NM_001130823.3(DNMT1):c.2979C>T (p.Ser993=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000542535] |
Chr19:10143903 [GRCh38] Chr19:10254579 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.620A>C (p.Glu207Ala) |
single nucleotide variant |
not provided [RCV001507410] |
Chr19:10175568 [GRCh38] Chr19:10286244 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000560910]|Inborn genetic diseases [RCV002448767]|not provided [RCV001722508] |
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-deafness-dementia syndrome [RCV000687016]|not provided [RCV000521081] |
Chr19:10146409 [GRCh38] Chr19:10257085 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000551197] |
Chr19:10149857 [GRCh38] Chr19:10260533 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.569+10C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000553302] |
Chr19:10177282 [GRCh38] Chr19:10287958 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002283444]|Charcot-Marie-Tooth disease [RCV000789093]|Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000022530] |
Chr19:10155029..10155031 [GRCh38] Chr19:10265705..10265707 [GRCh37] Chr19:19p13.2 |
pathogenic |
NC_000019.10:g.10195193ATTC[5] |
microsatellite |
not provided [RCV001571587] |
Chr19:10195191..10195192 [GRCh38] Chr19:10305867..10305868 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+205C>T |
single nucleotide variant |
not provided [RCV001564391] |
Chr19:10135531 [GRCh38] Chr19:10246207 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.81-3C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000558863]|Inborn genetic diseases [RCV002420504]|not provided [RCV001573162]|not specified [RCV000594777] |
Chr19:10182080 [GRCh38] Chr19:10292756 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002067095]|not provided [RCV000729446] |
Chr19:10143945 [GRCh38] Chr19:10254621 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.614C>T (p.Ser205Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001236660]|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 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002506362]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000559268] |
Chr19:10154326 [GRCh38] Chr19:10265002 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001078855]|not provided [RCV000727879] |
Chr19:10180468 [GRCh38] Chr19:10291144 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.4293+5T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000551752]|Inborn genetic diseases [RCV003159901] |
Chr19:10137827 [GRCh38] Chr19:10248503 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.328G>A (p.Gly110Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000555892]|Inborn genetic diseases [RCV002324033] |
Chr19:10180467 [GRCh38] Chr19:10291143 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4255G>A (p.Ala1419Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001853649]|not provided [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-deafness-dementia syndrome [RCV002060348]|not provided [RCV000553664] |
Chr19:10180186 [GRCh38] Chr19:10290862 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4444C>T (p.Arg1482Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001857998]|Inborn genetic diseases [RCV003243168]|not provided [RCV000520613] |
Chr19:10137130 [GRCh38] Chr19:10247806 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002476186]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000548151] |
Chr19:10137091 [GRCh38] Chr19:10247767 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000043631]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447103] |
Chr19:10154602 [GRCh38] Chr19:10265278 [GRCh37] Chr19:19p13.2 |
pathogenic|uncertain significance |
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000043632]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002513639]|not provided [RCV001092943] |
Chr19:10154709 [GRCh38] Chr19:10265385 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000043633]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447104] |
Chr19:10154604 [GRCh38] Chr19:10265280 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
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 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000660480] |
Chr19:10136141 [GRCh38] Chr19:10246817 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000756034]|not provided [RCV001573952]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000543823]|not provided [RCV001572674]|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-deafness-dementia syndrome [RCV000149568]|not provided [RCV000236556] |
Chr19:10155018 [GRCh38] Chr19:10265694 [GRCh37] Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
NM_001130823.3(DNMT1):c.4845A>T (p.Lys1615Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001349202]|not provided [RCV001762595] |
Chr19:10134236 [GRCh38] Chr19:10244912 [GRCh37] Chr19:19p13.2 |
uncertain significance |
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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001084104]|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-deafness-dementia syndrome [RCV001078957]|not provided [RCV000177449] |
Chr19:10142181 [GRCh38] Chr19:10252857 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000755251]|Inborn genetic diseases [RCV002326974]|not provided [RCV001573463]|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-deafness-dementia syndrome [RCV000557552]|Inborn genetic diseases [RCV002324034] |
Chr19:10180388 [GRCh38] Chr19:10291064 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3031C>T (p.Arg1011Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001854753]|not provided [RCV000218242] |
Chr19:10143851 [GRCh38] Chr19:10254527 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002494602]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000546317]|Inborn genetic diseases [RCV002365164]|not provided [RCV001705233]|not specified [RCV000222882] |
Chr19:10173127 [GRCh38] Chr19:10283803 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) |
single nucleotide variant |
Beckwith-Wiedemann syndrome [RCV000625705]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000549690]|Inborn genetic diseases [RCV002321845]|not provided [RCV000996738] |
Chr19:10180389 [GRCh38] Chr19:10291065 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) |
single nucleotide variant |
DNMT1-related condition [RCV003390974]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000536816]|not provided [RCV000216984] |
Chr19:10163333 [GRCh38] Chr19:10274009 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000795227]|Inborn genetic diseases [RCV002332537]|not provided [RCV000757171] |
Chr19:10137932 [GRCh38] Chr19:10248608 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|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-deafness-dementia syndrome [RCV000706094]|Inborn genetic diseases [RCV002356327]|not specified [RCV000235285] |
Chr19:10180413 [GRCh38] Chr19:10291089 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001088607]|Inborn genetic diseases [RCV002429155]|not provided [RCV000235408] |
Chr19:10148911 [GRCh38] Chr19:10259587 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001082230]|Inborn genetic diseases [RCV002429151]|not provided [RCV000757173] |
Chr19:10166621 [GRCh38] Chr19:10277297 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001336229]|Beckwith-Wiedemann syndrome [RCV000625704]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000824537]|Inborn genetic diseases [RCV002321905]|not provided [RCV000235537] |
Chr19:10141146 [GRCh38] Chr19:10251822 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1743_1746del (p.Asp581fs) |
deletion |
not provided [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-deafness-dementia syndrome [RCV000695162]|not provided [RCV000235606] |
Chr19:10148915 [GRCh38] Chr19:10259591 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001084724]|Inborn genetic diseases [RCV002327161]|not provided [RCV000757172] |
Chr19:10133690 [GRCh38] Chr19:10244366 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000807203]|Inborn genetic diseases [RCV002450736]|not provided [RCV000235913] |
Chr19:10180454 [GRCh38] Chr19:10291130 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001086953]|Inborn genetic diseases [RCV002347928]|not provided [RCV000757174] |
Chr19:10175613 [GRCh38] Chr19:10286289 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002487104]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001854878]|Inborn genetic diseases [RCV002446465]|not provided [RCV000236469] |
Chr19:10149919 [GRCh38] Chr19:10260595 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002479942]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001857804]|Inborn genetic diseases [RCV003165660]|not provided [RCV000236975] |
Chr19:10138553 [GRCh38] Chr19:10249229 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.803+11C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063989]|not specified [RCV000600878] |
Chr19:10168319 [GRCh38] Chr19:10278995 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.493+8C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000532934]|not provided [RCV001573052]|not specified [RCV000246523] |
Chr19:10180179 [GRCh38] Chr19:10290855 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3117-8G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000270703]|not specified [RCV000251603] |
Chr19:10142228 [GRCh38] Chr19:10252904 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000525539]|not provided [RCV000991907]|not specified [RCV000246863] |
Chr19:10180505 [GRCh38] Chr19:10291181 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.768+18C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002057980]|not provided [RCV001530880]|not specified [RCV000244687] |
Chr19:10173072 [GRCh38] Chr19:10283748 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001658197]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000306290]|not provided [RCV001534627]|not specified [RCV000247150] |
Chr19:10154636 [GRCh38] Chr19:10265312 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1832+14A>G |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001658198]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000273263]|not provided [RCV001683010]|not specified [RCV000250299] |
Chr19:10154572 [GRCh38] Chr19:10265248 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.768+12T>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000401791]|not provided [RCV001722299]|not specified [RCV000252889] |
Chr19:10173078 [GRCh38] Chr19:10283754 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000544232]|not provided [RCV000991908]|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 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001658196]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000385434]|not provided [RCV001618408]|not specified [RCV000245855] |
Chr19:10156401 [GRCh38] Chr19:10267077 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2382-4C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000559051]|not provided [RCV001573134]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000352295]|not provided [RCV000300112] |
Chr19:10136223 [GRCh38] Chr19:10246899 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.*165T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000283308]|not provided [RCV003422300] |
Chr19:10133502 [GRCh38] Chr19:10244178 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000874257] |
Chr19:10140156 [GRCh38] Chr19:10250832 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000874428]|not provided [RCV001582968]|not specified [RCV000732184] |
Chr19:10140891 [GRCh38] Chr19:10251567 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000545959]|not provided [RCV001726118]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649389]|not provided [RCV003221922] |
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-deafness-dementia syndrome [RCV000540474]|not provided [RCV000304011] |
Chr19:10146534 [GRCh38] Chr19:10257210 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000344075]|Inborn genetic diseases [RCV003362758] |
Chr19:10133672 [GRCh38] Chr19:10244348 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000309242]|Inborn genetic diseases [RCV002374558] |
Chr19:10163336 [GRCh38] Chr19:10274012 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000873682]|not provided [RCV001705486] |
Chr19:10140896 [GRCh38] Chr19:10251572 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000557162]|Inborn genetic diseases [RCV002374557]|not specified [RCV000602957] |
Chr19:10162698 [GRCh38] Chr19:10273374 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002502263]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000875535]|not provided [RCV001563516] |
Chr19:10159714 [GRCh38] Chr19:10270390 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000871322]|not provided [RCV001705424]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000345581] |
Chr19:10194933 [GRCh38] Chr19:10305609 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649370]|not provided [RCV001690088] |
Chr19:10175555 [GRCh38] Chr19:10286231 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3523+9C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002518017]|not provided [RCV000274504] |
Chr19:10140772 [GRCh38] Chr19:10251448 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1044-8del |
deletion |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001660676]|Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002502264]|Dementia, Deafness, and Sensory Neuropathy [RCV000278836]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001521141]|not provided [RCV001573706]|not specified [RCV001726119] |
Chr19:10160071 [GRCh38] Chr19:10270747 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3224G>A (p.Arg1075His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001859661]|not provided [RCV000279535] |
Chr19:10142113 [GRCh38] Chr19:10252789 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000528144]|not provided [RCV001311156]|not specified [RCV000434053] |
Chr19:10149567 [GRCh38] Chr19:10260243 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1044-18dup |
duplication |
Dementia, Deafness, and Sensory Neuropathy [RCV000318835]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000878084] |
Chr19:10160070..10160071 [GRCh38] Chr19:10270746..10270747 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002504107]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000547570]|not provided [RCV001531880]|not specified [RCV001699457] |
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]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001510272]|not provided [RCV001573408]|not specified [RCV001700061] |
Chr19:10160071..10160072 [GRCh38] Chr19:10270747..10270748 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3948+4G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001053369] |
Chr19:10139672 [GRCh38] Chr19:10250348 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649369]|not provided [RCV001575588] |
Chr19:10180408 [GRCh38] Chr19:10291084 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000543299]|not provided [RCV001573972]|not specified [RCV001699373] |
Chr19:10180437 [GRCh38] Chr19:10291113 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000537884]|Inborn genetic diseases [RCV002374556]|not provided [RCV001672549] |
Chr19:10162694 [GRCh38] Chr19:10273370 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000874537]|not provided [RCV001653593] |
Chr19:10141148 [GRCh38] Chr19:10251824 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000550222]|not provided [RCV001718684] |
Chr19:10162679 [GRCh38] Chr19:10273355 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3806+6C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001080416]|not provided [RCV000352192] |
Chr19:10140040 [GRCh38] Chr19:10250716 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln) |
single nucleotide variant |
Dementia, Deafness, and Sensory Neuropathy [RCV000332650]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001042762]|Inborn genetic diseases [RCV002436180] |
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-deafness-dementia syndrome [RCV000549552]|Inborn genetic diseases [RCV002436108]|not provided [RCV000389896] |
Chr19:10146517 [GRCh38] Chr19:10257193 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3949-5C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001500503]|not provided [RCV000390541] |
Chr19:10138610 [GRCh38] Chr19:10249286 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649386]|not provided [RCV001540739] |
Chr19:10137979 [GRCh38] Chr19:10248655 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.*18C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000291447] |
Chr19:10133649 [GRCh38] Chr19:10244325 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000333241]|Inborn genetic diseases [RCV002392881]|not provided [RCV001358546] |
Chr19:10155909 [GRCh38] Chr19:10266585 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1287C>T (p.Tyr429=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001453327]|not provided [RCV000356717] |
Chr19:10156503 [GRCh38] Chr19:10267179 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000381513] |
Chr19:10141156 [GRCh38] Chr19:10251832 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000954808]|Inborn genetic diseases [RCV002450889]|not specified [RCV000606678] |
Chr19:10148978 [GRCh38] Chr19:10259654 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1009-8C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000336299] |
Chr19:10160426 [GRCh38] Chr19:10271102 [GRCh37] Chr19:19p13.2 |
benign|uncertain significance |
NM_001130823.3(DNMT1):c.3394+7C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000265487] |
Chr19:10141098 [GRCh38] Chr19:10251774 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000335290]|not provided [RCV002521178] |
Chr19:10151403 [GRCh38] Chr19:10262079 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.*18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000383667] |
Chr19:10133649 [GRCh38] Chr19:10244325 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4657-15G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000294798] |
Chr19:10135867 [GRCh38] Chr19:10246543 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2117+13G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000396321]|not provided [RCV001698506]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001468950]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000343312] |
Chr19:10154278 [GRCh38] Chr19:10264954 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.2(DNMT1):c.-72C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000397927] |
Chr19:10194971 [GRCh38] Chr19:10305647 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000546845]|not provided [RCV001812858]|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 provided [RCV000399928] |
Chr19:10180211 [GRCh38] Chr19:10290887 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000534735]|Inborn genetic diseases [RCV003352838]|not provided [RCV000734145] |
Chr19:10180385 [GRCh38] Chr19:10291061 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000541045]|not provided [RCV001697821] |
Chr19:10180197 [GRCh38] Chr19:10290873 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001079861]|not provided [RCV000556631]|not specified [RCV000420016] |
Chr19:10180402 [GRCh38] Chr19:10291078 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.926+10T>G |
single nucleotide variant |
not provided [RCV000332710] |
Chr19:10163316 [GRCh38] Chr19:10273992 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000303859] |
Chr19:10154380 [GRCh38] Chr19:10265056 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2020-10C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649390]|not provided [RCV001705487] |
Chr19:10151857 [GRCh38] Chr19:10262533 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000354176] |
Chr19:10139688 [GRCh38] Chr19:10250364 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.385C>A (p.Pro129Thr) |
single nucleotide variant |
not provided [RCV000489739] |
Chr19:10180410 [GRCh38] Chr19:10291086 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002570697]|not provided [RCV001552625] |
Chr19:10142153 [GRCh38] Chr19:10252829 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1850G>A (p.Arg617Gln) |
single nucleotide variant |
not provided [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 provided [RCV000490029] |
Chr19:10180427 [GRCh38] Chr19:10291103 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3767A>G (p.Tyr1256Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002527032]|not provided [RCV000490070] |
Chr19:10140085 [GRCh38] Chr19:10250761 [GRCh37] Chr19:19p13.2 |
likely pathogenic|uncertain significance |
NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000694898]|not provided [RCV000488960] |
Chr19:10140785 [GRCh38] Chr19:10251461 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.*274T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002521179] |
Chr19:10182089 [GRCh38] Chr19:10292765 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.2(DNMT1):c.*323C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000278052] |
Chr19:10133344 [GRCh38] Chr19:10244020 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000312518] |
Chr19:10137921 [GRCh38] Chr19:10248597 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000312581] |
Chr19:10177361 [GRCh38] Chr19:10288037 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3196G>A (p.Val1066Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001410810]|Inborn genetic diseases [RCV002325125]|not provided [RCV000592659] |
Chr19:10142141 [GRCh38] Chr19:10252817 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000815334]|Inborn genetic diseases [RCV002456308]|not provided [RCV000597645] |
Chr19:10149652 [GRCh38] Chr19:10260328 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000703793]|not specified [RCV000414456] |
Chr19:10142105 [GRCh38] Chr19:10252781 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000806365]|not provided [RCV001559002]|not specified [RCV000414738] |
Chr19:10194844 [GRCh38] Chr19:10305520 [GRCh37] Chr19:19p13.2 |
uncertain significance|no classifications from unflagged records |
NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001413462]|not provided [RCV000735064] |
Chr19:10156476 [GRCh38] Chr19:10267152 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) |
single nucleotide variant |
Sleep abnormality [RCV000735392] |
Chr19:10141137 [GRCh38] Chr19:10251813 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser) |
single nucleotide variant |
Dyssynergia [RCV000415045]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001240588] |
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] |
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-deafness-dementia syndrome [RCV001418838] |
Chr19:10182084 [GRCh38] Chr19:10292760 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2950C>A (p.Leu984Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001337609]|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-deafness-dementia syndrome [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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002521631]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000877585]|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-deafness-dementia syndrome [RCV000649376]|not provided [RCV001703639] |
Chr19:10160054 [GRCh38] Chr19:10270730 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3807-14C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061644]|not provided [RCV001810906]|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-deafness-dementia syndrome [RCV000554992]|not provided [RCV001720097] |
Chr19:10142229 [GRCh38] Chr19:10252905 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1722G>A (p.Val574=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000870504]|not provided [RCV001753855] |
Chr19:10154696 [GRCh38] Chr19:10265372 [GRCh37] Chr19:19p13.2 |
benign|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001433215]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000876892]|not provided [RCV001704467] |
