| NFU1, 545G-A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000023677] |
Chr2:2p15-p13 |
pathogenic |
| NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000023678]|NFU1-related disorder [RCV003415735]|not provided [RCV000385109] |
Chr2:69400462 [GRCh38]
Chr2:69627594 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NM_001002755.2(NFU1):c.619C>T (p.Gln207Ter) |
single nucleotide variant |
Malignant melanoma [RCV000065647] |
Chr2:69400465 [GRCh38]
Chr2:69627597 [GRCh37]
Chr2:69481101 [NCBI36]
Chr2:2p13.3 |
not provided |
| NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000364040]|not provided [RCV000676266]|not specified [RCV000127196] |
Chr2:69423598 [GRCh38]
Chr2:69423598..69423599 [GRCh38]
Chr2:69650730 [GRCh37]
Chr2:69650730..69650731 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.4(NFU1):c.411T>C (p.Ile137=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000543612]|NFU1-related disorder [RCV003965060]|not provided [RCV004708042]|not specified [RCV000127197] |
Chr2:69415258 [GRCh38]
Chr2:69642390 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000294034]|not provided [RCV000676267]|not specified [RCV000127198] |
Chr2:69431994 [GRCh38]
Chr2:69659126 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.-6A>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001143677]|not provided [RCV000676269]|not specified [RCV000127199] |
Chr2:69437428 [GRCh38]
Chr2:69664560 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.62+9C>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001085565]|not provided [RCV000676268]|not specified [RCV000127200] |
Chr2:69437352 [GRCh38]
Chr2:69664484 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.4(NFU1):c.62+80T>C |
single nucleotide variant |
not provided [RCV004708043]|not specified [RCV000127201] |
Chr2:69437281 [GRCh38]
Chr2:69664413 [GRCh37]
Chr2:2p13.3 |
benign |
| GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 |
copy number gain |
See cases [RCV000136053] |
Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2 |
pathogenic |
| GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2 |
uncertain significance |
| GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 |
copy number loss |
See cases [RCV000140691] |
Chr2:64587095..69876311 [GRCh38]
Chr2:64814229..70103443 [GRCh37]
Chr2:64667733..69956947 [NCBI36]
Chr2:2p14-13.3 |
likely pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000262464]|SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004701424]|not provided [RCV001549765] |
Chr2:69400455 [GRCh38]
Chr2:69627587 [GRCh37]
Chr2:2p13.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001002755.4(NFU1):c.303-2A>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002517248]|not provided [RCV000198803] |
Chr2:69419606 [GRCh38]
Chr2:69646738 [GRCh37]
Chr2:2p13.3 |
pathogenic|likely pathogenic |
| NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000649049]|not provided [RCV004708101]|not specified [RCV000196268] |
Chr2:69431917 [GRCh38]
Chr2:69659049 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.2(NFU1):c.-119G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000280831]|not provided [RCV001582983] |
Chr2:69437541 [GRCh38]
Chr2:69664673 [GRCh37]
Chr2:2p13.3 |
likely benign|uncertain significance |
| NM_001002755.4(NFU1):c.167-13T>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000269254]|not provided [RCV001566867] |
Chr2:69423730 [GRCh38]
Chr2:69650862 [GRCh37]
Chr2:2p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001002755.4(NFU1):c.62+10G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000915915] |
Chr2:69437351 [GRCh38]
Chr2:69664483 [GRCh37]
Chr2:2p13.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001002755.4(NFU1):c.702G>A (p.Glu234=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000357371] |
Chr2:69400382 [GRCh38]
Chr2:69627514 [GRCh37]
Chr2:2p13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001002755.2(NFU1):c.-66C>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000404073] |
Chr2:69437488 [GRCh38]
Chr2:69664620 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-175G>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000305063] |
Chr2:69437597 [GRCh38]
Chr2:69664729 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-150_-149GC[1] |
microsatellite |
Fatal multiple mitochondrial dysfunctions syndrome [RCV000340653] |
Chr2:69437568..69437569 [GRCh38]
Chr2:69664700..69664701 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000323454] |
Chr2:69423585 [GRCh38]
Chr2:69650717 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-166T>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000390550]|not provided [RCV001711954] |
Chr2:69437588 [GRCh38]
