| NM_001130823.3(DNMT1):c.2979C>T (p.Ser993=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000542535] |
Chr19:10143903 [GRCh38]
Chr19:10254579 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000560910]|not specified [RCV000611754] |
Chr19:10166599 [GRCh38]
Chr19:10277275 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.2836G>A (p.Gly946Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000687016]|not specified [RCV000521081] |
Chr19:10146409 [GRCh38]
Chr19:10257085 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000551197] |
Chr19:10149857 [GRCh38]
Chr19:10260533 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.569+10C>T |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000553302] |
Chr19:10177282 [GRCh38]
Chr19:10287958 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789093]|Hereditary sensory neuropathy type IE [RCV000022529]|NEUROPATHY, HEREDITARY SENSORY, TYPE IE [RCV000022529]|not provided [RCV000236669] |
Chr19:10155017 [GRCh38]
Chr19:10265693 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) |
indel |
Hereditary sensory neuropathy type IE [RCV000022530]|NEUROPATHY, HEREDITARY SENSORY, TYPE IE [RCV000022530] |
Chr19:10155029..10155031 [GRCh38]
Chr19:10265705..10265707 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_001130823.3(DNMT1):c.81-3C>T |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000558863]|not specified [RCV000594777] |
Chr19:10182080 [GRCh38]
Chr19:10292756 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=) |
single nucleotide variant |
not provided [RCV000729446] |
Chr19:10143945 [GRCh38]
Chr19:10254621 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.614C>T (p.Ser205Leu) |
single nucleotide variant |
not provided [RCV000728320] |
Chr19:10175574 [GRCh38]
Chr19:10286250 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000559268] |
Chr19:10154326 [GRCh38]
Chr19:10265002 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) |
single nucleotide variant |
not provided [RCV000727879] |
Chr19:10180468 [GRCh38]
Chr19:10291144 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4293+5T>C |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000551752] |
Chr19:10137827 [GRCh38]
Chr19:10248503 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.328G>A (p.Gly110Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000555892] |
Chr19:10180467 [GRCh38]
Chr19:10291143 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4255G>A (p.Ala1419Thr) |
single nucleotide variant |
not specified [RCV000520107] |
Chr19:10137870 [GRCh38]
Chr19:10248546 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.493+1G>A |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000553664] |
Chr19:10180186 [GRCh38]
Chr19:10290862 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4444C>T (p.Arg1482Cys) |
single nucleotide variant |
not specified [RCV000520613] |
Chr19:10137130 [GRCh38]
Chr19:10247806 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000548151] |
Chr19:10137091 [GRCh38]
Chr19:10247767 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) |
single nucleotide variant |
Cerebellar ataxia, deafness, and narcolepsy [RCV000043631]|Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant [RCV000043631] |
Chr19:10154602 [GRCh38]
Chr19:10265278 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) |
single nucleotide variant |
Cerebellar ataxia, deafness, and narcolepsy [RCV000043632]|Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant [RCV000043632] |
Chr19:10154709 [GRCh38]
Chr19:10265385 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) |
single nucleotide variant |
Cerebellar ataxia, deafness, and narcolepsy [RCV000043633]|Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant [RCV000043633] |
Chr19:10154604 [GRCh38]
Chr19:10265280 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|See cases [RCV000052908] |
Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13 |
likely pathogenic |
| NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) |
single nucleotide variant |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant [RCV000660480] |
Chr19:10136141 [GRCh38]
Chr19:10246817 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000327625]|Hereditary sensory neuropathy type IE [RCV000534167]|not provided [RCV000756034]|not specified [RCV000124761] |
Chr19:10180797 [GRCh38]
Chr19:10291473 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000339574]|not specified [RCV000124762] |
Chr19:10162696 [GRCh38]
Chr19:10273372 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000363269]|not specified [RCV000124763] |
Chr19:10154917 [GRCh38]
Chr19:10265593 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.891+8C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000347798]|Hereditary sensory neuropathy type IE [RCV000543823]|not specified [RCV000174041] |
Chr19:10166590 [GRCh38]
Chr19:10277266 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000149568]|NEUROPATHY, HEREDITARY SENSORY, TYPE IE [RCV000149568]|not provided [RCV000236556] |
Chr19:10155018 [GRCh38]
Chr19:10265694 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 |
copy number loss |
See cases [RCV000135403] |
Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 |
copy number gain |
See cases [RCV000136738] |
Chr19:10156406..10889688 [GRCh38]
Chr19:10267082..11000364 [GRCh37]
Chr19:10128082..10861364 [NCBI36]
Chr19:19p13.2 |
pathogenic |
| NM_001130823.3(DNMT1):c.150C>T (p.His50=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000384462]|Hereditary sensory neuropathy type IE [RCV000558362]|not provided [RCV000177120]|not provided [RCV000724451]|not specified [RCV000250596] |
Chr19:10180853 [GRCh38]
Chr19:10291529 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000531007]|not specified [RCV000177449] |
Chr19:10142181 [GRCh38]
Chr19:10252857 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000400726]|Hereditary sensory neuropathy type IE [RCV000540213]|not provided [RCV000177901]|not provided [RCV000755251]|not specified [RCV000203118] |
Chr19:10137146 [GRCh38]
Chr19:10247822 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000557552] |
Chr19:10180388 [GRCh38]
Chr19:10291064 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3031C>T (p.Arg1011Trp) |
single nucleotide variant |
not specified [RCV000218242] |
Chr19:10143851 [GRCh38]
Chr19:10254527 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000313590]|Hereditary sensory neuropathy type IE [RCV000546317]|not specified [RCV000222882] |
Chr19:10173127 [GRCh38]
