NM_031448.6(C19orf12):c.121G>A (p.Val41Ile) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000550717] |
Chr19:29708293 [GRCh38] Chr19:30199200 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.182dup (p.Leu61fs) |
duplication |
Neurodegeneration with brain iron accumulation 4 [RCV001548764] |
Chr19:29702955..29702956 [GRCh38] Chr19:30193862..30193863 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.238C>T (p.Leu80=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001428225] |
Chr19:29702900 [GRCh38] Chr19:30193807 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) |
deletion |
C19orf12-related disorder [RCV003904862]|Hereditary spastic paraplegia 43 [RCV001044832]|Neurodegeneration with brain iron accumulation 4 [RCV000024151]|Neurodegeneration with brain iron accumulation 4 [RCV005016293]|Neurodegeneration with brain iron accumulation [RCV003155040]|not provided [RCV001781311] |
Chr19:29702957..29702967 [GRCh38] Chr19:30193864..30193874 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.-2C>T |
single nucleotide variant |
Abnormality of iron homeostasis [RCV001004003]|Hereditary spastic paraplegia 43 [RCV003743545]|Neurodegeneration with brain iron accumulation 4 [RCV000024152]|Neurodegeneration with brain iron accumulation 4 [RCV005016294]|Neurodegeneration with brain iron accumulation [RCV004700277]|not provided [RCV000426086] |
Chr19:29708415 [GRCh38] Chr19:30199322 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) |
single nucleotide variant |
Dystonic disorder [RCV000414809]|Hereditary spastic paraplegia 43 [RCV000528859]|Neurodegeneration with brain iron accumulation 4 [RCV000024153]|Neurodegeneration with brain iron accumulation 4 [RCV005016295]|Neurodegeneration with brain iron accumulation [RCV003230372]|not provided [RCV001781312] |
Chr19:29702966 [GRCh38] Chr19:30193873 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) |
single nucleotide variant |
Dystonic disorder [RCV000415210]|Hereditary spastic paraplegia 43 [RCV001083182]|Hereditary spastic paraplegia 5A [RCV000714889]|Hereditary spastic paraplegia [RCV001847623]|Neurodegeneration with brain iron accumulation 4 [RCV000024154]|Neurodegeneration with brain iron accumulation 4 [RCV000509226]|not provided [RCV000553096]|not specified [RCV001844017] |
Chr19:29702747 [GRCh38] Chr19:30193654 [GRCh37] Chr19:19q12 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided |
NM_031448.6(C19orf12):c.362T>A (p.Leu121Gln) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000024323] |
Chr19:29702776 [GRCh38] Chr19:30193683 [GRCh37] Chr19:19q12 |
pathogenic |
NM_001031726.4(C19orf12):c.164_166delGGG |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000074455]|Neurodegeneration with brain iron accumulation 4 [RCV005016359]|Neurodegeneration with brain iron accumulation [RCV002265593]|Neurofibromatosis, type 1 [RCV004562242]|not provided [RCV001311507] |
Chr19:29702972..29702974 [GRCh38] Chr19:30193879..30193881 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000074453]|Neurodegeneration with brain iron accumulation 4 [RCV000074454]|Neurodegeneration with brain iron accumulation 4 [RCV005025116]|not provided [RCV000493663] |
Chr19:29708260 [GRCh38] Chr19:30199167 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 |
copy number gain |
See cases [RCV000050635] |
Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11 |
pathogenic |
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001510121]|Neurodegeneration with brain iron accumulation 4 [RCV000259545]|not provided [RCV004716951]|not specified [RCV000116507] |
Chr19:29702814 [GRCh38] Chr19:30193721 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000460848]|Hereditary spastic paraplegia [RCV001847678]|Neurodegeneration with brain iron accumulation 4 [RCV000356548]|not provided [RCV004716952]|not specified [RCV000116508] |
Chr19:29702746 [GRCh38] Chr19:30193653 [GRCh37] Chr19:19q12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001031726.3(C19orf12):c.204_214del11 (p.Gly69Argfs) |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000119028] |
Chr19:29702957..29702967 [GRCh38] Chr19:30193864..30193874 [GRCh37] Chr19:19q12 |
pathogenic |
NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) |
single nucleotide variant |
Dystonia [RCV000414809]|Mental deterioration [RCV000414809]|Neurodegeneration with brain iron accumulation 4 [RCV000119029]|Spastic paraplegia 43, autosomal recessive [RCV000528859] |
Chr19:29702966 [GRCh38] Chr19:30193873 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.138C>T (p.Gly46=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002573253]|not provided [RCV001579641] |
Chr19:29708276 [GRCh38] Chr19:30199183 [GRCh37] Chr19:19q12 |
likely benign |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 |
copy number loss |
See cases [RCV000135879] |
Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 |
copy number loss |
See cases [RCV000136794] |
Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh38/hg38 19q12(chr19:29686202-29751260)x3 |
copy number gain |
See cases [RCV000140172] |
Chr19:29686202..29751260 [GRCh38] Chr19:30177109..30242167 [GRCh37] Chr19:34868949..34934007 [NCBI36] Chr19:19q12 |
likely benign |
GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1 |
copy number loss |
See cases [RCV000141953] |
Chr19:29051888..31967596 [GRCh38] Chr19:29542795..32458502 [GRCh37] Chr19:34234635..37150342 [NCBI36] Chr19:19q12-13.11 |
likely pathogenic|uncertain significance |
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 |
copy number gain |
See cases [RCV000143705] |
Chr19:27780238..34783942 [GRCh38] Chr19:28271146..35274846 [GRCh37] Chr19:32962986..39966686 [NCBI36] Chr19:19q11-13.11 |
uncertain significance |
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001231447]|Hereditary spastic paraplegia [RCV000516097]|Neurodegeneration [RCV000162119]|Neurodegeneration with brain iron accumulation [RCV003479030]|not provided [RCV000292174] |
Chr19:29708290 [GRCh38] Chr19:30199197 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic|uncertain significance |
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs) |
indel |
Neurodegeneration with brain iron accumulation 4 [RCV000194885] |
Chr19:29702912..29702913 [GRCh38] Chr19:30193819..30193820 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000211114] |
Chr19:29702923 [GRCh38] Chr19:30193830 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.216G>A (p.Pro72=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000231698]|Neurodegeneration with brain iron accumulation 4 [RCV000298293]|not provided [RCV001705248] |
Chr19:29702922 [GRCh38] Chr19:30193829 [GRCh37] Chr19:19q12 |
benign|likely benign|uncertain significance |
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000229001]|Hereditary spastic paraplegia [RCV001847954]|Neurodegeneration with brain iron accumulation 4 [RCV000277296]|not provided [RCV001090561]|not specified [RCV000295642] |
Chr19:29708345 [GRCh38] Chr19:30199252 [GRCh37] Chr19:19q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031448.6(C19orf12):c.*1020del |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000268497] |
Chr19:29701692 [GRCh38] Chr19:30192599 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*3372C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000304996] |
Chr19:29699340 [GRCh38] Chr19:30190247 [GRCh37] Chr19:19q12 |
benign|uncertain significance |
NM_031448.6(C19orf12):c.*1826G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000272734]|not provided [RCV003221923] |
Chr19:29700886 [GRCh38] Chr19:30191793 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*2961T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000275470]|not provided [RCV004717234] |
Chr19:29699751 [GRCh38] Chr19:30190658 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*471G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000293018] |
Chr19:29702241 [GRCh38] Chr19:30193148 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*1170C>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000295945] |
