 2021)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr7:150644555
GRCh38:
Chr7:150947467
KCNH2R1005W, R665WShort QT syndrome type 1, Long QT syndrome 2, Long QT syndrome
Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:150644963
GRCh38:
Chr7:150947875
KCNH2T559K, T899KLong QT syndrome 2, Short QT syndrome type 1, Long QT syndrome
Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:150671871
GRCh38:
Chr7:150974783
KCNH2A79T, A20TShort QT syndrome type 1, Long QT syndrome 2, Long QT syndrome,
Cardiac arrhythmia, not specified		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr7:150645548
GRCh38:
Chr7:150948460
KCNH2R553fs, R893fsLong QT syndrome 2Likely pathogenic
(Jan 1, 2019)		criteria provided, single submitter
44.
GRCh37:
Chr7:150648187
GRCh38:
Chr7:150951099
KCNH2F316fs, F656fsLong QT syndrome 2Pathogenic
(Jun 15, 2020)		criteria provided, single submitter
45.
GRCh37:
Chr7:150644789
GRCh38:
Chr7:150947701
KCNH2P617L, P957LLong QT syndrome 2Uncertain significancecriteria provided, single submitter
46.
GRCh37:
Chr7:150648100
GRCh38:
Chr7:150951012
KCNH2R345H, R685H, R589H, R626H, R585HLong QT syndrome, Long QT syndrome 2, Cardiovascular phenotype
Uncertain significance
(Feb 25, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:150647322
GRCh38:
Chr7:150950234
KCNH2A438T, A778T, A719T, A678T, A682TLong QT syndrome 2, Cardiovascular phenotypeUncertain significance
(Feb 3, 2023)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr7:150648886
GRCh38:
Chr7:150951798
KCNH2L192P, L532P, L432P, L473P, L436PLong QT syndrome 2, Long QT syndrome 1Conflicting interpretations of pathogenicity
(Oct 19, 2020)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr7:150648555
GRCh38:
Chr7:150951467
KCNH2I302M, I642M, I583M, I542M, I546MLong QT syndrome 2not providedno assertion provided
50.
GRCh37:
Chr7:150649841
GRCh38:
Chr7:150952753
KCNH2W410*, W70*, W310*, W314*, W351*Long QT syndrome 2Pathogenic
(Nov 22, 2019)		criteria provided, single submitter
51.
GRCh37:
Chr7:150671960
GRCh38:
Chr7:150974872
KCNH2C49FLong QT syndrome 2Likely pathogenic
(Nov 26, 2019)		criteria provided, single submitter
52.
GRCh37:
Chr7:150644600
GRCh38:
Chr7:150947512
KCNH2A650T, A990TLong QT syndrome, Cardiac arrhythmia, Short QT syndrome type 1,
Long QT syndrome 2		Uncertain significance
(Mar 20, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr7:150655585
GRCh38:
Chr7:150958497
KCNH2A160S, A60S, A101S, A64SCardiovascular phenotype, Short QT syndrome type 1, Long QT syndrome 2,
Long QT syndrome		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr7:150648062
GRCh38:
Chr7:150950974
KCNH2E698K, E358K, E602K, E598K, E639Knot provided, Long QT syndrome, Long QT syndrome 2
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr7:150647268
GRCh38:
Chr7:150950180
KCNH2V796L, V456L, V700L, V696L, V737LShort QT syndrome type 1, Long QT syndrome 2, Long QT syndrome
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr7:150648860
GRCh38:
Chr7:150951772
KCNH2R541C, R201C, R441C, R482C, R445CLong QT syndrome 2, Short QT syndrome type 1, Long QT syndrome,
Cardiac arrhythmia		Uncertain significance
(Oct 6, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr7:150649892
GRCh38:
Chr7:150952804
KCNH2P393L, P53L, P297L, P334L, P293LLong QT syndrome 2, Short QT syndrome type 1, Long QT syndrome
Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr7:150645577
GRCh38:
Chr7:150948489
KCNH2R883W, R543Wnot provided, Long QT syndrome 2, Short QT syndrome type 1,
Cardiac arrhythmia, Long QT syndrome, Cardiovascular phenotype
Uncertain significance
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr7:150645565
GRCh38:
Chr7:150948477
KCNH2R547G, R887GCardiac arrhythmia, Long QT syndrome, Short QT syndrome type 1,
Long QT syndrome 2		Uncertain significance
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr7:150647423
GRCh38:
Chr7:150950335
KCNH2R404Q, R744Q, R644Q, R648Q, R685QCardiovascular phenotype, Cardiac arrhythmia, Short QT syndrome type 1,
Long QT syndrome 2		Uncertain significance
(Jul 26, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr7:150674964
GRCh38:
Chr7:150977876
KCNH2T13Nnot provided, Long QT syndrome, Cardiovascular phenotype,
Cardiac arrhythmia, Short QT syndrome type 1, Long QT syndrome 2
Uncertain significance
(May 4, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr7:150644885
GRCh38:
Chr7:150947797
KCNH2G585E, G925ELong QT syndrome, Cardiac arrhythmia, Short QT syndrome type 1,
Long QT syndrome 2		Uncertain significance
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr7:150675012-150675013
GRCh38:
Chr7:150977924-150977925
KCNH2Short QT syndrome type 1, Long QT syndrome 2, Cardiac arrhythmia
Uncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:150644728
GRCh38:
Chr7:150947640
KCNH2C637W, C977WShort QT syndrome type 1, Long QT syndrome 2, Cardiac arrhythmia
Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr7:150655379
GRCh38:
Chr7:150958291
KCNH2Long QT syndrome 2, Long QT syndrome, Long QT syndrome 2,
Short QT syndrome type 1, Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Sep 24, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr7:150655238
GRCh38:
Chr7:150958150
KCNH2S275R, S179R, S175R, S216RLong QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr7:150648774
GRCh38:
Chr7:150951686
KCNH2Long QT syndrome 2, Cardiac arrhythmia, Cardiovascular phenotype,
Long QT syndrome		Conflicting interpretations of pathogenicity
