NM_003283.6(TNNT1):c.780C>T (p.His260=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000546860] |
Chr19:55133898 [GRCh38] Chr19:55645266 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000545944] |
Chr19:55132950 [GRCh38] Chr19:55644318 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641952] |
Chr19:55134091 [GRCh38] Chr19:55645459 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641953] |
Chr19:55137191 [GRCh38] Chr19:55648559 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.792-2A>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV000552639] |
Chr19:55132962 [GRCh38] Chr19:55644330 [GRCh37] Chr19:19q13.42 |
likely pathogenic|uncertain significance |
NM_003283.6(TNNT1):c.-20A>G |
single nucleotide variant |
Dilated Cardiomyopathy, Recessive [RCV000383640]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000289192]|Familial restrictive cardiomyopathy [RCV000380170]|Hypertrophic cardiomyopathy [RCV000344273]|Nemaline Myopathy, Recessive [RCV000272701]|Nemaline myopathy 5 [RCV001129799]|not provided [RCV000024550]|not specified [RCV000431141] |
Chr19:55149169 [GRCh38] Chr19:55660537 [GRCh37] Chr19:19q13.42 |
benign|likely benign|not provided |
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001080396]|not provided [RCV000024551] |
Chr19:55141216 [GRCh38] Chr19:55652584 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_003283.6(TNNT1):c.795G>T (p.Arg265=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001079399]|not provided [RCV000024552] |
Chr19:55132957 [GRCh38] Chr19:55644325 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.792-114C>T |
single nucleotide variant |
not provided [RCV000024553] |
Chr19:55133074 [GRCh38] Chr19:55644442 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.792-278C>A |
single nucleotide variant |
not provided [RCV000024554] |
Chr19:55133238 [GRCh38] Chr19:55644606 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.611+201C>T |
single nucleotide variant |
not provided [RCV000024555] |
Chr19:55136902 [GRCh38] Chr19:55648270 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.193-88T>C |
single nucleotide variant |
not provided [RCV000024556] |
Chr19:55141390 [GRCh38] Chr19:55652758 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.107-108G>T |
single nucleotide variant |
not provided [RCV000024557] |
Chr19:55145673 [GRCh38] Chr19:55657041 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.47-13C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV000358097]|not provided [RCV000024558]|not specified [RCV000080083] |
Chr19:55146720 [GRCh38] Chr19:55658088 [GRCh37] Chr19:19q13.42 |
benign|likely benign|not provided |
NM_003283.6(TNNT1):c.-12+30T>C |
single nucleotide variant |
not provided [RCV000024559] |
Chr19:55149131 [GRCh38] Chr19:55660499 [GRCh37] Chr19:19q13.42 |
benign|not provided |
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) |
single nucleotide variant |
Dilated Cardiomyopathy, Recessive [RCV000354576]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000299675]|Familial restrictive cardiomyopathy [RCV000259493]|Hypertrophic cardiomyopathy [RCV000263178]|Nemaline myopathy 5 [RCV001129797]|not provided [RCV000024560]|not specified [RCV000080082] |
Chr19:55147019 [GRCh38] Chr19:55658387 [GRCh37] Chr19:19q13.42 |
benign|likely benign|not provided |
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000020554]|not provided [RCV000024549] |
Chr19:55137176 [GRCh38] Chr19:55648544 [GRCh37] Chr19:19q13.42 |
pathogenic|not provided |
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 |
copy number gain |
See cases [RCV000050883] |
Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 |
copy number gain |
See cases [RCV000052925] |
Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 |
copy number gain |
See cases [RCV000052926] |
Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 |
copy number gain |
See cases [RCV000052914] |
Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 |
copy number gain |
See cases [RCV000052915] |
Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
NM_003283.6(TNNT1):c.129-9T>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV000614709]|not specified [RCV000118643] |
Chr19:55141929 [GRCh38] Chr19:55653297 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003283.6(TNNT1):c.33-8G>A |
single nucleotide variant |
Dilated Cardiomyopathy, Recessive [RCV000330078]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000333667]|Familial restrictive cardiomyopathy [RCV000274929]|Hypertrophic cardiomyopathy [RCV000388119]|Nemaline Myopathy, Recessive [RCV000326614]|Nemaline myopathy 5 [RCV001129798]|not specified [RCV000118644] |
Chr19:55147029 [GRCh38] Chr19:55658397 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641949]|not provided [RCV000724813] |
Chr19:55137134 [GRCh38] Chr19:55648502 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 |
copy number gain |
See cases [RCV000134174] |
Chr19:52612432..58581203 [GRCh38] Chr19:53115685..59092570 [GRCh37] Chr19:57807497..63784382 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 |
copy number gain |
See cases [RCV000134139] |
Chr19:52955056..58581203 [GRCh38] Chr19:53458309..59092570 [GRCh37] Chr19:58150121..63784382 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 |
copy number gain |
See cases [RCV000135843] |
Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 |
copy number gain |
See cases [RCV000138139] |
Chr19:55048514..56972458 [GRCh38] Chr19:55595687..57483826 [GRCh37] Chr19:60251694..62175638 [NCBI36] Chr19:19q13.42-13.43 |
likely pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 |
copy number gain |
See cases [RCV000142008] |
Chr19:52143873..58445521 [GRCh38] Chr19:52647126..58956888 [GRCh37] Chr19:57338938..63648700 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 |
copy number gain |
See cases [RCV000142245] |
Chr19:55037146..56982033 [GRCh38] Chr19:55548514..57493401 [GRCh37] Chr19:60240326..62185213 [NCBI36] Chr19:19q13.42-13.43 |
uncertain significance |
GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3 |
copy number gain |
See cases [RCV000142067] |
Chr19:55066790..55789870 [GRCh38] Chr19:55578158..56301236 [GRCh37] Chr19:60269970..60993048 [NCBI36] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.795= (p.Arg265=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001514214]|not specified [RCV000154008] |
Chr19:55132957 [GRCh38] Chr19:55644325 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.323C>G (p.Ser108Ter) |
single nucleotide variant |
not provided [RCV000154009] |
Chr19:55140947 [GRCh38] Chr19:55652315 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207190] |
Chr19:54710237..55648526 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.193-42C>G |
single nucleotide variant |
not provided [RCV000832020]|not specified [RCV000246122] |
Chr19:55141344 [GRCh38] Chr19:55652712 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_003283.6(TNNT1):c.128+17T>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002058134]|not specified [RCV000249133] |
Chr19:55145527 [GRCh38] Chr19:55656895 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.73+39dup |
duplication |
not specified [RCV000241909] |
Chr19:55146635..55146636 [GRCh38] Chr19:55658003..55658004 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.*12C>T |
single nucleotide variant |
not specified [RCV000244369] |
Chr19:55132903 [GRCh38] Chr19:55644271 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.751-5C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV000876544]|not provided [RCV001534587]|not specified [RCV000242281] |
Chr19:55133932 [GRCh38] Chr19:55645300 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003283.6(TNNT1):c.47-6C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV000553573]|not provided [RCV001582852]|not specified [RCV000249732] |
Chr19:55146713 [GRCh38] Chr19:55658081 [GRCh37] Chr19:19q13.42 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.751-16T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002058135]|not specified [RCV000245076] |
Chr19:55133943 [GRCh38] Chr19:55645311 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.751-42_751-35del |
microsatellite |
not provided [RCV001651177]|not specified [RCV000250124] |
