| NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000000826] |
Chr6:96896790 [GRCh38]
Chr6:97344666 [GRCh37]
Chr6:6q16.1 |
pathogenic |
| NM_014165.4(NDUFAF4):c.*137A>C |
single nucleotide variant |
not provided [RCV001544882] |
Chr6:96890967 [GRCh38]
Chr6:97338843 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV001778735]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000328919]|not provided [RCV000676774]|not specified [RCV000117706] |
Chr6:96891212 [GRCh38]
Chr6:97339088 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV001778736]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000271558]|not provided [RCV000676773]|not specified [RCV000117707] |
Chr6:96891202 [GRCh38]
Chr6:97339078 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164696]|not provided [RCV000892181]|not specified [RCV000127124] |
Chr6:96897691 [GRCh38]
Chr6:97345567 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.280A>C (p.Arg94=) |
single nucleotide variant |
not provided [RCV002055700]|not specified [RCV000127125] |
Chr6:96891352 [GRCh38]
Chr6:97339228 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV001803001]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001164695]|not provided [RCV000756413]|not specified [RCV000127126] |
Chr6:96897682 [GRCh38]
Chr6:97345558 [GRCh37]
Chr6:6q16.1 |
benign|uncertain significance |
| GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 |
copy number loss |
See cases [RCV000135773] |
Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1 |
pathogenic |
| GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1 |
pathogenic |
| GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 |
copy number loss |
See cases [RCV000139465] |
Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31 |
pathogenic |
| NM_014165.4(NDUFAF4):c.*1443G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000262685] |
Chr6:96889661 [GRCh38]
Chr6:97337537 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.238C>A (p.Gln80Lys) |
single nucleotide variant |
not specified [RCV000200316] |
Chr6:96896746 [GRCh38]
Chr6:97344622 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.20_21delinsTT (p.Arg7Leu) |
indel |
not specified [RCV000197419] |
Chr6:96897781..96897782 [GRCh38]
Chr6:97345657..97345658 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.70A>G (p.Lys24Glu) |
single nucleotide variant |
not provided [RCV000198576] |
Chr6:96897732 [GRCh38]
Chr6:97345608 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1487A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000268561] |
Chr6:96889617 [GRCh38]
Chr6:97337493 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1062T>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000345543] |
Chr6:96890042 [GRCh38]
Chr6:97337918 [GRCh37]
Chr6:6q16.1 |
likely benign|uncertain significance |
| NM_014165.4(NDUFAF4):c.*690G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000396406] |
Chr6:96890414 [GRCh38]
Chr6:97338290 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*387C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000396414] |
Chr6:96890717 [GRCh38]
Chr6:97338593 [GRCh37]
Chr6:6q16.1 |
likely benign|uncertain significance |
| NM_014165.4(NDUFAF4):c.*1447T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000354926] |
Chr6:96889657 [GRCh38]
Chr6:97337533 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1671T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000303762] |
Chr6:96889433 [GRCh38]
Chr6:97337309 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000323220]|not provided [RCV000879095] |
Chr6:96896800 [GRCh38]
Chr6:97344676 [GRCh37]
Chr6:6q16.1 |
benign|uncertain significance |
| NM_014165.4(NDUFAF4):c.*289C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000325406] |
Chr6:96890815 [GRCh38]
Chr6:97338691 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*332A>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000273464] |
Chr6:96890772 [GRCh38]
Chr6:97338648 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.*1362C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000275165] |
Chr6:96889742 [GRCh38]
Chr6:97337618 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1203A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000332635] |
Chr6:96889901 [GRCh38]
Chr6:97337777 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*350A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000356500] |
Chr6:96890754 [GRCh38]
Chr6:97338630 [GRCh37]
Chr6:6q16.1 |
likely benign|uncertain significance |
| NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000382393]|not specified [RCV000423154] |