Chr19:10283803 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) |
single nucleotide variant |
Beckwith-Wiedemann syndrome [RCV000625705]|Dementia, Deafness, and Sensory Neuropathy [RCV000354106]|Hereditary sensory neuropathy type IE [RCV000549690]|not specified [RCV000221683] |
Chr19:10180389 [GRCh38]
Chr19:10291065 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000536816]|not specified [RCV000216984] |
Chr19:10163333 [GRCh38]
Chr19:10274009 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000795227]|not provided [RCV000757171] |
Chr19:10137932 [GRCh38]
Chr19:10248608 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.950A>G (p.Glu317Gly) |
single nucleotide variant |
not provided [RCV000757176] |
Chr19:10162725 [GRCh38]
Chr19:10273401 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000706094]|not specified [RCV000235285] |
Chr19:10180413 [GRCh38]
Chr19:10291089 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000389563]|not specified [RCV000235408] |
Chr19:10148911 [GRCh38]
Chr19:10259587 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) |
single nucleotide variant |
not provided [RCV000757173]|not specified [RCV000235414] |
Chr19:10166621 [GRCh38]
Chr19:10277297 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) |
single nucleotide variant |
Beckwith-Wiedemann syndrome [RCV000625704]|Hereditary sensory neuropathy type IE [RCV000824537]|not specified [RCV000235537] |
Chr19:10141146 [GRCh38]
Chr19:10251822 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1743_1746del (p.Asp581fs) |
deletion |
not specified [RCV000235546] |
Chr19:10154672..10154675 [GRCh38]
Chr19:10265348..10265351 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_001130823.3(DNMT1):c.2689A>G (p.Lys897Glu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000695162]|not specified [RCV000235606] |
Chr19:10148915 [GRCh38]
Chr19:10259591 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000396036]|not provided [RCV000757172]|not specified [RCV000235768] |
Chr19:10133690 [GRCh38]
Chr19:10244366 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000807203]|not specified [RCV000235913] |
Chr19:10180454 [GRCh38]
Chr19:10291130 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000402315]|not provided [RCV000757174]|not specified [RCV000236442] |
Chr19:10175613 [GRCh38]
Chr19:10286289 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) |
single nucleotide variant |
not specified [RCV000236469] |
Chr19:10149919 [GRCh38]
Chr19:10260595 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) |
single nucleotide variant |
not specified [RCV000236975] |
Chr19:10138553 [GRCh38]
Chr19:10249229 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.803+11C>T |
single nucleotide variant |
not specified [RCV000600878] |
Chr19:10168319 [GRCh38]
Chr19:10278995 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.493+8C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000355755]|Hereditary sensory neuropathy type IE [RCV000532934]|not specified [RCV000246523] |
Chr19:10180179 [GRCh38]
Chr19:10290855 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3117-8G>A |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000270703]|not specified [RCV000251603] |
Chr19:10142228 [GRCh38]
Chr19:10252904 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000284312]|Hereditary sensory neuropathy type IE [RCV000525539]|not specified [RCV000246863] |
Chr19:10180505 [GRCh38]
Chr19:10291181 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.768+18C>A |
single nucleotide variant |
not specified [RCV000244687] |
Chr19:10173072 [GRCh38]
Chr19:10283748 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000306290]|not specified [RCV000247150] |
Chr19:10154636 [GRCh38]
Chr19:10265312 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1832+14A>G |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000273263]|not specified [RCV000250299] |
Chr19:10154572 [GRCh38]
Chr19:10265248 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.768+12T>A |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000401791]|not specified [RCV000252889] |
Chr19:10173078 [GRCh38]
Chr19:10283754 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000296832]|Hereditary sensory neuropathy type IE [RCV000544232]|not specified [RCV000243364] |
Chr19:10139685 [GRCh38]
Chr19:10250361 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000385434]|not specified [RCV000245855] |
Chr19:10156401 [GRCh38]
Chr19:10267077 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.2382-4C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000282307]|Hereditary sensory neuropathy type IE [RCV000559051]|not specified [RCV000443281] |
Chr19:10149661 [GRCh38]
Chr19:10260337 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.4554C>T (p.His1518=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000352295]|not specified [RCV000300112] |
Chr19:10136223 [GRCh38]
Chr19:10246899 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.*165T>G |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000283308] |
Chr19:10133502 [GRCh38]
Chr19:10244178 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000266432] |
Chr19:10140156 [GRCh38]
Chr19:10250832 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000305233]|not specified [RCV000732184] |
Chr19:10140891 [GRCh38]
Chr19:10251567 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000275764]|Hereditary sensory neuropathy type IE [RCV000545959]|not specified [RCV000424954] |
Chr19:10155049 [GRCh38]
Chr19:10265725 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000365401]|Hereditary sensory neuropathy type IE [RCV000649389] |
Chr19:10154451 [GRCh38]
Chr19:10265127 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2721-10T>A |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000540474]|not specified [RCV000304011] |
Chr19:10146534 [GRCh38]
Chr19:10257210 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000344075] |
Chr19:10133672 [GRCh38]
Chr19:10244348 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000309242] |
Chr19:10163336 [GRCh38]
Chr19:10274012 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000357701]|not specified [RCV000608261] |
Chr19:10140896 [GRCh38]
Chr19:10251572 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000394305]|Hereditary sensory neuropathy type IE [RCV000557162]|not specified [RCV000602957] |
Chr19:10162698 [GRCh38]
Chr19:10273374 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000275469] |
Chr19:10159714 [GRCh38]
Chr19:10270390 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) |