Chr2:69664720 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.4(NFU1):c.166+8T>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000907036] |
Chr2:69431894 [GRCh38]
Chr2:69659026 [GRCh37]
Chr2:2p13.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001002755.2(NFU1):c.-200G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000394683] |
Chr2:69437622 [GRCh38]
Chr2:69664754 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.*103G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000297843] |
Chr2:69396143 [GRCh38]
Chr2:69623275 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.303-13dup |
duplication |
Fatal multiple mitochondrial dysfunctions syndrome [RCV000268225]|Multiple mitochondrial dysfunctions syndrome 1 [RCV003640887] |
Chr2:69419616..69419617 [GRCh38]
Chr2:69646748..69646749 [GRCh37]
Chr2:2p13.3 |
benign|uncertain significance |
| NM_001002755.4(NFU1):c.-1G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000279512] |
Chr2:69437423 [GRCh38]
Chr2:69664555 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.548C>G (p.Pro183Arg) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004699426]|not provided [RCV001574903] |
Chr2:69400536 [GRCh38]
Chr2:69627668 [GRCh37]
Chr2:2p13.3 |
pathogenic|uncertain significance |
| NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000303644] |
Chr2:69406072 [GRCh38]
Chr2:69633204 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-48G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000334612] |
Chr2:69437470 [GRCh38]
Chr2:69664602 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-197T>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000359842] |
Chr2:69437619 [GRCh38]
Chr2:69664751 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.545+5G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000578252]|not provided [RCV002298691] |
Chr2:69406017 [GRCh38]
Chr2:69633149 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001139263] |
Chr2:69419575 [GRCh38]
Chr2:69646707 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.103C>T (p.Gln35Ter) |
single nucleotide variant |
not provided [RCV000591261] |
Chr2:69431965 [GRCh38]
Chr2:69659097 [GRCh37]
Chr2:2p13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001002755.4(NFU1):c.62+164G>A |
single nucleotide variant |
not provided [RCV001572027] |
Chr2:69437197 [GRCh38]
Chr2:69664329 [GRCh37]
Chr2:2p13.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001002755.4(NFU1):c.62+14C>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002062598]|not specified [RCV000438156] |
Chr2:69437347 [GRCh38]
Chr2:69664479 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.2(NFU1):c.-21C>T |
single nucleotide variant |
not specified [RCV000442763] |
Chr2:69437443 [GRCh38]
Chr2:69664575 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.420A>T (p.Thr140=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002062379]|not provided [RCV001720077] |
Chr2:69415249 [GRCh38]
Chr2:69642381 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.4(NFU1):c.48C>T (p.Ala16=) |
single nucleotide variant |
not specified [RCV000420066] |
Chr2:69437375 [GRCh38]
Chr2:69664507 [GRCh37]
Chr2:2p13.3 |
likely benign |
| GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 |
copy number gain |
See cases [RCV000448688] |
Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001002755.4(NFU1):c.721-9dup |
duplication |
not specified [RCV000486347] |
Chr2:69396298..69396299 [GRCh38]
Chr2:69623430..69623431 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001217924]|not provided [RCV000479200]|not specified [RCV003317233] |
Chr2:69400408 [GRCh38]
Chr2:69627540 [GRCh37]
Chr2:2p13.3 |
likely pathogenic|uncertain significance |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000578338]|not provided [RCV004767414] |
Chr2:69406023 [GRCh38]
Chr2:69633155 [GRCh37]
Chr2:2p13.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2p14-13.3(chr2:67491378-69679404) |
copy number loss |
not provided [RCV000767553] |
Chr2:67491378..69679404 [GRCh37]
Chr2:2p14-13.3 |
pathogenic |
| NM_001002755.4(NFU1):c.303-19A>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001451631]|not specified [RCV000613549] |
Chr2:69419623 [GRCh38]
Chr2:69646755 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.2(NFU1):c.-27G>C |
single nucleotide variant |
not specified [RCV000608528] |
Chr2:69437449 [GRCh38]
Chr2:69664581 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.545+9T>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000649048]|not provided [RCV000827394] |
Chr2:69406013 [GRCh38]
Chr2:69633145 [GRCh37]
Chr2:2p13.3 |
likely benign |
| Single allele |
duplication |
not provided [RCV000677942] |
Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001002755.4(NFU1):c.370-141A>G |