Chr19:55133962..55133969 [GRCh38] Chr19:55645330..55645337 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000295989] |
Chr19:55133921 [GRCh38] Chr19:55645289 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) |
single nucleotide variant |
Nemaline Myopathy, Recessive [RCV000356816]|Nemaline myopathy 5 [RCV000815173]|not provided [RCV002288975] |
Chr19:55140915 [GRCh38] Chr19:55652283 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.611+12G>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV000392067] |
Chr19:55137091 [GRCh38] Chr19:55648459 [GRCh37] Chr19:19q13.42 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.-12+15G>A |
single nucleotide variant |
Nemaline Myopathy, Recessive [RCV000362549]|not specified [RCV000609807] |
Chr19:55149146 [GRCh38] Chr19:55660514 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_003283.6(TNNT1):c.791+12C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV000399124]|not provided [RCV001551007] |
Chr19:55133875 [GRCh38] Chr19:55645243 [GRCh37] Chr19:19q13.42 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000266816] |
Chr19:55147020 [GRCh38] Chr19:55658388 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.73+15T>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV000303349] |
Chr19:55146666 [GRCh38] Chr19:55658034 [GRCh37] Chr19:19q13.42 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.750+15C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV000350860]|not provided [RCV000437985] |
Chr19:55134051 [GRCh38] Chr19:55645419 [GRCh37] Chr19:19q13.42 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.523C>T (p.Arg175Trp) |
single nucleotide variant |
not provided [RCV000302040] |
Chr19:55137191 [GRCh38] Chr19:55648559 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_000363.5(TNNI3):c.373-10= |
single nucleotide variant |
Cardiomyopathy [RCV000769528]|Cardiomyopathy, familial restrictive, 1 [RCV001129874]|Dilated cardiomyopathy 2A [RCV001129877]|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV001129875]|Hypertrophic cardiomyopathy 7 [RCV001129876]|Hypertrophic cardiomyopathy [RCV000860231]|Nemaline Myopathy, Recessive [RCV000395490]|Primary ciliary dyskinesia [RCV000340860]|Primary familial hypertrophic cardiomyopathy [RCV000030563]|not provided [RCV001701643]|not specified [RCV000154609] |
Chr19:55154216 [GRCh38] Chr19:55665584 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003283.6(TNNT1):c.566G>A (p.Arg189His) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641951]|not provided [RCV003236828] |
Chr19:55137148 [GRCh38] Chr19:55648516 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.120dup (p.Lys41fs) |
duplication |
Nemaline myopathy 5 [RCV000641947] |
Chr19:55145551..55145552 [GRCh38] Chr19:55656919..55656920 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.31_32+1del |
microsatellite |
Nemaline myopathy 5 [RCV000797421]|not provided [RCV000594658] |
Chr19:55147125..55147127 [GRCh38] Chr19:55658493..55658495 [GRCh37] Chr19:19q13.42 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.200A>G (p.His67Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000539592] |
Chr19:55141295 [GRCh38] Chr19:55652663 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.156G>A (p.Pro52=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641948]|not provided [RCV001721327] |
Chr19:55141893 [GRCh38] Chr19:55653261 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.310-14T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV001134782]|not provided [RCV001703774] |
Chr19:55140974 [GRCh38] Chr19:55652342 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.32+8C>T |
single nucleotide variant |
not specified [RCV000435719] |
Chr19:55147118 [GRCh38] Chr19:55658486 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.611+12G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001133314]|not specified [RCV000439890] |
Chr19:55137091 [GRCh38] Chr19:55648459 [GRCh37] Chr19:19q13.42 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 |
copy number gain |
See cases [RCV000445925] |
Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_003283.6(TNNT1):c.144T>A (p.Pro48=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002056669]|not specified [RCV000420269] |
Chr19:55141905 [GRCh38] Chr19:55653273 [GRCh37] Chr19:19q13.42 |
likely benign |
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 |
copy number gain |
See cases [RCV000448186] |
Chr19:54344821..58956888 [GRCh37] Chr19:19q13.42-13.43 |
pathogenic |
NM_003283.6(TNNT1):c.134C>T (p.Pro45Leu) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000945674]|not specified [RCV000500058] |
Chr19:55141915 [GRCh38] Chr19:55653283 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_003283.6(TNNT1):c.294C>T (p.Ala98=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000528356]|not specified [RCV000606580] |
Chr19:55141201 [GRCh38] Chr19:55652569 [GRCh37] Chr19:19q13.42 |
likely benign |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_003283.6(TNNT1):c.32+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV000622890]|Nemaline myopathy 5 [RCV000538654] |
Chr19:55147121 [GRCh38] Chr19:55658489 [GRCh37] Chr19:19q13.42 |
likely pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3 |
copy number gain |
See cases [RCV000510290] |
Chr19:55549385..57489784 [GRCh37] Chr19:19q13.42-13.43 |
uncertain significance |
NM_003283.6(TNNT1):c.24A>G (p.Glu8=) |
single nucleotide variant |
not specified [RCV000615706] |
Chr19:55147134 [GRCh38] Chr19:55658502 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.310-4C>A |
single nucleotide variant |
not specified [RCV000610330] |
Chr19:55140964 [GRCh38] Chr19:55652332 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-11_388-8del |
deletion |
Nemaline myopathy 5 [RCV000641946] |
Chr19:55138082..55138085 [GRCh38] Chr19:55649450..55649453 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_003283.6(TNNT1):c.501+18_501+19del |
deletion |
not specified [RCV000614009] |
Chr19:55137942..55137943 [GRCh38] Chr19:55649310..55649311 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.46G>C (p.Glu16Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641954]|not specified [RCV000608751] |
Chr19:55147008 [GRCh38] Chr19:55658376 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000531999] |
Chr19:55137179 [GRCh38] Chr19:55648547 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000641950] |
Chr19:55133890 [GRCh38] Chr19:55645258 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.(?_55140863)_(55141322_?)del |
deletion |
Nemaline myopathy 5 [RCV000641955] |
Chr19:55140863..55141322 [GRCh38] Chr19:55652231..55652690 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3 |
copy number gain |
not provided [RCV000684091] |
Chr19:53867570..55833460 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 |
copy number gain |
not provided [RCV000684095] |
Chr19:54196216..58759679 [GRCh37] Chr19:19q13.42-13.43 |
pathogenic |
NM_003283.6(TNNT1):c.502-2A>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV000689648] |
Chr19:55137214 [GRCh38] Chr19:55648582 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000704280] |
Chr19:55137206 [GRCh38] Chr19:55648574 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000695374] |
Chr19:55147147 [GRCh38] Chr19:55658515 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.515G>A (p.Arg172His) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000695463] |
Chr19:55137199 [GRCh38] Chr19:55648567 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.(?_55140863)_(55147177_?)del |
deletion |
Nemaline myopathy 5 [RCV000708173] |
Chr19:55140863..55147177 [GRCh38] Chr19:55652231..55658545 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 |
copy number gain |
not provided [RCV000740208] |
Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_003283.6(TNNT1):c.309+1G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV003230283]|not provided [RCV001529807] |
Chr19:55141185 [GRCh38] Chr19:55652553 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.*160C>G |
single nucleotide variant |
not provided [RCV001533936] |
Chr19:55132755 [GRCh38] Chr19:55644123 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.612-216G>A |
single nucleotide variant |
not provided [RCV001545811] |