single nucleotide variant |
not specified [RCV000342305] |
Chr19:10148928 [GRCh38]
Chr19:10259604 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001130823.3(DNMT1):c.-34C>G |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000345581] |
Chr19:10194933 [GRCh38]
Chr19:10305609 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000370565]|Hereditary sensory neuropathy type IE [RCV000649370] |
Chr19:10175555 [GRCh38]
Chr19:10286231 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.3523+9C>T |
single nucleotide variant |
not specified [RCV000274504] |
Chr19:10140772 [GRCh38]
Chr19:10251448 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1044-8del |
deletion |
Dementia, Deafness, and Sensory Neuropathy [RCV000278836] |
Chr19:10160071 [GRCh38]
Chr19:10270747 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3224G>A (p.Arg1075His) |
single nucleotide variant |
not specified [RCV000279535] |
Chr19:10142113 [GRCh38]
Chr19:10252789 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000350017]|Hereditary sensory neuropathy type IE [RCV000528144]|not specified [RCV000434053] |
Chr19:10149567 [GRCh38]
Chr19:10260243 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1044-18dup |
duplication |
Dementia, Deafness, and Sensory Neuropathy [RCV000318835] |
Chr19:10160071 [GRCh38]
Chr19:10270747 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000374439]|Hereditary sensory neuropathy type IE [RCV000547570] |
Chr19:10149576 [GRCh38]
Chr19:10260252 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.1044-9_1044-8del |
deletion |
Dementia, Deafness, and Sensory Neuropathy [RCV000375740] |
Chr19:10160071..10160072 [GRCh38]
Chr19:10270747..10270748 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3948+4G>A |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000400005] |
Chr19:10139672 [GRCh38]
Chr19:10250348 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000323833]|Hereditary sensory neuropathy type IE [RCV000649369] |
Chr19:10180408 [GRCh38]
Chr19:10291084 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000376150]|Hereditary sensory neuropathy type IE [RCV000543299] |
Chr19:10180437 [GRCh38]
Chr19:10291113 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000287080]|Hereditary sensory neuropathy type IE [RCV000537884] |
Chr19:10162694 [GRCh38]
Chr19:10273370 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000327559] |
Chr19:10141148 [GRCh38]
Chr19:10251824 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000379095]|Hereditary sensory neuropathy type IE [RCV000550222] |
Chr19:10162679 [GRCh38]
Chr19:10273355 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3806+6C>T |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000560245]|not specified [RCV000352192] |
Chr19:10140040 [GRCh38]
Chr19:10250716 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000332650] |
Chr19:10146438 [GRCh38]
Chr19:10257114 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2728G>T (p.Val910Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000549552]|not specified [RCV000389896] |
Chr19:10146517 [GRCh38]
Chr19:10257193 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3949-5C>G |
single nucleotide variant |
not specified [RCV000390541] |
Chr19:10138610 [GRCh38]
Chr19:10249286 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000355671]|Hereditary sensory neuropathy type IE [RCV000649386] |
Chr19:10137979 [GRCh38]
Chr19:10248655 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.*18C>A |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000291447] |
Chr19:10133649 [GRCh38]
Chr19:10244325 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000333241] |
Chr19:10155909 [GRCh38]
Chr19:10266585 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1287C>T (p.Tyr429=) |
single nucleotide variant |
not specified [RCV000356717] |
Chr19:10156503 [GRCh38]
Chr19:10267179 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000381513] |
Chr19:10141156 [GRCh38]
Chr19:10251832 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000292771]|not specified [RCV000606678] |
Chr19:10148978 [GRCh38]
Chr19:10259654 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1009-8C>G |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000336299] |
Chr19:10160426 [GRCh38]
Chr19:10271102 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3394+7C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000265487] |
Chr19:10141098 [GRCh38]
Chr19:10251774 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000335290] |
Chr19:10151403 [GRCh38]
Chr19:10262079 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.*18C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000383667] |
Chr19:10133649 [GRCh38]
Chr19:10244325 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4657-15G>A |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000294798] |
Chr19:10135867 [GRCh38]
Chr19:10246543 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2117+13G>A |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000396321]|not specified [RCV000436704] |
Chr19:10151737 [GRCh38]
Chr19:10262413 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=) |
single nucleotide variant |
not provided [RCV000726550]|not specified [RCV000292291] |
Chr19:10146410 [GRCh38]
Chr19:10257086 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001130823.3(DNMT1):c.2019+15G>C |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000343312] |
Chr19:10154278 [GRCh38]
Chr19:10264954 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.2(DNMT1):c.-72C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000397927] |
Chr19:10194971 [GRCh38]
Chr19:10305647 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000399685]|Hereditary sensory neuropathy type IE [RCV000546845]|not specified [RCV000421531] |
Chr19:10154368 [GRCh38]
Chr19:10265044 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.469G>A (p.Ala157Thr) |
single nucleotide variant |
not specified [RCV000399928] |
Chr19:10180211 [GRCh38]
Chr19:10290887 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000316132]|Hereditary sensory neuropathy type IE [RCV000534735]|not provided [RCV000734145] |
Chr19:10180385 [GRCh38]
Chr19:10291061 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000263304]|Hereditary sensory neuropathy type IE [RCV000541045]|not specified [RCV000611086] |
Chr19:10180197 [GRCh38]
Chr19:10290873 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000266358]|Hereditary sensory neuropathy type IE [RCV000556631]|not specified [RCV000420016] |