Chr6:96891141 [GRCh38]
Chr6:97339017 [GRCh37]
Chr6:6q16.1 |
likely benign|uncertain significance |
| NM_014165.4(NDUFAF4):c.-40C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000404642] |
Chr6:96897841 [GRCh38]
Chr6:97345717 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*459A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000334469] |
Chr6:96890645 [GRCh38]
Chr6:97338521 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1053A>G |
single nucleotide variant |
Mitochondrial complex I deficiency [RCV000383714] |
Chr6:96890051 [GRCh38]
Chr6:97337927 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*294T>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000277352] |
Chr6:96890810 [GRCh38]
Chr6:97338686 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1642T>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000360842] |
Chr6:96889462 [GRCh38]
Chr6:97337338 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1363G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000386306] |
Chr6:96889741 [GRCh38]
Chr6:97337617 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*301T>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000369579]|not provided [RCV001537432] |
Chr6:96890803 [GRCh38]
Chr6:97338679 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.*986A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000339758] |
Chr6:96890118 [GRCh38]
Chr6:97337994 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*323A>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000312171] |
Chr6:96890781 [GRCh38]
Chr6:97338657 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.*382T>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000299285] |
Chr6:96890722 [GRCh38]
Chr6:97338598 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.*1481T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000297975] |
Chr6:96889623 [GRCh38]
Chr6:97337499 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-49C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000282372] |
Chr6:96897850 [GRCh38]
Chr6:97345726 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1375G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000320120] |
Chr6:96889729 [GRCh38]
Chr6:97337605 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.241-18dup |
duplication |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV001778943]|Mitochondrial complex I deficiency [RCV000376533]|not provided [RCV000676776] |
Chr6:96891399..96891400 [GRCh38]
Chr6:97339275..97339276 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.-32del |
deletion |
Mitochondrial complex I deficiency [RCV000278744] |
Chr6:96897833 [GRCh38]
Chr6:97345709 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 |
copy number loss |
See cases [RCV002292710] |
Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-24C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000380202] |
Chr6:96897825 [GRCh38]
Chr6:97345701 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1008T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000291794] |
Chr6:96890096 [GRCh38]
Chr6:97337972 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1748T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000347095] |
Chr6:96889356 [GRCh38]
Chr6:97337232 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*612A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000305325] |
Chr6:96890492 [GRCh38]
Chr6:97338368 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000284369] |
Chr6:96896761 [GRCh38]
Chr6:97344637 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-33G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000336098] |
Chr6:96897834 [GRCh38]
Chr6:97345710 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1154A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000389364] |
Chr6:96889950 [GRCh38]
Chr6:97337826 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1121A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000288104] |
Chr6:96889983 [GRCh38]
Chr6:97337859 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1727T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV000397295] |
Chr6:96889377 [GRCh38]
Chr6:97337253 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV000754577]|not provided [RCV000591072] |
Chr6:96897795 [GRCh38]
Chr6:97345671 [GRCh37]
Chr6:6q16.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001323258.2(KLHL32):c.-2183CT[3] |
microsatellite |
not provided [RCV001572259] |
Chr6:96898115..96898116 [GRCh38]
Chr6:97345991..97345992 [GRCh37]