Chr19:29701542 [GRCh38] Chr19:30192449 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*1362G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000278219] |
Chr19:29701350 [GRCh38] Chr19:30192257 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*718G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000280253] |
Chr19:29701994 [GRCh38] Chr19:30192901 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1145G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000308767]|not provided [RCV004717238] |
Chr19:29701567 [GRCh38] Chr19:30192474 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*3672C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000259471] |
Chr19:29699040 [GRCh38] Chr19:30189947 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-10-12T>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000270466] |
Chr19:29708435 [GRCh38] Chr19:30199342 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3337G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000343448] |
Chr19:29699375 [GRCh38] Chr19:30190282 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1144C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000366550]|not provided [RCV004717239] |
Chr19:29701568 [GRCh38] Chr19:30192475 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*2100G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000311441]|not provided [RCV004717235] |
Chr19:29700612 [GRCh38] Chr19:30191519 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000468820]|Hereditary spastic paraplegia [RCV001848060]|Neurodegeneration with brain iron accumulation 4 [RCV001126321]|not provided [RCV000304840]|not specified [RCV003323494] |
Chr19:29702825 [GRCh38] Chr19:30193732 [GRCh37] Chr19:19q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031448.6(C19orf12):c.*2763A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000345008] |
Chr19:29699949 [GRCh38] Chr19:30190856 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*2790dup |
duplication |
Neurodegeneration with brain iron accumulation 4 [RCV000287660] |
Chr19:29699921..29699922 [GRCh38] Chr19:30190828..30190829 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*3217T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000276658] |
Chr19:29699495 [GRCh38] Chr19:30190402 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3571C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000316793] |
Chr19:29699141 [GRCh38] Chr19:30190048 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*1880T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000368472] |
Chr19:29700832 [GRCh38] Chr19:30191739 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*1686T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000325438]|not provided [RCV004717236] |
Chr19:29701026 [GRCh38] Chr19:30191933 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*3399_*3400insA |
insertion |
Neurodegeneration with brain iron accumulation 4 [RCV000397535] |
Chr19:29699312..29699313 [GRCh38] Chr19:30190219..30190220 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*3336C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000397691] |
Chr19:29699376 [GRCh38] Chr19:30190283 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*47T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000397742]|not provided [RCV001539439] |
Chr19:29702665 [GRCh38] Chr19:30193572 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*814G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000320222] |
Chr19:29701898 [GRCh38] Chr19:30192805 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*2222A>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000369584] |
Chr19:29700490 [GRCh38] Chr19:30191397 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2956G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000327453] |
Chr19:29699756 [GRCh38] Chr19:30190663 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*2449G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000280780] |
Chr19:29700263 [GRCh38] Chr19:30191170 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1020C>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000321289]|not provided [RCV004717241] |
Chr19:29701692 [GRCh38] Chr19:30192599 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*791G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000372509] |
Chr19:29701921 [GRCh38] Chr19:30192828 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*3745G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000375115] |
Chr19:29698967 [GRCh38] Chr19:30189874 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2186C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000400351] |
Chr19:29700526 [GRCh38] Chr19:30191433 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*1536T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000284304] |
Chr19:29701176 [GRCh38] Chr19:30192083 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*1592A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000324156] |
Chr19:29701120 [GRCh38] Chr19:30192027 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.-11+181T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000325496]|not provided [RCV000767334]|not specified [RCV000424392] |
Chr19:29714944 [GRCh38] Chr19:30205851 [GRCh37] Chr19:19q12 |
benign|likely benign|uncertain significance|not provided |
NM_031448.6(C19orf12):c.*1557T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000376458] |
Chr19:29701155 [GRCh38] Chr19:30192062 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.-11+124G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000376520]|not provided [RCV004694430] |
Chr19:29715001 [GRCh38] Chr19:30205908 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2691A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000378356] |
Chr19:29700021 [GRCh38] Chr19:30190928 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*2662C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000286484] |
Chr19:29700050 [GRCh38] Chr19:30190957 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*437C>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000287587]|not provided [RCV004717243] |
Chr19:29702275 [GRCh38] Chr19:30193182 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000797968]|Neurodegeneration with brain iron accumulation 4 [RCV000330049]|not provided [RCV003144216] |
Chr19:29708346 [GRCh38] Chr19:30199253 [GRCh37] Chr19:19q12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_031448.6(C19orf12):c.*3402dup |
duplication |
Neurodegeneration with brain iron accumulation 4 [RCV000344474] |
Chr19:29699309..29699310 [GRCh38] Chr19:30190216..30190217 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*437C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000383953] |
Chr19:29702275 [GRCh38] Chr19:30193182 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3463G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000384002] |
Chr19:29699249 [GRCh38] Chr19:30190156 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*1021dup |
duplication |
Neurodegeneration with brain iron accumulation 4 [RCV000360777] |
Chr19:29701690..29701691 [GRCh38] Chr19:30192597..30192598 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.-11+149G>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000290367]|not provided [RCV004703775]|not specified [RCV000601813] |
Chr19:29714976 [GRCh38] Chr19:30205883 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*541G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000332990] |
Chr19:29702171 [GRCh38] Chr19:30193078 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*3096_*3097insG |
insertion |
Neurodegeneration with brain iron accumulation 4 [RCV000334107] |
Chr19:29699615..29699616 [GRCh38] Chr19:30190522..30190523 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*1219C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000335671]|not provided [RCV004717237] |
Chr19:29701493 [GRCh38] Chr19:30192400 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*3417C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000291979] |
