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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862853, DNMT1
(E1426D +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
GLikely pathogenic
DNMT1
(R1258Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GLikely benign
DNMT1
(Q166E +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+2 more
GUncertain significance
DNMT1
(A1037T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+2 more
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GUncertain significance
DNMT1, LOC126862853
(G1482S +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
(A1088V +2 more)
Single nucleotide variant
(missense variant)
Spastic ataxia
+1 more
GConflicting classifications of pathogenicity
DNMT1
(S183R +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
(L487R +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
GLikely pathogenic
DNMT1
(E1014D +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
GUncertain significance
DNMT1
(R853C +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GUncertain significance
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GUncertain significance
DNMT1
(R192W +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+2 more
GConflicting classifications of pathogenicity
DNMT1
(N935S +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
(M1312T +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
GLikely pathogenic
DNMT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GBenign/Likely benign
DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+2 more
GBenign
DNMT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
DNMT1
(K284Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GUncertain significance
DNMT1
(D217G +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
(V286A +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DNMT1
(P232L +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GUncertain significance
DNMT1, LOC126862853
(P1546A +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
(P128S +1 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+2 more
GConflicting classifications of pathogenicity
DNMT1
(V1495M +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GConflicting classifications of pathogenicity
DNMT1
(V1088I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DNMT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GLikely benign
DNMT1
Deletion
(intron variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+3 more
GBenign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+2 more
GBenign/Likely benign
DNMT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DNMT1
Single nucleotide variant
(intron variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+3 more
GBenign
DNMT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+3 more
GBenign
DNMT1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DNMT1
(T772N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DNMT1
(H1118R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DNMT1
(A1334V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DNMT1
(G244E +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+4 more
GBenign/Likely benign
DNMT1
(G605A +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
GLikely pathogenic
DNMT1
(A570V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
DNMT1
(V606F +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GConflicting classifications of pathogenicity
DNMT1
(Y495C +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+2 more
GPathogenic/Likely pathogenic
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