(Feb 14, 2023)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr7:150648710
GRCh38:
Chr7:150951622
KCNH2D591N, D251N, D495N, D532N, D491NLong QT syndrome 2, Cardiac arrhythmia, Long QT syndrome
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr7:150644124
GRCh38:
Chr7:150947036
KCNH2Long QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr7:150642397
GRCh38:
Chr7:150945309
KCNH2Long QT syndrome 2Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr7:150642361
GRCh38:
Chr7:150945273
KCNH2Long QT syndrome 2Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr7:150642361
GRCh38:
Chr7:150945273
KCNH2Long QT syndrome 2Benign
(Apr 20, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr7:150654454
GRCh38:
Chr7:150957366
KCNH2Long QT syndrome 2, not provided, Long QT syndrome,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Aug 28, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr7:150642306
GRCh38:
Chr7:150945218
KCNH2Long QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr7:150642263
GRCh38:
Chr7:150945175
KCNH2not provided, Long QT syndrome 2Benign/Likely benign
(May 1, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr7:150642185
GRCh38:
Chr7:150945097
KCNH2Long QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr7:150675246
GRCh38:
Chr7:150978158
KCNH2Long QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr7:150675175
GRCh38:
Chr7:150978087
KCNH2Long QT syndrome 2Uncertain significance
(Feb 8, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr7:150654381
GRCh38:
Chr7:150957293
KCNH2Q376E, Q276E, Q280E, Q317ELong QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr7:150649762
GRCh38:
Chr7:150952674
KCNH2Long QT syndrome 2, Long QT syndromeConflicting interpretations of pathogenicity
(Sep 20, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr7:150649673
GRCh38:
Chr7:150952585
KCNH2D466G, D126G, D366G, D370G, D407GLong QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr7:150644866
GRCh38:
Chr7:150947778
KCNH2Cardiovascular phenotype, Long QT syndrome 2, Long QT syndrome
Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr7:150675046
GRCh38:
Chr7:150977958
KCNH2Long QT syndrome 2Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr7:150675034
GRCh38:
Chr7:150977946
KCNH2Long QT syndrome 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr7:150672035
GRCh38:
Chr7:150974947
KCNH2Long QT syndrome 2, Cardiac arrhythmia, Long QT syndrome
Conflicting interpretations of pathogenicity
(Aug 20, 2021)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr7:150648881
GRCh38:
Chr7:150951793
KCNH2R194G, R534G, R434G, R438G, R475GLong QT syndrome 2Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
87.
GRCh37:
Chr7:150644683
GRCh38:
Chr7:150947595
KCNH2Long QT syndrome, Long QT syndrome 2Conflicting interpretations of pathogenicity
(Aug 15, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr7:150644496
GRCh38:
Chr7:150947408
KCNH2Long QT syndrome 2, Cardiac arrhythmia, Long QT syndrome,
Cardiovascular phenotype, not provided		Conflicting interpretations of pathogenicity
(Jul 27, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr7:150672011
GRCh38:
Chr7:150974923
KCNH2A32VLong QT syndrome 2Pathogenic
(Oct 12, 2019)		criteria provided, single submitter
90.
GRCh37:
Chr7:150648548
GRCh38:
Chr7:150951460
KCNH2M305L, M645L, M545L, M586L, M549LLong QT syndrome 2Pathogenic
(Jul 11, 2019)		criteria provided, single submitter
91.
GRCh37:
Chr7:150654455
GRCh38:
Chr7:150957367
KCNH2S351L, S292L, S251L, S255LLong QT syndrome, Long QT syndrome 2Conflicting interpretations of pathogenicity
(Sep 17, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr7:150655494-150655495
GRCh38:
Chr7:150958406-150958407
KCNH2Short QT syndrome type 1, Long QT syndrome 2, Long QT syndrome,
not specified		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr7:150655549-150655550
GRCh38:
Chr7:150958461-150958462
KCNH2Long QT syndrome, Long QT syndrome 2Uncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:150649601
GRCh38:
Chr7:150952513
KCNH2A490V, A150V, A431V, A390V, A394VInborn genetic diseases, Cardiovascular phenotype, Long QT syndrome,
Long QT syndrome 2		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr7:150644963
GRCh38:
Chr7:150947875
KCNH2T559M, T899MCardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome,
Short QT syndrome type 1, Long QT syndrome 2		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr7:150644741
GRCh38:
Chr7:150947653
KCNH2L633fs, L973fsLong QT syndrome, Long QT syndrome 2Pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr7:150645583
GRCh38:
Chr7:150948495
KCNH2F881I, F541ICardiovascular phenotype, Long QT syndrome, Long QT syndrome 2,
Short QT syndrome type 1		Uncertain significance
(Mar 13, 2023)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr7:150649880
GRCh38:
Chr7:150952792
KCNH2R57H, R397H, R301H, R297H, R338HCardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome,
Short QT syndrome type 1, Long QT syndrome 2		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr7:150644876
GRCh38:
Chr7:150947788
KCNH2G588E, G928ELong QT syndrome, Long QT syndrome 2, Short QT syndrome type 1,
Long QT syndrome 2		Uncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr7:150644479
GRCh38:
Chr7:150947391
KCNH2P690L, P1030Lnot provided, Cardiovascular phenotype, Long QT syndrome,
Cardiac arrhythmia, Short QT syndrome type 1, Long QT syndrome 2
Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
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