Chr19:29699295 [GRCh38] Chr19:30190202 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*2373G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000338193] |
Chr19:29700339 [GRCh38] Chr19:30191246 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*84C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000339223]|not provided [RCV001711943] |
Chr19:29702628 [GRCh38] Chr19:30193535 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*3518C>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000295829] |
Chr19:29699194 [GRCh38] Chr19:30190101 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*2621C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000339130] |
Chr19:29700091 [GRCh38] Chr19:30190998 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1158C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000394776] |
Chr19:29701554 [GRCh38] Chr19:30192461 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1114C>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000394785]|not provided [RCV004717240] |
Chr19:29701598 [GRCh38] Chr19:30192505 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*2526del |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000395667] |
Chr19:29700186 [GRCh38] Chr19:30191093 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*2310C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000395675] |
Chr19:29700402 [GRCh38] Chr19:30191309 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*137G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000397757] |
Chr19:29702575 [GRCh38] Chr19:30193482 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*944A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000359749] |
Chr19:29701768 [GRCh38] Chr19:30192675 [GRCh37] Chr19:19q12 |
benign|uncertain significance |
NM_031448.6(C19orf12):c.*2893G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000384293] |
Chr19:29699819 [GRCh38] Chr19:30190726 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.*881G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000262157]|not provided [RCV004717242] |
Chr19:29701831 [GRCh38] Chr19:30192738 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*2270T>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000298387] |
Chr19:29700442 [GRCh38] Chr19:30191349 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*20G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000299358] |
Chr19:29702692 [GRCh38] Chr19:30193599 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3026G>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000386151] |
Chr19:29699686 [GRCh38] Chr19:30190593 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3288T>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000263834] |
Chr19:29699424 [GRCh38] Chr19:30190331 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_001031726.3(C19orf12):c.*3819T>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000318100] |
Chr19:29698893 [GRCh38] Chr19:30189800 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*3304T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000303860] |
Chr19:29699408 [GRCh38] Chr19:30190315 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*1159C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000348472] |
Chr19:29701553 [GRCh38] Chr19:30192460 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1488T>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000318281] |
Chr19:29701224 [GRCh38] Chr19:30192131 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1671C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000363757] |
Chr19:29701041 [GRCh38] Chr19:30191948 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*500G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000389768] |
Chr19:29702212 [GRCh38] Chr19:30193119 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.*1595G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000266791] |
Chr19:29701117 [GRCh38] Chr19:30192024 [GRCh37] Chr19:19q12 |
uncertain significance |
GRCh37/hg19 19q12(chr19:30162495-30193721)x1 |
copy number loss |
not provided [RCV000752654] |
Chr19:30162495..30193721 [GRCh37] Chr19:19q12 |
benign |
GRCh37/hg19 19q12(chr19:30185697-30189800)x1 |
copy number loss |
not provided [RCV000752656] |
Chr19:30185697..30189800 [GRCh37] Chr19:19q12 |
benign |
GRCh37/hg19 19q12(chr19:30185697-30192475)x1 |
copy number loss |
not provided [RCV000752657] |
Chr19:30185697..30192475 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.244C>T (p.Pro82Ser) |
single nucleotide variant |
not provided [RCV003314830] |
Chr19:29702894 [GRCh38] Chr19:30193801 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000502393]|not provided [RCV000488270] |
Chr19:29702933 [GRCh38] Chr19:30193840 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.*308C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000344971] |
Chr19:29702404 [GRCh38] Chr19:30193311 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*136C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000305089] |
Chr19:29702576 [GRCh38] Chr19:30193483 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3492G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000348367] |
Chr19:29699220 [GRCh38] Chr19:30190127 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+163G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000384687] |
Chr19:29714962 [GRCh38] Chr19:30205869 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1178C>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000405368] |
Chr19:29701534 [GRCh38] Chr19:30192441 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*466G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000350434] |
Chr19:29702246 [GRCh38] Chr19:30193153 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3520C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000387679] |
Chr19:29699192 [GRCh38] Chr19:30190099 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.80A>T (p.His27Leu) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000369500] |
Chr19:29708334 [GRCh38] Chr19:30199241 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1037A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000308402] |
Chr19:29701675 [GRCh38] Chr19:30192582 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+120T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000286596] |
Chr19:29715005 [GRCh38] Chr19:30205912 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3242C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000297905] |
Chr19:29699470 [GRCh38] Chr19:30190377 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3227_*3229del |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000355064] |
Chr19:29699483..29699485 [GRCh38] Chr19:30190390..30190392 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*3294C>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000355778] |
Chr19:29699418 [GRCh38] Chr19:30190325 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+131C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000340501] |
Chr19:29714994 [GRCh38] Chr19:30205901 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1453C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000375038] |
Chr19:29701259 [GRCh38] Chr19:30192166 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_001256047.1(C19orf12):c.*3833T>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000284086] |
Chr19:29698879 [GRCh38] Chr19:30189786 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.204A>T (p.Gly68=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000539152] |
Chr19:29702934 [GRCh38] Chr19:30193841 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val) |
single nucleotide variant |
Global developmental delay [RCV000454138]|Neurodegeneration with brain iron accumulation 4 [RCV001095481]|not provided [RCV000486662] |
Chr19:29702977 [GRCh38] Chr19:30193884 [GRCh37] Chr19:19q12 |
likely pathogenic |
GRCh37/hg19 19q12(chr19:29830628-31395657)x3 |
copy number gain |
See cases [RCV000447509] |
