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Links from MedGen

Items: 1 to 100 of 1147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(C41R)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(P196R +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(I1249L +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(I183V +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(R1461W +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC130063472
(S19P)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(A282F +2 more)
Indel
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Duplication
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC130063472
Single nucleotide variant
(synonymous variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(R1276S +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(D416N +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Duplication
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC107080555
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(P1069L +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(A147S +1 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(I1014M +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(R19K +1 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(G366R +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC107080555
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(P734T +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Deletion
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
DNMT1
(T182N +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(Y746F +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(I372M +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(S1005G +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(G1094V +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(F410I +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(D811Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(A189T +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Indel
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(S732C +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(P175A +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC130063472
(P7A)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(C896R +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(N203D +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(R490fs +2 more)
Microsatellite
(frameshift variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(L1472F +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(N111I)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(S735C +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(A282T +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(T168R +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Deletion
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(D197N +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(P153S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
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