ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 438
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.30594727A>T
NC_000012.12:g.109833410C>A
NC_000012.12:g.119178791C>G
NC_000012.12:g.119178894A>T
NC_000014.9:g.101964570C>T
NM_001005360.2(DNM2):c.*106T>C rs886054144
NM_001005360.2(DNM2):c.*166G>A rs886054145
NM_001005360.2(DNM2):c.*391C>T rs886054147
NM_001005360.2(DNM2):c.*550G>A rs886054148
NM_001005360.2(DNM2):c.*711T>C rs886054149
NM_001005360.2(DNM2):c.*79G>A rs550692861
NM_001005360.2(DNM2):c.*82C>T rs569502521
NM_001005360.2(DNM2):c.*88C>G rs886054143
NM_001005360.2(DNM2):c.-122G>A rs886054139
NM_001005360.2(DNM2):c.-153G>T rs886054138
NM_001005360.2(DNM2):c.-19G>T rs753599004
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) rs766613900
NM_001005360.2(DNM2):c.1423-9C>G rs371006369
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005360.2(DNM2):c.162-9C>A rs200736669
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) rs200968756
NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser) rs886054141
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005361.3(DNM2):c.*185A>C
NM_001005361.3(DNM2):c.*214C>T
NM_001005361.3(DNM2):c.*373G>A
NM_001005361.3(DNM2):c.*379C>T
NM_001005361.3(DNM2):c.*716C>T
NM_001005361.3(DNM2):c.*751T>A
NM_001005361.3(DNM2):c.-116C>T
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
NM_001005361.3(DNM2):c.1782-6C>T rs963604980
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
NM_001316772.1(GARS1):c.-221C>T rs886062271
NM_001316772.1(GARS1):c.-226C>T
NM_001316772.1(GARS1):c.-231T>G
NM_001316772.1(GARS1):c.-242C>T rs886062270
NM_001316772.1(GARS1):c.-247C>A
NM_001316772.1(GARS1):c.-328T>G
NM_001316772.1(GARS1):c.-342G>C
NM_001362931.2(GDAP1):c.694+3856A>G
NM_001362931.2(GDAP1):c.694+3989C>T
NM_001362931.2(GDAP1):c.694+4016T>C
NM_001362931.2(GDAP1):c.694+4037T>C rs886063119
NM_001376.4(DYNC1H1):c.-137C>T rs886050367
NM_001376.5(DYNC1H1):c.*108G>A rs886050378
NM_001376.5(DYNC1H1):c.*194C>G
NM_001376.5(DYNC1H1):c.*194C>T rs566606862
NM_001376.5(DYNC1H1):c.*70T>C
NM_001376.5(DYNC1H1):c.-90C>T
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2719-15T>C
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996
NM_001376.5(DYNC1H1):c.5049+15G>A
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
NM_001376.5(DYNC1H1):c.8177+12C>T
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.*116C>T
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
NM_001605.2(AARS1):c.*169C>G rs554221793
NM_001605.2(AARS1):c.*324G>A rs141837805
NM_001605.2(AARS1):c.-108T>C rs779683414
NM_001605.2(AARS1):c.1120A>G (p.Ile374Val) rs142128800
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234
NM_001605.2(AARS1):c.1493-7T>C rs376087556
NM_001605.2(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.2(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.2(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.2(AARS1):c.1846C>T (p.Arg616Cys) rs372221218
NM_001605.2(AARS1):c.2109G>C (p.Val703=) rs777499923
NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu) rs754391789
NM_001605.2(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.2(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.2(AARS1):c.2378G>C (p.Arg793Thr) rs886052253
NM_001605.2(AARS1):c.2401-11A>G rs377576408
NM_001605.2(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.2(AARS1):c.2596G>A (p.Ala866Thr) rs374478964
NM_001605.2(AARS1):c.333+3A>C rs747431164
NM_001605.2(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.2(AARS1):c.480-8T>G rs751472610
NM_001605.2(AARS1):c.518A>G (p.Asp173Gly) rs765398055