single nucleotide variant |
not provided [RCV001537424] |
Chr2:69415440 [GRCh38]
Chr2:69642572 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001706832]|SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004699444] |
Chr2:69400519 [GRCh38]
Chr2:69627651 [GRCh37]
Chr2:2p13.3 |
pathogenic|likely pathogenic |
| NM_001002755.4(NFU1):c.546-230T>C |
single nucleotide variant |
not provided [RCV001552047] |
Chr2:69400768 [GRCh38]
Chr2:69627900 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.485-205G>C |
single nucleotide variant |
not provided [RCV001568829] |
Chr2:69406287 [GRCh38]
Chr2:69633419 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.545+7G>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002544592] |
Chr2:69406015 [GRCh38]
Chr2:69633147 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NC_000002.12:g.69406013A>G |
single nucleotide variant |
not provided [RCV000827394] |
Chr2:69633145 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.302+269A>T |
single nucleotide variant |
not provided [RCV000832671] |
Chr2:69423313 [GRCh38]
Chr2:69650445 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.2(NFU1):c.-422G>A |
single nucleotide variant |
not provided [RCV000828596] |
Chr2:69437844 [GRCh38]
Chr2:69664976 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.2(NFU1):c.-458G>C |
single nucleotide variant |
not provided [RCV000843359] |
Chr2:69437880 [GRCh38]
Chr2:69665012 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.369+166C>T |
single nucleotide variant |
not provided [RCV000843361] |
Chr2:69419372 [GRCh38]
Chr2:69646504 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.370-184C>T |
single nucleotide variant |
not provided [RCV000843362] |
Chr2:69415483 [GRCh38]
Chr2:69642615 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.485-168T>A |
single nucleotide variant |
not provided [RCV000843363] |
Chr2:69406250 [GRCh38]
Chr2:69633382 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.545+11C>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003525964]|not provided [RCV000827395] |
Chr2:69406011 [GRCh38]
Chr2:69633143 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.303-277T>G |
single nucleotide variant |
not provided [RCV000830679] |
Chr2:69419881 [GRCh38]
Chr2:69647013 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.303-214G>A |
single nucleotide variant |
not provided [RCV000828599] |
Chr2:69419818 [GRCh38]
Chr2:69646950 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.2(NFU1):c.-367T>A |
single nucleotide variant |
not provided [RCV000832167] |
Chr2:69437789 [GRCh38]
Chr2:69664921 [GRCh37]
Chr2:2p13.3 |
benign |
| NC_000002.11:g.(?_69627476)_(69627690_?)dup |
duplication |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000802581] |
Chr2:69400344..69400558 [GRCh38]
Chr2:69627476..69627690 [GRCh37]
Chr2:2p13.3 |
likely pathogenic |
| NM_001002755.4(NFU1):c.63-265A>T |
single nucleotide variant |
not provided [RCV000828597] |
Chr2:69432270 [GRCh38]
Chr2:69659402 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.302+187G>A |
single nucleotide variant |
not provided [RCV000828598] |
Chr2:69423395 [GRCh38]
Chr2:69650527 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.546-249C>T |
single nucleotide variant |
not provided [RCV000830755] |
Chr2:69400787 [GRCh38]
Chr2:69627919 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.546-16T>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002067428]|not provided [RCV000826304] |
Chr2:69400554 [GRCh38]
Chr2:69627686 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.484+181C>A |
single nucleotide variant |
not provided [RCV000832491] |
Chr2:69415004 [GRCh38]
Chr2:69642136 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.484+191C>T |
single nucleotide variant |
not provided [RCV000832492] |
Chr2:69414994 [GRCh38]
Chr2:69642126 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.303-4G>T |
single nucleotide variant |
not provided [RCV000892032] |
Chr2:69419608 [GRCh38]
Chr2:69646740 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.485-1G>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV000991363] |
Chr2:69406083 [GRCh38]
Chr2:69633215 [GRCh37]
Chr2:2p13.3 |
likely pathogenic |
| NM_001002755.2(NFU1):c.-179C>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001137128] |
Chr2:69437601 [GRCh38]
Chr2:69664733 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.546-52A>G |
single nucleotide variant |
not provided [RCV001544726] |
Chr2:69400590 [GRCh38]
Chr2:69627722 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.398T>C (p.Leu133Pro) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004699432]|not provided [RCV001583870] |
Chr2:69415271 [GRCh38]