Chr6:6q16.1 |
likely benign |
| GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)x1 |
copy number loss |
See cases [RCV000446720] |
Chr6:92576950..104658245 [GRCh37]
Chr6:6q15-16.3 |
pathogenic |
| NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV000999808]|not provided [RCV000419279] |
Chr6:96897762 [GRCh38]
Chr6:97345638 [GRCh37]
Chr6:6q16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 |
copy number loss |
See cases [RCV000445666] |
Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31 |
pathogenic |
| NM_014165.4(NDUFAF4):c.-25C>T |
single nucleotide variant |
not specified [RCV000429876] |
Chr6:96897826 [GRCh38]
Chr6:97345702 [GRCh37]
Chr6:6q16.1 |
likely benign |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV002279722]|not provided [RCV000498810] |
Chr6:96897801 [GRCh38]
Chr6:97345677 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_014165.3(NDUFAF4):c.241-10_241-9dup |
duplication |
not provided [RCV000676775] |
Chr6:96891399..96891400 [GRCh38]
Chr6:97339275..97339276 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164693]|not specified [RCV000612845] |
Chr6:96891362 [GRCh38]
Chr6:97339238 [GRCh37]
Chr6:6q16.1 |
likely benign|uncertain significance |
| GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 |
copy number loss |
See cases [RCV000512470] |
Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21 |
pathogenic |
| GRCh37/hg19 6q16.1(chr6:96930503-97358358)x3 |
copy number gain |
not provided [RCV000682697] |
Chr6:96930503..97358358 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 |
copy number gain |
not provided [RCV000682688] |
Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1 |
pathogenic |
| GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 |
copy number loss |
not provided [RCV000682693] |
Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_014165.4(NDUFAF4):c.350T>G (p.Val117Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003268491] |
Chr6:96891282 [GRCh38]
Chr6:97339158 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NC_000006.12:g.96897897dup |
duplication |
not provided [RCV001546725] |
Chr6:96897893..96897894 [GRCh38]
Chr6:97345769..97345770 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.241-8G>T |
single nucleotide variant |
not provided [RCV000882725] |
Chr6:96891399 [GRCh38]
Chr6:97339275 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.136+149C>T |
single nucleotide variant |
not provided [RCV000834906] |
Chr6:96897517 [GRCh38]
Chr6:97345393 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.137-331C>G |
single nucleotide variant |
not provided [RCV000837448] |
Chr6:96897178 [GRCh38]
Chr6:97345054 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_001323258.2(KLHL32):c.-2186A>G |
single nucleotide variant |
not provided [RCV000841113] |
Chr6:96898113 [GRCh38]
Chr6:97345989 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.*1213C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164581] |
Chr6:96889891 [GRCh38]
Chr6:97337767 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-11G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164698] |
Chr6:96897812 [GRCh38]
Chr6:97345688 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.136+309C>T |
single nucleotide variant |
not provided [RCV000841085] |
Chr6:96897357 [GRCh38]
Chr6:97345233 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.*1214G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164580] |
Chr6:96889890 [GRCh38]
Chr6:97337766 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.*1368A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001162539] |
Chr6:96889736 [GRCh38]
Chr6:97337612 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q16.1(chr6:96925561-97358357)x3 |
copy number gain |
not provided [RCV000846189] |
Chr6:96925561..97358357 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164697] |
Chr6:96897742 [GRCh38]
Chr6:97345618 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*305C>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001161063] |
Chr6:96890799 [GRCh38]
Chr6:97338675 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*289C>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001161064] |
Chr6:96890815 [GRCh38]
Chr6:97338691 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NC_000006.12:g.96898025A>G |
single nucleotide variant |
not provided [RCV001715674] |
Chr6:96898025 [GRCh38]
Chr6:97345901 [GRCh37]
Chr6:6q16.1 |
benign |
| NC_000006.12:g.96897902C>G |
single nucleotide variant |
not provided [RCV001716411] |
Chr6:96897902 [GRCh38]
