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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNB1
(D39del)
Deletion
(inframe_deletion)
Congenital myasthenic syndrome 2A
+1 more
GUncertain significance
CHRNB1
(V77M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNB1
(V77L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 2A
+2 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
CHRNB1
(V289M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
+1 more
GPathogenic
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 2A
+3 more
GBenign/Likely benign
CHRNB1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
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