Chr2:69642403 [GRCh37]
Chr2:2p13.3 |
pathogenic|uncertain significance |
| NM_001002755.4(NFU1):c.485-274C>G |
single nucleotide variant |
not provided [RCV001568936] |
Chr2:69406356 [GRCh38]
Chr2:69633488 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.302+308C>T |
single nucleotide variant |
not provided [RCV001561183] |
Chr2:69423274 [GRCh38]
Chr2:69650406 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.546-226C>T |
single nucleotide variant |
not provided [RCV001556508] |
Chr2:69400764 [GRCh38]
Chr2:69627896 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.63-124A>G |
single nucleotide variant |
not provided [RCV001577382] |
Chr2:69432129 [GRCh38]
Chr2:69659261 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.369+129C>T |
single nucleotide variant |
not provided [RCV001718273] |
Chr2:69419409 [GRCh38]
Chr2:69646541 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.167-261C>G |
single nucleotide variant |
not provided [RCV001549407] |
Chr2:69423978 [GRCh38]
Chr2:69651110 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001141884] |
Chr2:69431984 [GRCh38]
Chr2:69659116 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.166+217del |
deletion |
not provided [RCV001562161] |
Chr2:69431685 [GRCh38]
Chr2:69658817 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV004701945] |
Chr2:69437361 [GRCh38]
Chr2:69664493 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NM_001002755.4(NFU1):c.362T>C (p.Val121Ala) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004701942] |
Chr2:69419545 [GRCh38]
Chr2:69646677 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NM_001002755.4(NFU1):c.370-94dup |
duplication |
not provided [RCV001636440] |
Chr2:69415381..69415382 [GRCh38]
Chr2:69642513..69642514 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.167-128C>T |
single nucleotide variant |
not provided [RCV001677098] |
Chr2:69423845 [GRCh38]
Chr2:69650977 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.302+150dup |
duplication |
not provided [RCV001621144] |
Chr2:69423422..69423423 [GRCh38]
Chr2:69650554..69650555 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.302+293AC[14] |
microsatellite |
not provided [RCV001656402] |
Chr2:69423244..69423261 [GRCh38]
Chr2:69650376..69650393 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.546-179dup |
duplication |
not provided [RCV001617327] |
Chr2:69400705..69400706 [GRCh38]
Chr2:69627837..69627838 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.302+293AC[17] |
microsatellite |
not provided [RCV001677471] |
Chr2:69423244..69423255 [GRCh38]
Chr2:69650376..69650387 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.485-296T>C |
single nucleotide variant |
not provided [RCV001574988] |
Chr2:69406378 [GRCh38]
Chr2:69633510 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001706833] |
Chr2:69406022 [GRCh38]
Chr2:69633154 [GRCh37]
Chr2:2p13.3 |
likely pathogenic|uncertain significance |
| NM_001002755.4(NFU1):c.370-94_370-93dup |
duplication |
not provided [RCV001584586] |
Chr2:69415381..69415382 [GRCh38]
Chr2:69642513..69642514 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.302+293AC[15] |
microsatellite |
not provided [RCV001641819] |
Chr2:69423244..69423259 [GRCh38]
Chr2:69650376..69650391 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.484+126C>T |
single nucleotide variant |
not provided [RCV001651628] |
Chr2:69415059 [GRCh38]
Chr2:69642191 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.699G>A (p.Pro233=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002539560]|not provided [RCV001609526] |
Chr2:69400385 [GRCh38]
Chr2:69627517 [GRCh37]
Chr2:2p13.3 |
benign|likely benign |
| NM_001002755.4(NFU1):c.12G>A (p.Thr4=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001141885] |
Chr2:69437411 [GRCh38]
Chr2:69664543 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.-7G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001143678] |
Chr2:69437429 [GRCh38]
Chr2:69664561 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-41C>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001143679] |
Chr2:69437463 [GRCh38]
Chr2:69664595 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001216752] |
Chr2:69431923 [GRCh38]
Chr2:69659055 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.2(NFU1):c.-134A>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001143680] |
Chr2:69437556 [GRCh38]
Chr2:69664688 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.528G>A (p.Leu176=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002072022]|not provided [RCV001548596] |
Chr2:69406039 [GRCh38]
Chr2:69633171 [GRCh37]
Chr2:2p13.3 |
likely benign |
| GRCh37/hg19 2p13.3(chr2:69574320-69795504)x1 |
copy number loss |