Chr6:97345778 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg) |
single nucleotide variant |
not provided [RCV001665298] |
Chr6:96896787 [GRCh38]
Chr6:97344663 [GRCh37]
Chr6:6q16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_014165.4(NDUFAF4):c.*639A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001159666] |
Chr6:96890465 [GRCh38]
Chr6:97338341 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001164694] |
Chr6:96896795 [GRCh38]
Chr6:97344671 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1 |
copy number loss |
not provided [RCV002472644] |
Chr6:96596732..105554568 [GRCh37]
Chr6:6q16.1-21 |
pathogenic |
| NM_014165.4(NDUFAF4):c.137-37C>T |
single nucleotide variant |
not provided [RCV001591513] |
Chr6:96896884 [GRCh38]
Chr6:97344760 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.*14A>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001162633] |
Chr6:96891090 [GRCh38]
Chr6:97338966 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1247A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001162542] |
Chr6:96889857 [GRCh38]
Chr6:97337733 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*782T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001159665] |
Chr6:96890322 [GRCh38]
Chr6:97338198 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-20G>T |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001159770] |
Chr6:96897821 [GRCh38]
Chr6:97345697 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-65C>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001159771] |
Chr6:96897866 [GRCh38]
Chr6:97345742 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*482A>G |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001159667] |
Chr6:96890622 [GRCh38]
Chr6:97338498 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1728G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001160932] |
Chr6:96889376 [GRCh38]
Chr6:97337252 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.-59dup |
duplication |
not provided [RCV001588457] |
Chr6:96897859..96897860 [GRCh38]
Chr6:97345735..97345736 [GRCh37]
Chr6:6q16.1 |
benign|likely benign |
| NM_014165.4(NDUFAF4):c.*1299G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001162541] |
Chr6:96889805 [GRCh38]
Chr6:97337681 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.*119T>C |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001162632] |
Chr6:96890985 [GRCh38]
Chr6:97338861 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.*1334G>A |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001162540] |
Chr6:96889770 [GRCh38]
Chr6:97337646 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) |
single nucleotide variant |
Mitochondrial complex I deficiency, nuclear type 1 [RCV001333727] |
Chr6:96891364 [GRCh38]
Chr6:97339240 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.64A>G (p.Ile22Val) |
single nucleotide variant |
not provided [RCV001309809] |
Chr6:96897738 [GRCh38]
Chr6:97345614 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.83C>G (p.Ser28Cys) |
single nucleotide variant |
Mitochondrial complex 1 deficiency, nuclear type 15 [RCV001330487] |
Chr6:96897719 [GRCh38]
Chr6:97345595 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.137-397T>A |
single nucleotide variant |
not provided [RCV002259452] |
Chr6:96897244 [GRCh38]
Chr6:97345120 [GRCh37]
Chr6:6q16.1 |
likely benign |
| GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) |
copy number loss |
not specified [RCV002053595] |
Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31 |
pathogenic |
| GRCh37/hg19 6q16.1(chr6:97115084-97372081)x1 |
copy number loss |
not provided [RCV001832929] |
Chr6:97115084..97372081 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) |
copy number loss |
not specified [RCV002053598] |
Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2 |
pathogenic |
| GRCh37/hg19 6q16.1(chr6:96930503-97358358) |
copy number gain |
not specified [RCV002053600] |
Chr6:96930503..97358358 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q15-16.3(chr6:92576950-104658245) |
copy number loss |
not specified [RCV002053599] |
Chr6:92576950..104658245 [GRCh37]
Chr6:6q15-16.3 |
pathogenic |
| NM_014165.4(NDUFAF4):c.476T>C (p.Phe159Ser) |
single nucleotide variant |
not provided [RCV002020068] |
Chr6:96891156 [GRCh38]
Chr6:97339032 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.59G>A (p.Arg20Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002564417]|not provided [RCV001953977] |
Chr6:96897743 [GRCh38]
Chr6:97345619 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NC_000006.11:g.(?_97338980)_(97345677_?)del |