Chr19:10180402 [GRCh38]
Chr19:10291078 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.926+10T>G |
single nucleotide variant |
not specified [RCV000332710] |
Chr19:10163316 [GRCh38]
Chr19:10273992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000303859] |
Chr19:10154380 [GRCh38]
Chr19:10265056 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2020-10C>T |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000304814]|Hereditary sensory neuropathy type IE [RCV000649390]|not specified [RCV000432591] |
Chr19:10151857 [GRCh38]
Chr19:10262533 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000354176]|Hereditary sensory neuropathy type IE [RCV000649391] |
Chr19:10139688 [GRCh38]
Chr19:10250364 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.385C>A (p.Pro129Thr) |
single nucleotide variant |
not specified [RCV000489739] |
Chr19:10180410 [GRCh38]
Chr19:10291086 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1850G>A (p.Arg617Gln) |
single nucleotide variant |
not specified [RCV000523306] |
Chr19:10154462 [GRCh38]
Chr19:10265138 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.368C>G (p.Ala123Gly) |
single nucleotide variant |
not specified [RCV000490029] |
Chr19:10180427 [GRCh38]
Chr19:10291103 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3767A>G (p.Tyr1256Cys) |
single nucleotide variant |
not provided [RCV000490070] |
Chr19:10140085 [GRCh38]
Chr19:10250761 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000694898]|not specified [RCV000488960] |
Chr19:10140785 [GRCh38]
Chr19:10251461 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.*274T>C |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000380199] |
Chr19:10133393 [GRCh38]
Chr19:10244069 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.*126A>G |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000322121] |
Chr19:10133541 [GRCh38]
Chr19:10244217 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.81-12del |
deletion |
Dementia, Deafness, and Sensory Neuropathy [RCV000287757] |
Chr19:10182089 [GRCh38]
Chr19:10292765 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.2(DNMT1):c.*323C>G |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000278052] |
Chr19:10133344 [GRCh38]
Chr19:10244020 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000312518] |
Chr19:10137921 [GRCh38]
Chr19:10248597 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000312581] |
Chr19:10177361 [GRCh38]
Chr19:10288037 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3196G>A (p.Val1066Met) |
single nucleotide variant |
not specified [RCV000592659] |
Chr19:10142141 [GRCh38]
Chr19:10252817 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000815334]|not specified [RCV000597645] |
Chr19:10149652 [GRCh38]
Chr19:10260328 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000703793]|not specified [RCV000414456] |
Chr19:10142105 [GRCh38]
Chr19:10252781 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000806365]|not specified [RCV000414738] |
Chr19:10194844 [GRCh38]
Chr19:10305520 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=) |
single nucleotide variant |
not provided [RCV000735064] |
Chr19:10156476 [GRCh38]
Chr19:10267152 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) |
single nucleotide variant |
Sleep disturbance [RCV000735392] |
Chr19:10141137 [GRCh38]
Chr19:10251813 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser) |
single nucleotide variant |
Ataxia [RCV000415045] |
Chr19:10180404 [GRCh38]
Chr19:10291080 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) |
single nucleotide variant |
Cerebellar ataxia [RCV000415217]|Cerebral atrophy [RCV000415217] |
Chr19:10148886 [GRCh38]
Chr19:10259562 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.81-7C>T |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000530233] |
Chr19:10182084 [GRCh38]
Chr19:10292760 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2950C>A (p.Leu984Met) |
single nucleotide variant |
not provided [RCV000734012] |
Chr19:10143932 [GRCh38]
Chr19:10254608 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3975T>C (p.Thr1325=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000537211] |
Chr19:10138579 [GRCh38]
Chr19:10249255 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2602G>A (p.Glu868Lys) |
single nucleotide variant |
not specified [RCV000414199] |
Chr19:10149002 [GRCh38]
Chr19:10259678 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) |
copy number gain |
See cases [RCV000446985] |
Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1 |
copy number loss |
See cases [RCV000446752] |
Chr19:10286133..11040457 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_001130823.3(DNMT1):c.80+11T>C |
single nucleotide variant |
not specified [RCV000437804] |
Chr19:10194809 [GRCh38]
Chr19:10305485 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1245T>C (p.Tyr415=) |
single nucleotide variant |
not specified [RCV000427518] |
Chr19:10159693 [GRCh38]
Chr19:10270369 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649376]|not specified [RCV000421081] |
Chr19:10160054 [GRCh38]
Chr19:10270730 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3807-14C>T |
single nucleotide variant |
not specified [RCV000434745] |
Chr19:10139831 [GRCh38]
Chr19:10250507 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3117-9C>T |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000554992]|not specified [RCV000424396] |
Chr19:10142229 [GRCh38]
Chr19:10252905 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1722G>A (p.Val574=) |
single nucleotide variant |
not specified [RCV000428163] |
Chr19:10154696 [GRCh38]
Chr19:10265372 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.-45C>T |
single nucleotide variant |
not specified [RCV000428178] |
Chr19:10194944 [GRCh38]
Chr19:10305620 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1832+10C>T |
single nucleotide variant |
not specified [RCV000438580] |
Chr19:10154576 [GRCh38]
Chr19:10265252 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2010C>T (p.Gly670=) |
single nucleotide variant |
not specified [RCV000442412] |
Chr19:10154302 [GRCh38]
Chr19:10264978 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2913C>T (p.Pro971=) |
single nucleotide variant |
not specified [RCV000442413] |
Chr19:10143969 [GRCh38]
Chr19:10254645 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.117+19T>C |
single nucleotide variant |
not specified [RCV000421267] |
Chr19:10182022 [GRCh38]
