List of variants in gene KCNH2 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.1128+1820_1128+1821del	rs1064794494	0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)	rs766379103	0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)	rs199472979	0.00001
NM_000238.4(KCNH2):c.2081G>A (p.Arg694His)	rs794728383	0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)	rs121912512	0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)	rs199473432	0.00001
NM_000238.4(KCNH2):c.1048del (p.Ala350fs)	rs1064793523
NM_000238.4(KCNH2):c.1102del (p.His368fs)	rs1584863723
NM_000238.4(KCNH2):c.1132dup (p.Leu378fs)	rs794728432
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)	rs1563161538
NM_000238.4(KCNH2):c.119C>T (p.Ala40Val)	rs794728407
NM_000238.4(KCNH2):c.1205A>G (p.His402Arg)	rs199473506
NM_000238.4(KCNH2):c.121G>C (p.Val41Leu)	rs199472835
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)	rs199472894
NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro)	rs794728368
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)	rs199472900
NM_000238.4(KCNH2):c.131G>A (p.Cys44Tyr)	rs199473489
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter)	rs1563160541
NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro)	rs794728369
NM_000238.4(KCNH2):c.1423_1425del (p.Tyr475del)	rs794728437
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)	rs199472911
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)	rs199472912
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)	rs199472915
NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser)	rs199472916
NM_000238.4(KCNH2):c.1610G>A (p.Arg537Gln)	rs794728373
NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter)	rs1554430962
NM_000238.4(KCNH2):c.1664G>A (p.Cys555Tyr)	rs1057517866
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)	rs199472919
NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu)	rs199472845
NM_000238.4(KCNH2):c.1686C>G (p.His562Gln)	rs1057520477
NM_000238.4(KCNH2):c.1689G>C (p.Trp563Cys)	rs199473517
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro)	rs199473518
NM_000238.4(KCNH2):c.1694C>T (p.Ala565Val)	rs794728482
NM_000238.4(KCNH2):c.1701del (p.Trp568fs)	rs794728440
NM_000238.4(KCNH2):c.170C>T (p.Ala57Val)	rs794728493
NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala)	rs199473423
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)	rs199473413
NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly)	rs199472847
NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu)	rs794728484
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)	rs199472934
NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp)	rs794728480
NM_000238.4(KCNH2):c.1811G>T (p.Gly604Val)	rs199472937
NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe)	rs199472945
NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del)	rs1554425762
NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu)	rs1057524595
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg)	rs121912507
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)	rs794728442
NM_000238.4(KCNH2):c.1945+1G>A	rs794728487
NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val)	rs1085307943
NM_000238.4(KCNH2):c.1973A>G (p.Asn658Ser)	rs1057523338
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)	rs199473417
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)	rs1064794793
NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs)	rs1064796584
NM_000238.4(KCNH2):c.2192A>C (p.His731Pro)	rs794728385
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)	rs199473422
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs)	rs1389503709
NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr)	rs794728386
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)	rs199472995
NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe)	rs771674303
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr)	rs199472848
NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)	rs794728387
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp)	rs794728389
NM_000238.4(KCNH2):c.2415del (p.Phe805fs)	rs1064793368
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)	rs199473000
NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu)	rs121912506
NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala)
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)	rs1064793147
NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr)	rs199473005
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser)	rs199473006
NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)	rs199473494
NM_000238.4(KCNH2):c.2692+5G>T	rs1057522921
NM_000238.4(KCNH2):c.2762del (p.Gly921fs)	rs1584845263
NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs)	rs1584845045
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)	rs794728458
NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs)	rs1064795287
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)	rs794728462
NM_000238.4(KCNH2):c.2966-2_2967dup	rs794728464
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys)	rs199472854
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)	rs199473018
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)	rs794728402
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)	rs199472856
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)	rs864622174
NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs)	rs864622174
NM_000238.4(KCNH2):c.308-2A>G	rs1057520598
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)	rs1554424091
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)	rs794728466
NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs)	rs1554424042
NM_000238.4(KCNH2):c.3255del (p.Pro1086fs)	rs1064795855
NM_000238.4(KCNH2):c.331_337dup (p.Val113fs)	rs1554428238
NM_000238.4(KCNH2):c.379C>T (p.Leu127Phe)	rs794728352
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu)	rs764831888
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)	rs1554427931
NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs)	rs2117006178
NM_000238.4(KCNH2):c.76+1dup	rs2117072537
NM_000238.4(KCNH2):c.77-1G>A	rs794728406
NM_000238.4(KCNH2):c.80G>A (p.Arg27His)	rs199472828
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)	rs552583527
NM_000238.4(KCNH2):c.850_868del (p.Ser284fs)	rs794728427
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)	rs199472884
NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)	rs199472833
NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter)	rs199472886
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)	rs199473487

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