Chr19:55134420 [GRCh38] Chr19:55645788 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.345C>A (p.Arg115=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001424766] |
Chr19:55140925 [GRCh38] Chr19:55652293 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001061613] |
Chr19:55137103 [GRCh38] Chr19:55648471 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42(chr19:55652193-55665240) |
copy number loss |
Nemaline myopathy 5 [RCV000767680] |
Chr19:55652193..55665240 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001051611] |
Chr19:55137152 [GRCh38] Chr19:55648520 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.(?_55140873)_(55151927_?)del |
deletion |
Hypertrophic cardiomyopathy [RCV001031103] |
Chr19:55652241..55663295 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.33-7T>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV001040022] |
Chr19:55147028 [GRCh38] Chr19:55658396 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.33-5C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV000800388] |
Chr19:55147026 [GRCh38] Chr19:55658394 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_003283.6(TNNT1):c.87G>A (p.Pro29=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000873839]|not provided [RCV003411859] |
Chr19:55146453 [GRCh38] Chr19:55657821 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.73+10C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV001461292] |
Chr19:55146671 [GRCh38] Chr19:55658039 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.486C>T (p.Gly162=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001406964] |
Chr19:55137976 [GRCh38] Chr19:55649344 [GRCh37] Chr19:19q13.42 |
likely benign |
NC_000019.10:g.55145673C>A |
single nucleotide variant |
not provided [RCV000831842] |
Chr19:55657041 [GRCh37] Chr19:19q13.42 |
benign |
NC_000019.10:g.55133238G>T |
single nucleotide variant |
not provided [RCV000827942] |
Chr19:55644606 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.387G>A (p.Ala129=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000817321] |
Chr19:55140883 [GRCh38] Chr19:55652251 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.388-260C>G |
single nucleotide variant |
not provided [RCV000831998] |
Chr19:55138334 [GRCh38] Chr19:55649702 [GRCh37] Chr19:19q13.42 |
benign |
NC_000019.10:g.55141344G>C |
single nucleotide variant |
not provided [RCV000832020] |
Chr19:55652712 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000813479] |
Chr19:55134185 [GRCh38] Chr19:55645553 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000807626] |
Chr19:55147142 [GRCh38] Chr19:55658510 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.55133074G>A |
single nucleotide variant |
not provided [RCV000829380] |
Chr19:55644442 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.106+7G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV000959831] |
Chr19:55146427 [GRCh38] Chr19:55657795 [GRCh37] Chr19:19q13.42 |
likely benign |
NC_000019.9:g.(?_55644273)_(55768277_?)dup |
duplication |
Hypertrophic cardiomyopathy [RCV000803281]|Nemaline myopathy 5 [RCV001319583] |
Chr19:55132905..55256909 [GRCh38] Chr19:55644273..55768277 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.200A>C (p.His67Pro) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000791771] |
Chr19:55141295 [GRCh38] Chr19:55652663 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.47-92C>G |
single nucleotide variant |
not provided [RCV000829913] |
Chr19:55146799 [GRCh38] Chr19:55658167 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.106+67G>A |
single nucleotide variant |
not provided [RCV000833748] |
Chr19:55146367 [GRCh38] Chr19:55657735 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.193-174T>A |
single nucleotide variant |
not provided [RCV000833749] |
Chr19:55141476 [GRCh38] Chr19:55652844 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.501+71C>T |
single nucleotide variant |
not provided [RCV000837994] |
Chr19:55137890 [GRCh38] Chr19:55649258 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000799409] |
Chr19:55133914 [GRCh38] Chr19:55645282 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.(?_55140873)_(55147167_?)del |
deletion |
Nemaline myopathy 5 [RCV000817940] |
Chr19:55140873..55147167 [GRCh38] Chr19:55652241..55658535 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.107-136A>T |
single nucleotide variant |
not provided [RCV000831536] |
Chr19:55145701 [GRCh38] Chr19:55657069 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000798563] |
Chr19:55141892 [GRCh38] Chr19:55653260 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.-11-161T>C |
single nucleotide variant |
not provided [RCV000829516] |
Chr19:55147329 [GRCh38] Chr19:55658697 [GRCh37] Chr19:19q13.42 |
benign |
NC_000019.10:g.(?_55140863)_(55151937_?)del |
deletion |
Nemaline myopathy 5 [RCV000806573] |
Chr19:55140863..55151937 [GRCh38] Chr19:55652231..55663305 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002558289]|Nemaline myopathy 5 [RCV001134780] |
Chr19:55137975 [GRCh38] Chr19:55649343 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000792243] |
Chr19:55137184 [GRCh38] Chr19:55648552 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.55141390A>G |
single nucleotide variant |
not provided [RCV000829377] |
Chr19:55652758 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.502-177A>G |
single nucleotide variant |
not provided [RCV000829379] |
Chr19:55137389 [GRCh38] Chr19:55648757 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.139G>A (p.Val47Met) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000821380] |
Chr19:55141910 [GRCh38] Chr19:55653278 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.612-228A>G |
single nucleotide variant |
not provided [RCV000837191] |
Chr19:55134432 [GRCh38] Chr19:55645800 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-151T>G |
single nucleotide variant |
not provided [RCV000829378] |
Chr19:55138225 [GRCh38] Chr19:55649593 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.-11-156C>G |
single nucleotide variant |
not provided [RCV000829517] |
Chr19:55147324 [GRCh38] Chr19:55658692 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.129-5C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV000809733] |
Chr19:55141925 [GRCh38] Chr19:55653293 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.47-147A>G |
single nucleotide variant |
not provided [RCV000829912] |
Chr19:55146854 [GRCh38] Chr19:55658222 [GRCh37] Chr19:19q13.42 |
benign |
NC_000019.10:g.55136902G>A |
single nucleotide variant |
not provided [RCV000829931] |
Chr19:55648270 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.387+152G>A |
single nucleotide variant |
not provided [RCV000839190] |
Chr19:55140731 [GRCh38] Chr19:55652099 [GRCh37] Chr19:19q13.42 |
likely benign |
GRCh37/hg19 19q13.42(chr19:55508564-55665523)x3 |
copy number gain |
not provided [RCV000849140] |
Chr19:55508564..55665523 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001202933] |
Chr19:55137145 [GRCh38] Chr19:55648513 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.32+4A>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV001224737] |
Chr19:55147122 [GRCh38] Chr19:55658490 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001220902] |
Chr19:55137164 [GRCh38] Chr19:55648532 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.695dup (p.Leu233fs) |
duplication |
Nemaline myopathy 5 [RCV001220490] |
Chr19:55134120..55134121 [GRCh38] Chr19:55645488..55645489 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001218001] |
Chr19:55141211 [GRCh38] Chr19:55652579 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001210215] |
Chr19:55141187 [GRCh38] Chr19:55652555 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.256T>C (p.Phe86Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003273485] |
Chr19:55141239 [GRCh38] Chr19:55652607 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.739C>T (p.Gln247Ter) |
single nucleotide variant |
not provided [RCV001092521] |
Chr19:55134077 [GRCh38] Chr19:55645445 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001065128] |
Chr19:55134163 [GRCh38] Chr19:55645531 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_55644283)_(55678016_?)del |
deletion |
Primary ciliary dyskinesia [RCV003105722] |