Chr19:10292698 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000544895]|not specified [RCV000438890] |
Chr19:10163327 [GRCh38]
Chr19:10274003 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.2382-15G>A |
single nucleotide variant |
not specified [RCV000418803] |
Chr19:10149672 [GRCh38]
Chr19:10260348 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=) |
single nucleotide variant |
not specified [RCV000435537] |
Chr19:10136178 [GRCh38]
Chr19:10246854 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1131C>T (p.Asp377=) |
single nucleotide variant |
not specified [RCV000421761] |
Chr19:10159881 [GRCh38]
Chr19:10270557 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2587-18G>A |
single nucleotide variant |
not specified [RCV000442989] |
Chr19:10149035 [GRCh38]
Chr19:10259711 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1707C>T (p.His569=) |
single nucleotide variant |
not specified [RCV000421971] |
Chr19:10154711 [GRCh38]
Chr19:10265387 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4116-9C>T |
single nucleotide variant |
not specified [RCV000432440] |
Chr19:10138018 [GRCh38]
Chr19:10248694 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000695923]|not provided [RCV000427007] |
Chr19:10143968 [GRCh38]
Chr19:10254644 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1116C>T (p.Cys372=) |
single nucleotide variant |
not specified [RCV000436229] |
Chr19:10159896 [GRCh38]
Chr19:10270572 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000791920]|not specified [RCV000439839] |
Chr19:10138522 [GRCh38]
Chr19:10249198 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_001130823.3(DNMT1):c.4294-17C>A |
single nucleotide variant |
not specified [RCV000436291] |
Chr19:10137297 [GRCh38]
Chr19:10247973 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.4294-19G>C |
single nucleotide variant |
not specified [RCV000426039] |
Chr19:10137299 [GRCh38]
Chr19:10247975 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.4115+16C>T |
single nucleotide variant |
not specified [RCV000426118] |
Chr19:10138423 [GRCh38]
Chr19:10249099 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000528743]|not specified [RCV000426319] |
Chr19:10136274 [GRCh38]
Chr19:10246950 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649368]|not specified [RCV000433370] |
Chr19:10154416 [GRCh38]
Chr19:10265092 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1280+14C>G |
single nucleotide variant |
not specified [RCV000444085] |
Chr19:10159644 [GRCh38]
Chr19:10270320 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.45C>A (p.Val15=) |
single nucleotide variant |
not specified [RCV000444357] |
Chr19:10194855 [GRCh38]
Chr19:10305531 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1095C>T (p.His365=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000545042]|not specified [RCV000444392] |
Chr19:10159917 [GRCh38]
Chr19:10270593 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3283G>A (p.Gly1095Ser) |
single nucleotide variant |
not specified [RCV000420493] |
Chr19:10142054 [GRCh38]
Chr19:10252730 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000552950]|not specified [RCV000430813] |
Chr19:10159732 [GRCh38]
Chr19:10270408 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.4773+18C>T |
single nucleotide variant |
not specified [RCV000437429] |
Chr19:10135718 [GRCh38]
Chr19:10246394 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4734C>T (p.Thr1578=) |
single nucleotide variant |
not specified [RCV000437509] |
Chr19:10135775 [GRCh38]
Chr19:10246451 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1535C>T (p.Ala512Val) |
single nucleotide variant |
not specified [RCV000480106] |
Chr19:10155014 [GRCh38]
Chr19:10265690 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1058T>C (p.Met353Thr) |
single nucleotide variant |
not specified [RCV000481913] |
Chr19:10160049 [GRCh38]
Chr19:10270725 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1080G>A (p.Met360Ile) |
single nucleotide variant |
not specified [RCV000478729] |
Chr19:10160027 [GRCh38]
Chr19:10270703 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2791G>A (p.Glu931Lys) |
single nucleotide variant |
DNMT1-Related Disorder [RCV000509183] |
Chr19:10146454 [GRCh38]
Chr19:10257130 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000531964] |
Chr19:10140812 [GRCh38]
Chr19:10251488 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1378G>C (p.Asp460His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000533491] |
Chr19:10156412 [GRCh38]
Chr19:10267088 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1833-4G>A |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000534393] |
Chr19:10154483 [GRCh38]
Chr19:10265159 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2383G>A (p.Val795Ile) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000535098] |
Chr19:10149656 [GRCh38]
Chr19:10260332 [GRCh37]
Chr19:19p13.2 |
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_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000540967] |
Chr19:10177341 [GRCh38]
Chr19:10288017 [GRCh37]
Chr19:19p13.2 |
likely benign |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_001130823.3(DNMT1):c.1536G>A (p.Ala512=) |
single nucleotide variant |
not specified [RCV000609456] |
Chr19:10155013 [GRCh38]
Chr19:10265689 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000538884] |
Chr19:10142075 [GRCh38]
Chr19:10252751 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2720+8C>T |
single nucleotide variant |
not specified [RCV000600519] |
Chr19:10148876 [GRCh38]
Chr19:10259552 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.734C>T (p.Thr245Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000797299]|not specified [RCV000597356] |
Chr19:10173124 [GRCh38]
Chr19:10283800 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3310-18C>T |
single nucleotide variant |
not specified [RCV000610979] |
Chr19:10141207 [GRCh38]
Chr19:10251883 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4293+17A>G |
single nucleotide variant |
not specified [RCV000613793] |
Chr19:10137815 [GRCh38]
Chr19:10248491 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000527757]|not specified [RCV000602650] |
Chr19:10137206 [GRCh38]
Chr19:10247882 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_001130823.3(DNMT1):c.687T>G (p.Val229=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000529445] |
Chr19:10173171 [GRCh38]
Chr19:10283847 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3831G>T (p.Arg1277=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000531743] |