not provided [RCV001260152] |
Chr2:69574320..69795504 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| GRCh37/hg19 2p13.3(chr2:69506803-70159981)x1 |
copy number loss |
not provided [RCV001260153] |
Chr2:69506803..70159981 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.545+297del |
deletion |
not provided [RCV001581315] |
Chr2:69405725 [GRCh38]
Chr2:69632857 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001362075] |
Chr2:69415296 [GRCh38]
Chr2:69642428 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001333595]|NFU1-related disorder [RCV004756211] |
Chr2:69406022 [GRCh38]
Chr2:69633154 [GRCh37]
Chr2:2p13.3 |
pathogenic|likely pathogenic |
| NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001327683] |
Chr2:69400386 [GRCh38]
Chr2:69627518 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.300T>C (p.Ala100=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001401161] |
Chr2:69423584 [GRCh38]
Chr2:69650716 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.3(NFU1):c.*242T>C |
single nucleotide variant |
not provided [RCV001614965] |
Chr2:69396004 [GRCh38]
Chr2:69623136 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.298G>C (p.Ala100Pro) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004699451]|not provided [RCV001757857] |
Chr2:69423586 [GRCh38]
Chr2:69650718 [GRCh37]
Chr2:2p13.3 |
pathogenic|uncertain significance |
| NM_001002755.4(NFU1):c.548del (p.Pro183fs) |
deletion |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001782528] |
Chr2:69400536 [GRCh38]
Chr2:69627668 [GRCh37]
Chr2:2p13.3 |
likely pathogenic |
| NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004699452]|not provided [RCV001757858] |
Chr2:69423583 [GRCh38]
Chr2:69650715 [GRCh37]
Chr2:2p13.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003264113]|Multiple mitochondrial dysfunctions syndrome 1 [RCV002545214]|not provided [RCV001837635] |
Chr2:69437406 [GRCh38]
Chr2:69664538 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.154T>G (p.Phe52Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002548173]|Multiple mitochondrial dysfunctions syndrome 1 [RCV002043189] |
Chr2:69431914 [GRCh38]
Chr2:69659046 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002027205] |
Chr2:69400448 [GRCh38]
Chr2:69627580 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001925949] |
Chr2:69415298 [GRCh38]
Chr2:69642430 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.369+4A>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001982451] |
Chr2:69419534 [GRCh38]
Chr2:69646666 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.546-16T>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001958348] |
Chr2:69400554 [GRCh38]
Chr2:69627686 [GRCh37]
Chr2:2p13.3 |
likely benign|uncertain significance |
| NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002556329]|Multiple mitochondrial dysfunctions syndrome 1 [RCV001919067] |
Chr2:69437403 [GRCh38]
Chr2:69664535 [GRCh37]
Chr2:2p13.3 |
likely benign|uncertain significance |
| NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002031105] |
Chr2:69437415 [GRCh38]
Chr2:69664547 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.545+4C>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002016555] |
Chr2:69406018 [GRCh38]
Chr2:69633150 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.720+4T>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV001920379] |
Chr2:69400360 [GRCh38]
Chr2:69627492 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.485-8_485-5del |
deletion |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002107861] |
Chr2:69406087..69406090 [GRCh38]
Chr2:69633219..69633222 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.62+14C>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002167073] |
Chr2:69437347 [GRCh38]
Chr2:69664479 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.721-8G>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002094826] |
Chr2:69396298 [GRCh38]
Chr2:69623430 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.370-4A>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002195711] |
Chr2:69415303 [GRCh38]
Chr2:69642435 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.69T>C (p.Cys23=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002218983] |
Chr2:69431999 [GRCh38]
Chr2:69659131 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.370-4A>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002178353] |
Chr2:69415303 [GRCh38]
Chr2:69642435 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NC_000002.11:g.(?_69240632)_(74779761_?)dup |
duplication |
not provided [RCV003122858] |
Chr2:69240632..74779761 [GRCh37]
Chr2:2p13.3-13.1 |
uncertain significance |
