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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT1, LOC126862853
(P1546A +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1
(F1146S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNMT1
(V286A +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+3 more
GUncertain significance
DNMT1
(K176R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DNMT1
(E51K)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GConflicting classifications of pathogenicity
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