Chr19:10139793 [GRCh38]
Chr19:10250469 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3186C>T (p.Asp1062=) |
single nucleotide variant |
not specified [RCV000609104] |
Chr19:10142151 [GRCh38]
Chr19:10252827 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4490-4C>T |
single nucleotide variant |
not specified [RCV000614773] |
Chr19:10136291 [GRCh38]
Chr19:10246967 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3524-16G>A |
single nucleotide variant |
not specified [RCV000614888] |
Chr19:10140344 [GRCh38]
Chr19:10251020 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) |
single nucleotide variant |
Beckwith-Wiedemann syndrome [RCV000625706]|Hereditary sensory neuropathy type IE [RCV000813215] |
Chr19:10140184 [GRCh38]
Chr19:10250860 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4327C>A (p.His1443Asn) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649352] |
Chr19:10137247 [GRCh38]
Chr19:10247923 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.78G>C (p.Arg26Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649353] |
Chr19:10194822 [GRCh38]
Chr19:10305498 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.299A>G (p.Asn100Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649354] |
Chr19:10180496 [GRCh38]
Chr19:10291172 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.874G>A (p.Glu292Lys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649355] |
Chr19:10166615 [GRCh38]
Chr19:10277291 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649356] |
Chr19:10160041 [GRCh38]
Chr19:10270717 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649357] |
Chr19:10160043 [GRCh38]
Chr19:10270719 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.737G>A (p.Arg246His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649358] |
Chr19:10173121 [GRCh38]
Chr19:10283797 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2794G>A (p.Asp932Asn) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649359] |
Chr19:10146451 [GRCh38]
Chr19:10257127 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3523+6C>T |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649360] |
Chr19:10140775 [GRCh38]
Chr19:10251451 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4427A>G (p.His1476Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649361] |
Chr19:10137147 [GRCh38]
Chr19:10247823 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649362] |
Chr19:10180479 [GRCh38]
Chr19:10291155 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649363] |
Chr19:10180413 [GRCh38]
Chr19:10291089 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1645-10C>A |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649364] |
Chr19:10154783 [GRCh38]
Chr19:10265459 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2018A>G (p.Glu673Gly) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649365] |
Chr19:10154294 [GRCh38]
Chr19:10264970 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2474C>T (p.Ser825Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649366] |
Chr19:10149565 [GRCh38]
Chr19:10260241 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.225+4A>G |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649367] |
Chr19:10180774 [GRCh38]
Chr19:10291450 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1845G>A (p.Ala615=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649371] |
Chr19:10154467 [GRCh38]
Chr19:10265143 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.493+7G>A |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649372] |
Chr19:10180180 [GRCh38]
Chr19:10290856 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649373] |
Chr19:10148937 [GRCh38]
Chr19:10259613 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1911C>T (p.Thr637=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649374] |
Chr19:10154401 [GRCh38]
Chr19:10265077 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1608C>T (p.Ser536=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649375] |
Chr19:10154941 [GRCh38]
Chr19:10265617 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2625C>T (p.Asp875=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649377] |
Chr19:10148979 [GRCh38]
Chr19:10259655 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649378]|not provided [RCV000757175] |
Chr19:10149966 [GRCh38]
Chr19:10260642 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1044-9T>C |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649379] |
Chr19:10160072 [GRCh38]
Chr19:10270748 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649380] |
Chr19:10134221 [GRCh38]
Chr19:10244897 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.2475G>A (p.Ser825=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649381] |
Chr19:10149564 [GRCh38]
Chr19:10260240 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.4140C>T (p.Thr1380=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649382] |
Chr19:10137985 [GRCh38]
Chr19:10248661 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.390A>G (p.Lys130=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649383] |
Chr19:10180405 [GRCh38]
Chr19:10291081 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1281T>C (p.Ser427=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649384] |
Chr19:10156509 [GRCh38]
Chr19:10267185 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1320C>T (p.Thr440=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649385] |
Chr19:10156470 [GRCh38]
Chr19:10267146 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3840C>G (p.Leu1280=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649387] |
Chr19:10139784 [GRCh38]
Chr19:10250460 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.1821G>A (p.Thr607=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000649388] |
Chr19:10154597 [GRCh38]
Chr19:10265273 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.683+16A>C |
single nucleotide variant |
not specified [RCV000602168] |
Chr19:10173855 [GRCh38]
Chr19:10284531 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3963C>T (p.Gly1321=) |
single nucleotide variant |
not specified [RCV000607706] |
Chr19:10138591 [GRCh38]
Chr19:10249267 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2894+15G>A |
single nucleotide variant |
not specified [RCV000600091] |
Chr19:10146336 [GRCh38]
Chr19:10257012 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2587-19C>T |
single nucleotide variant |
not specified [RCV000606021] |
Chr19:10149036 [GRCh38]