Chr19:55644283..55678016 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.287T>C (p.Leu96Pro) |
single nucleotide variant |
Nemaline myopathy 5B, autosomal recessive, childhood-onset [RCV003230314] |
Chr19:55141208 [GRCh38] Chr19:55652576 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala) |
single nucleotide variant |
Nemaline myopathy 5C, autosomal dominant [RCV003230316] |
Chr19:55141301 [GRCh38] Chr19:55652669 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003106868] |
Chr19:55138061 [GRCh38] Chr19:55649429 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.-11-250A>G |
single nucleotide variant |
not provided [RCV001571594] |
Chr19:55147418 [GRCh38] Chr19:55658786 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-296G>A |
single nucleotide variant |
not provided [RCV001577414] |
Chr19:55138370 [GRCh38] Chr19:55649738 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.310-105T>A |
single nucleotide variant |
not provided [RCV001548119] |
Chr19:55141065 [GRCh38] Chr19:55652433 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.502-199C>G |
single nucleotide variant |
not provided [RCV001555623] |
Chr19:55137411 [GRCh38] Chr19:55648779 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.387+280G>T |
single nucleotide variant |
not provided [RCV001555632] |
Chr19:55140603 [GRCh38] Chr19:55651971 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.192+97T>C |
single nucleotide variant |
not provided [RCV001611259] |
Chr19:55141760 [GRCh38] Chr19:55653128 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.501+308G>A |
single nucleotide variant |
not provided [RCV001650095] |
Chr19:55137653 [GRCh38] Chr19:55649021 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.792-214A>C |
single nucleotide variant |
not provided [RCV001589625] |
Chr19:55133174 [GRCh38] Chr19:55644542 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-221_388-219dup |
duplication |
not provided [RCV001614077] |
Chr19:55138280..55138281 [GRCh38] Chr19:55649648..55649649 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.751-42G>A |
single nucleotide variant |
not provided [RCV001719415] |
Chr19:55133969 [GRCh38] Chr19:55645337 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.192+74C>T |
single nucleotide variant |
not provided [RCV001719454] |
Chr19:55141783 [GRCh38] Chr19:55653151 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.792-243C>T |
single nucleotide variant |
not provided [RCV001559750] |
Chr19:55133203 [GRCh38] Chr19:55644571 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.561C>T (p.Ser187=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV000928395] |
Chr19:55137153 [GRCh38] Chr19:55648521 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.102G>A (p.Glu34=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001395301] |
Chr19:55146438 [GRCh38] Chr19:55657806 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.834G>A (p.Lys278=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002547226] |
Chr19:55132918 [GRCh38] Chr19:55644286 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001203191] |
Chr19:55137129 [GRCh38] Chr19:55648497 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001244782]|not provided [RCV001760280] |
Chr19:55147132 [GRCh38] Chr19:55658500 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001236614] |
Chr19:55134093 [GRCh38] Chr19:55645461 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001134781] |
Chr19:55140904 [GRCh38] Chr19:55652272 [GRCh37] Chr19:19q13.42 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001209655]|Nemaline myopathy 5C, autosomal dominant [RCV003230280] |
Chr19:55140959 [GRCh38] Chr19:55652327 [GRCh37] Chr19:19q13.42 |
pathogenic|uncertain significance |
NM_003283.6(TNNT1):c.107-112C>G |
single nucleotide variant |
not provided [RCV001551162] |
Chr19:55145677 [GRCh38] Chr19:55657045 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.309+79G>A |
single nucleotide variant |
not provided [RCV001562814] |
Chr19:55141107 [GRCh38] Chr19:55652475 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.792-111G>T |
single nucleotide variant |
not provided [RCV001570312] |
Chr19:55133071 [GRCh38] Chr19:55644439 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003230312] |
Chr19:55147142 [GRCh38] Chr19:55658510 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.387+165T>G |
single nucleotide variant |
not provided [RCV001557979] |
Chr19:55140718 [GRCh38] Chr19:55652086 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) |
insertion |
Nemaline myopathy 5 [RCV000991409] |
Chr19:55137107..55137108 [GRCh38] Chr19:55648475..55648476 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_003283.6(TNNT1):c.791+206T>A |
single nucleotide variant |
not provided [RCV001559443] |
Chr19:55133681 [GRCh38] Chr19:55645049 [GRCh37] Chr19:19q13.42 |
likely benign |
NC_000019.10:g.(?_55132793)_(55132961_55133886)del |
deletion |
Nemaline myopathy 5 [RCV003230310] |
|
pathogenic |
NM_003283.6(TNNT1):c.129-269G>A |
single nucleotide variant |
not provided [RCV001547127] |
Chr19:55142189 [GRCh38] Chr19:55653557 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-267C>T |
single nucleotide variant |
not provided [RCV001671427] |
Chr19:55138341 [GRCh38] Chr19:55649709 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.192+207T>A |
single nucleotide variant |
not provided [RCV001723181] |
Chr19:55141650 [GRCh38] Chr19:55653018 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.387+74_387+75insATTATG |
insertion |
not provided [RCV001636199] |
Chr19:55140808..55140809 [GRCh38] Chr19:55652176..55652177 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.-11-235C>T |
single nucleotide variant |
not provided [RCV001638800] |
Chr19:55147403 [GRCh38] Chr19:55658771 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.791+192dup |
duplication |
not provided [RCV001723085] |
Chr19:55133680..55133681 [GRCh38] Chr19:55645048..55645049 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.129-231A>G |
single nucleotide variant |
not provided [RCV001719412] |
Chr19:55142151 [GRCh38] Chr19:55653519 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.193-24A>C |
single nucleotide variant |
not provided [RCV001581328] |
Chr19:55141326 [GRCh38] Chr19:55652694 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.791+206del |
deletion |
not provided [RCV001656251] |
Chr19:55133681 [GRCh38] Chr19:55645049 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.388-221dup |
duplication |
not provided [RCV001677181] |
Chr19:55138280..55138281 [GRCh38] Chr19:55649648..55649649 [GRCh37] Chr19:19q13.42 |
benign |
NC_000019.10:g.55132607C>G |
single nucleotide variant |
not provided [RCV001586165] |
Chr19:55132607 [GRCh38] Chr19:55643975 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.193-218dup |
duplication |
not provided [RCV001589734] |
Chr19:55141505..55141506 [GRCh38] Chr19:55652873..55652874 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.501+284T>C |
single nucleotide variant |
not provided [RCV001545576] |
Chr19:55137677 [GRCh38] Chr19:55649045 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001129796] |
Chr19:55146681 [GRCh38] Chr19:55658049 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001230480] |
Chr19:55141293 [GRCh38] Chr19:55652661 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.*129C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV001132387] |
Chr19:55132786 [GRCh38] Chr19:55644154 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001236398] |
Chr19:55138002 [GRCh38] Chr19:55649370 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001236473] |
Chr19:55134105 [GRCh38] Chr19:55645473 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001071871] |
Chr19:55140900 [GRCh38] Chr19:55652268 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.*110T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV001132388] |
Chr19:55132805 [GRCh38] Chr19:55644173 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.387+5G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001063603] |
Chr19:55140878 [GRCh38] Chr19:55652246 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.452del (p.Lys151fs) |
deletion |
Nemaline myopathy 5 [RCV001257203] |
Chr19:55138010 [GRCh38] Chr19:55649378 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.353del (p.Thr118fs) |