Chr19:10154302 [GRCh38] Chr19:10264978 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2913C>T (p.Pro971=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000939547]|not provided [RCV001720166] |
Chr19:10143969 [GRCh38] Chr19:10254645 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.117+19T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002058896]|not provided [RCV001727715]|not specified [RCV000421267] |
Chr19:10182022 [GRCh38] Chr19:10292698 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000544895]|not provided [RCV001712291] |
Chr19:10163327 [GRCh38] Chr19:10274003 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2382-15G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002065048]|not specified [RCV000418803] |
Chr19:10149672 [GRCh38] Chr19:10260348 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000873521]|not provided [RCV001698143] |
Chr19:10136178 [GRCh38] Chr19:10246854 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1131C>T (p.Asp377=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002064965]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002521674]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002522438]|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 |
DNMT1-related condition [RCV003392234]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000695923]|Inborn genetic diseases [RCV002436243]|not provided [RCV000427007] |
Chr19:10143968 [GRCh38] Chr19:10254644 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.1116C>T (p.Cys372=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002059657]|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-deafness-dementia syndrome [RCV000791920]|not provided [RCV000439839] |
Chr19:10138522 [GRCh38] Chr19:10249198 [GRCh37] Chr19:19p13.2 |
benign|likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4294-17C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061376]|not provided [RCV001810883]|not specified [RCV000436291] |
Chr19:10137297 [GRCh38] Chr19:10247973 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4294-19G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061375]|not provided [RCV001810882]|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-deafness-dementia syndrome [RCV000528743]|not provided [RCV001705567]|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-deafness-dementia syndrome [RCV000649368]|not provided [RCV001697843] |
Chr19:10154416 [GRCh38] Chr19:10265092 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1280+14C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061374]|not specified [RCV000444085] |
Chr19:10159644 [GRCh38] Chr19:10270320 [GRCh37] Chr19:19p13.2 |
benign|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-deafness-dementia syndrome [RCV000545042]|not provided [RCV001810901]|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 provided [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-deafness-dementia syndrome [RCV000552950]|not provided [RCV001720187] |
Chr19:10159732 [GRCh38] Chr19:10270408 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.4773+18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061377]|not specified [RCV000437429] |
Chr19:10135718 [GRCh38] Chr19:10246394 [GRCh37] Chr19:19p13.2 |
benign|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002525954]|Inborn genetic diseases [RCV003352891]|not provided [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 provided [RCV000481913] |
Chr19:10160049 [GRCh38] Chr19:10270725 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1080G>A (p.Met360Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001856874]|not provided [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]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002524939] |
Chr19:10146454 [GRCh38] Chr19:10257130 [GRCh37] Chr19:19p13.2 |
uncertain significance|not provided |
NM_001130823.3(DNMT1):c.4896C>G (p.Asp1632Glu) |
single nucleotide variant |
not provided [RCV003313691] |
Chr19:10133670 [GRCh38] Chr19:10244346 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001513298]|not provided [RCV000531964] |
Chr19:10140812 [GRCh38] Chr19:10251488 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1378G>C (p.Asp460His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000540967]|Inborn genetic diseases [RCV002341427]|not provided [RCV001092944] |
Chr19:10177341 [GRCh38] Chr19:10288017 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_001130823.3(DNMT1):c.1536G>A (p.Ala512=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000915552]|not provided [RCV001722570] |
Chr19:10155013 [GRCh38] Chr19:10265689 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001535746]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000538884]|Inborn genetic diseases [RCV002324032]|not provided [RCV001584318] |
Chr19:10142075 [GRCh38] Chr19:10252751 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance|not provided |
NM_001130823.3(DNMT1):c.2720+8C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001425240]|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-deafness-dementia syndrome [RCV000797299]|Inborn genetic diseases [RCV002368006]|not provided [RCV000597356] |
Chr19:10173124 [GRCh38] Chr19:10283800 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3310-18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002064365]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002532796]|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-deafness-dementia syndrome [RCV000527757]|not provided [RCV001697001] |
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-deafness-dementia syndrome [RCV000529445] |
Chr19:10173171 [GRCh38] Chr19:10283847 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1070A>G (p.Lys357Arg) |
single nucleotide variant |
not provided [RCV003314917] |
Chr19:10160037 [GRCh38] Chr19:10270713 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3831G>T (p.Arg1277=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000531743] |
Chr19:10139793 [GRCh38] Chr19:10250469 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3186C>T (p.Asp1062=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000873962]|not provided [RCV001718933] |
Chr19:10142151 [GRCh38] Chr19:10252827 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.4490-4C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001484715]|Inborn genetic diseases [RCV002331053]|not provided [RCV001697879] |
Chr19:10136291 [GRCh38] Chr19:10246967 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3524-16G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063196]|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-deafness-dementia syndrome [RCV000813215]|Inborn genetic diseases [RCV002460080]|not provided [RCV002225636] |
Chr19:10140184 [GRCh38] Chr19:10250860 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.4327C>A (p.His1443Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000649356] |
Chr19:10160041 [GRCh38] Chr19:10270717 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649357]|Inborn genetic diseases [RCV002334182]|not provided [RCV001592810] |
Chr19:10160043 [GRCh38] Chr19:10270719 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.737G>A (p.Arg246His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649358]|not provided [RCV001584496] |
Chr19:10173121 [GRCh38] Chr19:10283797 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2794G>A (p.Asp932Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649359]|Inborn genetic diseases [RCV002440348] |
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-deafness-dementia syndrome [RCV000649360]|Inborn genetic diseases [RCV002334183]|not provided [RCV001562443] |
Chr19:10140775 [GRCh38] Chr19:10251451 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.4427A>G (p.His1476Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000649362] |
Chr19:10180479 [GRCh38] Chr19:10291155 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002499108]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649363]|Inborn genetic diseases [RCV002358866] |
Chr19:10180413 [GRCh38] Chr19:10291089 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1645-10C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000649371]|not provided [RCV001613426] |
Chr19:10154467 [GRCh38] Chr19:10265143 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.493+7G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000649373]|not provided [RCV001555749] |
Chr19:10148937 [GRCh38] Chr19:10259613 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_001130823.3(DNMT1):c.1911C>T (p.Thr637=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001446087] |
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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV001127208]|not provided [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-deafness-dementia syndrome [RCV000649381]|not provided [RCV001554931] |
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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000649383]|not provided [RCV001592811] |
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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV001087755]|not provided [RCV000649385] |
Chr19:10156470 [GRCh38] Chr19:10267146 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3840C>G (p.Leu1280=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000649388] |
Chr19:10154597 [GRCh38] Chr19:10265273 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.683+16A>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063260]|not specified [RCV000602168] |
Chr19:10173855 [GRCh38] Chr19:10284531 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.3963C>T (p.Gly1321=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002529368]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002065359]|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 |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063153]|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-deafness-dementia syndrome [RCV000692423]|not provided [RCV000657954] |
Chr19:10166633 [GRCh38] Chr19:10277309 [GRCh37] Chr19:19p13.2 |
likely benign|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-deafness-dementia syndrome [RCV000685739] |
Chr19:10139715 [GRCh38] Chr19:10250391 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4181G>A (p.Arg1394Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000698993]|Inborn genetic diseases [RCV002360785] |
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-deafness-dementia syndrome [RCV000700835]|Inborn genetic diseases [RCV002440510]|not provided [RCV001531881]|not specified [RCV001815008] |
Chr19:10180494 [GRCh38] Chr19:10291170 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1393C>G (p.Leu465Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000699287] |
Chr19:10162737 [GRCh38] Chr19:10273413 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002493134]|Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000686192]|Inborn genetic diseases [RCV002388197]|not provided [RCV001756156] |
Chr19:10168330 [GRCh38] Chr19:10279006 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.63C>A (p.Pro21=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000706619] |
Chr19:10194837 [GRCh38] Chr19:10305513 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000692609]|Inborn genetic diseases [RCV002442450] |
Chr19:10180566 [GRCh38] Chr19:10291242 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002485629]|Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000695747]|Inborn genetic diseases [RCV002334316] |
Chr19:10177335 [GRCh38] Chr19:10288011 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1108A>C (p.Ile370Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000703179] |
Chr19:10180493 [GRCh38] Chr19:10291169 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.894_896del (p.Asp298del) |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000706160] |
Chr19:10151799 [GRCh38] Chr19:10262475 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002485677]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000694576]|Inborn genetic diseases [RCV002422518]|not provided [RCV001507409] |
Chr19:10166632 [GRCh38] Chr19:10277308 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001481828]|not specified [RCV001000312] |
Chr19:10136169 [GRCh38] Chr19:10246845 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.569+260C>G |
single nucleotide variant |
not provided [RCV001582275] |
Chr19:10177032 [GRCh38] Chr19:10287708 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2586+99G>T |
single nucleotide variant |
not provided [RCV001540884] |
Chr19:10149354 [GRCh38] Chr19:10260030 [GRCh37] Chr19:19p13.2 |
benign |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_001130823.3(DNMT1):c.4752C>T (p.Asn1584=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001424294] |
Chr19:10135757 [GRCh38] Chr19:10246433 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4816T>C (p.Leu1606=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001436818] |
Chr19:10134265 [GRCh38] Chr19:10244941 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3524-59dup |
duplication |
not provided [RCV001609481] |
Chr19:10140372..10140373 [GRCh38] Chr19:10251048..10251049 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.489T>G (p.Ile163Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002570831]|not provided [RCV001584737] |
Chr19:10180191 [GRCh38] Chr19:10290867 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4209C>T (p.Ser1403=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001464060] |
Chr19:10137916 [GRCh38] Chr19:10248592 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV003448393]|Spastic ataxia [RCV001647187] |
Chr19:10141188 [GRCh38] Chr19:10251864 [GRCh37] Chr19:19p13.2 |
likely pathogenic|uncertain significance |
NM_001130823.3(DNMT1):c.3816C>T (p.Asp1272=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000938296] |
Chr19:10139808 [GRCh38] Chr19:10250484 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4671C>T (p.His1557=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001495793] |
Chr19:10135838 [GRCh38] Chr19:10246514 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3948+239G>A |
single nucleotide variant |
not provided [RCV001547026] |
Chr19:10139437 [GRCh38] Chr19:10250113 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1008+27dup |
duplication |
not provided [RCV001725534] |
Chr19:10162620..10162621 [GRCh38] Chr19:10273296..10273297 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4774-94T>A |
single nucleotide variant |
not provided [RCV001725565] |
Chr19:10134401 [GRCh38] Chr19:10245077 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3310-114A>C |
single nucleotide variant |
not provided [RCV001577307] |
Chr19:10141303 [GRCh38] Chr19:10251979 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.901A>C (p.Lys301Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066190] |
Chr19:10163351 [GRCh38] Chr19:10274027 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4514C>G (p.Ala1505Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066349] |
Chr19:10136263 [GRCh38] Chr19:10246939 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4091A>G (p.Lys1364Arg) |
single nucleotide variant |
not provided [RCV000996735] |
Chr19:10138463 [GRCh38] Chr19:10249139 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.684-256dup |
duplication |
not provided [RCV001567843] |
Chr19:10173427..10173428 [GRCh38] Chr19:10284103..10284104 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4657-27C>G |
single nucleotide variant |
not provided [RCV001586250] |
Chr19:10135879 [GRCh38] Chr19:10246555 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4865-177C>T |
single nucleotide variant |
not provided [RCV001666738] |
Chr19:10133878 [GRCh38] Chr19:10244554 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2019+78CT[2] |
microsatellite |
not provided [RCV001681766] |
Chr19:10154210..10154211 [GRCh38] Chr19:10264886..10264887 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2706G>A (p.Glu902=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415736] |
Chr19:10148898 [GRCh38] Chr19:10259574 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1296C>T (p.His432=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001426633] |
Chr19:10156494 [GRCh38] Chr19:10267170 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3546C>T (p.Ala1182=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001468036] |
Chr19:10140306 [GRCh38] Chr19:10250982 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4722C>A (p.Gly1574=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001470617] |
Chr19:10135787 [GRCh38] Chr19:10246463 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2697G>A (p.Gln899=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000946136]|not provided [RCV001644864] |
Chr19:10148907 [GRCh38] Chr19:10259583 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2430C>T (p.Ala810=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001417973] |
Chr19:10149609 [GRCh38] Chr19:10260285 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1749C>T (p.Ala583=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001501305]|not provided [RCV000870644] |
Chr19:10154669 [GRCh38] Chr19:10265345 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2976C>T (p.Tyr992=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000915229] |
Chr19:10143906 [GRCh38] Chr19:10254582 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4785C>T (p.Ala1595=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000945457] |
Chr19:10134296 [GRCh38] Chr19:10244972 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1493-11_1493-9dup |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001497555] |
Chr19:10155064..10155065 [GRCh38] Chr19:10265740..10265741 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4839G>A (p.Leu1613=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503762] |
Chr19:10134242 [GRCh38] Chr19:10244918 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3069C>G (p.Gly1023=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001430566] |
Chr19:10143813 [GRCh38] Chr19:10254489 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000877726] |
Chr19:10166622 [GRCh38] Chr19:10277298 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_001130823.3(DNMT1):c.4170G>A (p.Leu1390=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002065682] |
Chr19:10137955 [GRCh38] Chr19:10248631 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1280+9A>T |
single nucleotide variant |
not provided [RCV000901788] |
Chr19:10159649 [GRCh38] Chr19:10270325 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3807-10C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001490540] |
Chr19:10139827 [GRCh38] Chr19:10250503 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000876706]|not provided [RCV001701461] |
Chr19:10138594 [GRCh38] Chr19:10249270 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3594C>T (p.Pro1198=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001475545] |
Chr19:10140258 [GRCh38] Chr19:10250934 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3021C>T (p.Tyr1007=) |
single nucleotide variant |
not provided [RCV000927794] |
Chr19:10143861 [GRCh38] Chr19:10254537 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4590T>C (p.Tyr1530=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001434568] |
Chr19:10136187 [GRCh38] Chr19:10246863 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4635C>T (p.Asn1545=) |
single nucleotide variant |
not provided [RCV000925398] |
Chr19:10136142 [GRCh38] Chr19:10246818 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4077G>C (p.Val1359=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000950948] |
Chr19:10138477 [GRCh38] Chr19:10249153 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3141T>C (p.Thr1047=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001487970] |
Chr19:10142196 [GRCh38] Chr19:10252872 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2117+9G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503153] |
Chr19:10151741 [GRCh38] Chr19:10262417 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3459C>T (p.Pro1153=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001487539] |
Chr19:10140845 [GRCh38] Chr19:10251521 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4657-7C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001464917] |
Chr19:10135859 [GRCh38] Chr19:10246535 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2649G>C (p.Leu883=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001441226] |
Chr19:10148955 [GRCh38] Chr19:10259631 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1777C>T (p.Leu593=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001427007] |
Chr19:10154641 [GRCh38] Chr19:10265317 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2251G>A (p.Gly751Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058092] |
Chr19:10151412 [GRCh38] Chr19:10262088 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002482025]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058160] |
Chr19:10162738 [GRCh38] Chr19:10273414 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1046C>T (p.Thr349Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001049391]|Inborn genetic diseases [RCV002379539] |
Chr19:10160061 [GRCh38] Chr19:10270737 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2645A>G (p.Gln882Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001041345] |
Chr19:10148959 [GRCh38] Chr19:10259635 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2090G>A (p.Arg697Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001047774] |
Chr19:10151777 [GRCh38] Chr19:10262453 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3813C>T (p.Cys1271=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058721]|not provided [RCV001699504] |
Chr19:10139811 [GRCh38] Chr19:10250487 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001035374]|not provided [RCV002067717] |
Chr19:10137952 [GRCh38] Chr19:10248628 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3013G>A (p.Glu1005Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001052291]|not provided [RCV001585951] |
Chr19:10143869 [GRCh38] Chr19:10254545 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.946G>A (p.Glu316Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001052304]|Inborn genetic diseases [RCV002374911] |
Chr19:10162729 [GRCh38] Chr19:10273405 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.5C>T (p.Pro2Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001039886] |
Chr19:10194895 [GRCh38] Chr19:10305571 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.413C>G (p.Pro138Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001054526] |
Chr19:10180382 [GRCh38] Chr19:10291058 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2894+136_2894+137del |
deletion |
not provided [RCV000835840] |
Chr19:10146214..10146215 [GRCh38] Chr19:10256890..10256891 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3576G>A (p.Ala1192=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000878385]|not provided [RCV003424429] |
Chr19:10140276 [GRCh38] Chr19:10250952 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.66C>T (p.Asp22=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000933007] |
Chr19:10194834 [GRCh38] Chr19:10305510 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4185T>C (p.Asn1395=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000980495] |
Chr19:10137940 [GRCh38] Chr19:10248616 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4491C>T (p.Ala1497=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002539978] |
Chr19:10136286 [GRCh38] Chr19:10246962 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4197A>C (p.Ala1399=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000943405] |
Chr19:10137928 [GRCh38] Chr19:10248604 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4659C>T (p.Gly1553=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001393596] |
Chr19:10135850 [GRCh38] Chr19:10246526 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.885C>T (p.Asp295=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000953809]|not provided [RCV003128731] |
Chr19:10166604 [GRCh38] Chr19:10277280 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-9dup |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001858597]|Inborn genetic diseases [RCV002354860]|not provided [RCV000966633] |