Chr19:10259712 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.856G>A (p.Val286Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000692423]|not provided [RCV000657954] |
Chr19:10166633 [GRCh38]
Chr19:10277309 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1303C>G (p.Leu435Val) |
single nucleotide variant |
not provided [RCV000658816] |
Chr19:10156487 [GRCh38]
Chr19:10267163 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3909G>A (p.Leu1303=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000685739] |
Chr19:10139715 [GRCh38]
Chr19:10250391 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4181G>A (p.Arg1394Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000699044] |
Chr19:10137944 [GRCh38]
Chr19:10248620 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4216G>A (p.Gly1406Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000699651] |
Chr19:10137909 [GRCh38]
Chr19:10248585 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3830G>A (p.Arg1277Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000698993] |
Chr19:10139794 [GRCh38]
Chr19:10250470 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000700835] |
Chr19:10180494 [GRCh38]
Chr19:10291170 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1393C>G (p.Leu465Val) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000700412] |
Chr19:10156397 [GRCh38]
Chr19:10267073 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2926C>T (p.Arg976Trp) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000701509] |
Chr19:10143956 [GRCh38]
Chr19:10254632 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3901C>T (p.Arg1301Cys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000692836] |
Chr19:10139723 [GRCh38]
Chr19:10250399 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2030A>G (p.Gln677Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000693098] |
Chr19:10151837 [GRCh38]
Chr19:10262513 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2113C>T (p.Arg705Trp) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000707569] |
Chr19:10151754 [GRCh38]
Chr19:10262430 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1983G>T (p.Glu661Asp) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000694070] |
Chr19:10154329 [GRCh38]
Chr19:10265005 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4741C>T (p.Leu1581Phe) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000688812] |
Chr19:10135768 [GRCh38]
Chr19:10246444 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3293G>A (p.Arg1098His) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000688870] |
Chr19:10142044 [GRCh38]
Chr19:10252720 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.938G>A (p.Arg313Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000699287] |
Chr19:10162737 [GRCh38]
Chr19:10273413 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000684934] |
Chr19:10140806 [GRCh38]
Chr19:10251482 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.803C>T (p.Pro268Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000686192] |
Chr19:10168330 [GRCh38]
Chr19:10279006 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.63C>A (p.Pro21=) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000706619] |
Chr19:10194837 [GRCh38]
Chr19:10305513 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000692609] |
Chr19:10180566 [GRCh38]
Chr19:10291242 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000689851] |
Chr19:10173163 [GRCh38]
Chr19:10283839 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000695747] |
Chr19:10177335 [GRCh38]
Chr19:10288011 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1108A>C (p.Ile370Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000696024] |
Chr19:10159904 [GRCh38]
Chr19:10270580 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2108A>G (p.Gln703Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000696146] |
Chr19:10151759 [GRCh38]
Chr19:10262435 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.302G>A (p.Arg101Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000703179] |
Chr19:10180493 [GRCh38]
Chr19:10291169 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.894_896del (p.Asp298del) |
deletion |
Hereditary sensory neuropathy type IE [RCV000685139] |
Chr19:10163356..10163358 [GRCh38]
Chr19:10274032..10274034 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4739G>A (p.Arg1580Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000699020] |
Chr19:10135770 [GRCh38]
Chr19:10246446 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000700930] |
Chr19:10134262 [GRCh38]
Chr19:10244938 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2068G>A (p.Val690Ile) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000706160] |
Chr19:10151799 [GRCh38]
Chr19:10262475 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000694576] |
Chr19:10166632 [GRCh38]
Chr19:10277308 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NC_000019.10:g.10146214_10146215del |
deletion |
not provided [RCV000835840] |
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.649-62G>A |
single nucleotide variant |
not provided [RCV000833885] |
Chr19:10173967 [GRCh38]
Chr19:10284643 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1492+30G>A |
single nucleotide variant |
not provided [RCV000833886] |
Chr19:10155823 [GRCh38]
Chr19:10266499 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.527A>G (p.Lys176Arg) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000804401] |
Chr19:10177334 [GRCh38]
Chr19:10288010 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1051A>G (p.Lys351Glu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000793586] |
Chr19:10160056 [GRCh38]
Chr19:10270732 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000810355] |
Chr19:10155029 [GRCh38]
Chr19:10265705 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=) |
single nucleotide variant |
not provided [RCV000828355] |
Chr19:10136151 [GRCh38]
Chr19:10246827 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3401G>A (p.Gly1134Asp) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000797054] |
Chr19:10140903 [GRCh38]
Chr19:10251579 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000798506] |
Chr19:10160384 [GRCh38]
Chr19:10271060 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2888C>T (p.Thr963Met) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000821647] |
Chr19:10146357 [GRCh38]
Chr19:10257033 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1066G>T (p.Ala356Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000814609] |
Chr19:10160041 [GRCh38]
