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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA3
(C173fs)
Deletion
(frameshift variant +1 more)
Urinary bladder, atony of
GPathogenic
CHRNA3
Single nucleotide variant
(intron variant)
Urinary bladder, atony of
GBenign
CHRNA3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CHRNA3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CHRNA3
(L23del)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GBenign
CHRNA3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CHRNA3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CHRNA3
(Q367*)
Single nucleotide variant
(nonsense +1 more)
Urinary bladder, atony of
+1 more
GLikely pathogenic
CHRNA3
Single nucleotide variant
(splice donor variant)
Urinary bladder, atony of
GPathogenic
CHRNA3
(S340*)
Single nucleotide variant
(nonsense +1 more)
Urinary bladder, atony of
GPathogenic
CHRNA3
(T337fs)
Microsatellite
(frameshift variant +1 more)
Urinary bladder, atony of
GPathogenic
CHRNA3
Single nucleotide variant
(synonymous variant +1 more)
Smoking as a quantitative trait locus 3
+2 more
GLikely benign
CHRNA3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
CHRNA3
Single nucleotide variant
(synonymous variant +1 more)
Smoking as a quantitative trait locus 3
+2 more
GBenign/Likely benign
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