Chr19:29830628..31395657 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-10-5C>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001079722]|not provided [RCV000863913]|not specified [RCV000421274] |
Chr19:29708428 [GRCh38] Chr19:30199335 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000531812]|Hereditary spastic paraplegia [RCV001848752]|Neurodegeneration with brain iron accumulation 4 [RCV001125354]|not provided [RCV001530161]|not specified [RCV000436623] |
Chr19:29702725 [GRCh38] Chr19:30193632 [GRCh37] Chr19:19q12 |
benign|likely benign |
NM_031448.6(C19orf12):c.-11+178C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128370]|not specified [RCV000430320] |
Chr19:29714947 [GRCh38] Chr19:30205854 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.135G>A (p.Val45=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003743714]|not specified [RCV000433974] |
Chr19:29708279 [GRCh38] Chr19:30199186 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2del |
deletion |
Hereditary spastic paraplegia 43 [RCV002527210]|Neurodegeneration with brain iron accumulation 4 [RCV000503280] |
Chr19:29702979 [GRCh38] Chr19:30193886 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic|uncertain significance |
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004023363]|Neurodegeneration with brain iron accumulation 4 [RCV000504170] |
Chr19:29702835 [GRCh38] Chr19:30193742 [GRCh37] Chr19:19q12 |
likely pathogenic|uncertain significance |
NM_031448.6(C19orf12):c.177G>A (p.Gly59=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001457687]|Neurodegeneration with brain iron accumulation 4 [RCV001126322]|not provided [RCV003411449]|not specified [RCV000602670] |
Chr19:29702961 [GRCh38] Chr19:30193868 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
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 |
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 |
NM_031448.6(C19orf12):c.282dup (p.Ile95fs) |
duplication |
Hereditary spastic paraplegia 43 [RCV000538239] |
Chr19:29702855..29702856 [GRCh38] Chr19:30193762..30193763 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.249C>T (p.Ala83=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000868707]|not provided [RCV003420065]|not specified [RCV000612555] |
Chr19:29702889 [GRCh38] Chr19:30193796 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-18C>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002232729]|not specified [RCV000613033] |
Chr19:29702995 [GRCh38] Chr19:30193902 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.270del (p.Asn90fs) |
deletion |
Hereditary spastic paraplegia 43 [RCV000528225] |
Chr19:29702868 [GRCh38] Chr19:30193775 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.123C>T (p.Val41=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000646231] |
Chr19:29708291 [GRCh38] Chr19:30199198 [GRCh37] Chr19:19q12 |
likely benign |
GRCh37/hg19 19q12(chr19:30112378-31939682)x3 |
copy number gain |
See cases [RCV000512411] |
Chr19:30112378..31939682 [GRCh37] Chr19:19q12 |
likely pathogenic |
GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1 |
copy number loss |
See cases [RCV000512455] |
Chr19:28271107..31110233 [GRCh37] Chr19:19q11-12 |
likely pathogenic |
GRCh37/hg19 19q12(chr19:29083484-31804809)x3 |
copy number gain |
not provided [RCV000684093] |
Chr19:29083484..31804809 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.170T>C (p.Val57Ala) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000703222] |
Chr19:29702968 [GRCh38] Chr19:30193875 [GRCh37] Chr19:19q12 |
uncertain significance |
GRCh37/hg19 19q12(chr19:30165314-30199851)x1 |
copy number loss |
not provided [RCV000752655] |
Chr19:30165314..30199851 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.161-2338G>T |
single nucleotide variant |
not provided [RCV001732292] |
Chr19:29705315 [GRCh38] Chr19:30196222 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.-38C>T |
single nucleotide variant |
not provided [RCV001732357] |
Chr19:29715152 [GRCh38] Chr19:30206059 [GRCh37] Chr19:19q12 |
likely benign |
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 |
NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000754628] |
Chr19:29708368 [GRCh38] Chr19:30199275 [GRCh37] Chr19:19q12 |
uncertain significance |
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 |
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000821485]|Neurodegeneration with brain iron accumulation 4 [RCV000754614]|Neurodegeneration with brain iron accumulation [RCV002271579]|not provided [RCV001544960] |
Chr19:29702977 [GRCh38] Chr19:30193884 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.-10G>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV000754615] |
Chr19:29708423 [GRCh38] Chr19:30199330 [GRCh37] Chr19:19q12 |
pathogenic |
GRCh37/hg19 19q12(chr19:30185697-30193721)x1 |
copy number loss |
not provided [RCV000740122] |
Chr19:30185697..30193721 [GRCh37] Chr19:19q12 |
benign |
GRCh37/hg19 19q12(chr19:30185697-30198465)x1 |
copy number loss |
not provided [RCV000740123] |
Chr19:30185697..30198465 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.161-2548A>C |
single nucleotide variant |
not provided [RCV001611674] |
Chr19:29705525 [GRCh38] Chr19:30196432 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002241372]|Neurodegeneration with brain iron accumulation 4 [RCV001548765] |
Chr19:29708329 [GRCh38] Chr19:30199236 [GRCh37] Chr19:19q12 |
likely pathogenic|uncertain significance |
NM_031448.6(C19orf12):c.160+304G>T |
single nucleotide variant |
not provided [RCV001546582] |
Chr19:29707950 [GRCh38] Chr19:30198857 [GRCh37] Chr19:19q12 |
likely benign |
NC_000019.10:g.(?_29702692)_(29714949_?)del |
deletion |
Hereditary spastic paraplegia 43 [RCV001032149] |
Chr19:30193599..30205856 [GRCh37] Chr19:19q12 |
pathogenic|uncertain significance |
NM_031448.6(C19orf12):c.165G>T (p.Gly55=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002235479] |
Chr19:29702973 [GRCh38] Chr19:30193880 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.376G>A (p.Val126Met) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001053477]|not provided [RCV002284459] |
Chr19:29702762 [GRCh38] Chr19:30193669 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+223G>A |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000795811] |
Chr19:29714902 [GRCh38] Chr19:30205809 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.160+107C>T |
single nucleotide variant |
not provided [RCV000835496] |
Chr19:29708147 [GRCh38] Chr19:30199054 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.371dup (p.Met124fs) |
duplication |
Abnormal central motor function [RCV001814233]|Neurodegeneration with brain iron accumulation 4 [RCV000784918]|not provided [RCV002469288] |
Chr19:29702766..29702767 [GRCh38] Chr19:30193673..30193674 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.277G>A (p.Ala93Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000818324] |
Chr19:29702861 [GRCh38] Chr19:30193768 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.232_233del (p.Met78fs) |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000788048] |
Chr19:29702905..29702906 [GRCh38] Chr19:30193812..30193813 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.194_204del (p.Met65fs) |
deletion |
Neurodegeneration with brain iron accumulation 4 [RCV000788049] |
Chr19:29702934..29702944 [GRCh38] Chr19:30193841..30193851 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.306G>A (p.Thr102=) |
single nucleotide variant |
not provided [RCV000871829] |
Chr19:29702832 [GRCh38] Chr19:30193739 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.165G>A (p.Gly55=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV000869606]|not specified [RCV002265905] |
Chr19:29702973 [GRCh38] Chr19:30193880 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.211_212dup (p.Pro72fs) |
duplication |
Hereditary spastic paraplegia 43 [RCV001219285] |
Chr19:29702925..29702926 [GRCh38] Chr19:30193832..30193833 [GRCh37] Chr19:19q12 |
likely pathogenic|uncertain significance |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 |
copy number gain |