deletion |
Nemaline myopathy 5 [RCV001260949] |
Chr19:55140917 [GRCh38] Chr19:55652285 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 |
copy number gain |
not provided [RCV001259948] |
Chr19:54334195..56434037 [GRCh37] Chr19:19q13.42-13.43 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 |
copy number gain |
not provided [RCV001259944] |
Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_003283.6(TNNT1):c.263A>G (p.Gln88Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001991068] |
Chr19:55141232 [GRCh38] Chr19:55652600 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.46G>A (p.Glu16Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001998844] |
Chr19:55147008 [GRCh38] Chr19:55658376 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.612-288G>T |
single nucleotide variant |
not provided [RCV001539317] |
Chr19:55134492 [GRCh38] Chr19:55645860 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001260948] |
Chr19:55147157 [GRCh38] Chr19:55658525 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NC_000019.9:g.(?_55644273)_(55768277_?)dup |
duplication |
Hypertrophic cardiomyopathy [RCV001322292]|Nemaline myopathy 5 [RCV001319583] |
Chr19:55644273..55768277 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.309+6C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV001314655] |
Chr19:55141180 [GRCh38] Chr19:55652548 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.-12+102G>C |
single nucleotide variant |
not provided [RCV001786739] |
Chr19:55149059 [GRCh38] Chr19:55660427 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.33-4G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001433303] |
Chr19:55147025 [GRCh38] Chr19:55658393 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.77C>A (p.Pro26His) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001319849] |
Chr19:55146463 [GRCh38] Chr19:55657831 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001329674] |
Chr19:55132926 [GRCh38] Chr19:55644294 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001307668] |
Chr19:55141288 [GRCh38] Chr19:55652656 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.106+4A>G |
single nucleotide variant |
not provided [RCV001311911] |
Chr19:55146430 [GRCh38] Chr19:55657798 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001296511] |
Chr19:55147153 [GRCh38] Chr19:55658521 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.136G>A (p.Val46Met) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001322477] |
Chr19:55141913 [GRCh38] Chr19:55653281 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_55652231)_(55652690_?)del |
deletion |
Nemaline myopathy 5 [RCV001304615] |
Chr19:55652231..55652690 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.116G>A (p.Arg39His) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001350671] |
Chr19:55145556 [GRCh38] Chr19:55656924 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001323758] |
Chr19:55138053 [GRCh38] Chr19:55649421 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001421531] |
Chr19:55134199 [GRCh38] Chr19:55645567 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.310-8T>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001371409] |
Chr19:55140968 [GRCh38] Chr19:55652336 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.183T>G (p.Val61=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001486630] |
Chr19:55141866 [GRCh38] Chr19:55653234 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.219A>G (p.Lys73=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001455722] |
Chr19:55141276 [GRCh38] Chr19:55652644 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.714C>T (p.Phe238=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001488532] |
Chr19:55134102 [GRCh38] Chr19:55645470 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.501+1G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001377635] |
Chr19:55137960 [GRCh38] Chr19:55649328 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.295T>C (p.Leu99=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001448774] |
Chr19:55141200 [GRCh38] Chr19:55652568 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.74-5C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV001407879] |
Chr19:55146471 [GRCh38] Chr19:55657839 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.585T>C (p.Ile195=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001438775] |
Chr19:55137129 [GRCh38] Chr19:55648497 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.309+8G>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV001440393] |
Chr19:55141178 [GRCh38] Chr19:55652546 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.78C>G (p.Pro26=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001447650] |
Chr19:55146462 [GRCh38] Chr19:55657830 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.611+10G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001502340] |
Chr19:55137093 [GRCh38] Chr19:55648461 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.612-4C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV001479220] |
Chr19:55134208 [GRCh38] Chr19:55645576 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.129-240T>C |
single nucleotide variant |
not provided [RCV001669323] |
Chr19:55142160 [GRCh38] Chr19:55653528 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.107-282G>T |
single nucleotide variant |
not provided [RCV001586621] |
Chr19:55145847 [GRCh38] Chr19:55657215 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.756C>T (p.Asn252=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001460418] |
Chr19:55133922 [GRCh38] Chr19:55645290 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.199C>T (p.His67Tyr) |
single nucleotide variant |
not provided [RCV001756332] |
Chr19:55141296 [GRCh38] Chr19:55652664 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.611+1dup |
duplication |
Nemaline myopathy 5 [RCV001783882] |
Chr19:55137101..55137102 [GRCh38] Chr19:55648469..55648470 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.-12+99G>A |
single nucleotide variant |
not provided [RCV001786834] |
Chr19:55149062 [GRCh38] Chr19:55660430 [GRCh37] Chr19:19q13.42 |
likely benign |
NC_000019.10:g.55149223_55149224insA |
insertion |
not provided [RCV001786913] |
Chr19:55149223..55149224 [GRCh38] Chr19:55660591..55660592 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.-12+224C>T |
single nucleotide variant |
not provided [RCV001786942] |
Chr19:55148937 [GRCh38] Chr19:55660305 [GRCh37] Chr19:19q13.42 |
likely benign |
NC_000019.10:g.55149294A>G |
single nucleotide variant |
not provided [RCV001787637] |
Chr19:55149294 [GRCh38] Chr19:55660662 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.78del (p.Glu27fs) |
deletion |
Nemaline myopathy 5 [RCV002037641] |
Chr19:55146462 [GRCh38] Chr19:55657830 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.71A>G (p.Glu24Gly) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002040512] |
Chr19:55146683 [GRCh38] Chr19:55658051 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.565C>T (p.Arg189Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002042039] |
Chr19:55137149 [GRCh38] Chr19:55648517 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002050197] |
Chr19:55134175 [GRCh38] Chr19:55645543 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002005744] |
Chr19:55137132 [GRCh38] Chr19:55648500 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002023602] |
Chr19:55134158 [GRCh38] Chr19:55645526 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1 |
copy number loss |
not provided [RCV001834407] |
Chr19:55247893..56503347 [GRCh37] Chr19:19q13.42-13.43 |
likely pathogenic |
NM_003283.6(TNNT1):c.612-14G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002004280] |
Chr19:55134218 [GRCh38] Chr19:55645586 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.387+1G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002022273] |
Chr19:55140882 [GRCh38] Chr19:55652250 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002025717] |
Chr19:55132959 [GRCh38] Chr19:55644327 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002010879] |