Chr19:10270717 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000824549] |
Chr19:10163354 [GRCh38]
Chr19:10274030 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1645-1G>T |
single nucleotide variant |
Meningioma [RCV000786034] |
Chr19:10154774 [GRCh38]
Chr19:10265450 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_001130823.3(DNMT1):c.569+126C>T |
single nucleotide variant |
not provided [RCV000836547] |
Chr19:10177166 [GRCh38]
Chr19:10287842 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.2586+45G>A |
single nucleotide variant |
not provided [RCV000838510] |
Chr19:10149408 [GRCh38]
Chr19:10260084 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3310-133T>C |
single nucleotide variant |
not provided [RCV000838511] |
Chr19:10141322 [GRCh38]
Chr19:10251998 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3117-288T>C |
single nucleotide variant |
not provided [RCV000840354] |
Chr19:10142508 [GRCh38]
Chr19:10253184 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1196A>G (p.Asn399Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000820190] |
Chr19:10159742 [GRCh38]
Chr19:10270418 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.451A>G (p.Arg151Gly) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000796039] |
Chr19:10180229 [GRCh38]
Chr19:10290905 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2836G>T (p.Gly946Cys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000792206] |
Chr19:10146409 [GRCh38]
Chr19:10257085 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1642G>A (p.Glu548Lys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000815436] |
Chr19:10154907 [GRCh38]
Chr19:10265583 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3116+327C>T |
single nucleotide variant |
not provided [RCV000827472] |
Chr19:10143439 [GRCh38]
Chr19:10254115 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789094] |
Chr19:10155029 [GRCh38]
Chr19:10265705 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789096] |
Chr19:10154712 [GRCh38]
Chr19:10265388 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3523+90C>G |
single nucleotide variant |
not provided [RCV000838512] |
Chr19:10140691 [GRCh38]
Chr19:10251367 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.4865-154G>A |
single nucleotide variant |
not provided [RCV000838513] |
Chr19:10133855 [GRCh38]
Chr19:10244531 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.649-197T>C |
single nucleotide variant |
not provided [RCV000838961] |
Chr19:10174102 [GRCh38]
Chr19:10284778 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.769-149A>G |
single nucleotide variant |
not provided [RCV000838962] |
Chr19:10168513 [GRCh38]
Chr19:10279189 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3117-203A>C |
single nucleotide variant |
not provided [RCV000838965] |
Chr19:10142423 [GRCh38]
Chr19:10253099 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.3352C>T (p.His1118Tyr) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000797165] |
Chr19:10141147 [GRCh38]
Chr19:10251823 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del) |
microsatellite |
Charcot-Marie-Tooth disease [RCV000789095] |
Chr19:10154985..10154987 [GRCh38]
Chr19:10265661..10265663 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2366C>T (p.Pro789Leu) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000807545] |
Chr19:10149868 [GRCh38]
Chr19:10260544 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.931G>T (p.Ala311Ser) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000804583] |
Chr19:10162744 [GRCh38]
Chr19:10273420 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1170+5G>C |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000794921] |
Chr19:10159837 [GRCh38]
Chr19:10270513 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1008+26C>T |
single nucleotide variant |
not provided [RCV000829629] |
Chr19:10162641 [GRCh38]
Chr19:10273317 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.692G>A (p.Arg231Lys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000798612] |
Chr19:10173166 [GRCh38]
Chr19:10283842 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3394+34T>C |
single nucleotide variant |
not provided [RCV000829657] |
Chr19:10141071 [GRCh38]
Chr19:10251747 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.2020-289C>A |
single nucleotide variant |
not provided [RCV000827471] |
Chr19:10152136 [GRCh38]
Chr19:10262812 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.892-84G>A |
single nucleotide variant |
not provided [RCV000829656] |
Chr19:10163444 [GRCh38]
Chr19:10274120 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.1394T>C (p.Leu465Pro) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000795070] |
Chr19:10156396 [GRCh38]
Chr19:10267072 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000791672] |
Chr19:10154325 [GRCh38]
Chr19:10265001 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.118-7C>G |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000824485] |
Chr19:10180892 [GRCh38]
Chr19:10291568 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2711A>T (p.Asn904Ile) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000818833] |
Chr19:10148893 [GRCh38]
Chr19:10259569 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.804-57C>T |
single nucleotide variant |
not provided [RCV000837362] |
Chr19:10166742 [GRCh38]
Chr19:10277418 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_001130823.3(DNMT1):c.3116+3C>G |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000794377] |
Chr19:10143763 [GRCh38]
Chr19:10254439 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2721-45C>T |
single nucleotide variant |
not provided [RCV000841155] |
Chr19:10146569 [GRCh38]
Chr19:10257245 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) |
single nucleotide variant |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant [RCV000785085]|Hereditary sensory neuropathy type IE [RCV000785084] |
Chr19:10173904 [GRCh38]
Chr19:10284580 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.3223C>T (p.Arg1075Cys) |
single nucleotide variant |
Hereditary sensory neuropathy type IE [RCV000803853] |
Chr19:10142114 [GRCh38]
Chr19:10252790 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_001130823.3(DNMT1):c.2211_2213GAA[5] (p.Lys741dup) |
microsatellite |
Hereditary sensory neuropathy type IE [RCV000814498] |
Chr19:10151441..10151443 [GRCh38]
Chr19:10262116..10262117 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
Gene-Chemical Interaction Annotations