not provided [RCV000845733] |
Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
NM_031448.6(C19orf12):c.*3697C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122244] |
Chr19:29699015 [GRCh38] Chr19:30189922 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3091A>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128101] |
Chr19:29699621 [GRCh38] Chr19:30190528 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1870G>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128195] |
Chr19:29700842 [GRCh38] Chr19:30191749 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1840G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128197] |
Chr19:29700872 [GRCh38] Chr19:30191779 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1413G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125249] |
Chr19:29701299 [GRCh38] Chr19:30192206 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*1362G>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125250] |
Chr19:29701350 [GRCh38] Chr19:30192257 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.4(C19orf12):c.-171G>C |
single nucleotide variant |
not provided [RCV001567565] |
Chr19:29715285 [GRCh38] Chr19:30206192 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2534del |
deletion |
not provided [RCV001671196] |
Chr19:29705511 [GRCh38] Chr19:30196418 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*1897A>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126111] |
Chr19:29700815 [GRCh38] Chr19:30191722 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.113T>C (p.Met38Thr) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126323] |
Chr19:29708301 [GRCh38] Chr19:30199208 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.234G>A (p.Met78Ile) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001243141] |
Chr19:29702904 [GRCh38] Chr19:30193811 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3400T>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125017] |
Chr19:29699312 [GRCh38] Chr19:30190219 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3357G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125018] |
Chr19:29699355 [GRCh38] Chr19:30190262 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*281C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125352] |
Chr19:29702431 [GRCh38] Chr19:30193338 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.161-2448C>G |
single nucleotide variant |
not provided [RCV001567615] |
Chr19:29705425 [GRCh38] Chr19:30196332 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002241377]|not provided [RCV001559088]|not specified [RCV003317513] |
Chr19:29702977 [GRCh38] Chr19:30193884 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.161-64G>A |
single nucleotide variant |
not provided [RCV001546066] |
Chr19:29703041 [GRCh38] Chr19:30193948 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2164G>A |
single nucleotide variant |
not provided [RCV001619572] |
Chr19:29705141 [GRCh38] Chr19:30196048 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*2784C>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128102] |
Chr19:29699928 [GRCh38] Chr19:30190835 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*2208G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125141] |
Chr19:29700504 [GRCh38] Chr19:30191411 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1854G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128196] |
Chr19:29700858 [GRCh38] Chr19:30191765 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*1827G>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128198] |
Chr19:29700885 [GRCh38] Chr19:30191792 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1361C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125251] |
Chr19:29701351 [GRCh38] Chr19:30192258 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*1203A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125253] |
Chr19:29701509 [GRCh38] Chr19:30192416 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2384C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125139] |
Chr19:29700328 [GRCh38] Chr19:30191235 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1944A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126109] |
Chr19:29700768 [GRCh38] Chr19:30191675 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1940T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126110] |
Chr19:29700772 [GRCh38] Chr19:30191679 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.371T>C (p.Met124Thr) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126320] |
Chr19:29702767 [GRCh38] Chr19:30193674 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3300C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126003] |
Chr19:29699412 [GRCh38] Chr19:30190319 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3272C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126004] |
Chr19:29699440 [GRCh38] Chr19:30190347 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2117G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126107] |
Chr19:29700595 [GRCh38] Chr19:30191502 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*2778C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122348] |
Chr19:29699934 [GRCh38] Chr19:30190841 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*2732G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122349] |
Chr19:29699980 [GRCh38] Chr19:30190887 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1648C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122466] |
Chr19:29701064 [GRCh38] Chr19:30191971 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*579C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122563] |
Chr19:29702133 [GRCh38] Chr19:30193040 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*554G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122564] |
Chr19:29702158 [GRCh38] Chr19:30193065 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2671A>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122351] |
Chr19:29700041 [GRCh38] Chr19:30190948 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.161-2426del |
deletion |
not provided [RCV001684434] |
Chr19:29705403 [GRCh38] Chr19:30196310 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.161-2425G>T |
single nucleotide variant |
not provided [RCV001650194] |
Chr19:29705402 [GRCh38] Chr19:30196309 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.403dup (p.Ala135fs) |
duplication |
Spastic ataxia [RCV001647155] |
Chr19:29702734..29702735 [GRCh38] Chr19:30193641..30193642 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.161-2427_161-2426del |
deletion |
not provided [RCV001714263] |
Chr19:29705403..29705404 [GRCh38] Chr19:30196310..30196311 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.385G>A (p.Val129Ile) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001069842] |
Chr19:29702753 [GRCh38] Chr19:30193660 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-135G>A |
single nucleotide variant |
not provided [RCV001583496] |
Chr19:29715249 [GRCh38] Chr19:30206156 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.332T>C (p.Val111Ala) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001644555] |
Chr19:29702806 [GRCh38] Chr19:30193713 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001060989] |
Chr19:29702975 [GRCh38] Chr19:30193882 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3352C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125019] |
Chr19:29699360 [GRCh38] Chr19:30190267 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3518C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122245] |
Chr19:29699194 [GRCh38] Chr19:30190101 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2692C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122350] |
Chr19:29700020 [GRCh38] Chr19:30190927 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.*1666G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001122465] |
Chr19:29701046 [GRCh38] Chr19:30191953 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.*3314C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126002] |