Chr19:55134172 [GRCh38] Chr19:55645540 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.256T>G (p.Phe86Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002043177] |
Chr19:55141239 [GRCh38] Chr19:55652607 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002049639] |
Chr19:55134116 [GRCh38] Chr19:55645484 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.536G>A (p.Arg179Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002048368] |
Chr19:55137178 [GRCh38] Chr19:55648546 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.304C>A (p.Arg102Ser) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001989159] |
Chr19:55141191 [GRCh38] Chr19:55652559 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.815G>A (p.Arg272His) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001908972] |
Chr19:55132937 [GRCh38] Chr19:55644305 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.94G>T (p.Val32Leu) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001978191] |
Chr19:55146446 [GRCh38] Chr19:55657814 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_55652231)_(55658525_?)del |
deletion |
Nemaline myopathy 5 [RCV001950794] |
Chr19:55652231..55658525 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.551G>A (p.Arg184His) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001894871] |
Chr19:55137163 [GRCh38] Chr19:55648531 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_55652544)_(55656943_?)del |
deletion |
Nemaline myopathy 5 [RCV001926033] |
Chr19:55652544..55656943 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.73+6G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001955621] |
Chr19:55146675 [GRCh38] Chr19:55658043 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001929005] |
Chr19:55133909 [GRCh38] Chr19:55645277 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001972397] |
Chr19:55138047 [GRCh38] Chr19:55649415 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001979682] |
Chr19:55140950 [GRCh38] Chr19:55652318 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.10:g.55149387_55149388insT |
insertion |
not provided [RCV002034792] |
Chr19:55149387..55149388 [GRCh38] Chr19:55660755..55660756 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.81A>T (p.Glu27Asp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001978740] |
Chr19:55146459 [GRCh38] Chr19:55657827 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.128+5G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV001935931] |
Chr19:55145539 [GRCh38] Chr19:55656907 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54297303)_(55678016_?)dup |
duplication |
not provided [RCV001981426] |
Chr19:54297303..55678016 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.89A>T (p.Glu30Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001922519] |
Chr19:55146451 [GRCh38] Chr19:55657819 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002569232]|Nemaline myopathy 5 [RCV001959247] |
Chr19:55134169 [GRCh38] Chr19:55645537 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.554T>C (p.Ile185Thr) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001906387] |
Chr19:55137160 [GRCh38] Chr19:55648528 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.319C>T (p.Arg107Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001887786] |
Chr19:55140951 [GRCh38] Chr19:55652319 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.592A>G (p.Met198Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001944996] |
Chr19:55137122 [GRCh38] Chr19:55648490 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001917217] |
Chr19:55134200 [GRCh38] Chr19:55645568 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.817G>A (p.Val273Ile) |
single nucleotide variant |
Nemaline myopathy 5 [RCV001954549] |
Chr19:55132935 [GRCh38] Chr19:55644303 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.310-9G>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002107262] |
Chr19:55140969 [GRCh38] Chr19:55652337 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.47-9C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002125462] |
Chr19:55146716 [GRCh38] Chr19:55658084 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.128+9C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002110486] |
Chr19:55145535 [GRCh38] Chr19:55656903 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.751-4G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002207519] |
Chr19:55133931 [GRCh38] Chr19:55645299 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.501+16G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002111116] |
Chr19:55137945 [GRCh38] Chr19:55649313 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.32+12A>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002126769] |
Chr19:55147114 [GRCh38] Chr19:55658482 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-9T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002147630] |
Chr19:55138083 [GRCh38] Chr19:55649451 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.193-6C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002169720] |
Chr19:55141308 [GRCh38] Chr19:55652676 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.33-15C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002104554] |
Chr19:55147036 [GRCh38] Chr19:55658404 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.192+18C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002195100] |
Chr19:55141839 [GRCh38] Chr19:55653207 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.129-6A>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002173399] |
Chr19:55141926 [GRCh38] Chr19:55653294 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.93G>T (p.Pro31=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002116192] |
Chr19:55146447 [GRCh38] Chr19:55657815 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.747T>C (p.Tyr249=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002113856] |
Chr19:55134069 [GRCh38] Chr19:55645437 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.309+18G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002113862] |
Chr19:55141168 [GRCh38] Chr19:55652536 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.750+16G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002212530] |
Chr19:55134050 [GRCh38] Chr19:55645418 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.751-16T>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002076890] |
Chr19:55133943 [GRCh38] Chr19:55645311 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.791+13G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002132629] |
Chr19:55133874 [GRCh38] Chr19:55645242 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.73+16C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002152319] |
Chr19:55146665 [GRCh38] Chr19:55658033 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.107-14C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002078805] |
Chr19:55145579 [GRCh38] Chr19:55656947 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.107-9C>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002080088] |
Chr19:55145574 [GRCh38] Chr19:55656942 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.804A>G (p.Ala268=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002091402] |
Chr19:55132948 [GRCh38] Chr19:55644316 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.74-8dup |
duplication |
Nemaline myopathy 5 [RCV002085896] |
Chr19:55146473..55146474 [GRCh38] Chr19:55657841..55657842 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.107-11A>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002085897] |
Chr19:55145576 [GRCh38] Chr19:55656944 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.681G>A (p.Ser227=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002126679] |
Chr19:55134135 [GRCh38] Chr19:55645503 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.12C>G (p.Thr4=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002112236] |
Chr19:55147146 [GRCh38] Chr19:55658514 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.387+14C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002137394] |
Chr19:55140869 [GRCh38] Chr19:55652237 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.502-17G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002141431] |