| NM_001002755.4(NFU1):c.287G>A (p.Arg96His) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003120870]|not provided [RCV002273401] |
Chr2:69423597 [GRCh38]
Chr2:69650729 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003096304]|not provided [RCV002279078] |
Chr2:69406070 [GRCh38]
Chr2:69633202 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002303463] |
Chr2:69423594 [GRCh38]
Chr2:69650726 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.302+3A>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003101709]|not provided [RCV002300923] |
Chr2:69423579 [GRCh38]
Chr2:69650711 [GRCh37]
Chr2:2p13.3 |
pathogenic|uncertain significance |
| NM_001002755.4(NFU1):c.370-7T>C |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003073901] |
Chr2:69415306 [GRCh38]
Chr2:69642438 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.240T>A (p.Val80=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002755458] |
Chr2:69423644 [GRCh38]
Chr2:69650776 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002819515] |
Chr2:69431982 [GRCh38]
Chr2:69659114 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.546G>A (p.Arg182=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002755248] |
Chr2:69400538 [GRCh38]
Chr2:69627670 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.166+3A>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002816692] |
Chr2:69431899 [GRCh38]
Chr2:69659031 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.202A>C (p.Asn68His) |
single nucleotide variant |
Inborn genetic diseases [RCV002732053] |
Chr2:69423682 [GRCh38]
Chr2:69650814 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.39T>G (p.Ala13=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003039439] |
Chr2:69437384 [GRCh38]
Chr2:69664516 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.19C>A (p.Arg7=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002889280] |
Chr2:69437404 [GRCh38]
Chr2:69664536 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.63-4G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003053567] |
Chr2:69432009 [GRCh38]
Chr2:69659141 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.302+15dup |
duplication |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003100253] |
Chr2:69423566..69423567 [GRCh38]
Chr2:69650698..69650699 [GRCh37]
Chr2:2p13.3 |
benign |
| NM_001002755.4(NFU1):c.485-20T>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002958331] |
Chr2:69406102 [GRCh38]
Chr2:69633234 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.430T>G (p.Phe144Val) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002805625] |
Chr2:69415239 [GRCh38]
Chr2:69642371 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002597168] |
Chr2:69419548 [GRCh38]
Chr2:69646680 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.309A>C (p.Leu103Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002915411] |
Chr2:69419598 [GRCh38]
Chr2:69646730 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.303-19A>T |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003005831] |
Chr2:69419623 [GRCh38]
Chr2:69646755 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.324A>C (p.Gly108=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003082626] |
Chr2:69419583 [GRCh38]
Chr2:69646715 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003089660] |
Chr2:69423601 [GRCh38]
Chr2:69650733 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.62+12G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002650265] |
Chr2:69437349 [GRCh38]
Chr2:69664481 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.303-4G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003048542] |
Chr2:69419608 [GRCh38]
Chr2:69646740 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.526T>C (p.Leu176=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002630023] |
Chr2:69406041 [GRCh38]
Chr2:69633173 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002646334] |
Chr2:69400387 [GRCh38]
Chr2:69627519 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.49G>A (p.Gly17Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002769863] |
Chr2:69437374 [GRCh38]
Chr2:69664506 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.303-18T>G |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003061281] |
Chr2:69419622 [GRCh38]
Chr2:69646754 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002583653] |
Chr2:69396278 [GRCh38]
Chr2:69623410 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del) |
microsatellite |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003049705] |
Chr2:69406064..69406066 [GRCh38]
Chr2:69633196..69633198 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002610358] |
Chr2:69437419 [GRCh38]
Chr2:69664551 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002611435] |