Chr19:29699398 [GRCh38] Chr19:30190305 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2207C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126106] |
Chr19:29700505 [GRCh38] Chr19:30191412 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2058T>C |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126108] |
Chr19:29700654 [GRCh38] Chr19:30191561 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1111A>G |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001126219] |
Chr19:29701601 [GRCh38] Chr19:30192508 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-1G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001128369] |
Chr19:29708414 [GRCh38] Chr19:30199321 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*2328G>A |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125140] |
Chr19:29700384 [GRCh38] Chr19:30191291 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*1226C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125252] |
Chr19:29701486 [GRCh38] Chr19:30192393 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001095768] |
Chr19:29702897 [GRCh38] Chr19:30193804 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*5C>T |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV001125353] |
Chr19:29702707 [GRCh38] Chr19:30193614 [GRCh37] Chr19:19q12 |
uncertain significance |
GRCh37/hg19 19q12(chr19:29739728-31053524)x3 |
copy number gain |
not provided [RCV001259935] |
Chr19:29739728..31053524 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.240_241dup (p.Pro81fs) |
duplication |
Neurodegeneration with brain iron accumulation 4 [RCV001261521] |
Chr19:29702896..29702897 [GRCh38] Chr19:30193803..30193804 [GRCh37] Chr19:19q12 |
likely pathogenic |
NM_031448.6(C19orf12):c.26T>G (p.Met9Arg) |
single nucleotide variant |
not provided [RCV001268742] |
Chr19:29708388 [GRCh38] Chr19:30199295 [GRCh37] Chr19:19q12 |
likely pathogenic |
NM_031448.6(C19orf12):c.326C>T (p.Ala109Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001305700] |
Chr19:29702812 [GRCh38] Chr19:30193719 [GRCh37] Chr19:19q12 |
uncertain significance |
NC_000019.9:g.(?_30193609)_(30205846_?)dup |
duplication |
Hereditary spastic paraplegia 43 [RCV001313503] |
Chr19:30193609..30205846 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.312C>T (p.Ala104=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001421551] |
Chr19:29702826 [GRCh38] Chr19:30193733 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.24C>T (p.Ile8=) |
single nucleotide variant |
not provided [RCV001311508] |
Chr19:29708390 [GRCh38] Chr19:30199297 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.384C>T (p.Tyr128=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001431316] |
Chr19:29702754 [GRCh38] Chr19:30193661 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2429_161-2426del |
deletion |
not provided [RCV001610267] |
Chr19:29705403..29705406 [GRCh38] Chr19:30196310..30196313 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.161-2548dup |
duplication |
not provided [RCV001655268] |
Chr19:29705510..29705511 [GRCh38] Chr19:30196417..30196418 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.327G>A (p.Ala109=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001474099]|not provided [RCV001565630] |
Chr19:29702811 [GRCh38] Chr19:30193718 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2428_161-2426del |
deletion |
not provided [RCV001716184] |
Chr19:29705403..29705405 [GRCh38] Chr19:30196310..30196312 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.309C>T (p.Asp103=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237728] |
Chr19:29702829 [GRCh38] Chr19:30193736 [GRCh37] Chr19:19q12 |
likely benign |
NM_001031726.3(C19orf12):c.199dup |
duplication |
Hereditary spastic paraplegia 43 [RCV002237737]|not provided [RCV002293552] |
Chr19:29702971..29702972 [GRCh38] Chr19:30193878..30193879 [GRCh37] Chr19:19q12 |
likely pathogenic|uncertain significance |
NM_031448.6(C19orf12):c.160+9A>G |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237738] |
Chr19:29708245 [GRCh38] Chr19:30199152 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.97C>T (p.Leu33=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237742] |
Chr19:29708317 [GRCh38] Chr19:30199224 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.4A>G (p.Thr2Ala) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237745] |
Chr19:29708410 [GRCh38] Chr19:30199317 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237746] |
Chr19:29708412 [GRCh38] Chr19:30199319 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.401G>A (p.Arg134Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239974]|Neurodegeneration with brain iron accumulation 4 [RCV005017160] |
Chr19:29702737 [GRCh38] Chr19:30193644 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.400C>T (p.Arg134Trp) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239975] |
Chr19:29702738 [GRCh38] Chr19:30193645 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.396G>A (p.Glu132=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239976] |
Chr19:29702742 [GRCh38] Chr19:30193649 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-17G>A |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239977] |
Chr19:29702994 [GRCh38] Chr19:30193901 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.-7C>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239979] |
Chr19:29708420 [GRCh38] Chr19:30199327 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.-11+204G>A |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239980] |
Chr19:29714921 [GRCh38] Chr19:30205828 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002539775]|Neurodegeneration with brain iron accumulation 4 [RCV001725849] |
Chr19:29702870 [GRCh38] Chr19:30193777 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.4(C19orf12):c.-385A>G |
single nucleotide variant |
not provided [RCV001732269] |
Chr19:29715499 [GRCh38] Chr19:30206406 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2289G>A |
single nucleotide variant |
not provided [RCV001732729] |
Chr19:29705266 [GRCh38] Chr19:30196173 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.146C>T (p.Pro49Leu) |
single nucleotide variant |
not provided [RCV001762992] |
Chr19:29708268 [GRCh38] Chr19:30199175 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.408G>A (p.Glu136=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002239973] |
Chr19:29702730 [GRCh38] Chr19:30193637 [GRCh37] Chr19:19q12 |
likely benign |
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 |
copy number gain |
Specific learning disability [RCV001801194] |
Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2 |
pathogenic |
NM_031448.6(C19orf12):c.214C>T (p.Pro72Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002236177]|not provided [RCV001816235] |
Chr19:29702924 [GRCh38] Chr19:30193831 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.161-2A>C |
single nucleotide variant |
not provided [RCV001780695] |
Chr19:29702979 [GRCh38] Chr19:30193886 [GRCh37] Chr19:19q12 |
likely pathogenic |
NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV001806376] |
Chr19:29708262 [GRCh38] Chr19:30199169 [GRCh37] Chr19:19q12 |
likely pathogenic |
NM_031448.6(C19orf12):c.166del |
deletion |
Hereditary spastic paraplegia 43 [RCV002236027]|Hereditary spastic paraplegia [RCV001848364]|Neurodegeneration with brain iron accumulation 4 [RCV004770223]|not provided [RCV002473307] |
Chr19:29702972 [GRCh38] Chr19:30193879 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.290G>A (p.Arg97Lys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848366] |
Chr19:29702848 [GRCh38] Chr19:30193755 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.*3C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848363] |
Chr19:29702709 [GRCh38] Chr19:30193616 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.180G>C (p.Leu60=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002543394]|Hereditary spastic paraplegia [RCV001848365] |