Chr19:55137229 [GRCh38] Chr19:55648597 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.804A>C (p.Ala268=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002160554] |
Chr19:55132948 [GRCh38] Chr19:55644316 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.107-16C>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002160791] |
Chr19:55145581 [GRCh38] Chr19:55656949 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.558C>G (p.Leu186=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002083217] |
Chr19:55137156 [GRCh38] Chr19:55648524 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-5C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002203551] |
Chr19:55138079 [GRCh38] Chr19:55649447 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.816C>T (p.Arg272=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002183620] |
Chr19:55132936 [GRCh38] Chr19:55644304 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.174G>A (p.Gly58=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002201564] |
Chr19:55141875 [GRCh38] Chr19:55653243 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.106+18G>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV003111802] |
Chr19:55146416 [GRCh38] Chr19:55657784 [GRCh37] Chr19:19q13.42 |
likely benign |
NC_000019.9:g.(?_55644283)_(55668957_?)dup |
duplication |
Nemaline myopathy 5 [RCV003113249] |
Chr19:55644283..55668957 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003115710]|not provided [RCV003481449] |
Chr19:55134197 [GRCh38] Chr19:55645565 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.726G>A (p.Ala242=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003115797] |
Chr19:55134090 [GRCh38] Chr19:55645458 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-1G>A |
single nucleotide variant |
not provided [RCV002246201] |
Chr19:55138075 [GRCh38] Chr19:55649443 [GRCh37] Chr19:19q13.42 |
not provided |
NM_003283.6(TNNT1):c.310-5C>A |
single nucleotide variant |
Myopathy [RCV002259414] |
Chr19:55140965 [GRCh38] Chr19:55652333 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.611+1G>A |
single nucleotide variant |
Nemaline myopathy 5B, autosomal recessive, childhood-onset [RCV003230313] |
Chr19:55137102 [GRCh38] Chr19:55648470 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.724G>C (p.Ala242Pro) |
single nucleotide variant |
Nemaline myopathy 5B, autosomal recessive, childhood-onset [RCV003230315] |
Chr19:55134092 [GRCh38] Chr19:55645460 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1 |
copy number loss |
not provided [RCV002279751] |
Chr19:55434660..56463734 [GRCh37] Chr19:19q13.42-13.43 |
uncertain significance |
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002296927] |
Chr19:55134070 [GRCh38] Chr19:55645438 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.91C>T (p.Pro31Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003299842] |
Chr19:55146449 [GRCh38] Chr19:55657817 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3 |
copy number gain |
not provided [RCV002473753] |
Chr19:55642778..55932200 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003230311] |
Chr19:55140936 [GRCh38] Chr19:55652304 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002295655] |
Chr19:55140894 [GRCh38] Chr19:55652262 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.61dup (p.Glu21fs) |
duplication |
Nemaline myopathy 5 [RCV003014820] |
Chr19:55146692..55146693 [GRCh38] Chr19:55658060..55658061 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.742A>T (p.Lys248Ter) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002510716] |
Chr19:55134074 [GRCh38] Chr19:55645442 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.387+13C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002991532] |
Chr19:55140870 [GRCh38] Chr19:55652238 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002975035] |
Chr19:55141903 [GRCh38] Chr19:55653271 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.107-10C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV003073716] |
Chr19:55145575 [GRCh38] Chr19:55656943 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002971978] |
Chr19:55138034 [GRCh38] Chr19:55649402 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002816118] |
Chr19:55134190 [GRCh38] Chr19:55645558 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_003283.6(TNNT1):c.46+10G>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002907716] |
Chr19:55146998 [GRCh38] Chr19:55658366 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.193-3C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002663043] |
Chr19:55141305 [GRCh38] Chr19:55652673 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.309+15C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV003080587] |
Chr19:55141171 [GRCh38] Chr19:55652539 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.78C>T (p.Pro26=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002740025] |
Chr19:55146462 [GRCh38] Chr19:55657830 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.123A>G (p.Lys41=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002622445] |
Chr19:55145549 [GRCh38] Chr19:55656917 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.180C>T (p.Arg60=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002620583] |
Chr19:55141869 [GRCh38] Chr19:55653237 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.611+11T>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV003079983] |
Chr19:55137092 [GRCh38] Chr19:55648460 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.193-14C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002637782] |
Chr19:55141316 [GRCh38] Chr19:55652684 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.611+20C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV003079982] |
Chr19:55137083 [GRCh38] Chr19:55648451 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-3C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV003036886] |
Chr19:55138077 [GRCh38] Chr19:55649445 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.327G>A (p.Glu109=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002761636] |
Chr19:55140943 [GRCh38] Chr19:55652311 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.502-9dup |
duplication |
Nemaline myopathy 5 [RCV002870880] |
Chr19:55137220..55137221 [GRCh38] Chr19:55648588..55648589 [GRCh37] Chr19:19q13.42 |
benign |
NM_003283.6(TNNT1):c.192+9C>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV003078356] |
Chr19:55141848 [GRCh38] Chr19:55653216 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002760291] |
Chr19:55134101 [GRCh38] Chr19:55645469 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.502-18C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002909249] |
Chr19:55137230 [GRCh38] Chr19:55648598 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.309+19T>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV002933435] |
Chr19:55141167 [GRCh38] Chr19:55652535 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003085432] |
Chr19:55137200 [GRCh38] Chr19:55648568 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.128+20G>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002918667] |
Chr19:55145524 [GRCh38] Chr19:55656892 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.46+6T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002958948] |
Chr19:55147002 [GRCh38] Chr19:55658370 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.310-2A>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002851100] |
Chr19:55140962 [GRCh38] Chr19:55652330 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.135C>G (p.Pro45=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002890932] |
Chr19:55141914 [GRCh38] Chr19:55653282 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002958482] |
Chr19:55145557 [GRCh38] Chr19:55656925 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.129-16_129-15del |
microsatellite |
Nemaline myopathy 5 [RCV002596124] |
Chr19:55141935..55141936 [GRCh38] Chr19:55653303..55653304 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002740600] |
Chr19:55137125 [GRCh38] Chr19:55648493 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.336G>A (p.Glu112=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002624562] |
Chr19:55140934 [GRCh38] Chr19:55652302 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002711691] |