Chr19:10138609..10138610 [GRCh38] Chr19:10249285..10249286 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1281-8C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001426548] |
Chr19:10156517 [GRCh38] Chr19:10267193 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2700A>G (p.Pro900=) |
single nucleotide variant |
not provided [RCV000982726] |
Chr19:10148904 [GRCh38] Chr19:10259580 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1812T>C (p.Ala604=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001499688] |
Chr19:10154606 [GRCh38] Chr19:10265282 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002502933]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001410822] |
Chr19:10138555 [GRCh38] Chr19:10249231 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.694C>A (p.Pro232Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001459175]|Inborn genetic diseases [RCV002354787]|not provided [RCV000932090] |
Chr19:10173164 [GRCh38] Chr19:10283840 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1920C>T (p.Val640=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000880367] |
Chr19:10154392 [GRCh38] Chr19:10265068 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3098G>A (p.Arg1033Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000952054] |
Chr19:10143784 [GRCh38] Chr19:10254460 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4656+9G>A |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002495301]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000872963] |
Chr19:10136112 [GRCh38] Chr19:10246788 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.2385C>T (p.Val795=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001493135] |
Chr19:10149654 [GRCh38] Chr19:10260330 [GRCh37] 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-deafness-dementia syndrome [RCV000804401]|Inborn genetic diseases [RCV002336631]|not provided [RCV002261219] |
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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000810355]|Inborn genetic diseases [RCV002390631] |
Chr19:10155029 [GRCh38] Chr19:10265705 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001498370]|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-deafness-dementia syndrome [RCV000797054]|Inborn genetic diseases [RCV002325519] |
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-deafness-dementia syndrome [RCV000798506]|Inborn genetic diseases [RCV002386411]|not provided [RCV001811489] |
Chr19:10160384 [GRCh38] Chr19:10271060 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2888C>T (p.Thr963Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000814609] |
Chr19:10160041 [GRCh38] Chr19:10270717 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002507449]|Hereditary sensory neuropathy-deafness-dementia syndrome [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.3458_3466dup (p.Pro1153_Leu1155dup) |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001312272]|not provided [RCV000986202] |
Chr19:10140837..10140838 [GRCh38] Chr19:10251513..10251514 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1196A>G (p.Asn399Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447166] |
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]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002267741] |
Chr19:10154712 [GRCh38] Chr19:10265388 [GRCh37] Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|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-deafness-dementia syndrome [RCV000797165] |
Chr19:10141147 [GRCh38] Chr19:10251823 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1559AGA[1] (p.Lys521del) |
microsatellite |
Charcot-Marie-Tooth disease [RCV000789095]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447167] |
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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000798612] |
Chr19:10173166 [GRCh38] Chr19:10283842 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3394+34T>C |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001664449]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001664448]|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-deafness-dementia syndrome [RCV000795070] |
Chr19:10156396 [GRCh38] Chr19:10267072 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.891+1G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066632] |
Chr19:10166597 [GRCh38] Chr19:10277273 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3694G>A (p.Asp1232Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001045753] |
Chr19:10140158 [GRCh38] Chr19:10250834 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000791672]|Inborn genetic diseases [RCV002406723]|not provided [RCV003156291] |
Chr19:10154325 [GRCh38] Chr19:10265001 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.118-7C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [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-deafness-dementia syndrome [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-deafness-dementia syndrome [RCV000794377] |
Chr19:10143763 [GRCh38] Chr19:10254439 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2721-45C>T |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001664479]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001664478]|not provided [RCV000841155] |
Chr19:10146569 [GRCh38] Chr19:10257245 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1044-3del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001494019] |
Chr19:10160066 [GRCh38] Chr19:10270742 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000785085]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000785084] |
Chr19:10173904 [GRCh38] Chr19:10284580 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3807-4A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001399334] |
Chr19:10139821 [GRCh38] Chr19:10250497 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3223C>T (p.Arg1075Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000803853]|not provided [RCV003326496] |
Chr19:10142114 [GRCh38] Chr19:10252790 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1647C>T (p.Thr549=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000875406]|not provided [RCV001551625] |
Chr19:10154771 [GRCh38] Chr19:10265447 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2211GAA[5] (p.Lys741dup) |
microsatellite |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000814498] |
Chr19:10151440..10151441 [GRCh38] Chr19:10262116..10262117 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4372A>G (p.Ile1458Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001858843]|not provided [RCV000996734] |
Chr19:10137202 [GRCh38] Chr19:10247878 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3394+4C>T |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002489692]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001065728]|Inborn genetic diseases [RCV002555846] |
Chr19:10141101 [GRCh38] Chr19:10251777 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2433C>G (p.His811Gln) |
single nucleotide variant |
not provided [RCV000996736] |
Chr19:10149606 [GRCh38] Chr19:10260282 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4507C>T (p.Pro1503Ser) |
single nucleotide variant |
not provided [RCV000996733] |
Chr19:10136270 [GRCh38] Chr19:10246946 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126996]|not provided [RCV000996737] |
Chr19:10159747 [GRCh38] Chr19:10270423 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.374C>T (p.Ala125Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001067191] |
Chr19:10180421 [GRCh38] Chr19:10291097 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1492+1G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001064953] |
Chr19:10155852 [GRCh38] Chr19:10266528 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1170+3A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001247113] |
Chr19:10159839 [GRCh38] Chr19:10270515 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001219887] |
Chr19:10180798 [GRCh38] Chr19:10291474 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3432C>T (p.Ser1144=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001225708] |
Chr19:10140872 [GRCh38] Chr19:10251548 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4000G>A (p.Ala1334Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001220154]|not provided [RCV001288937] |
Chr19:10138554 [GRCh38] Chr19:10249230 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3032G>A (p.Arg1011Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001223758]|Inborn genetic diseases [RCV002436870] |
Chr19:10143850 [GRCh38] Chr19:10254526 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3929G>C (p.Cys1310Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224261] |
Chr19:10139695 [GRCh38] Chr19:10250371 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3536C>T (p.Thr1179Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001242856]|Inborn genetic diseases [RCV002451590]|not provided [RCV003145471] |
Chr19:10140316 [GRCh38] Chr19:10250992 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1678C>T (p.Arg560Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224893]|Inborn genetic diseases [RCV002402704]|not provided [RCV003129740] |
Chr19:10154740 [GRCh38] Chr19:10265416 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3595G>A (p.Gly1199Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001237929]|not provided [RCV001539913] |
Chr19:10140257 [GRCh38] Chr19:10250933 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4236C>G (p.Phe1412Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001235465]|not provided [RCV003322870] |
Chr19:10137889 [GRCh38] Chr19:10248565 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3785C>G (p.Ser1262Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001238465] |
Chr19:10140067 [GRCh38] Chr19:10250743 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3913C>T (p.Arg1305Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001238466] |
Chr19:10139711 [GRCh38] Chr19:10250387 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2627G>A (p.Gly876Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001241666] |
Chr19:10148977 [GRCh38] Chr19:10259653 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.662G>A (p.Arg221His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001221799] |
Chr19:10173892 [GRCh38] Chr19:10284568 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2686C>T (p.Pro896Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224715] |
Chr19:10148918 [GRCh38] Chr19:10259594 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000995755] |
Chr19:10137276 [GRCh38] Chr19:10247952 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001124340] |
Chr19:10154470 [GRCh38] Chr19:10265146 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127316]|Inborn genetic diseases [RCV002436715] |
Chr19:10143846 [GRCh38] Chr19:10254522 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001197061]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001859188] |
Chr19:10143962 [GRCh38] Chr19:10254638 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1534G>T (p.Ala512Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001043395]|Inborn genetic diseases [RCV002393216]|not provided [RCV001556142] |
Chr19:10155015 [GRCh38] Chr19:10265691 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123140] |
Chr19:10137961 [GRCh38] Chr19:10248637 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123343]|Inborn genetic diseases [RCV002436714] |
Chr19:10166603 [GRCh38] Chr19:10277279 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.*211G>C |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002480504]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126803] |
Chr19:10133456 [GRCh38] Chr19:10244132 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.151G>A (p.Glu51Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001247929]|not provided [RCV001507411] |
Chr19:10180852 [GRCh38] Chr19:10291528 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NC_000019.9:g.(?_10244343)_(10251024_?)dup |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003105485] |
Chr19:10244343..10251024 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2895-310T>A |
single nucleotide variant |
not provided [RCV001549685] |
Chr19:10144297 [GRCh38] Chr19:10254973 [GRCh37] Chr19:19p13.2 |
likely benign |
NC_000019.10:g.10195137C>T |
single nucleotide variant |
not provided [RCV001571498] |
Chr19:10195137 [GRCh38] Chr19:10305813 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3116+208G>A |
single nucleotide variant |
not provided [RCV001581453] |
Chr19:10143558 [GRCh38] Chr19:10254234 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4657-69C>G |
single nucleotide variant |
not provided [RCV001572294] |
Chr19:10135921 [GRCh38] Chr19:10246597 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1281-234C>T |
single nucleotide variant |
not provided [RCV001565530] |
Chr19:10156743 [GRCh38] Chr19:10267419 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.803+283G>A |
single nucleotide variant |
not provided [RCV001577569] |
Chr19:10168047 [GRCh38] Chr19:10278723 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.769-21T>G |
single nucleotide variant |
not provided [RCV001578005] |
Chr19:10168385 [GRCh38] Chr19:10279061 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1009-246C>A |
single nucleotide variant |
not provided [RCV001553359] |
Chr19:10160664 [GRCh38] Chr19:10271340 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4116-204C>T |
single nucleotide variant |
not provided [RCV001612372] |
Chr19:10138213 [GRCh38] Chr19:10248889 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2011G>A (p.Val671Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002568921]|Inborn genetic diseases [RCV002421180]|not provided [RCV001534782] |
Chr19:10154301 [GRCh38] Chr19:10264977 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.570-214G>A |
single nucleotide variant |
not provided [RCV001561496] |
Chr19:10175832 [GRCh38] Chr19:10286508 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4293+236T>G |
single nucleotide variant |
not provided [RCV001561729] |
Chr19:10137596 [GRCh38] Chr19:10248272 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1008+43_1008+46del |
deletion |
not provided [RCV001589530] |
Chr19:10162621..10162624 [GRCh38] Chr19:10273297..10273300 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.493+170T>C |
single nucleotide variant |
not provided [RCV001656029] |
Chr19:10180017 [GRCh38] Chr19:10290693 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1008+22C>T |
single nucleotide variant |
not provided [RCV001615754] |
Chr19:10162645 [GRCh38] Chr19:10273321 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.569+217A>G |
single nucleotide variant |
not provided [RCV001577703] |
Chr19:10177075 [GRCh38] Chr19:10287751 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1009-247G>A |
single nucleotide variant |
not provided [RCV001557659] |
Chr19:10160665 [GRCh38] Chr19:10271341 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2265+5C>A |
single nucleotide variant |
not provided [RCV001557840] |
Chr19:10151393 [GRCh38] Chr19:10262069 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+97C>A |
single nucleotide variant |
not provided [RCV001558170] |
Chr19:10135639 [GRCh38] Chr19:10246315 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.1281-38G>A |
single nucleotide variant |
not provided [RCV001563204] |
Chr19:10156547 [GRCh38] Chr19:10267223 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.81-148G>A |
single nucleotide variant |
not provided [RCV001650300] |
Chr19:10182225 [GRCh38] Chr19:10292901 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.984T>A (p.Ser328=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001434619] |
Chr19:10162691 [GRCh38] Chr19:10273367 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4032G>C (p.Pro1344=) |
single nucleotide variant |
not provided [RCV000910609] |
Chr19:10138522 [GRCh38] Chr19:10249198 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.494-10_494-8del |
microsatellite |
not provided [RCV000909924] |
Chr19:10177375..10177377 [GRCh38] Chr19:10288051..10288053 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4392C>T (p.Asp1464=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001416178] |
Chr19:10137182 [GRCh38] Chr19:10247858 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000878731]|not provided [RCV003424433] |
Chr19:10140183 [GRCh38] Chr19:10250859 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001130823.3(DNMT1):c.649-5C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000936412] |
Chr19:10173910 [GRCh38] Chr19:10284586 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1171-7C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127419] |
Chr19:10159774 [GRCh38] Chr19:10270450 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.1458T>C (p.Asp486=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001456397] |
Chr19:10155887 [GRCh38] Chr19:10266563 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.957A>G (p.Glu319=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001458283] |
Chr19:10162718 [GRCh38] Chr19:10273394 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.204A>G (p.Leu68=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001435438] |
Chr19:10180799 [GRCh38] Chr19:10291475 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.445+10G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000917828] |
Chr19:10180340 [GRCh38] Chr19:10291016 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1493-293dup |
duplication |
not provided [RCV001537376] |
Chr19:10155337..10155338 [GRCh38] Chr19:10266013..10266014 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126903]|not provided [RCV002274140] |
Chr19:10142043 [GRCh38] Chr19:10252719 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.548T>C (p.Ile183Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001226465] |
Chr19:10177313 [GRCh38] Chr19:10287989 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.*29G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127207] |
Chr19:10133638 [GRCh38] Chr19:10244314 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1096C>A (p.Pro366Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001222678] |
Chr19:10159916 [GRCh38] Chr19:10270592 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1400-4del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001227004] |
Chr19:10155949 [GRCh38] Chr19:10266625 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4414C>T (p.Arg1472Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001244852]|not provided [RCV003426012] |
Chr19:10137160 [GRCh38] Chr19:10247836 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.-26C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127545] |
Chr19:10194925 [GRCh38] Chr19:10305601 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1195A>G (p.Asn399Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001201943] |
Chr19:10159743 [GRCh38] Chr19:10270419 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4426C>A (p.His1476Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001232201] |
Chr19:10137148 [GRCh38] Chr19:10247824 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4493G>T (p.Gly1498Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001205623]|Inborn genetic diseases [RCV002327470] |
Chr19:10136284 [GRCh38] Chr19:10246960 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.97A>G (p.Arg33Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001236858] |
Chr19:10182061 [GRCh38] Chr19:10292737 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2471C>T (p.Thr824Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001243804]|Inborn genetic diseases [RCV002447206]|not specified [RCV003399004] |
Chr19:10149568 [GRCh38] Chr19:10260244 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2586G>A (p.Glu862=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066279] |
Chr19:10149453 [GRCh38] Chr19:10260129 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001124224] |
Chr19:10138480 [GRCh38] Chr19:10249156 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.470C>T (p.Ala157Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001209185] |
Chr19:10180210 [GRCh38] Chr19:10290886 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.229G>C (p.Gly77Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224274] |
Chr19:10180566 [GRCh38] Chr19:10291242 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224301] |
Chr19:10143785 [GRCh38] Chr19:10254461 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3085G>C (p.Asp1029His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001217528] |
Chr19:10143797 [GRCh38] Chr19:10254473 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001244005] |
Chr19:10159912 [GRCh38] Chr19:10270588 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.148C>T (p.His50Tyr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001068228] |
Chr19:10180855 [GRCh38] Chr19:10291531 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3365C>G (p.Pro1122Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001228144] |
Chr19:10141134 [GRCh38] Chr19:10251810 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.445C>T (p.Arg149Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001228148] |
Chr19:10180350 [GRCh38] Chr19:10291026 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.891+9G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001398810] |
Chr19:10166589 [GRCh38] Chr19:10277265 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.225+9G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000933751] |
Chr19:10180769 [GRCh38] Chr19:10291445 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2478C>T (p.Asp826=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002068681] |
Chr19:10149561 [GRCh38] Chr19:10260237 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3647C>G (p.Ala1216Gly) |
single nucleotide variant |
not provided [RCV000911747] |
Chr19:10140205 [GRCh38] Chr19:10250881 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2451A>G (p.Thr817=) |
single nucleotide variant |
not provided [RCV000933935] |
Chr19:10149588 [GRCh38] Chr19:10260264 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3261C>T (p.Cys1087=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000890869]|not provided [RCV001766791] |
Chr19:10142076 [GRCh38] Chr19:10252752 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2709C>T (p.Asp903=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000890870] |
Chr19:10148895 [GRCh38] Chr19:10259571 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4539C>T (p.Pro1513=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480519] |
Chr19:10136238 [GRCh38] Chr19:10246914 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002267743]|not provided [RCV000986203] |
Chr19:10154930 [GRCh38] Chr19:10265606 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic |
NM_001130823.3(DNMT1):c.3099G>A (p.Arg1033=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001438151] |
Chr19:10143783 [GRCh38] Chr19:10254459 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4056C>T (p.Pro1352=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000890714] |
Chr19:10138498 [GRCh38] Chr19:10249174 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-149G>A |
single nucleotide variant |
not provided [RCV001574748] |
Chr19:10138754 [GRCh38] Chr19:10249430 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2266-240A>G |
single nucleotide variant |
not provided [RCV001559475] |
Chr19:10150208 [GRCh38] Chr19:10260884 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.649-263T>G |
single nucleotide variant |
not provided [RCV001593990] |
Chr19:10174168 [GRCh38] Chr19:10284844 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.683+86G>A |
single nucleotide variant |
not provided [RCV001649242] |
Chr19:10173785 [GRCh38] Chr19:10284461 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.683+132T>C |
single nucleotide variant |
not provided [RCV001718117] |
Chr19:10173739 [GRCh38] Chr19:10284415 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4657-57C>T |
single nucleotide variant |
not provided [RCV001550648] |
