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Links from MedGen

Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
(D1535N)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GUncertain significance
DYNC1H1
(S4341T)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(R2869L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+2 more
GUncertain significance
DYNC1H1
(P997S)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(A2050P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+2 more
GLikely pathogenic
DYNC1H1
(V1116L)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(R598P)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
(L476P)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
(N199T)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GConflicting classifications of pathogenicity
DYNC1H1
(W1208C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYNC1H1
(F1866Y)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(G1132E)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+1 more
GPathogenic
DYNC1H1
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
(R264P)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+1 more
GLikely pathogenic
DYNC1H1
(H3822Y)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GUncertain significance
DYNC1H1
(F623L)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
(V3951F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GUncertain significance
DYNC1H1
(L1533V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
Duplication
(intron variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GLikely benign
DYNC1H1
(R2797H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GLikely benign
BICD2
(E260*)
Single nucleotide variant
(nonsense)
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
GUncertain significance
DYNC1H1
(Y3183fs)
Duplication
(frameshift variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GLikely pathogenic
DYNC1H1
(F1169fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
DYNC1H1
(R379H)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(E580A)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GPathogenic/Likely pathogenic
DYNC1H1
(G3848D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(V4593I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DYNC1H1
(T2583A)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
(S4241C)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GUncertain significance
DYNC1H1
(T362I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DYNC1H1
(V1705A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYNC1H1
(T4561M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+5 more
GUncertain significance
DYNC1H1
(Y1057C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(T2644I)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GUncertain significance
DYNC1H1
Single nucleotide variant
(intron variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+4 more
GBenign
DYNC1H1
Single nucleotide variant
(intron variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+4 more
GBenign
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GBenign
DYNC1H1
Single nucleotide variant
(intron variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+3 more
GBenign
DYNC1H1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
DYNC1H1
(G3657A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(R399G)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
Single nucleotide variant
(synonymous variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GUncertain significance
DYNC1H1
Single nucleotide variant
(synonymous variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+2 more
GUncertain significance
DYNC1H1
(A4495T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GUncertain significance
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)
Intellectual disability, autosomal dominant 13
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
(V3936M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
(V3203M)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+3 more
GUncertain significance
DYNC1H1
(T606I)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+1 more
GUncertain significance
DYNC1H1
(A3452T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(E4625K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(G4472S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
(R3997W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYNC1H1
Duplication
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GBenign
DYNC1H1
Single nucleotide variant
(synonymous variant)
DYNC1H1-related disorder
+6 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(R1025W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+4 more
GConflicting classifications of pathogenicity
DYNC1H1, LOC126862060
(V3065M)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+2 more
GUncertain significance
DYNC1H1
(T1722M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GUncertain significance
DYNC1H1
(T1268M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DYNC1H1
(K4111R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GUncertain significance
DYNC1H1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GLikely benign
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
DYNC1H1
(L3508I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
+5 more
GConflicting classifications of pathogenicity
DYNC1H1
(R251C)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
DYNC1H1
(R1962H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GLikely pathogenic
DYNC1H1
(P776L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GPathogenic
DYNC1H1
Single nucleotide variant
(synonymous variant)
DYNC1H1-related disorder
+7 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(synonymous variant)
not provided
+7 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
(V1504I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+5 more
GConflicting classifications of pathogenicity
DYNC1H1
(A2380T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(R1962C)
Single nucleotide variant
(missense variant)
DYNC1H1-related neurodevelopmental disorders
+2 more
GPathogenic
DYNC1H1
(R2488H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
DYNC1H1
(D1991N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2O
+8 more
GBenign/Likely benign
DYNC1H1
(E2640K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+7 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
DYNC1H1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
DYNC1H1
(E580K)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
GLikely pathogenic
DYNC1H1
(T3981R)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia
+8 more
GBenign/Likely benign
DYNC1H1
(R251H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
(R1201S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DYNC1H1
(R598C)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+5 more
GPathogenic/Likely pathogenic
DYNC1H1, LOC126862060
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia
+6 more
GBenign
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
GBenign
DYNC1H1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
DYNC1H1
Single nucleotide variant
(synonymous variant)
Autosomal dominant cerebellar ataxia
+6 more
GBenign
DYNC1H1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+7 more
GBenign
DYNC1H1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign
DYNC1H1, LOC130056502
(Y970C)
Single nucleotide variant
(missense variant)
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
+1 more
GConflicting classifications of pathogenicity
DYNC1H1
(K671E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
DYNC1H1
(I584L)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
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