NM_001605.2(AARS1):c.63C>T (p.Asn21=) rs773045737
NM_001605.2(AARS1):c.806C>G (p.Ala269Gly) rs769239545
NM_001605.2(AARS1):c.91A>G (p.Thr31Ala) rs886052256
NM_001605.2(AARS1):c.962+15C>T rs779150762
NM_001605.3(AARS1):c.*131G>A
NM_001605.3(AARS1):c.*32T>C
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
NM_002047.3(GARS):c.-197G>C rs886062269
NM_002047.3(GARS):c.-237A>C rs540431164
NM_002047.4(GARS1):c.*145C>A
NM_002047.4(GARS1):c.-36C>T rs531483802
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
NM_002047.4(GARS1):c.1194+3A>C
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520
NM_002047.4(GARS1):c.882-4A>G rs778219649
NM_004637.5(RAB7A):c.*1029A>G rs776759455
NM_004637.5(RAB7A):c.*1142G>A rs747470481
NM_004637.5(RAB7A):c.*1161C>T rs886057952
NM_004637.5(RAB7A):c.*1301A>G rs182528613
NM_004637.5(RAB7A):c.*165A>T rs886057942
NM_004637.5(RAB7A):c.*181G>A rs3206306
NM_004637.5(RAB7A):c.*183A>G rs774054837
NM_004637.5(RAB7A):c.*473G>C rs886057945
NM_004637.5(RAB7A):c.*700C>T rs886057946
NM_004637.5(RAB7A):c.*702T>G rs886057947
NM_004637.5(RAB7A):c.*85A>G rs549333234
NM_004637.5(RAB7A):c.*922A>G rs886057949
NM_004637.5(RAB7A):c.*929A>T rs886057950
NM_004637.5(RAB7A):c.*997T>G rs3755593
NM_004637.5(RAB7A):c.-154G>A rs886057939
NM_004637.5(RAB7A):c.-18A>G rs886057941
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val) rs147480945
NM_004637.6(RAB7A):c.*1079C>T
NM_004637.6(RAB7A):c.*1219C>T
NM_004637.6(RAB7A):c.*1343C>T
NM_004637.6(RAB7A):c.*1344G>A
NM_004637.6(RAB7A):c.*274G>A
NM_004637.6(RAB7A):c.*317A>G
NM_004637.6(RAB7A):c.*402T>A
NM_004637.6(RAB7A):c.*819C>A
NM_004637.6(RAB7A):c.*831A>G
NM_004637.6(RAB7A):c.*908A>C
NM_004637.6(RAB7A):c.*956G>A
NM_004637.6(RAB7A):c.*974A>G
NM_004637.6(RAB7A):c.*989C>G
NM_004637.6(RAB7A):c.-146G>C
NM_004637.6(RAB7A):c.-61G>A
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
NM_004637.6(RAB7A):c.54-15T>C
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_014365.2(HSPB8):c.*504T>C rs886049027
NM_014365.2(HSPB8):c.*648A>G rs770364674
NM_014365.2(HSPB8):c.*67T>G rs886049026
NM_014365.2(HSPB8):c.*803T>C rs886049029
NM_014365.2(HSPB8):c.-172G>C rs886049025
NM_014365.2(HSPB8):c.-201G>T rs764259720
NM_014365.2(HSPB8):c.-314T>C rs754447057
NM_014365.2(HSPB8):c.-480C>G rs886049024
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg) rs146900850
NM_014365.2(HSPB8):c.432-10T>A rs368810689
NM_014365.3(HSPB8):c.*123G>A
NM_014365.3(HSPB8):c.*330A>T
NM_014365.3(HSPB8):c.*788C>T
NM_014365.3(HSPB8):c.*860T>C
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
NM_018972.4(GDAP1):c.*1030T>C rs576789317
NM_018972.4(GDAP1):c.*1043G>C
NM_018972.4(GDAP1):c.*1080G>A
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1141C>T
NM_018972.4(GDAP1):c.*1165C>G
NM_018972.4(GDAP1):c.*1183G>A
NM_018972.4(GDAP1):c.*1289T>C
NM_018972.4(GDAP1):c.*1301A>G
NM_018972.4(GDAP1):c.*1372A>G
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1415C>T
NM_018972.4(GDAP1):c.*1416G>A rs575631045
NM_018972.4(GDAP1):c.*1430T>A rs538689570
NM_018972.4(GDAP1):c.*1437A>C rs557040712
NM_018972.4(GDAP1):c.*1527G>A rs886063113
NM_018972.4(GDAP1):c.*1570G>C rs886063114
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*18C>T
NM_018972.4(GDAP1):c.*1905A>G
NM_018972.4(GDAP1):c.*1923C>T rs886063116
NM_018972.4(GDAP1):c.*195T>C
NM_018972.4(GDAP1):c.*1968C>T
NM_018972.4(GDAP1):c.*1976C>T rs527937918
NM_018972.4(GDAP1):c.*2125A>C
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2210C>T rs571939530
NM_018972.4(GDAP1):c.*2298A>C
NM_018972.4(GDAP1):c.*2298A>G rs4551344
NM_018972.4(GDAP1):c.*331C>T
NM_018972.4(GDAP1):c.*444A>G rs113377784
