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Links from MedGen

Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HINT1
(Y94C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
(S64fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Deletion
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(R119G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(V54L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(C84Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(E100G)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(P13R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Deletion
(splice acceptor variant)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely pathogenic
HINT1
(G93V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely pathogenic
HINT1
Single nucleotide variant
(intron variant)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Microsatellite
(intron variant)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Deletion
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely pathogenic
HINT1
(W123*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(L53fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(L88M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(D35Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(P28T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(K21E)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(I63T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(I31T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GUncertain significance
HINT1
(G101D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(I5L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Deletion
(nonsense +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(intron variant)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
Deletion
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
Deletion
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(R95*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(E71K)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(G126fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(I18M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(F33fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(P56L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(K25Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(A40G)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(R119W)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GConflicting classifications of pathogenicity
HINT1
(V111I)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(P46S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(P46H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(R24L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
HINT1
(S72R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(K82M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(I63N)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GUncertain significance
HINT1
(A48T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(R37Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(V98M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(T50P)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GUncertain significance
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely benign
HINT1
(G20E)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GUncertain significance
HINT1
(R95Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GConflicting classifications of pathogenicity
HINT1
Single nucleotide variant
(synonymous variant +1 more)
HINT1-related disorder
+1 more
GBenign/Likely benign
HINT1
(G81V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Single nucleotide variant
(intron variant)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Deletion
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(V111fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
Duplication
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(M1T)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(W123*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(Q106*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
HINT1
(I27M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(G93C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
(C38R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely pathogenic
HINT1
(V97M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GLikely pathogenic
HINT1
Deletion
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GUncertain significance
HINT1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
HINT1
Insertion
(non-coding transcript variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GBenign/Likely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
HINT1
(H122L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HINT1
(T50A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HINT1
Microsatellite
(intron variant)
not specified
+1 more
GLikely benign
HINT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GBenign
HINT1
(D68V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
HINT1
(G93D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
+1 more
GPathogenic/Likely pathogenic
HINT1
(Q62*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
HINT1
(H51R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(H112N)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(G89V)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GPathogenic/Likely pathogenic
HINT1
(C84R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive axonal neuropathy with neuromyotonia
GPathogenic
HINT1
(R37P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
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