Chr19:10135909 [GRCh38] Chr19:10246585 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.225+102TGA[9] |
microsatellite |
not provided [RCV001574329] |
Chr19:10180647..10180649 [GRCh38] Chr19:10291323..10291325 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2151C>T (p.Asp717=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003106736] |
Chr19:10151512 [GRCh38] Chr19:10262188 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1492+3_1492+6del |
deletion |
not specified [RCV002470012] |
Chr19:10155847..10155850 [GRCh38] Chr19:10266523..10266526 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.494-4A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002571421]|not provided [RCV002467353] |
Chr19:10177371 [GRCh38] Chr19:10288047 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2721-212A>G |
single nucleotide variant |
not provided [RCV001649933] |
Chr19:10146736 [GRCh38] Chr19:10257412 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.493+180del |
deletion |
not provided [RCV001530908] |
Chr19:10180007 [GRCh38] Chr19:10290683 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.684-82G>A |
single nucleotide variant |
not provided [RCV001620764] |
Chr19:10173256 [GRCh38] Chr19:10283932 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4293+238C>G |
single nucleotide variant |
not provided [RCV001717318] |
Chr19:10137594 [GRCh38] Chr19:10248270 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2586+122del |
deletion |
not provided [RCV001717319] |
Chr19:10149331 [GRCh38] Chr19:10260007 [GRCh37] Chr19:19p13.2 |
benign |
NC_000019.10:g.10195128dup |
duplication |
not provided [RCV001659643] |
Chr19:10195120..10195121 [GRCh38] Chr19:10305796..10305797 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.225+102TGA[11] |
microsatellite |
not provided [RCV001717552] |
Chr19:10180646..10180647 [GRCh38] Chr19:10291322..10291323 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.80+214C>T |
single nucleotide variant |
not provided [RCV001717586] |
Chr19:10194606 [GRCh38] Chr19:10305282 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3309+131C>T |
single nucleotide variant |
not provided [RCV001549505] |
Chr19:10141897 [GRCh38] Chr19:10252573 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4490-306C>T |
single nucleotide variant |
not provided [RCV001686647] |
Chr19:10136593 [GRCh38] Chr19:10247269 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1281-81G>T |
single nucleotide variant |
not provided [RCV001686429] |
Chr19:10156590 [GRCh38] Chr19:10267266 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2288A>T (p.Tyr763Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001245981] |
Chr19:10149946 [GRCh38] Chr19:10260622 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.*287T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126801] |
Chr19:10133380 [GRCh38] Chr19:10244056 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.*253G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126802] |
Chr19:10133414 [GRCh38] Chr19:10244090 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126902] |
Chr19:10140315 [GRCh38] Chr19:10250991 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3116+11G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127315] |
Chr19:10143755 [GRCh38] Chr19:10254431 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126901] |
Chr19:10140285 [GRCh38] Chr19:10250961 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127420]|not provided [RCV001311157] |
Chr19:10159863 [GRCh38] Chr19:10270539 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123344] |
Chr19:10173138 [GRCh38] Chr19:10283814 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.4849C>T (p.Arg1617Ter) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001228730] |
Chr19:10134232 [GRCh38] Chr19:10244908 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4864+112C>T |
single nucleotide variant |
not provided [RCV001669045] |
Chr19:10134105 [GRCh38] Chr19:10244781 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1009-47T>G |
single nucleotide variant |
not provided [RCV001611042] |
Chr19:10160465 [GRCh38] Chr19:10271141 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2152G>A (p.Asp718Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001035399] |
Chr19:10151511 [GRCh38] Chr19:10262187 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.81-271G>C |
single nucleotide variant |
not provided [RCV001616249] |
Chr19:10182348 [GRCh38] Chr19:10293024 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4636C>T (p.Pro1546Ser) |
single nucleotide variant |
Spastic ataxia [RCV001647249] |
Chr19:10136141 [GRCh38] Chr19:10246817 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_001130823.3(DNMT1):c.1009-217G>A |
single nucleotide variant |
not provided [RCV001564812] |
Chr19:10160635 [GRCh38] Chr19:10271311 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2118-26_2118-21del |
deletion |
not provided [RCV001539118] |
Chr19:10151566..10151571 [GRCh38] Chr19:10262242..10262247 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3117-182G>C |
single nucleotide variant |
not provided [RCV001566293] |
Chr19:10142402 [GRCh38] Chr19:10253078 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.768+238TATTT[5] |
microsatellite |
not provided [RCV001588183] |
Chr19:10172832..10172833 [GRCh38] Chr19:10283508..10283509 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3948+220G>A |
single nucleotide variant |
not provided [RCV001547326] |
Chr19:10139456 [GRCh38] Chr19:10250132 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.493+180C>T |
single nucleotide variant |
not provided [RCV001612843] |
Chr19:10180007 [GRCh38] Chr19:10290683 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.225+102TGA[12] |
microsatellite |
not provided [RCV001725593] |
Chr19:10180646..10180647 [GRCh38] Chr19:10291322..10291323 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.648+29_648+30del |
microsatellite |
not provided [RCV001547919] |
Chr19:10175510..10175511 [GRCh38] Chr19:10286186..10286187 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.357A>C (p.Arg119Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001056097]|Inborn genetic diseases [RCV002460128]|not provided [RCV003145309] |
Chr19:10180438 [GRCh38] Chr19:10291114 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1063C>T (p.Arg355Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001206546] |
Chr19:10160044 [GRCh38] Chr19:10270720 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2309C>T (p.Ala770Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001204127] |
Chr19:10149925 [GRCh38] Chr19:10260601 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3277A>T (p.Met1093Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001220378] |
Chr19:10142060 [GRCh38] Chr19:10252736 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.410C>G (p.Thr137Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001220382]|Inborn genetic diseases [RCV002322064] |
Chr19:10180385 [GRCh38] Chr19:10291061 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.614C>G (p.Ser205Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001057101] |
Chr19:10175574 [GRCh38] Chr19:10286250 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3067G>A (p.Gly1023Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001206542] |
Chr19:10143815 [GRCh38] Chr19:10254491 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123236] |
Chr19:10151767 [GRCh38] Chr19:10262443 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001208186]|Inborn genetic diseases [RCV002416287]|not specified [RCV001000335] |
Chr19:10151775 [GRCh38] Chr19:10262451 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1051A>C (p.Lys351Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001236007] |
Chr19:10160056 [GRCh38] Chr19:10270732 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.206G>T (p.Arg69Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058476] |
Chr19:10180797 [GRCh38] Chr19:10291473 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.355A>G (p.Arg119Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001214584]|Inborn genetic diseases [RCV002339561]|not specified [RCV001815026] |
Chr19:10180440 [GRCh38] Chr19:10291116 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3146C>T (p.Ala1049Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001248092] |
Chr19:10142191 [GRCh38] Chr19:10252867 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4424A>G (p.His1475Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058951] |
Chr19:10137150 [GRCh38] Chr19:10247826 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3937G>A (p.Gly1313Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001202246] |
Chr19:10139687 [GRCh38] Chr19:10250363 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.163A>G (p.Thr55Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001230908] |
Chr19:10180840 [GRCh38] Chr19:10291516 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3184G>C (p.Asp1062His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001215432] |
Chr19:10142153 [GRCh38] Chr19:10252829 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1156C>T (p.His386Tyr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001219553] |
Chr19:10159856 [GRCh38] Chr19:10270532 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3278T>C (p.Met1093Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001202334] |
Chr19:10142059 [GRCh38] Chr19:10252735 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3659C>T (p.Thr1220Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001202786]|Inborn genetic diseases [RCV002451418] |
Chr19:10140193 [GRCh38] Chr19:10250869 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1399+6G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001053977] |
Chr19:10156385 [GRCh38] Chr19:10267061 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1750G>A (p.Gly584Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001049584] |
Chr19:10154668 [GRCh38] Chr19:10265344 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.*34A>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127206] |
Chr19:10133633 [GRCh38] Chr19:10244309 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3117-4G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127314]|Inborn genetic diseases [RCV002445392] |
Chr19:10142224 [GRCh38] Chr19:10252900 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001124225]|Inborn genetic diseases [RCV002339411] |
Chr19:10140272 [GRCh38] Chr19:10250948 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1492+6T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001055532] |
Chr19:10155847 [GRCh38] Chr19:10266523 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002497425]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001055539] |
Chr19:10142170 [GRCh38] Chr19:10252846 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3210G>A (p.Lys1070=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001051446] |
Chr19:10142127 [GRCh38] Chr19:10252803 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001407768]|not specified [RCV001002627] |
Chr19:10140848 [GRCh38] Chr19:10251524 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.637_639del (p.Asp213del) |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001233705] |
Chr19:10175549..10175551 [GRCh38] Chr19:10286225..10286227 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3534C>A (p.Asp1178Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001052177] |
Chr19:10140318 [GRCh38] Chr19:10250994 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3714C>T (p.Gly1238=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001062925] |
Chr19:10140138 [GRCh38] Chr19:10250814 [GRCh37] Chr19:19p13.2 |
benign|uncertain significance |
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002479346]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001056754]|not provided [RCV001593228] |
Chr19:10166634 [GRCh38] Chr19:10277310 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001197857] |
Chr19:10143840 [GRCh38] Chr19:10254516 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1708G>A (p.Ala570Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001063462] |
Chr19:10154710 [GRCh38] Chr19:10265386 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001254069] |
Chr19:10154595 [GRCh38] Chr19:10265271 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_001130823.3(DNMT1):c.3524-45del |
deletion |
not provided [RCV001641970] |
Chr19:10140373 [GRCh38] Chr19:10251049 [GRCh37] Chr19:19p13.2 |
benign |
NC_000019.10:g.10195126_10195128dup |
duplication |
not provided [RCV001580857] |
Chr19:10195120..10195121 [GRCh38] Chr19:10305796..10305797 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1028C>T (p.Thr343Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001302469] |
Chr19:10160399 [GRCh38] Chr19:10271075 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4630A>G (p.Thr1544Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001303819] |
Chr19:10136147 [GRCh38] Chr19:10246823 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.569+131G>A |
single nucleotide variant |
not provided [RCV001765987] |
Chr19:10177161 [GRCh38] Chr19:10287837 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2858A>G (p.Asp953Gly) |
single nucleotide variant |
Pituitary stalk interruption syndrome [RCV001257292] |
Chr19:10146387 [GRCh38] Chr19:10257063 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_001130823.3(DNMT1):c.929C>T (p.Ala310Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001319540] |
Chr19:10162746 [GRCh38] Chr19:10273422 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4402G>T (p.Ala1468Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001307012] |
Chr19:10137172 [GRCh38] Chr19:10247848 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3395G>C (p.Gly1132Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001295397] |
Chr19:10140909 [GRCh38] Chr19:10251585 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4393G>A (p.Gly1465Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001871639]|not provided [RCV001281565] |
Chr19:10137181 [GRCh38] Chr19:10247857 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3166A>T (p.Asn1056Tyr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001302021] |
Chr19:10142171 [GRCh38] Chr19:10252847 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.445C>A (p.Arg149Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001315430]|Inborn genetic diseases [RCV003365323] |
Chr19:10180350 [GRCh38] Chr19:10291026 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.487A>G (p.Ile163Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001318462] |
Chr19:10180193 [GRCh38] Chr19:10290869 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.794C>T (p.Thr265Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001348991] |
Chr19:10168339 [GRCh38] Chr19:10279015 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2801A>G (p.Asp934Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001319271] |
Chr19:10146444 [GRCh38] Chr19:10257120 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2261T>G (p.Val754Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001325233] |
Chr19:10151402 [GRCh38] Chr19:10262078 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3117-5C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001432982]|Inborn genetic diseases [RCV002449172] |
Chr19:10142225 [GRCh38] Chr19:10252901 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.873C>T (p.Asp291=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001413209] |
Chr19:10166616 [GRCh38] Chr19:10277292 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.684-5G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001395395] |
Chr19:10173179 [GRCh38] Chr19:10283855 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1230T>C (p.Ser410=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001433451] |
Chr19:10159708 [GRCh38] Chr19:10270384 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1703G>A (p.Arg568Gln) |
single nucleotide variant |
not provided [RCV001354588] |
Chr19:10154715 [GRCh38] Chr19:10265391 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3888G>A (p.Leu1296=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001421344] |
Chr19:10139736 [GRCh38] Chr19:10250412 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1090-9C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001413503] |
Chr19:10159931 [GRCh38] Chr19:10270607 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4857T>G (p.Ser1619Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001370254] |
Chr19:10134224 [GRCh38] Chr19:10244900 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.172A>C (p.Lys58Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001371406] |
Chr19:10180831 [GRCh38] Chr19:10291507 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2950C>G (p.Leu984Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001360618] |
Chr19:10143932 [GRCh38] Chr19:10254608 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3358C>T (p.Arg1120Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001313235] |
Chr19:10141141 [GRCh38] Chr19:10251817 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4208_4210del (p.Ser1403del) |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001321410] |
Chr19:10137915..10137917 [GRCh38] Chr19:10248591..10248593 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4184A>G (p.Asn1395Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001346402] |
Chr19:10137941 [GRCh38] Chr19:10248617 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.980T>A (p.Ile327Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001373543] |
Chr19:10162695 [GRCh38] Chr19:10273371 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4733C>G (p.Thr1578Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001312262] |
Chr19:10135776 [GRCh38] Chr19:10246452 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.762T>A (p.Asp254Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001323846] |
Chr19:10173096 [GRCh38] Chr19:10283772 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1280G>A (p.Ser427Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001312390] |
Chr19:10159658 [GRCh38] Chr19:10270334 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001336230]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002546769] |
Chr19:10136285 [GRCh38] Chr19:10246961 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3677G>A (p.Arg1226Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001323078]|Inborn genetic diseases [RCV002460144] |
Chr19:10140175 [GRCh38] Chr19:10250851 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.175A>G (p.Asn59Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001346906] |
Chr19:10180828 [GRCh38] Chr19:10291504 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1757G>C (p.Ser586Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001349527] |
Chr19:10154661 [GRCh38] Chr19:10265337 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4112C>A (p.Thr1371Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001341304] |
Chr19:10138442 [GRCh38] Chr19:10249118 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.997G>A (p.Glu333Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001322444]|not provided [RCV003106192] |
Chr19:10162678 [GRCh38] Chr19:10273354 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3452A>G (p.Lys1151Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001345367] |
Chr19:10140852 [GRCh38] Chr19:10251528 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3207C>G (p.Phe1069Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001345514] |
Chr19:10142130 [GRCh38] Chr19:10252806 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4460C>T (p.Ala1487Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001306207] |
Chr19:10137114 [GRCh38] Chr19:10247790 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.353G>T (p.Arg118Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001323725] |
Chr19:10180442 [GRCh38] Chr19:10291118 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1399+5G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001363950] |
Chr19:10156386 [GRCh38] Chr19:10267062 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002493577]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001299216] |
Chr19:10163342 [GRCh38] Chr19:10274018 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002476693]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001370813]|Inborn genetic diseases [RCV002377550] |
Chr19:10162667 [GRCh38] Chr19:10273343 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4061C>T (p.Ala1354Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001366226]|Inborn genetic diseases [RCV002377537] |
Chr19:10138493 [GRCh38] Chr19:10249169 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.3755A>G (p.Asn1252Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001299757] |
Chr19:10140097 [GRCh38] Chr19:10250773 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3428C>T (p.Pro1143Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001325099] |
Chr19:10140876 [GRCh38] Chr19:10251552 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1167C>T (p.Asp389=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001394846]|not provided [RCV003426067] |
Chr19:10159845 [GRCh38] Chr19:10270521 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3056A>G (p.Lys1019Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001307037] |
Chr19:10143826 [GRCh38] Chr19:10254502 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.743A>G (p.Glu248Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001360663] |
Chr19:10173115 [GRCh38] Chr19:10283791 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4045G>A (p.Val1349Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001371863]|Inborn genetic diseases [RCV002377554] |
Chr19:10138509 [GRCh38] Chr19:10249185 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3395-7C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001372144] |
Chr19:10140916 [GRCh38] Chr19:10251592 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.769-4T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001308303]|Inborn genetic diseases [RCV002375387] |
Chr19:10168368 [GRCh38] Chr19:10279044 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.332A>G (p.Asn111Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001370589] |
Chr19:10180463 [GRCh38] Chr19:10291139 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4272C>A (p.Ile1424=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001394002] |
Chr19:10137853 [GRCh38] Chr19:10248529 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.768+7C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001475068] |
Chr19:10173083 [GRCh38] Chr19:10283759 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2481T>C (p.Pro827=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001450824] |
Chr19:10149558 [GRCh38] Chr19:10260234 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1281-4C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001506076] |
Chr19:10156513 [GRCh38] Chr19:10267189 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1527C>T (p.Pro509=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001484378] |
Chr19:10155022 [GRCh38] Chr19:10265698 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4490-1G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001385365] |
Chr19:10136288 [GRCh38] Chr19:10246964 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001130823.3(DNMT1):c.3523+10C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001425571] |
Chr19:10140771 [GRCh38] Chr19:10251447 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2922C>G (p.Arg974=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001502580] |
Chr19:10143960 [GRCh38] Chr19:10254636 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3138C>T (p.Ser1046=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001491211] |
Chr19:10142199 [GRCh38] Chr19:10252875 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1617C>T (p.Thr539=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001439675] |
Chr19:10154932 [GRCh38] Chr19:10265608 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2601C>T (p.Pro867=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001470085]|not provided [RCV001597277] |
