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Items: 1 to 100 of 1413

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
PPAN, PPAN-P2RY11
+184 more
Copy number loss
See cases
GPathogenic
DNMT1
Single nucleotide variant
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
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
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GConflicting classifications of pathogenicity
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Dementia, Deafness, and Sensory Neuropathy
GUncertain significance
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(D1511E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNMT1
(D1511G +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(D1632H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DNMT1
(K1510E +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNMT1
(E1507D +3 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
+1 more
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
DNMT1
(E1626K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DNMT1
(K1623E +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNMT1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNMT1
Single nucleotide variant
(intron variant)
not provided
GBenign
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
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNMT1
(S1498R +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(S1603N +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(R1496Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(R1604* +3 more)
Single nucleotide variant
(nonsense)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(K1602N +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(A1598fs +3 more)
Duplication
(frameshift variant)
Inborn genetic diseases
GUncertain significance
DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1
(L1489F +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1
(E1607K +3 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
(L1600R +3 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
(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
GLikely benign
DNMT1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
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, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
+1 more
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
(I1569T +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
(F1461L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNMT1, LOC126862853
(L1581F +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC126862853
(R1580Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DNMT1, LOC126862853
(T1457S +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
(R1446Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
LOC126862853, DNMT1
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
(R1441H +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC126862853
(H1545Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
(V1434M +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous 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, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Deletion
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GUncertain significance
LOC126862853, DNMT1
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign/Likely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126862853, DNMT1
Duplication
(intron variant)
not provided
GLikely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GBenign
LOC126862853, DNMT1
Single nucleotide variant
(intron variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GBenign/Likely benign
DNMT1, LOC126862853
Single nucleotide variant
(intron variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
LOC126862853, DNMT1
(E1426D +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
GLikely pathogenic
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
Hereditary sensory neuropathy-deafness-dementia syndrome
GLikely benign
DNMT1, LOC126862853
(P1425S +3 more)
Single nucleotide variant
(missense variant)
Spastic ataxia
GLikely pathogenic
DNMT1, LOC126862853
(P1546A +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
+1 more
GUncertain significance
DNMT1, LOC126862853
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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