Chr19:29702958 [GRCh38] Chr19:30193865 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.59A>G (p.Lys20Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848367] |
Chr19:29708355 [GRCh38] Chr19:30199262 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.294C>G (p.His98Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237730] |
Chr19:29702844 [GRCh38] Chr19:30193751 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.279del (p.Ala94fs) |
deletion |
Hereditary spastic paraplegia 43 [RCV002237731] |
Chr19:29702859 [GRCh38] Chr19:30193766 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.276C>T (p.Ala92=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237732] |
Chr19:29702862 [GRCh38] Chr19:30193769 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237734]|not provided [RCV003883795] |
Chr19:29702917 [GRCh38] Chr19:30193824 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.171C>T (p.Val57=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237735]|not provided [RCV004703263] |
Chr19:29702967 [GRCh38] Chr19:30193874 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.169G>C (p.Val57Leu) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237736] |
Chr19:29702969 [GRCh38] Chr19:30193876 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-6G>A |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237747] |
Chr19:29708419 [GRCh38] Chr19:30199326 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237195]|not provided [RCV002226086] |
Chr19:29702795 [GRCh38] Chr19:30193702 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.406G>A (p.Glu136Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003110367] |
Chr19:29702732 [GRCh38] Chr19:30193639 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+214C>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003115543] |
Chr19:29714911 [GRCh38] Chr19:30205818 [GRCh37] Chr19:19q12 |
uncertain significance |
NC_000019.9:g.(?_30205794)_(30205836_?)del |
deletion |
Hereditary spastic paraplegia 43 [RCV002237678] |
Chr19:30205794..30205836 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.305C>T (p.Thr102Met) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237729] |
Chr19:29702833 [GRCh38] Chr19:30193740 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.240G>T (p.Leu80=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237733] |
Chr19:29702898 [GRCh38] Chr19:30193805 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.160+8C>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237739] |
Chr19:29708246 [GRCh38] Chr19:30199153 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.154G>A (p.Ala52Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237740] |
Chr19:29708260 [GRCh38] Chr19:30199167 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.127G>A (p.Gly43Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237741] |
Chr19:29708287 [GRCh38] Chr19:30199194 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237743]|not specified [RCV002239978] |
Chr19:29708331 [GRCh38] Chr19:30199238 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.68C>A (p.Ala23Glu) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002237744] |
Chr19:29708346 [GRCh38] Chr19:30199253 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-10-12_-10-10del |
deletion |
not provided [RCV003235912] |
Chr19:29708433..29708435 [GRCh38] Chr19:30199340..30199342 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.200G>A (p.Ser67Asn) |
single nucleotide variant |
not provided [RCV002511928] |
Chr19:29702938 [GRCh38] Chr19:30193845 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.342C>T (p.Ser114=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002993534] |
Chr19:29702796 [GRCh38] Chr19:30193703 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.244C>G (p.Pro82Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002708058] |
Chr19:29702894 [GRCh38] Chr19:30193801 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.394G>C (p.Glu132Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003079568] |
Chr19:29702744 [GRCh38] Chr19:30193651 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.334A>G (p.Met112Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002932151] |
Chr19:29702804 [GRCh38] Chr19:30193711 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.215C>A (p.Pro72Gln) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002894968] |
Chr19:29702923 [GRCh38] Chr19:30193830 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.161-13C>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002711252] |
Chr19:29702990 [GRCh38] Chr19:30193897 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.157G>A (p.Val53Ile) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002800973] |
Chr19:29708257 [GRCh38] Chr19:30199164 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+237A>G |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002872628] |
Chr19:29714888 [GRCh38] Chr19:30205795 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.356A>G (p.Gln119Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002852806] |
Chr19:29702782 [GRCh38] Chr19:30193689 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002958121] |
Chr19:29708286 [GRCh38] Chr19:30199193 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-11+197T>G |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002872611] |
Chr19:29714928 [GRCh38] Chr19:30205835 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002628903] |
Chr19:29702791 [GRCh38] Chr19:30193698 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.57del (p.Lys20fs) |
deletion |
Hereditary spastic paraplegia 43 [RCV002933494] |
Chr19:29708357 [GRCh38] Chr19:30199264 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.189C>T (p.Ala63=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002676216] |
Chr19:29702949 [GRCh38] Chr19:30193856 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.147G>A (p.Pro49=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003011399] |
Chr19:29708267 [GRCh38] Chr19:30199174 [GRCh37] Chr19:19q12 |
likely benign|uncertain significance |
NM_031448.6(C19orf12):c.304A>T (p.Thr102Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV002634238] |
Chr19:29702834 [GRCh38] Chr19:30193741 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.412C>A (p.Gln138Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003070107] |
Chr19:29702726 [GRCh38] Chr19:30193633 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.415T>C (p.Tyr139His) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV003154182] |
Chr19:29702723 [GRCh38] Chr19:30193630 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.149G>A (p.Gly50Glu) |
single nucleotide variant |
not provided [RCV003143863] |
Chr19:29708265 [GRCh38] Chr19:30199172 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.210del (p.Phe70fs) |
deletion |
not provided [RCV003139531] |
Chr19:29702928 [GRCh38] Chr19:30193835 [GRCh37] Chr19:19q12 |
likely pathogenic |
NM_031448.6(C19orf12):c.161_170dup (p.Leu60fs) |
duplication |
Hereditary spastic paraplegia 43 [RCV003448884] |
Chr19:29702967..29702968 [GRCh38] Chr19:30193874..30193875 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.267del (p.Phe89fs) |
deletion |
C19orf12-related disorder [RCV003984359]|Neurodegeneration with brain iron accumulation [RCV003324412] |
Chr19:29702871 [GRCh38] Chr19:30193778 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic |
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003581925]|Neurodegeneration with brain iron accumulation 4 [RCV003328134] |
Chr19:29702894 [GRCh38] Chr19:30193801 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.157G>C (p.Val53Leu) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003340747] |
Chr19:29708257 [GRCh38] Chr19:30199164 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.118T>G (p.Phe40Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV004786924]|Neurodegeneration with brain iron accumulation 4 [RCV003338016] |
Chr19:29708296 [GRCh38] Chr19:30199203 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.105_106del (p.Ala37fs) |