Chr19:10149003 [GRCh38] Chr19:10259679 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.219A>G (p.Leu73=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415870] |
Chr19:10180784 [GRCh38] Chr19:10291460 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4089C>T (p.Asp1363=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001463400] |
Chr19:10138465 [GRCh38] Chr19:10249141 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2427C>T (p.His809=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001501485] |
Chr19:10149612 [GRCh38] Chr19:10260288 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1512G>T (p.Leu504=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001456251] |
Chr19:10155037 [GRCh38] Chr19:10265713 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1089+7A>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001464211] |
Chr19:10160011 [GRCh38] Chr19:10270687 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2193C>T (p.Pro731=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001470906] |
Chr19:10151470 [GRCh38] Chr19:10262146 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.702T>C (p.Pro234=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001493466] |
Chr19:10173156 [GRCh38] Chr19:10283832 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1473C>T (p.Ala491=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001435095] |
Chr19:10155872 [GRCh38] Chr19:10266548 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3285C>A (p.Gly1095=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001493695] |
Chr19:10142052 [GRCh38] Chr19:10252728 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2832G>A (p.Lys944=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001502078] |
Chr19:10146413 [GRCh38] Chr19:10257089 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1272C>A (p.Thr424=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001435248] |
Chr19:10159666 [GRCh38] Chr19:10270342 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1170+10G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001412149] |
Chr19:10159832 [GRCh38] Chr19:10270508 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2250C>T (p.Val750=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001443947] |
Chr19:10151413 [GRCh38] Chr19:10262089 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2736T>C (p.Cys912=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001441426] |
Chr19:10146509 [GRCh38] Chr19:10257185 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4044C>T (p.His1348=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001399362] |
Chr19:10138510 [GRCh38] Chr19:10249186 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1400-7G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001428969] |
Chr19:10155952 [GRCh38] Chr19:10266628 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2568C>T (p.Ser856=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001438998] |
Chr19:10149471 [GRCh38] Chr19:10260147 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.226-4G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001444216] |
Chr19:10180573 [GRCh38] Chr19:10291249 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3282C>T (p.Gly1094=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001439904] |
Chr19:10142055 [GRCh38] Chr19:10252731 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.226-6C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415750] |
Chr19:10180575 [GRCh38] Chr19:10291251 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4557C>T (p.Thr1519=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001418922] |
Chr19:10136220 [GRCh38] Chr19:10246896 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2298G>T (p.Val766=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001410564] |
Chr19:10149936 [GRCh38] Chr19:10260612 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4779C>A (p.Gly1593=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001401448] |
Chr19:10134302 [GRCh38] Chr19:10244978 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4695C>T (p.Ser1565=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001437785] |
Chr19:10135814 [GRCh38] Chr19:10246490 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1619A>C (p.Tyr540Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001378601] |
Chr19:10154930 [GRCh38] Chr19:10265606 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_001130823.3(DNMT1):c.1644+10C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001431815] |
Chr19:10154895 [GRCh38] Chr19:10265571 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2205C>T (p.His735=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001442659] |
Chr19:10151458 [GRCh38] Chr19:10262134 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2388G>A (p.Thr796=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001411263] |
Chr19:10149651 [GRCh38] Chr19:10260327 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3147G>A (p.Ala1049=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001440446] |
Chr19:10142190 [GRCh38] Chr19:10252866 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1614G>A (p.Ser538=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001445826] |
Chr19:10154935 [GRCh38] Chr19:10265611 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002495582]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001426035]|not provided [RCV002264311] |
Chr19:10140141 [GRCh38] Chr19:10250817 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2445T>C (p.Ala815=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001402008] |
Chr19:10149594 [GRCh38] Chr19:10260270 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4692G>T (p.Val1564=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001481879] |
Chr19:10135817 [GRCh38] Chr19:10246493 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1530G>A (p.Glu510=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001481880] |
Chr19:10155019 [GRCh38] Chr19:10265695 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1008+44_1008+46del |
deletion |
not provided [RCV001541174] |
Chr19:10162621..10162623 [GRCh38] Chr19:10273297..10273299 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.27G>A (p.Arg9=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001490495] |
Chr19:10194873 [GRCh38] Chr19:10305549 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002488445]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002538540]|not provided [RCV001653092] |
Chr19:10142180 [GRCh38] Chr19:10252856 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1272C>T (p.Thr424=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001499500] |
Chr19:10159666 [GRCh38] Chr19:10270342 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3738C>T (p.Ser1246=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001462133] |
Chr19:10140114 [GRCh38] Chr19:10250790 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.333C>T (p.Asn111=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001461971] |
Chr19:10180462 [GRCh38] Chr19:10291138 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1008+18C>T |
single nucleotide variant |
not provided [RCV001684677] |
Chr19:10162649 [GRCh38] Chr19:10273325 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1399+56G>T |
single nucleotide variant |
not provided [RCV001655471] |
Chr19:10156335 [GRCh38] Chr19:10267011 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1281-67C>A |
single nucleotide variant |
not provided [RCV001717316] |
Chr19:10156576 [GRCh38] Chr19:10267252 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3657C>T (p.Thr1219=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001486687] |
Chr19:10140195 [GRCh38] Chr19:10250871 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1329C>T (p.Ile443=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001474140] |
Chr19:10156461 [GRCh38] Chr19:10267137 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.927-217del |
deletion |
not provided [RCV001653333] |
Chr19:10162965 [GRCh38] Chr19:10273641 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4761C>T (p.Asp1587=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503572] |
Chr19:10135748 [GRCh38] Chr19:10246424 [GRCh37] Chr19:19p13.2 |
likely benign |
NC_000019.10:g.10195127_10195128dup |
duplication |
not provided [RCV001587598] |
Chr19:10195120..10195121 [GRCh38] Chr19:10305796..10305797 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2266-225A>G |
single nucleotide variant |
not provided [RCV001687640] |
Chr19:10150193 [GRCh38] Chr19:10260869 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1008+45_1008+46del |
deletion |
not provided [RCV001715620] |
Chr19:10162621..10162622 [GRCh38] Chr19:10273297..10273298 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1492+243A>C |
single nucleotide variant |
not provided [RCV001585205] |
Chr19:10155610 [GRCh38] Chr19:10266286 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1320C>G (p.Thr440=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001500858] |
Chr19:10156470 [GRCh38] Chr19:10267146 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4656+111_4656+112dup |
duplication |
not provided [RCV001592629] |
Chr19:10136008..10136009 [GRCh38] Chr19:10246684..10246685 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2020-128G>A |
single nucleotide variant |
not provided [RCV001674889] |
Chr19:10151975 [GRCh38] Chr19:10262651 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1043+26G>C |
single nucleotide variant |
not provided [RCV001654216] |
Chr19:10160358 [GRCh38] Chr19:10271034 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1493-5C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480857] |
Chr19:10155061 [GRCh38] Chr19:10265737 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1008+46del |
deletion |
not provided [RCV001612083] |
Chr19:10162621 [GRCh38] Chr19:10273297 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.927-196G>A |
single nucleotide variant |
not provided [RCV001590260] |
Chr19:10162944 [GRCh38] Chr19:10273620 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4490-297G>A |
single nucleotide variant |
not provided [RCV001583261] |
Chr19:10136584 [GRCh38] Chr19:10247260 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2790C>T (p.Leu930=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001471931] |
Chr19:10146455 [GRCh38] Chr19:10257131 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.615G>A (p.Ser205=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001453605] |
Chr19:10175573 [GRCh38] Chr19:10286249 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3231C>T (p.Thr1077=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001463939] |
Chr19:10142106 [GRCh38] Chr19:10252782 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.493+196del |
deletion |
not provided [RCV001686075] |
Chr19:10179991 [GRCh38] Chr19:10290667 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2166T>C (p.Asp722=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001498628] |
Chr19:10151497 [GRCh38] Chr19:10262173 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2118-7A>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001497741] |
Chr19:10151552 [GRCh38] Chr19:10262228 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.222C>T (p.Ser74=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001482929] |
Chr19:10180781 [GRCh38] Chr19:10291457 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1743C>T (p.Asp581=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480118] |
Chr19:10154675 [GRCh38] Chr19:10265351 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4779C>G (p.Gly1593=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001467411] |
Chr19:10134302 [GRCh38] Chr19:10244978 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4404C>G (p.Ala1468=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001478212] |
Chr19:10137170 [GRCh38] Chr19:10247846 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1815G>T (p.Gly605=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001461715] |
Chr19:10154603 [GRCh38] Chr19:10265279 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4302T>C (p.Ser1434=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001423329] |
Chr19:10137272 [GRCh38] Chr19:10247948 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3183C>T (p.Ser1061=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001423442] |
Chr19:10142154 [GRCh38] Chr19:10252830 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1479C>T (p.Ile493=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001459514] |
Chr19:10155866 [GRCh38] Chr19:10266542 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1935T>C (p.Asp645=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415865]|not provided [RCV001810733] |
Chr19:10154377 [GRCh38] Chr19:10265053 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2049T>C (p.Cys683=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001461506] |
Chr19:10151818 [GRCh38] Chr19:10262494 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3870C>T (p.Phe1290=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001398268] |
Chr19:10139754 [GRCh38] Chr19:10250430 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1941C>T (p.Phe647=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503915] |
Chr19:10154371 [GRCh38] Chr19:10265047 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1833-5C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001437191]|Inborn genetic diseases [RCV002405026] |
Chr19:10154484 [GRCh38] Chr19:10265160 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001418331]|not provided [RCV001810734] |
Chr19:10135763 [GRCh38] Chr19:10246439 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.282C>T (p.Asn94=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001505536] |
Chr19:10180513 [GRCh38] Chr19:10291189 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1875G>A (p.Arg625=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001438579] |
Chr19:10154437 [GRCh38] Chr19:10265113 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2622C>T (p.Asp874=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001424200]|not provided [RCV001587405] |
Chr19:10148982 [GRCh38] Chr19:10259658 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4260G>A (p.Gln1420=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001437530] |
Chr19:10137865 [GRCh38] Chr19:10248541 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3489C>A (p.Gly1163=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001488854] |
Chr19:10140815 [GRCh38] Chr19:10251491 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1065C>T (p.Arg355=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480976] |
Chr19:10160042 [GRCh38] Chr19:10270718 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4215C>T (p.Asn1405=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001416814] |
Chr19:10137910 [GRCh38] Chr19:10248586 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002249028] |
Chr19:10136136 [GRCh38] Chr19:10246812 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NC_000019.9:g.(?_10244343)_(10245003_?)dup |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003105487] |
Chr19:10244343..10245003 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2630A>G (p.Lys877Arg) |
single nucleotide variant |
not provided [RCV001769314] |
Chr19:10148974 [GRCh38] Chr19:10259650 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4510G>A (p.Ala1504Thr) |
single nucleotide variant |
not provided [RCV001772853] |
Chr19:10136267 [GRCh38] Chr19:10246943 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.430G>A (p.Asp144Asn) |
single nucleotide variant |
not provided [RCV001754437] |
Chr19:10180365 [GRCh38] Chr19:10291041 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.726A>C (p.Lys242Asn) |
single nucleotide variant |
not provided [RCV001765654] |
Chr19:10173132 [GRCh38] Chr19:10283808 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4891A>G (p.Lys1631Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002541236]|not provided [RCV001786104] |
Chr19:10133675 [GRCh38] Chr19:10244351 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3656C>T (p.Thr1219Ile) |
single nucleotide variant |
not provided [RCV001773958] |
Chr19:10140196 [GRCh38] Chr19:10250872 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1972G>C (p.Glu658Gln) |
single nucleotide variant |
not provided [RCV001774129] |
Chr19:10154340 [GRCh38] Chr19:10265016 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3139A>G (p.Thr1047Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002544102]|not provided [RCV001752663] |
Chr19:10142198 [GRCh38] Chr19:10252874 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002496089]|not provided [RCV001770626] |
Chr19:10166630 [GRCh38] Chr19:10277306 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3343C>G (p.Pro1115Ala) |
single nucleotide variant |
not provided [RCV001769092] |
Chr19:10141156 [GRCh38] Chr19:10251832 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2851G>A (p.Val951Ile) |
single nucleotide variant |
not provided [RCV001771409] |
Chr19:10146394 [GRCh38] Chr19:10257070 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3209A>G (p.Lys1070Arg) |
single nucleotide variant |
not provided [RCV001800115] |
Chr19:10142128 [GRCh38] Chr19:10252804 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1613C>T (p.Ser538Leu) |
single nucleotide variant |
not provided [RCV001763248] |
Chr19:10154936 [GRCh38] Chr19:10265612 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3509G>T (p.Gly1170Val) |
single nucleotide variant |
not provided [RCV001758118] |
Chr19:10140795 [GRCh38] Chr19:10251471 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.223G>A (p.Glu75Lys) |
single nucleotide variant |
not provided [RCV001797484] |
Chr19:10180780 [GRCh38] Chr19:10291456 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.856G>C (p.Val286Leu) |
single nucleotide variant |
not provided [RCV001797543] |
Chr19:10166633 [GRCh38] Chr19:10277309 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1931T>G (p.Phe644Cys) |
single nucleotide variant |
not provided [RCV001756974] |
Chr19:10154381 [GRCh38] Chr19:10265057 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.570-7G>A |
single nucleotide variant |
not provided [RCV001754202] |
Chr19:10175625 [GRCh38] Chr19:10286301 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4459G>A (p.Ala1487Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001809001] |
Chr19:10137115 [GRCh38] Chr19:10247791 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.80+5G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001930067] |
Chr19:10194815 [GRCh38] Chr19:10305491 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3806G>A (p.Ser1269Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002005466] |
Chr19:10140046 [GRCh38] Chr19:10250722 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2164G>T (p.Asp722Tyr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002006204] |
Chr19:10151499 [GRCh38] Chr19:10262175 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2949C>A (p.Asp983Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002022882] |
Chr19:10143933 [GRCh38] Chr19:10254609 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4121G>T (p.Ser1374Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002024429] |
Chr19:10138004 [GRCh38] Chr19:10248680 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.80+18G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001950130] |
Chr19:10194802 [GRCh38] Chr19:10305478 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3394+13A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001970456] |
Chr19:10141092 [GRCh38] Chr19:10251768 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2406C>A (p.Ser802Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001949754] |
Chr19:10149633 [GRCh38] Chr19:10260309 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1163C>A (p.Pro388Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002024967] |
Chr19:10159849 [GRCh38] Chr19:10270525 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.446-2A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001889817] |
Chr19:10180236 [GRCh38] Chr19:10290912 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4773+20C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001983367] |
Chr19:10135716 [GRCh38] Chr19:10246392 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2606C>G (p.Ser869Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001911092]|Inborn genetic diseases [RCV002440981] |
Chr19:10148998 [GRCh38] Chr19:10259674 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2849G>A (p.Arg950Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001891687] |
Chr19:10146396 [GRCh38] Chr19:10257072 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.317G>A (p.Arg106His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001910372] |
Chr19:10180478 [GRCh38] Chr19:10291154 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4000G>T (p.Ala1334Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001913895] |
Chr19:10138554 [GRCh38] Chr19:10249230 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3523+3G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001911627] |
Chr19:10140778 [GRCh38] Chr19:10251454 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.625A>C (p.Ile209Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002007907] |
Chr19:10175563 [GRCh38] Chr19:10286239 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2443G>A (p.Ala815Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002024626] |
Chr19:10149596 [GRCh38] Chr19:10260272 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 |
copy number gain |
not provided [RCV001834267] |
Chr19:9941033..11739567 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1945G>A (p.Ala649Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002008002] |
Chr19:10154367 [GRCh38] Chr19:10265043 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2911C>A (p.Pro971Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001890052] |
Chr19:10143971 [GRCh38] Chr19:10254647 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3163A>G (p.Ile1055Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001909021] |
Chr19:10142174 [GRCh38] Chr19:10252850 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3292C>T (p.Arg1098Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001911686] |
Chr19:10142045 [GRCh38] Chr19:10252721 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.673T>A (p.Ser225Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002040914]|Inborn genetic diseases [RCV002361405] |
Chr19:10173881 [GRCh38] Chr19:10284557 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4445G>A (p.Arg1482His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002003119]|not provided [RCV003408046] |
Chr19:10137129 [GRCh38] Chr19:10247805 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.61C>G (p.Pro21Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001965678] |
Chr19:10194839 [GRCh38] Chr19:10305515 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1280+20C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001894809] |
Chr19:10159638 [GRCh38] Chr19:10270314 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2031G>T (p.Gln677His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002022721] |
Chr19:10151836 [GRCh38] Chr19:10262512 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3316A>G (p.Asn1106Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001894866] |
Chr19:10141183 [GRCh38] Chr19:10251859 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4490C>T (p.Ala1497Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001892358] |
Chr19:10136287 [GRCh38] Chr19:10246963 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2164GAT[3] (p.Asp723dup) |
microsatellite |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002007078] |
Chr19:10151493..10151494 [GRCh38] Chr19:10262169..10262170 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3838C>A (p.Leu1280Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002005397] |
Chr19:10139786 [GRCh38] Chr19:10250462 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3107A>G (p.Lys1036Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001885535] |
