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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
(K228N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GUncertain significance
DYNC1H1
(G950V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYNC1H1
(S1207F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYNC1H1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
DYNC1H1
(E1617D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
(V1750M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DYNC1H1
(A1765T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GConflicting classifications of pathogenicity
DYNC1H1
(R2398H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DYNC1H1
(E2640K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+4 more
GConflicting classifications of pathogenicity
DYNC1H1
(A2754T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYNC1H1
(A2951T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYNC1H1
(D3439N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GUncertain significance
DYNC1H1
(R4178C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYNC1H1
(A4215G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYNC1H1
(V4402L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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