deletion |
Hereditary spastic paraplegia 43 [RCV005103966]|Neurodegeneration with brain iron accumulation 4 [RCV003335811]|Neurodegeneration with brain iron accumulation 4 [RCV005021915]|not provided [RCV004721179] |
Chr19:29708308..29708309 [GRCh38] Chr19:30199215..30199216 [GRCh37] Chr19:19q12 |
pathogenic|likely pathogenic|uncertain significance |
NC_000019.9:g.(?_30189943)_(30205968_?)del |
deletion |
not specified [RCV003479617] |
Chr19:30189943..30205968 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.207G>C (p.Gln69His) |
single nucleotide variant |
not provided [RCV003443685] |
Chr19:29702931 [GRCh38] Chr19:30193838 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.302G>A (p.Trp101Ter) |
single nucleotide variant |
Neurodegeneration with brain iron accumulation 4 [RCV004788570] |
Chr19:29702836 [GRCh38] Chr19:30193743 [GRCh37] Chr19:19q12 |
pathogenic |
NM_031448.6(C19orf12):c.10A>G (p.Met4Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003582834] |
Chr19:29708404 [GRCh38] Chr19:30199311 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.405C>T (p.Ala135=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003851299] |
Chr19:29702733 [GRCh38] Chr19:30193640 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003743339] |
Chr19:29702868 [GRCh38] Chr19:30193775 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.153C>T (p.Leu51=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003745624] |
Chr19:29708261 [GRCh38] Chr19:30199168 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.-11+199G>A |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003745057] |
Chr19:29714926 [GRCh38] Chr19:30205833 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.72T>C (p.Ala24=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003743215] |
Chr19:29708342 [GRCh38] Chr19:30199249 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-9G>A |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003582981] |
Chr19:29702986 [GRCh38] Chr19:30193893 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.174G>A (p.Gly58=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003743370] |
Chr19:29702964 [GRCh38] Chr19:30193871 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.120C>T (p.Phe40=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003743380] |
Chr19:29708294 [GRCh38] Chr19:30199201 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003581341] |
Chr19:29708413 [GRCh38] Chr19:30199320 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.102C>T (p.Val34=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003745275] |
Chr19:29708312 [GRCh38] Chr19:30199219 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.141C>A (p.Gly47=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003743106] |
Chr19:29708273 [GRCh38] Chr19:30199180 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.7A>G (p.Ile3Val) |
single nucleotide variant |
C19orf12-related disorder [RCV004731576]|Hereditary spastic paraplegia 43 [RCV003844395] |
Chr19:29708407 [GRCh38] Chr19:30199314 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.277G>T (p.Ala93Ser) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003822493] |
Chr19:29702861 [GRCh38] Chr19:30193768 [GRCh37] Chr19:19q12 |
uncertain significance |
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 |
copy number gain |
not specified [RCV003986115] |
Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2 |
pathogenic |
NM_031448.6(C19orf12):c.286A>G (p.Ile96Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV003841980] |
Chr19:29702852 [GRCh38] Chr19:30193759 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.6T>C (p.Thr2=) |
single nucleotide variant |
C19orf12-related disorder [RCV003901423] |
Chr19:29708408 [GRCh38] Chr19:30199315 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.61del (p.Lys20_Met21insTer) |
deletion |
not provided [RCV004593529] |
Chr19:29708353 [GRCh38] Chr19:30199260 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.394G>T (p.Glu132Ter) |
single nucleotide variant |
not provided [RCV004588784] |
Chr19:29702744 [GRCh38] Chr19:30193651 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.-10-335A>G |
single nucleotide variant |
not specified [RCV004598446] |
Chr19:29708758 [GRCh38] Chr19:30199665 [GRCh37] Chr19:19q12 |
benign |
NM_031448.6(C19orf12):c.242C>T (p.Pro81Leu) |
single nucleotide variant |
not provided [RCV004781297] |
Chr19:29702896 [GRCh38] Chr19:30193803 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.12G>A (p.Met4Ile) |
single nucleotide variant |
not provided [RCV004772199] |
Chr19:29708402 [GRCh38] Chr19:30199309 [GRCh37] Chr19:19q12 |
uncertain significance |
GRCh37/hg19 19q11-12(chr19:28271107-31269080)x3 |
copy number gain |
not provided [RCV004819644] |
Chr19:28271107..31269080 [GRCh37] Chr19:19q11-12 |
uncertain significance |
GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1 |
copy number loss |
not provided [RCV004819395] |
Chr19:28271107..38637350 [GRCh37] Chr19:19q11-13.13 |
pathogenic |
NM_031448.6(C19orf12):c.283A>G (p.Ile95Val) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005139803] |
Chr19:29702855 [GRCh38] Chr19:30193762 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.271G>A (p.Glu91Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005111077] |
Chr19:29702867 [GRCh38] Chr19:30193774 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.286A>T (p.Ile96Phe) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005138739] |
Chr19:29702852 [GRCh38] Chr19:30193759 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.349del (p.Leu117fs) |
deletion |
Hereditary spastic paraplegia 43 [RCV005120610] |
Chr19:29702789 [GRCh38] Chr19:30193696 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.325G>A (p.Ala109Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005081852] |
Chr19:29702813 [GRCh38] Chr19:30193720 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.33G>C (p.Leu11=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005181393] |
Chr19:29708381 [GRCh38] Chr19:30199288 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.174G>T (p.Gly58=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005163513] |
Chr19:29702964 [GRCh38] Chr19:30193871 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.177G>T (p.Gly59=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005143953] |
Chr19:29702961 [GRCh38] Chr19:30193868 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005188378] |
Chr19:29702828 [GRCh38] Chr19:30193735 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.270C>T (p.Asn90=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005114495] |
Chr19:29702868 [GRCh38] Chr19:30193775 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.161-2A>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005183616] |
Chr19:29702979 [GRCh38] Chr19:30193886 [GRCh37] Chr19:19q12 |
likely pathogenic |
NM_031448.6(C19orf12):c.161-1G>T |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005114505] |
Chr19:29702978 [GRCh38] Chr19:30193885 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.165G>C (p.Gly55=) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005184797] |
Chr19:29702973 [GRCh38] Chr19:30193880 [GRCh37] Chr19:19q12 |
likely benign |
NM_031448.6(C19orf12):c.260G>A (p.Arg87Lys) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005181607] |
Chr19:29702878 [GRCh38] Chr19:30193785 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.325dup (p.Ala109fs) |
duplication |
Hereditary spastic paraplegia 43 [RCV005203872] |
Chr19:29702812..29702813 [GRCh38] Chr19:30193719..30193720 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.250G>T (p.Glu84Ter) |
single nucleotide variant |
Hereditary spastic paraplegia 43 [RCV005125744] |
Chr19:29702888 [GRCh38] Chr19:30193795 [GRCh37] Chr19:19q12 |
uncertain significance |
NM_031448.6(C19orf12):c.36_40del (p.Cys13fs) |
deletion |
Hereditary spastic paraplegia 43 [RCV003340872] |
Chr19:29708374..29708378 [GRCh38] Chr19:30199281..30199285 [GRCh37] Chr19:19q12 |
likely pathogenic |