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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1
(R309H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GPathogenic/Likely pathogenic
DYNC1H1
(R569P)
Single nucleotide variant
(missense variant)
Lissencephaly
+1 more
GPathogenic/Likely pathogenic
DYNC1H1
(R1603T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GUncertain significance
DYNC1H1
(R1623Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GPathogenic/Likely pathogenic
DYNC1H1
(R3344Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GPathogenic
DYNC1H1
(R3728P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GLikely pathogenic
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