Chr2:69431961 [GRCh38]
Chr2:69659093 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV002611598] |
Chr2:69423685 [GRCh38]
Chr2:69650817 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.206C>G (p.Pro69Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003280607] |
Chr2:69423678 [GRCh38]
Chr2:69650810 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.721-1G>A |
single nucleotide variant |
not specified [RCV003226689] |
Chr2:69396291 [GRCh38]
Chr2:69623423 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1 |
copy number loss |
not provided [RCV003223077] |
Chr2:65296579..71305638 [GRCh37]
Chr2:2p14-13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.370-8G>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003527161] |
Chr2:69415307 [GRCh38]
Chr2:69642439 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003526245] |
Chr2:69432000 [GRCh38]
Chr2:69659132 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.313A>C (p.Arg105=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003877480]|NFU1-related disorder [RCV003893572] |
Chr2:69419594 [GRCh38]
Chr2:69646726 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003640484] |
Chr2:69406068 [GRCh38]
Chr2:69633200 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003870979] |
Chr2:69400503 [GRCh38]
Chr2:69627635 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.708A>G (p.Glu236=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003640728] |
Chr2:69400376 [GRCh38]
Chr2:69627508 [GRCh37]
Chr2:2p13.3 |
likely benign |
| GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1 |
copy number loss |
not specified [RCV003986387] |
Chr2:67702012..70506257 [GRCh37]
Chr2:2p14-13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.207A>G (p.Pro69=) |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003640474] |
Chr2:69423677 [GRCh38]
Chr2:69650809 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.484+7T>A |
single nucleotide variant |
Multiple mitochondrial dysfunctions syndrome 1 [RCV003642120] |
Chr2:69415178 [GRCh38]
Chr2:69642310 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.166+10C>T |
single nucleotide variant |
NFU1-related disorder [RCV003901600] |
Chr2:69431892 [GRCh38]
Chr2:69659024 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.312T>C (p.Phe104=) |
single nucleotide variant |
NFU1-related disorder [RCV003947019] |
Chr2:69419595 [GRCh38]
Chr2:69646727 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.546-5C>T |
single nucleotide variant |
NFU1-related disorder [RCV003969771] |
Chr2:69400543 [GRCh38]
Chr2:69627675 [GRCh37]
Chr2:2p13.3 |
likely benign |
| NM_001002755.4(NFU1):c.32C>G (p.Ala11Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004494919] |
Chr2:69437391 [GRCh38]
Chr2:69664523 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.105G>C (p.Gln35His) |
single nucleotide variant |
Inborn genetic diseases [RCV004494901] |
Chr2:69431963 [GRCh38]
Chr2:69659095 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.59G>A (p.Arg20Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004494925] |
Chr2:69437364 [GRCh38]
Chr2:69664496 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.49G>C (p.Gly17Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004643627] |
Chr2:69437374 [GRCh38]
Chr2:69664506 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.134T>A (p.Leu45His) |
single nucleotide variant |
Inborn genetic diseases [RCV004643628] |
Chr2:69431934 [GRCh38]
Chr2:69659066 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.727G>A (p.Asp243Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004654971] |
Chr2:69396284 [GRCh38]
Chr2:69623416 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.721G>C (p.Val241Leu) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004701941] |
Chr2:69396290 [GRCh38]
Chr2:69623422 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NM_001002755.4(NFU1):c.295C>G (p.Leu99Val) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004701943] |
Chr2:69423589 [GRCh38]
Chr2:69650721 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NM_001002755.4(NFU1):c.62+89G>A |
single nucleotide variant |
NFU1-related disorder [RCV004756972] |
Chr2:69437272 [GRCh38]
Chr2:69664404 [GRCh37]
Chr2:2p13.3 |
uncertain significance |
| NM_001002755.4(NFU1):c.263T>C (p.Phe88Ser) |
single nucleotide variant |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004701944] |
Chr2:69423621 [GRCh38]
Chr2:69650753 [GRCh37]
Chr2:2p13.3 |
pathogenic |
| NFU1, 1-BP DEL, 146C |
deletion |
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE [RCV004701940] |
|
pathogenic |
| NFU1, 55.6-KB DEL, EX4-8DEL |
deletion |
Multiple mitochondrial dysfunctions syndrome 1 [RCV004701946] |
|
pathogenic |