NM_018972.4(GDAP1):c.*451C>T
NM_018972.4(GDAP1):c.*618C>T rs886063106
NM_018972.4(GDAP1):c.*644G>T
NM_018972.4(GDAP1):c.*663T>C rs886063107
NM_018972.4(GDAP1):c.*697A>G
NM_018972.4(GDAP1):c.*751A>G rs544136357
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*860T>C
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*873T>C rs573385308
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.*926C>A
NM_018972.4(GDAP1):c.*931A>G rs532787830
NM_018972.4(GDAP1):c.*961G>C rs886063110
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
NM_018972.4(GDAP1):c.485-6T>C rs763802909
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_021625.4(TRPV4):c.*212G>A rs886048938
NM_021625.4(TRPV4):c.*405G>A rs886048937
NM_021625.4(TRPV4):c.*51G>A rs886048939
NM_021625.4(TRPV4):c.*99C>T rs552478250
NM_021625.4(TRPV4):c.-74G>A rs886048942
NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=) rs750086412
NM_021625.4(TRPV4):c.1211G>A (p.Arg404His) rs377257364
NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=) rs142749412
NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) rs775011025
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344
NM_021625.4(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.4(TRPV4):c.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633
NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2439C>T (p.Thr813=) rs545589086
NM_021625.4(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) rs769445973
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.963C>A (p.Gly321=) rs148534854
NM_021625.5(TRPV4):c.*145C>T
NM_021625.5(TRPV4):c.*227A>G
NM_021625.5(TRPV4):c.*2G>A
NM_021625.5(TRPV4):c.*303G>A
NM_021625.5(TRPV4):c.*411A>G
NM_021625.5(TRPV4):c.*421G>A
NM_021625.5(TRPV4):c.*500C>T
NM_021625.5(TRPV4):c.*83C>G
NM_021625.5(TRPV4):c.-59C>T
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
NM_030973.3(MED25):c.1482+1G>A rs1568624159
NM_138361.5(LRSAM1):c.*121C>T
NM_138361.5(LRSAM1):c.*238G>A rs886063459
NM_138361.5(LRSAM1):c.*350C>A rs764119919
NM_138361.5(LRSAM1):c.*356G>A
NM_138361.5(LRSAM1):c.*370C>T
NM_138361.5(LRSAM1):c.*392G>T
NM_138361.5(LRSAM1):c.*501C>T rs886063460
NM_138361.5(LRSAM1):c.*552A>G
NM_138361.5(LRSAM1):c.*588T>A rs886063461
NM_138361.5(LRSAM1):c.*597T>G rs751523580
NM_138361.5(LRSAM1):c.-127C>A
NM_138361.5(LRSAM1):c.-309A>G rs886063453
NM_138361.5(LRSAM1):c.-321A>G
NM_138361.5(LRSAM1):c.-338G>A rs886063451
NM_138361.5(LRSAM1):c.-35C>T
NM_138361.5(LRSAM1):c.-401C>T rs886063450
NM_138361.5(LRSAM1):c.-458A>G rs760403428
NM_138361.5(LRSAM1):c.-561C>T
NM_138361.5(LRSAM1):c.-567G>A
NM_138361.5(LRSAM1):c.-78C>T rs886063454
NM_138361.5(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457
NM_138361.5(LRSAM1):c.1159+13A>T
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_138361.5(LRSAM1):c.1347+6C>T rs1588128875
NM_138361.5(LRSAM1):c.1422+15T>A
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) rs140066362
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1699-3C>T
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1834G>A (p.Gly612Ser)
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_138361.5(LRSAM1):c.2115C>T (p.Thr705=)
NM_138361.5(LRSAM1):c.2134G>A (p.Asp712Asn)
NM_138361.5(LRSAM1):c.390G>C (p.Gln130His)
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_138361.5(LRSAM1):c.598A>G (p.Ile200Val)
NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.972G>A (p.Leu324=) rs940085400
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1698+83G>A
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.4(LMNA):c.356+12C>A
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.