Chr19:10143775 [GRCh38] Chr19:10254451 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2386A>G (p.Thr796Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001944198] |
Chr19:10149653 [GRCh38] Chr19:10260329 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.142C>A (p.Leu48Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925968] |
Chr19:10180861 [GRCh38] Chr19:10291537 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.353G>A (p.Arg118His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001899700] |
Chr19:10180442 [GRCh38] Chr19:10291118 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.1744G>A (p.Glu582Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001904290] |
Chr19:10154674 [GRCh38] Chr19:10265350 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4773+14C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001977532] |
Chr19:10135722 [GRCh38] Chr19:10246398 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2020G>A (p.Val674Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001883138] |
Chr19:10151847 [GRCh38] Chr19:10262523 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4324C>T (p.Arg1442Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001921698]|Inborn genetic diseases [RCV002331464]|not provided [RCV002253992] |
Chr19:10137250 [GRCh38] Chr19:10247926 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2741G>A (p.Arg914His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001938132]|not provided [RCV003325588] |
Chr19:10146504 [GRCh38] Chr19:10257180 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4441G>A (p.Gly1481Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001993557] |
Chr19:10137133 [GRCh38] Chr19:10247809 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4172C>T (p.Pro1391Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001897876] |
Chr19:10137953 [GRCh38] Chr19:10248629 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3807-9C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001957680] |
Chr19:10139826 [GRCh38] Chr19:10250502 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4600G>C (p.Glu1534Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002012000] |
Chr19:10136177 [GRCh38] Chr19:10246853 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.4116-22_4116-20del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001915755] |
Chr19:10138029..10138031 [GRCh38] Chr19:10248705..10248707 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4002G>A (p.Ala1334=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001990496] |
Chr19:10138552 [GRCh38] Chr19:10249228 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.876A>C (p.Glu292Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001900012] |
Chr19:10166613 [GRCh38] Chr19:10277289 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.101A>G (p.Asp34Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002031912] |
Chr19:10182057 [GRCh38] Chr19:10292733 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3437C>G (p.Pro1146Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001955257]|not provided [RCV003426259] |
Chr19:10140867 [GRCh38] Chr19:10251543 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3667C>T (p.Arg1223Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001921106]|not provided [RCV003149005] |
Chr19:10140185 [GRCh38] Chr19:10250861 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4663G>A (p.Val1555Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002011597] |
Chr19:10135846 [GRCh38] Chr19:10246522 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4514C>T (p.Ala1505Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002036682] |
Chr19:10136263 [GRCh38] Chr19:10246939 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.464C>T (p.Ala155Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001884482] |
Chr19:10180216 [GRCh38] Chr19:10290892 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2554T>G (p.Tyr852Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001877745] |
Chr19:10149485 [GRCh38] Chr19:10260161 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1978_1980del (p.Lys660del) |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001883383] |
Chr19:10154332..10154334 [GRCh38] Chr19:10265008..10265010 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2895-15G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001905337] |
Chr19:10144002 [GRCh38] Chr19:10254678 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4850G>A (p.Arg1617Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925307] |
Chr19:10134231 [GRCh38] Chr19:10244907 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2644C>G (p.Gln882Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002013506] |
Chr19:10148960 [GRCh38] Chr19:10259636 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.469G>T (p.Ala157Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001885987] |
Chr19:10180211 [GRCh38] Chr19:10290887 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2310G>A (p.Ala770=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925952] |
Chr19:10149924 [GRCh38] Chr19:10260600 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.44T>C (p.Val15Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001869959] |
Chr19:10194856 [GRCh38] Chr19:10305532 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2788C>T (p.Leu930Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001959438] |
Chr19:10146457 [GRCh38] Chr19:10257133 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3809A>G (p.Tyr1270Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001972142] |
Chr19:10139815 [GRCh38] Chr19:10250491 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3806+7G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002017444] |
Chr19:10140039 [GRCh38] Chr19:10250715 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3143C>T (p.Pro1048Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002026508]|Inborn genetic diseases [RCV002324490] |
Chr19:10142194 [GRCh38] Chr19:10252870 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.150C>G (p.His50Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925550] |
Chr19:10180853 [GRCh38] Chr19:10291529 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3575C>T (p.Ala1192Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001976432] |
Chr19:10140277 [GRCh38] Chr19:10250953 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.833C>T (p.Pro278Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001900550]|Inborn genetic diseases [RCV002406975] |
Chr19:10166656 [GRCh38] Chr19:10277332 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4222C>T (p.Pro1408Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001924758] |
Chr19:10137903 [GRCh38] Chr19:10248579 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3177C>T (p.Tyr1059=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001939349] |
Chr19:10142160 [GRCh38] Chr19:10252836 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.736C>T (p.Arg246Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001886247]|Inborn genetic diseases [RCV002370431]|not provided [RCV002469420] |
Chr19:10173122 [GRCh38] Chr19:10283798 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.611A>G (p.Lys204Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001999117] |
Chr19:10175577 [GRCh38] Chr19:10286253 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2583G>A (p.Met861Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001924438] |
Chr19:10149456 [GRCh38] Chr19:10260132 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4856G>A (p.Ser1619Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001916627] |
Chr19:10134225 [GRCh38] Chr19:10244901 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2821T>G (p.Ser941Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001957891] |
Chr19:10146424 [GRCh38] Chr19:10257100 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2806C>G (p.Arg936Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001918765] |
Chr19:10146439 [GRCh38] Chr19:10257115 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1116C>G (p.Cys372Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001919587] |
Chr19:10159896 [GRCh38] Chr19:10270572 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.19C>T (p.Pro7Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001866672] |
Chr19:10194881 [GRCh38] Chr19:10305557 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4754T>C (p.Ile1585Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001917106] |
Chr19:10135755 [GRCh38] Chr19:10246431 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2382G>A (p.Arg794=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001994178] |
Chr19:10149657 [GRCh38] Chr19:10260333 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4115+13C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002091895] |
Chr19:10138426 [GRCh38] Chr19:10249102 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.684-8C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002166585] |
Chr19:10173182 [GRCh38] Chr19:10283858 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3583C>T (p.Leu1195=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002205606] |
Chr19:10140269 [GRCh38] Chr19:10250945 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2337C>T (p.Val779=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002112789] |
Chr19:10149897 [GRCh38] Chr19:10260573 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-8C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002074684] |
Chr19:10138613 [GRCh38] Chr19:10249289 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.81-15A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002090611] |
Chr19:10182092 [GRCh38] Chr19:10292768 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2382-16C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002124608] |
Chr19:10149673 [GRCh38] Chr19:10260349 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4359C>T (p.Arg1453=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185257] |
Chr19:10137215 [GRCh38] Chr19:10247891 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4116-16T>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002144752] |
Chr19:10138025 [GRCh38] Chr19:10248701 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.906C>T (p.His302=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002167747] |
Chr19:10163346 [GRCh38] Chr19:10274022 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2587-13C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002075234] |
Chr19:10149030 [GRCh38] Chr19:10259706 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1833-11C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002187913] |
Chr19:10154490 [GRCh38] Chr19:10265166 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4878G>A (p.Glu1626=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002107408] |
Chr19:10133688 [GRCh38] Chr19:10244364 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1492+18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002190498] |
Chr19:10155835 [GRCh38] Chr19:10266511 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4509C>T (p.Pro1503=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002125871] |
Chr19:10136268 [GRCh38] Chr19:10246944 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4774-12C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002108850] |
Chr19:10134319 [GRCh38] Chr19:10244995 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1832+11G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185062] |
Chr19:10154575 [GRCh38] Chr19:10265251 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1400-14T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002187149] |
Chr19:10155959 [GRCh38] Chr19:10266635 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4194G>A (p.Ser1398=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002169121] |
Chr19:10137931 [GRCh38] Chr19:10248607 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.570-4A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002109100] |
Chr19:10175622 [GRCh38] Chr19:10286298 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2894+10C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002110329] |
Chr19:10146341 [GRCh38] Chr19:10257017 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2217G>A (p.Lys739=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002090474] |
Chr19:10151446 [GRCh38] Chr19:10262122 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1009-5T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002091167] |
Chr19:10160423 [GRCh38] Chr19:10271099 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.80+18dup |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002126389] |
Chr19:10194801..10194802 [GRCh38] Chr19:10305477..10305478 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1089+9C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185561] |
Chr19:10160009 [GRCh38] Chr19:10270685 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3066C>T (p.Asn1022=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002086107] |
Chr19:10143816 [GRCh38] Chr19:10254492 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.493+14C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002130381] |
Chr19:10180173 [GRCh38] Chr19:10290849 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2117+14del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002075200] |
Chr19:10151736 [GRCh38] Chr19:10262412 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2814C>G (p.Leu938=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002173687] |
Chr19:10146431 [GRCh38] Chr19:10257107 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4230C>T (p.Ser1410=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002097517] |
Chr19:10137895 [GRCh38] Chr19:10248571 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1832+17G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002134963] |
Chr19:10154569 [GRCh38] Chr19:10265245 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4490-10T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002114129] |
Chr19:10136297 [GRCh38] Chr19:10246973 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3720G>A (p.Pro1240=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002212056] |
Chr19:10140132 [GRCh38] Chr19:10250808 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.445+7G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002112940] |
Chr19:10180343 [GRCh38] Chr19:10291019 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4026G>C (p.Leu1342=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002167412] |
Chr19:10138528 [GRCh38] Chr19:10249204 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.891+9G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002213558] |
Chr19:10166589 [GRCh38] Chr19:10277265 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.118-15A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002114902] |
Chr19:10180900 [GRCh38] Chr19:10291576 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4662C>T (p.Arg1554=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002078891] |
Chr19:10135847 [GRCh38] Chr19:10246523 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+12G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002096337] |
Chr19:10135724 [GRCh38] Chr19:10246400 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4657-18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002171011] |
Chr19:10135870 [GRCh38] Chr19:10246546 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4490-16C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002171192] |
Chr19:10136303 [GRCh38] Chr19:10246979 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1170+18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002172608] |
Chr19:10159824 [GRCh38] Chr19:10270500 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4638C>T (p.Pro1546=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002211615] |
Chr19:10136139 [GRCh38] Chr19:10246815 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.446-20C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002080474] |
Chr19:10180254 [GRCh38] Chr19:10290930 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.411G>A (p.Thr137=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002095330] |
Chr19:10180384 [GRCh38] Chr19:10291060 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2586+11G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002146754] |
Chr19:10149442 [GRCh38] Chr19:10260118 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1044-8T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002195922] |
Chr19:10160071 [GRCh38] Chr19:10270747 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3832T>C (p.Phe1278Leu) |
single nucleotide variant |
not provided [RCV002214088] |
Chr19:10139792 [GRCh38] Chr19:10250468 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1492+18C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002108910] |
Chr19:10155835 [GRCh38] Chr19:10266511 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+19G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002093034] |
Chr19:10135717 [GRCh38] Chr19:10246393 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2367G>T (p.Pro789=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002080035] |
Chr19:10149867 [GRCh38] Chr19:10260543 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2587-16A>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002170263] |
Chr19:10149033 [GRCh38] Chr19:10259709 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3806+17C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185072] |
Chr19:10140029 [GRCh38] Chr19:10250705 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2493C>G (p.Phe831Leu) |
single nucleotide variant |
not provided [RCV002224671] |
Chr19:10149546 [GRCh38] Chr19:10260222 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1470G>A (p.Lys490=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002152244] |
Chr19:10155875 [GRCh38] Chr19:10266551 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-17G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002127685] |
Chr19:10138622 [GRCh38] Chr19:10249298 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1089+18A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002149519] |
Chr19:10160000 [GRCh38] Chr19:10270676 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2973A>G (p.Lys991=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002078204] |
Chr19:10143909 [GRCh38] Chr19:10254585 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.80+20A>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002091327] |
Chr19:10194800 [GRCh38] Chr19:10305476 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3294C>T (p.Arg1098=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002212484] |
Chr19:10142043 [GRCh38] Chr19:10252719 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1280+14C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002173366] |
Chr19:10159644 [GRCh38] Chr19:10270320 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-9C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002104656] |
Chr19:10138614 [GRCh38] Chr19:10249290 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4440C>T (p.Asn1480=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002149352] |
Chr19:10137134 [GRCh38] Chr19:10247810 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.246C>G (p.Val82=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002196792] |
Chr19:10180549 [GRCh38] Chr19:10291225 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4179G>C (p.Val1393=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002167916] |
Chr19:10137946 [GRCh38] Chr19:10248622 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1890A>T (p.Gly630=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002076630] |
Chr19:10154422 [GRCh38] Chr19:10265098 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1044-14T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002126948] |
Chr19:10160077 [GRCh38] Chr19:10270753 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1089+12C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002094359] |
Chr19:10160006 [GRCh38] Chr19:10270682 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.891+19T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002075610] |
Chr19:10166579 [GRCh38] Chr19:10277255 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2391G>T (p.Ala797=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002152050] |
Chr19:10149648 [GRCh38] Chr19:10260324 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1009-17T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002195816] |
Chr19:10160435 [GRCh38] Chr19:10271111 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3395-11C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002127162] |
Chr19:10140920 [GRCh38] Chr19:10251596 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2020-12G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002077967] |
Chr19:10151859 [GRCh38] Chr19:10262535 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1170+13C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002213684] |
Chr19:10159829 [GRCh38] Chr19:10270505 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4489+18T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002095192] |
Chr19:10137067 [GRCh38] Chr19:10247743 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.648+18A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002099589] |
Chr19:10175522 [GRCh38] Chr19:10286198 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.768+11A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002119384] |
Chr19:10173079 [GRCh38] Chr19:10283755 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2382-16C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002159808] |
Chr19:10149673 [GRCh38] Chr19:10260349 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4024C>T (p.Leu1342=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002218734] |
Chr19:10138530 [GRCh38] Chr19:10249206 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.81-3del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002158323] |
Chr19:10182080 [GRCh38] Chr19:10292756 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3537G>T (p.Thr1179=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002178850] |
Chr19:10140315 [GRCh38] Chr19:10250991 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+15G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002220331] |
Chr19:10135721 [GRCh38] Chr19:10246397 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.446-10T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002083406] |
Chr19:10180244 [GRCh38] Chr19:10290920 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2904G>C (p.Leu968=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002159901] |
Chr19:10143978 [GRCh38] Chr19:10254654 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.684-17G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002142881] |
Chr19:10173191 [GRCh38] Chr19:10283867 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2412C>T (p.Asn804=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002123835] |
Chr19:10149627 [GRCh38] Chr19:10260303 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4521G>A (p.Gln1507=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002120001] |
Chr19:10136256 [GRCh38] Chr19:10246932 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln) |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002227775] |
Chr19:10137989 [GRCh38] Chr19:10248665 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.226-7G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002182105] |
Chr19:10180576 [GRCh38] Chr19:10291252 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-5C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002164167]|Inborn genetic diseases [RCV002363693] |
Chr19:10138610 [GRCh38] Chr19:10249286 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001130823.3(DNMT1):c.2019+19G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002103468] |
Chr19:10154274 [GRCh38] Chr19:10264950 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3120T>C (p.Pro1040=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002162592] |