deletion |
not provided [RCV001902484] |
Chr6:97338980..97345677 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.88G>T (p.Ala30Ser) |
single nucleotide variant |
not provided [RCV002016462] |
Chr6:96897714 [GRCh38]
Chr6:97345590 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NC_000006.11:g.(?_97338980)_(97339287_?)del |
deletion |
not provided [RCV001922932] |
Chr6:97338980..97339287 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.137-10C>T |
single nucleotide variant |
NDUFAF4-related condition [RCV003978567]|not provided [RCV002205177] |
Chr6:96896857 [GRCh38]
Chr6:97344733 [GRCh37]
Chr6:6q16.1 |
likely benign |
| GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1 |
copy number loss |
not provided [RCV002472620] |
Chr6:96946110..106497526 [GRCh37]
Chr6:6q16.1-21 |
pathogenic |
| NM_014165.4(NDUFAF4):c.62A>T (p.Glu21Val) |
single nucleotide variant |
not provided [RCV002615756] |
Chr6:96897740 [GRCh38]
Chr6:97345616 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.286C>A (p.Pro96Thr) |
single nucleotide variant |
not provided [RCV003011866] |
Chr6:96891346 [GRCh38]
Chr6:97339222 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.136+20T>C |
single nucleotide variant |
not provided [RCV002775944] |
Chr6:96897646 [GRCh38]
Chr6:97345522 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.344C>G (p.Ser115Cys) |
single nucleotide variant |
not provided [RCV003034553] |
Chr6:96891288 [GRCh38]
Chr6:97339164 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.241-9del |
deletion |
not provided [RCV002882211] |
Chr6:96891400 [GRCh38]
Chr6:97339276 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.12A>G (p.Leu4=) |
single nucleotide variant |
not provided [RCV002730292] |
Chr6:96897790 [GRCh38]
Chr6:97345666 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.74T>C (p.Met25Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002859583] |
Chr6:96897728 [GRCh38]
Chr6:97345604 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.240G>C (p.Gln80His) |
single nucleotide variant |
not provided [RCV002695387] |
Chr6:96896744 [GRCh38]
Chr6:97344620 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.269C>T (p.Pro90Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002620029]|not provided [RCV002620028] |
Chr6:96891363 [GRCh38]
Chr6:97339239 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.240+17_240+20del |
microsatellite |
not provided [RCV002597165] |
Chr6:96896724..96896727 [GRCh38]
Chr6:97344600..97344603 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.289A>G (p.Lys97Glu) |
single nucleotide variant |
not provided [RCV002801284] |
Chr6:96891343 [GRCh38]
Chr6:97339219 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.51A>C (p.Arg17=) |
single nucleotide variant |
not provided [RCV002741650] |
Chr6:96897751 [GRCh38]
Chr6:97345627 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.9A>G (p.Ala3=) |
single nucleotide variant |
not provided [RCV002765645] |
Chr6:96897793 [GRCh38]
Chr6:97345669 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.419_420delinsGA (p.Gln140Arg) |
indel |
not provided [RCV002711805] |
Chr6:96891212..96891213 [GRCh38]
Chr6:97339088..97339089 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.241-18_241-17insA |
insertion |
not provided [RCV002600363] |
Chr6:96891408..96891409 [GRCh38]
Chr6:97339284..97339285 [GRCh37]
Chr6:6q16.1 |
benign |
| NM_014165.4(NDUFAF4):c.241-14_241-13insC |
insertion |
not provided [RCV002590279] |
Chr6:96891404..96891405 [GRCh38]
Chr6:97339280..97339281 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.27C>A (p.Ile9=) |
single nucleotide variant |
not provided [RCV002680768] |
Chr6:96897775 [GRCh38]
Chr6:97345651 [GRCh37]
Chr6:6q16.1 |
likely benign |
| NM_014165.4(NDUFAF4):c.202G>A (p.Val68Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003361427] |
Chr6:96896782 [GRCh38]
Chr6:97344658 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| NM_014165.4(NDUFAF4):c.287C>T (p.Pro96Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003376789]|not provided [RCV003778069] |
Chr6:96891345 [GRCh38]
Chr6:97339221 [GRCh37]
Chr6:6q16.1 |
uncertain significance |
| GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1 |
copy number loss |
not provided [RCV003482928] |
Chr6:92468126..109410569 [GRCh37]
Chr6:6q15-21 |
pathogenic |
| GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3 |
copy number gain |
not specified [RCV003986668] |
Chr6:91677067..101879124 [GRCh37]
Chr6:6q15-16.3 |
uncertain significance |
