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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+6 more
GBenign
DYNC1H1
(R251H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
(R264Q)
Single nucleotide variant
(missense variant)
DYNC1H1-related neurological disorders
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
(R598C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
DYNC1H1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
DYNC1H1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia
+6 more
GBenign/Likely benign
DYNC1H1
(S1783G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DYNC1H1
(R2398C)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
(K2401N)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia
+7 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia
+6 more
GConflicting classifications of pathogenicity
LOC126862060, DYNC1H1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DYNC1H1, LOC126862060
(E3048K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GConflicting classifications of pathogenicity
LOC126862060, DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
(T3981R)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia
+8 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
DYNC1H1
(E4503D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
DYNC1H1-related condition
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+5 more
GBenign/Likely benign
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