Chr19:10142217 [GRCh38] Chr19:10252893 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3523+7G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002137115] |
Chr19:10140774 [GRCh38] Chr19:10251450 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3000C>T (p.Asn1000=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002218469] |
Chr19:10143882 [GRCh38] Chr19:10254558 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1089+18A>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002097871] |
Chr19:10160000 [GRCh38] Chr19:10270676 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2670G>A (p.Ala890=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002121256] |
Chr19:10148934 [GRCh38] Chr19:10259610 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.714T>C (p.Pro238=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002202904] |
Chr19:10173144 [GRCh38] Chr19:10283820 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4294-18C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002163036] |
Chr19:10137298 [GRCh38] Chr19:10247974 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.834G>A (p.Pro278=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002156487] |
Chr19:10166655 [GRCh38] Chr19:10277331 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2280G>A (p.Lys760=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002159658] |
Chr19:10149954 [GRCh38] Chr19:10260630 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.648+17C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002081993] |
Chr19:10175523 [GRCh38] Chr19:10286199 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+11C>T |
single nucleotide variant |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002500124]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002081999] |
Chr19:10135725 [GRCh38] Chr19:10246401 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4115+17G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002118372] |
Chr19:10138422 [GRCh38] Chr19:10249098 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4272C>T (p.Ile1424=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002102601] |
Chr19:10137853 [GRCh38] Chr19:10248529 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3024A>G (p.Arg1008=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002162100] |
Chr19:10143858 [GRCh38] Chr19:10254534 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2286C>T (p.Tyr762=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002124023] |
Chr19:10149948 [GRCh38] Chr19:10260624 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4657-5C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002155664] |
Chr19:10135857 [GRCh38] Chr19:10246533 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.183A>G (p.Leu61=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002161625] |
Chr19:10180820 [GRCh38] Chr19:10291496 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3231C>A (p.Thr1077=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002203555] |
Chr19:10142106 [GRCh38] Chr19:10252782 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1644+8A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002083739] |
Chr19:10154897 [GRCh38] Chr19:10265573 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2904G>T (p.Leu968=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002178135] |
Chr19:10143978 [GRCh38] Chr19:10254654 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.892-16C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002181494] |
Chr19:10163376 [GRCh38] Chr19:10274052 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1839C>G (p.Ala613=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002142058] |
Chr19:10154473 [GRCh38] Chr19:10265149 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.849G>A (p.Arg283=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002163082] |
Chr19:10166640 [GRCh38] Chr19:10277316 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2103T>C (p.Ala701=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002155379] |
Chr19:10151764 [GRCh38] Chr19:10262440 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.569+17T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003110673] |
Chr19:10177275 [GRCh38] Chr19:10287951 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2874C>A (p.Pro958=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003110684] |
Chr19:10146371 [GRCh38] Chr19:10257047 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3504G>A (p.Ser1168=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003116959] |
Chr19:10140800 [GRCh38] Chr19:10251476 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1090-13C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003117095] |
Chr19:10159935 [GRCh38] Chr19:10270611 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3949-18C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003118566] |
Chr19:10138623 [GRCh38] Chr19:10249299 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3186C>G (p.Asp1062Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003122279] |
Chr19:10142151 [GRCh38] Chr19:10252827 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.432T>C (p.Asp144=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003118702] |
Chr19:10180363 [GRCh38] Chr19:10291039 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.4416G>A (p.Arg1472=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003121487] |
Chr19:10137158 [GRCh38] Chr19:10247834 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2242T>G (p.Ser748Ala) |
single nucleotide variant |
Spastic paraparesis [RCV002226875] |
Chr19:10151421 [GRCh38] Chr19:10262097 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2569G>A (p.Glu857Lys) |
single nucleotide variant |
not provided [RCV002274699] |
Chr19:10149470 [GRCh38] Chr19:10260146 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.29T>G (p.Val10Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002435612] |
Chr19:10194871 [GRCh38] Chr19:10305547 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2019+8C>A |
single nucleotide variant |
not provided [RCV002276061] |
Chr19:10154285 [GRCh38] Chr19:10264961 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.490A>G (p.Arg164Gly) |
single nucleotide variant |
not provided [RCV002275409] |
Chr19:10180190 [GRCh38] Chr19:10290866 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4746C>G (p.Phe1582Leu) |
single nucleotide variant |
not provided [RCV002265248] |
Chr19:10135763 [GRCh38] Chr19:10246439 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3760C>T (p.Arg1254Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003094319]|Inborn genetic diseases [RCV002349018] |
Chr19:10140092 [GRCh38] Chr19:10250768 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2894+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002435299] |
Chr19:10146348 [GRCh38] Chr19:10257024 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3363C>G (p.Ser1121Arg) |
single nucleotide variant |
not provided [RCV002293752] |
Chr19:10141136 [GRCh38] Chr19:10251812 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1829A>G (p.Gln610Arg) |
single nucleotide variant |
not provided [RCV002293781] |
Chr19:10154589 [GRCh38] Chr19:10265265 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3081G>T (p.Glu1027Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002438133] |
Chr19:10143801 [GRCh38] Chr19:10254477 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2737G>T (p.Ala913Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002437349] |
Chr19:10146508 [GRCh38] Chr19:10257184 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3800T>C (p.Phe1267Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003095881]|not provided [RCV002261602] |
Chr19:10140052 [GRCh38] Chr19:10250728 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3835T>C (p.Phe1279Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002351178] |
Chr19:10139789 [GRCh38] Chr19:10250465 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3359G>A (p.Arg1120His) |
single nucleotide variant |
Inborn genetic diseases [RCV002454715] |
Chr19:10141140 [GRCh38] Chr19:10251816 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.289C>T (p.His97Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002438018] |
Chr19:10180506 [GRCh38] Chr19:10291182 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.373G>A (p.Ala125Thr) |
single nucleotide variant |
not provided [RCV003129082] |
Chr19:10180422 [GRCh38] Chr19:10291098 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3670G>A (p.Gly1224Ser) |
single nucleotide variant |
not provided [RCV003156694] |
Chr19:10140182 [GRCh38] Chr19:10250858 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1590G>A (p.Glu530=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002681593] |
Chr19:10154959 [GRCh38] Chr19:10265635 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3256G>A (p.Glu1086Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002470411] |
Chr19:10142081 [GRCh38] Chr19:10252757 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3176A>G (p.Tyr1059Cys) |
single nucleotide variant |
not provided [RCV002473404] |
Chr19:10142161 [GRCh38] Chr19:10252837 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4895A>G (p.Asp1632Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002303771] |
Chr19:10133671 [GRCh38] Chr19:10244347 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.64G>A (p.Asp22Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002364133] |
Chr19:10194836 [GRCh38] Chr19:10305512 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.926T>G (p.Leu309Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002304043] |
Chr19:10163326 [GRCh38] Chr19:10274002 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1880A>G (p.Lys627Arg) |
single nucleotide variant |
not provided [RCV002469532] |
Chr19:10154432 [GRCh38] Chr19:10265108 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.917C>A (p.Pro306His) |
single nucleotide variant |
Inborn genetic diseases [RCV002449710] |
Chr19:10163335 [GRCh38] Chr19:10274011 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2623G>T (p.Asp875Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002426040] |
Chr19:10148981 [GRCh38] Chr19:10259657 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3937G>T (p.Gly1313Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002299109] |
Chr19:10139687 [GRCh38] Chr19:10250363 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3149G>C (p.Ser1050Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002325993] |
Chr19:10142188 [GRCh38] Chr19:10252864 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1170+5G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002440249] |
Chr19:10159837 [GRCh38] Chr19:10270513 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2828C>T (p.Thr943Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002296141] |
Chr19:10146417 [GRCh38] Chr19:10257093 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.31C>G (p.Pro11Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002322954] |
Chr19:10194869 [GRCh38] Chr19:10305545 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4325G>A (p.Arg1442Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002330080] |
Chr19:10137249 [GRCh38] Chr19:10247925 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3806+6C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002363823] |
Chr19:10140040 [GRCh38] Chr19:10250716 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2806C>T (p.Arg936Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002439442] |
Chr19:10146439 [GRCh38] Chr19:10257115 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4255G>T (p.Ala1419Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002327908] |
Chr19:10137870 [GRCh38] Chr19:10248546 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2816A>G (p.Tyr939Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002439569] |
Chr19:10146429 [GRCh38] Chr19:10257105 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4828C>T (p.Leu1610Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002303404] |
Chr19:10134253 [GRCh38] Chr19:10244929 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4375G>A (p.Glu1459Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002332073] |
Chr19:10137199 [GRCh38] Chr19:10247875 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1844C>T (p.Ala615Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002407801] |
Chr19:10154468 [GRCh38] Chr19:10265144 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.889A>C (p.Lys297Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003099938]|Inborn genetic diseases [RCV002412609] |
Chr19:10166600 [GRCh38] Chr19:10277276 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3824G>A (p.Arg1275Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002363875] |
Chr19:10139800 [GRCh38] Chr19:10250476 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1595T>C (p.Leu532Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002403290] |
Chr19:10154954 [GRCh38] Chr19:10265630 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3253C>T (p.Pro1085Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002295111] |
Chr19:10142084 [GRCh38] Chr19:10252760 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4773+3C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002335428] |
Chr19:10135733 [GRCh38] Chr19:10246409 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4683C>G (p.His1561Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002342577] |
Chr19:10135826 [GRCh38] Chr19:10246502 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2956C>G (p.Pro986Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003102862]|Inborn genetic diseases [RCV002439780] |
Chr19:10143926 [GRCh38] Chr19:10254602 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4382G>A (p.Arg1461Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002615424] |
Chr19:10137192 [GRCh38] Chr19:10247868 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3807-7C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003012319] |
Chr19:10139824 [GRCh38] Chr19:10250500 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4478C>G (p.Ser1493Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002971173] |
Chr19:10137096 [GRCh38] Chr19:10247772 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2390C>T (p.Ala797Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002731246]|not provided [RCV003238905] |
Chr19:10149649 [GRCh38] Chr19:10260325 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4657-17G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003074054] |
Chr19:10135869 [GRCh38] Chr19:10246545 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.927-20T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002863582] |
Chr19:10162768 [GRCh38] Chr19:10273444 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1493-16C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002843628] |
Chr19:10155072 [GRCh38] Chr19:10265748 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.205C>G (p.Arg69Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002947207] |
Chr19:10180798 [GRCh38] Chr19:10291474 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.748G>A (p.Glu250Lys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002756154] |
Chr19:10173110 [GRCh38] Chr19:10283786 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3948+18G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003034141] |
Chr19:10139658 [GRCh38] Chr19:10250334 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1872C>A (p.Thr624=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003075616] |
Chr19:10154440 [GRCh38] Chr19:10265116 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1047G>A (p.Thr349=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002907986] |
Chr19:10160060 [GRCh38] Chr19:10270736 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.386C>G (p.Pro129Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003095819] |
Chr19:10180409 [GRCh38] Chr19:10291085 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1043+19C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002615115] |
Chr19:10160365 [GRCh38] Chr19:10271041 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1171-14C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002993758] |
Chr19:10159781 [GRCh38] Chr19:10270457 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1350C>T (p.Phe450=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002730847] |
Chr19:10156440 [GRCh38] Chr19:10267116 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2740C>T (p.Arg914Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002996254] |
Chr19:10146505 [GRCh38] Chr19:10257181 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.879T>G (p.Asp293Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002815704] |
Chr19:10166610 [GRCh38] Chr19:10277286 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2289T>C (p.Tyr763=) |
single nucleotide variant |
not provided [RCV002511914] |
Chr19:10149945 [GRCh38] Chr19:10260621 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3723C>T (p.Pro1241=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003013367] |
Chr19:10140129 [GRCh38] Chr19:10250805 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4269C>A (p.Pro1423=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002903171] |
Chr19:10137856 [GRCh38] Chr19:10248532 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.444G>A (p.Lys148=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002861740] |
Chr19:10180351 [GRCh38] Chr19:10291027 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.226-14C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002730551] |
Chr19:10180583 [GRCh38] Chr19:10291259 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4656+13G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002858032] |
Chr19:10136108 [GRCh38] Chr19:10246784 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2117+12C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002907659] |
Chr19:10151738 [GRCh38] Chr19:10262414 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1008+20_1008+21del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002681164] |
Chr19:10162646..10162647 [GRCh38] Chr19:10273322..10273323 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1883A>G (p.Asp628Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002947453] |
Chr19:10154429 [GRCh38] Chr19:10265105 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4360G>A (p.Asp1454Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003034762] |
Chr19:10137214 [GRCh38] Chr19:10247890 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1251G>A (p.Ala417=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003095801] |
Chr19:10159687 [GRCh38] Chr19:10270363 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2767A>T (p.Ile923Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002618480] |
Chr19:10146478 [GRCh38] Chr19:10257154 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3299A>G (p.Tyr1100Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003098979] |
Chr19:10142038 [GRCh38] Chr19:10252714 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.672A>C (p.Thr224=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002774808] |
Chr19:10173882 [GRCh38] Chr19:10284558 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4630A>T (p.Thr1544Ser) |
single nucleotide variant |
not provided [RCV002462604] |
Chr19:10136147 [GRCh38] Chr19:10246823 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.22G>T (p.Ala8Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002755751] |
Chr19:10194878 [GRCh38] Chr19:10305554 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.80+14G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002904291] |
Chr19:10194806 [GRCh38] Chr19:10305482 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.385C>G (p.Pro129Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003033788] |
Chr19:10180410 [GRCh38] Chr19:10291086 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.493+3A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003017323] |
Chr19:10180184 [GRCh38] Chr19:10290860 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.352C>T (p.Arg118Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002953634] |
Chr19:10180443 [GRCh38] Chr19:10291119 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4884A>T (p.Glu1628Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002800271] |
Chr19:10133682 [GRCh38] Chr19:10244358 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2783A>G (p.Glu928Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002953117] |
Chr19:10146462 [GRCh38] Chr19:10257138 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3988A>G (p.Ile1330Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003055191] |
Chr19:10138566 [GRCh38] Chr19:10249242 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4146G>C (p.Thr1382=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002740141] |
Chr19:10137979 [GRCh38] Chr19:10248655 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.6G>A (p.Pro2=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002785908] |
Chr19:10194894 [GRCh38] Chr19:10305570 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3516C>T (p.His1172=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002592260] |
Chr19:10140788 [GRCh38] Chr19:10251464 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4172C>G (p.Pro1391Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002914007] |
Chr19:10137953 [GRCh38] Chr19:10248629 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4509C>G (p.Pro1503=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002705850] |
Chr19:10136268 [GRCh38] Chr19:10246944 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.926+14A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002886244] |
Chr19:10163312 [GRCh38] Chr19:10273988 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2855G>A (p.Gly952Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002998761] |
Chr19:10146390 [GRCh38] Chr19:10257066 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3806+6C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003019428] |
Chr19:10140040 [GRCh38] Chr19:10250716 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2707G>A (p.Asp903Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003037637] |
Chr19:10148897 [GRCh38] Chr19:10259573 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.768+9C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002785515] |
Chr19:10173081 [GRCh38] Chr19:10283757 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.118-17C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002979920] |
Chr19:10180902 [GRCh38] Chr19:10291578 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4281C>A (p.Asp1427Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003019220] |
Chr19:10137844 [GRCh38] Chr19:10248520 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3033G>A (p.Arg1011=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002926651] |
Chr19:10143849 [GRCh38] Chr19:10254525 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4454C>T (p.Ser1485Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002695533] |
Chr19:10137120 [GRCh38] Chr19:10247796 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2769C>G (p.Ile923Met) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002639991] |
Chr19:10146476 [GRCh38] Chr19:10257152 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4657-16C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002795179] |
Chr19:10135868 [GRCh38] Chr19:10246544 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4489+17G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002885902] |
Chr19:10137068 [GRCh38] Chr19:10247744 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3395-15G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003078871] |
Chr19:10140924 [GRCh38] Chr19:10251600 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.803+12G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002639488] |
Chr19:10168318 [GRCh38] Chr19:10278994 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1341C>T (p.Ile447=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002913696] |