Chr19:55132953 [GRCh38] Chr19:55644321 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003042657] |
Chr19:55137141 [GRCh38] Chr19:55648509 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.531G>A (p.Thr177=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002602678] |
Chr19:55137183 [GRCh38] Chr19:55648551 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003044345] |
Chr19:55141857 [GRCh38] Chr19:55653225 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.609C>G (p.Leu203=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002746328] |
Chr19:55137105 [GRCh38] Chr19:55648473 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002962186] |
Chr19:55137104 [GRCh38] Chr19:55648472 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.792-6C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002580086] |
Chr19:55132966 [GRCh38] Chr19:55644334 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.612-15C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002717294] |
Chr19:55134219 [GRCh38] Chr19:55645587 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002602188] |
Chr19:55137130 [GRCh38] Chr19:55648498 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.611+20C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002578831] |
Chr19:55137083 [GRCh38] Chr19:55648451 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002721867] |
Chr19:55134082 [GRCh38] Chr19:55645450 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.642G>A (p.Gln214=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002944047] |
Chr19:55134174 [GRCh38] Chr19:55645542 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.47-11C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV002943004] |
Chr19:55146718 [GRCh38] Chr19:55658086 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.33-12A>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV002814504] |
Chr19:55147033 [GRCh38] Chr19:55658401 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.696G>A (p.Gln232=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV002654925] |
Chr19:55134120 [GRCh38] Chr19:55645488 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.309+15C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV003072037] |
Chr19:55141171 [GRCh38] Chr19:55652539 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.129-16G>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002608190] |
Chr19:55141936 [GRCh38] Chr19:55653304 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.310-20T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV002589578] |
Chr19:55140980 [GRCh38] Chr19:55652348 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.107-12C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV003068941] |
Chr19:55145577 [GRCh38] Chr19:55656945 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003073014] |
Chr19:55134200 [GRCh38] Chr19:55645568 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.192+2dup |
duplication |
Nemaline myopathy 5 [RCV003226143] |
Chr19:55141854..55141855 [GRCh38] Chr19:55653222..55653223 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.32+1G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV003132916] |
Chr19:55147125 [GRCh38] Chr19:55658493 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.386C>T (p.Ala129Val) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003141057] |
Chr19:55140884 [GRCh38] Chr19:55652252 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.518G>A (p.Gly173Asp) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003141058] |
Chr19:55137196 [GRCh38] Chr19:55648564 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.524G>A (p.Arg175Gln) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003141059] |
Chr19:55137190 [GRCh38] Chr19:55648558 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.74-67C>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV003226144] |
Chr19:55146533 [GRCh38] Chr19:55657901 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.178C>T (p.Arg60Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003385550] |
Chr19:55141871 [GRCh38] Chr19:55653239 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 |
copy number gain |
not provided [RCV003485200] |
Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43 |
likely pathogenic |
NM_003283.6(TNNT1):c.258C>T (p.Phe86=) |
single nucleotide variant |
not provided [RCV003415453] |
Chr19:55141237 [GRCh38] Chr19:55652605 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.272_281del (p.Lys91fs) |
deletion |
Nemaline myopathy 5 [RCV003445290] |
Chr19:55141214..55141223 [GRCh38] Chr19:55652582..55652591 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003518343] |
Chr19:55141194 [GRCh38] Chr19:55652562 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.107-9C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV003518268] |
Chr19:55145574 [GRCh38] Chr19:55656942 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.822A>T (p.Gly274=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003518541] |
Chr19:55132930 [GRCh38] Chr19:55644298 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.798G>A (p.Lys266=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003831481] |
Chr19:55132954 [GRCh38] Chr19:55644322 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.435G>A (p.Glu145=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003878337] |
Chr19:55138027 [GRCh38] Chr19:55649395 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.54T>G (p.Ala18=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003516937] |
Chr19:55146700 [GRCh38] Chr19:55658068 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.502-16C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV003517535] |
Chr19:55137228 [GRCh38] Chr19:55648596 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.20_32+2dup |
duplication |
not provided [RCV003491677] |
Chr19:55147123..55147124 [GRCh38] Chr19:55658491..55658492 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_003283.6(TNNT1):c.751-6C>G |
single nucleotide variant |
Nemaline myopathy 5 [RCV003634741] |
Chr19:55133933 [GRCh38] Chr19:55645301 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.168A>G (p.Pro56=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003635245] |
Chr19:55141881 [GRCh38] Chr19:55653249 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.74-18C>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV003635296] |
Chr19:55146484 [GRCh38] Chr19:55657852 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.408A>G (p.Glu136=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003634174] |
Chr19:55138054 [GRCh38] Chr19:55649422 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.33-1G>A |
single nucleotide variant |
Nemaline myopathy 5 [RCV003632985] |
Chr19:55147022 [GRCh38] Chr19:55658390 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_003283.6(TNNT1):c.42G>A (p.Pro14=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003634392] |
Chr19:55147012 [GRCh38] Chr19:55658380 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.388-16C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV003634492] |
Chr19:55138090 [GRCh38] Chr19:55649458 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.310-18T>C |
single nucleotide variant |
Nemaline myopathy 5 [RCV003633303] |
Chr19:55140978 [GRCh38] Chr19:55652346 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.751-8del |
deletion |
Nemaline myopathy 5 [RCV003518701] |
Chr19:55133935 [GRCh38] Chr19:55645303 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.74-7_74-4del |
deletion |
Nemaline myopathy 5 [RCV003633166] |
Chr19:55146470..55146473 [GRCh38] Chr19:55657838..55657841 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.6G>C (p.Ser2=) |
single nucleotide variant |
Nemaline myopathy 5 [RCV003634091] |
Chr19:55147152 [GRCh38] Chr19:55658520 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.387+14_387+19del |
deletion |
Nemaline myopathy 5 [RCV003634623] |
Chr19:55140864..55140869 [GRCh38] Chr19:55652232..55652237 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_003283.6(TNNT1):c.74-9C>T |
single nucleotide variant |
Nemaline myopathy 5 [RCV003634124] |
Chr19:55146475 [GRCh38] Chr19:55657843 [GRCh37] Chr19:19q13.42 |
likely benign |