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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFL
(D343del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(N98S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
NEFL
(H25N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(P22S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GPathogenic/Likely pathogenic
CSGALNACT1, SFTPC
+77 more
Copy number gain
Autism
+7 more
GPathogenic
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