Chr19:10156449 [GRCh38] Chr19:10267125 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3400G>A (p.Gly1134Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003081269] |
Chr19:10140904 [GRCh38] Chr19:10251580 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4482C>T (p.Cys1494=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002761480] |
Chr19:10137092 [GRCh38] Chr19:10247768 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2117+20C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003079704] |
Chr19:10151730 [GRCh38] Chr19:10262406 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3937G>C (p.Gly1313Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003038949] |
Chr19:10139687 [GRCh38] Chr19:10250363 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2117+17C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002949520] |
Chr19:10151733 [GRCh38] Chr19:10262409 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.479T>C (p.Val160Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003002638] |
Chr19:10180201 [GRCh38] Chr19:10290877 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1016A>G (p.Lys339Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002796950] |
Chr19:10160411 [GRCh38] Chr19:10271087 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1008+10T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003080680] |
Chr19:10162657 [GRCh38] Chr19:10273333 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1905C>G (p.Thr635=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002953203] |
Chr19:10154407 [GRCh38] Chr19:10265083 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.3116+14_3116+32del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002637637] |
Chr19:10143734..10143752 [GRCh38] Chr19:10254410..10254428 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.445+7G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003041768] |
Chr19:10180343 [GRCh38] Chr19:10291019 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2148_2150del (p.Asp718del) |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003024862] |
Chr19:10151513..10151515 [GRCh38] Chr19:10262189..10262191 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1101C>T (p.Pro367=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002642564] |
Chr19:10159911 [GRCh38] Chr19:10270587 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3153C>T (p.Tyr1051=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002875571] |
Chr19:10142184 [GRCh38] Chr19:10252860 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1644+16T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002700731] |
Chr19:10154889 [GRCh38] Chr19:10265565 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4864+18A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002711351] |
Chr19:10134199 [GRCh38] Chr19:10244875 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.804-5G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002667621] |
Chr19:10166690 [GRCh38] Chr19:10277366 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1077C>G (p.Val359=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003085449] |
Chr19:10160030 [GRCh38] Chr19:10270706 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3524-17C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003058850] |
Chr19:10140345 [GRCh38] Chr19:10251021 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.429C>T (p.Ser143=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003085979] |
Chr19:10180366 [GRCh38] Chr19:10291042 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1646C>T (p.Thr549Ile) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003058862] |
Chr19:10154772 [GRCh38] Chr19:10265448 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1399+15G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002596936] |
Chr19:10156376 [GRCh38] Chr19:10267052 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002745489] |
Chr19:10194853 [GRCh38] Chr19:10305529 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3949-3C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002626947] |
Chr19:10138608 [GRCh38] Chr19:10249284 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2855G>C (p.Gly952Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002667834] |
Chr19:10146390 [GRCh38] Chr19:10257066 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2562C>T (p.Ala854=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002932051] |
Chr19:10149477 [GRCh38] Chr19:10260153 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2668G>T (p.Ala890Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003005475] |
Chr19:10148936 [GRCh38] Chr19:10259612 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.230G>C (p.Gly77Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003056531] |
Chr19:10180565 [GRCh38] Chr19:10291241 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3309+20G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002890453] |
Chr19:10142008 [GRCh38] Chr19:10252684 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.153A>T (p.Glu51Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003041155] |
Chr19:10180850 [GRCh38] Chr19:10291526 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2619G>A (p.Gly873=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002851366] |
Chr19:10148985 [GRCh38] Chr19:10259661 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3466C>T (p.Arg1156Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002700500] |
Chr19:10140838 [GRCh38] Chr19:10251514 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.381C>T (p.Ser127=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002800697] |
Chr19:10180414 [GRCh38] Chr19:10291090 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.375C>T (p.Ala125=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003083011] |
Chr19:10180420 [GRCh38] Chr19:10291096 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4864+13G>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002852729] |
Chr19:10134204 [GRCh38] Chr19:10244880 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4489+15T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002894714] |
Chr19:10137070 [GRCh38] Chr19:10247746 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3806+10dup |
duplication |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002825644] |
Chr19:10140035..10140036 [GRCh38] Chr19:10250711..10250712 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.892-7C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002741304] |
Chr19:10163367 [GRCh38] Chr19:10274043 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2321A>G (p.Glu774Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002829390] |
Chr19:10149913 [GRCh38] Chr19:10260589 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1281-17C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002640724] |
Chr19:10156526 [GRCh38] Chr19:10267202 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2229C>T (p.Asn743=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003007410] |
Chr19:10151434 [GRCh38] Chr19:10262110 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4867A>G (p.Lys1623Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002805418] |
Chr19:10133699 [GRCh38] Chr19:10244375 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2814C>T (p.Leu938=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002985604] |
Chr19:10146431 [GRCh38] Chr19:10257107 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3807-7C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003022326] |
Chr19:10139824 [GRCh38] Chr19:10250500 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2634C>T (p.Thr878=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002932958] |
Chr19:10148970 [GRCh38] Chr19:10259646 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.80+11T>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002890836] |
Chr19:10194809 [GRCh38] Chr19:10305485 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.804-14G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003006237] |
Chr19:10166699 [GRCh38] Chr19:10277375 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3443T>G (p.Ile1148Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002766935] |
Chr19:10140861 [GRCh38] Chr19:10251537 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4842C>T (p.Ala1614=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002801490] |
Chr19:10134239 [GRCh38] Chr19:10244915 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.684A>G (p.Arg228=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002745285] |
Chr19:10173174 [GRCh38] Chr19:10283850 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3931A>G (p.Thr1311Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002667620] |
Chr19:10139693 [GRCh38] Chr19:10250369 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1164A>G (p.Pro388=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002666531] |
Chr19:10159848 [GRCh38] Chr19:10270524 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2721-15C>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002801615] |
Chr19:10146539 [GRCh38] Chr19:10257215 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.740C>A (p.Thr247Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002631004] |
Chr19:10173118 [GRCh38] Chr19:10283794 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3949-12_3949-10del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002942030] |
Chr19:10138615..10138617 [GRCh38] Chr19:10249291..10249293 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2299T>G (p.Cys767Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003087977] |
Chr19:10149935 [GRCh38] Chr19:10260611 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1297G>A (p.Gly433Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002631742] |
Chr19:10156493 [GRCh38] Chr19:10267169 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2823A>G (p.Ser941=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002721159] |
Chr19:10146422 [GRCh38] Chr19:10257098 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3909G>C (p.Leu1303=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002966291] |
Chr19:10139715 [GRCh38] Chr19:10250391 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3898C>G (p.Leu1300Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002628919] |
Chr19:10139726 [GRCh38] Chr19:10250402 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1087A>G (p.Lys363Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002676231] |
Chr19:10160020 [GRCh38] Chr19:10270696 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.570-12TG[3] |
microsatellite |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002746476] |
Chr19:10175623..10175624 [GRCh38] Chr19:10286299..10286300 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4203G>A (p.Glu1401=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003061337] |
Chr19:10137922 [GRCh38] Chr19:10248598 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.594A>G (p.Glu198=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002578345] |
Chr19:10175594 [GRCh38] Chr19:10286270 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4287C>T (p.Ile1429=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002576580] |
Chr19:10137838 [GRCh38] Chr19:10248514 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2118-12G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002922480] |
Chr19:10151557 [GRCh38] Chr19:10262233 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2206C>G (p.Gln736Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002647334] |
Chr19:10151457 [GRCh38] Chr19:10262133 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.252C>G (p.Ser84=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002835122] |
Chr19:10180543 [GRCh38] Chr19:10291219 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.710A>T (p.Glu237Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002988353] |
Chr19:10173148 [GRCh38] Chr19:10283824 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3807-11G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002600111] |
Chr19:10139828 [GRCh38] Chr19:10250504 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4657-9_4657-8del |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003062818] |
Chr19:10135860..10135861 [GRCh38] Chr19:10246536..10246537 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1644+8A>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003026764] |
Chr19:10154897 [GRCh38] Chr19:10265573 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1849C>T (p.Arg617Trp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002715167] |
Chr19:10154463 [GRCh38] Chr19:10265139 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3117-6T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002601315] |
Chr19:10142226 [GRCh38] Chr19:10252902 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.497A>G (p.Glu166Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002716632] |
Chr19:10177364 [GRCh38] Chr19:10288040 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.1493-15_1493-13del |
microsatellite |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002629929] |
Chr19:10155069..10155071 [GRCh38] Chr19:10265745..10265747 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.212A>G (p.Glu71Gly) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002938554] |
Chr19:10180791 [GRCh38] Chr19:10291467 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.927-4G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002717251] |
Chr19:10162752 [GRCh38] Chr19:10273428 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.81-6T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002630634] |
Chr19:10182083 [GRCh38] Chr19:10292759 [GRCh37] Chr19:19p13.2 |
benign |
NM_001130823.3(DNMT1):c.2808G>T (p.Arg936=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003045670] |
Chr19:10146437 [GRCh38] Chr19:10257113 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.957A>T (p.Glu319Asp) |
single nucleotide variant |
DNMT1-related condition [RCV003404050]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003063450] |
Chr19:10162718 [GRCh38] Chr19:10273394 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4294-18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002933677] |
Chr19:10137298 [GRCh38] Chr19:10247974 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.625A>G (p.Ile209Val) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002770733] |
Chr19:10175563 [GRCh38] Chr19:10286239 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3806+16C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003064825] |
Chr19:10140030 [GRCh38] Chr19:10250706 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1044-10T>C |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002988879] |
Chr19:10160073 [GRCh38] Chr19:10270749 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1530G>T (p.Glu510Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003086914] |
Chr19:10155019 [GRCh38] Chr19:10265695 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2720+19C>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002647533] |
Chr19:10148865 [GRCh38] Chr19:10259541 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2875C>T (p.Pro959Ser) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003030448] |
Chr19:10146370 [GRCh38] Chr19:10257046 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1832+13_1832+14inv |
inversion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002576865] |
Chr19:10154572..10154573 [GRCh38] Chr19:10265248..10265249 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.439G>A (p.Ala147Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002941033] |
Chr19:10180356 [GRCh38] Chr19:10291032 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1827A>G (p.Gly609=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003065070] |
Chr19:10154591 [GRCh38] Chr19:10265267 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.570-18C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002576536] |
Chr19:10175636 [GRCh38] Chr19:10286312 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3665C>G (p.Ser1222Cys) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002806499] |
Chr19:10140187 [GRCh38] Chr19:10250863 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.735G>A (p.Thr245=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003068034] |
Chr19:10173123 [GRCh38] Chr19:10283799 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.833C>G (p.Pro278Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003092227]|not provided [RCV003151912] |
Chr19:10166656 [GRCh38] Chr19:10277332 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1710G>A (p.Ala570=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003050715] |
Chr19:10154708 [GRCh38] Chr19:10265384 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.898A>G (p.Lys300Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002634729] |
Chr19:10163354 [GRCh38] Chr19:10274030 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3532G>C (p.Asp1178His) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002635809] |
Chr19:10140320 [GRCh38] Chr19:10250996 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4251G>C (p.Arg1417=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002606543] |
Chr19:10137874 [GRCh38] Chr19:10248550 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.648+19T>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002585383] |
Chr19:10175521 [GRCh38] Chr19:10286197 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.569+11G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003073473] |
Chr19:10177281 [GRCh38] Chr19:10287957 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4799T>G (p.Leu1600Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003050219] |
Chr19:10134282 [GRCh38] Chr19:10244958 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2382-19G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002609511] |
Chr19:10149676 [GRCh38] Chr19:10260352 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2457A>T (p.Thr819=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002634049] |
Chr19:10149582 [GRCh38] Chr19:10260258 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4490-9G>A |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002606372] |
Chr19:10136296 [GRCh38] Chr19:10246972 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.648+7C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003068726] |
Chr19:10175533 [GRCh38] Chr19:10286209 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4158G>C (p.Thr1386=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003068887] |
Chr19:10137967 [GRCh38] Chr19:10248643 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1650G>A (p.Thr550=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002587849] |
Chr19:10154768 [GRCh38] Chr19:10265444 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4434G>A (p.Arg1478=) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003066223] |
Chr19:10137140 [GRCh38] Chr19:10247816 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2764_2766del (p.Glu922del) |
deletion |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002603210] |
Chr19:10146479..10146481 [GRCh38] Chr19:10257155..10257157 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4C>T (p.Pro2Ser) |
single nucleotide variant |
not provided [RCV003225556] |
Chr19:10194896 [GRCh38] Chr19:10305572 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1280+2T>C |
single nucleotide variant |
not provided [RCV003146805] |
Chr19:10159656 [GRCh38] Chr19:10270332 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2801A>C (p.Asp934Ala) |
single nucleotide variant |
not provided [RCV003225465] |
Chr19:10146444 [GRCh38] Chr19:10257120 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.804-8T>C |
single nucleotide variant |
not provided [RCV003222960] |
Chr19:10166693 [GRCh38] Chr19:10277369 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4700G>A (p.Arg1567Gln) |
single nucleotide variant |
not provided [RCV003146806] |
Chr19:10135809 [GRCh38] Chr19:10246485 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3255C>T (p.Pro1085=) |
single nucleotide variant |
not provided [RCV003146804] |
Chr19:10142082 [GRCh38] Chr19:10252758 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3524-5G>T |
single nucleotide variant |
not specified [RCV003324421] |
Chr19:10140333 [GRCh38] Chr19:10251009 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3678G>A (p.Arg1226=) |
single nucleotide variant |
not provided [RCV003329591] |
Chr19:10140174 [GRCh38] Chr19:10250850 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2894+4A>G |
single nucleotide variant |
not provided [RCV003423328] |
Chr19:10146347 [GRCh38] Chr19:10257023 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2656G>C (p.Asp886His) |
single nucleotide variant |
Inborn genetic diseases [RCV003356974] |
Chr19:10148948 [GRCh38] Chr19:10259624 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2347C>A (p.Pro783Thr) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447422] |
Chr19:10149887 [GRCh38] Chr19:10260563 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.184T>C (p.Cys62Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003875357] |
Chr19:10180819 [GRCh38] Chr19:10291495 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3949-19C>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003642368] |
Chr19:10138624 [GRCh38] Chr19:10249300 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.1489A>C (p.Thr497Pro) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447419] |
Chr19:10155856 [GRCh38] Chr19:10266532 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1618T>G (p.Tyr540Asp) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447420] |
Chr19:10154931 [GRCh38] Chr19:10265607 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.2587-16A>G |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003872687] |
Chr19:10149033 [GRCh38] Chr19:10259709 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2721-8T>C |
single nucleotide variant |
not provided [RCV003457014] |
Chr19:10146532 [GRCh38] Chr19:10257208 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.3655A>G (p.Thr1219Ala) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003445347] |
Chr19:10140197 [GRCh38] Chr19:10250873 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1106G>T (p.Cys369Phe) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447418] |
Chr19:10159906 [GRCh38] Chr19:10270582 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4773+57C>T |
single nucleotide variant |
not provided [RCV003423327] |
Chr19:10135679 [GRCh38] Chr19:10246355 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.3140C>T (p.Thr1047Ile) |
single nucleotide variant |
not provided [RCV003406843] |
Chr19:10142197 [GRCh38] Chr19:10252873 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.4881G>A (p.Glu1627=) |
single nucleotide variant |
not provided [RCV003423325] |
Chr19:10133685 [GRCh38] Chr19:10244361 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.4773+72G>A |
single nucleotide variant |
not provided [RCV003423326] |
Chr19:10135664 [GRCh38] Chr19:10246340 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.2729T>C (p.Val910Ala) |
single nucleotide variant |
DNMT1-related condition [RCV003414477] |
Chr19:10146516 [GRCh38] Chr19:10257192 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1640T>A (p.Ile547Asn) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447421] |
Chr19:10154909 [GRCh38] Chr19:10265585 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1786T>C (p.Cys596Arg) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447423] |
Chr19:10154632 [GRCh38] Chr19:10265308 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.1008+7G>T |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003878356] |
Chr19:10162660 [GRCh38] Chr19:10273336 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001130823.3(DNMT1):c.683G>A (p.Arg228Gln) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003878604] |
Chr19:10173871 [GRCh38] Chr19:10284547 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001130823.3(DNMT1):c.208A>G (p.Lys70Glu) |
single nucleotide variant |
Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003880013] |
Chr19:10180795 [GRCh38] Chr19:10291471 [GRCh37] Chr19:19p13.2 |
uncertain significance |