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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRM3
Single nucleotide variant
(intron variant)
Prune belly syndrome
GUncertain significance
CHRM3
(G118R)
Single nucleotide variant
(missense variant)
Prune belly syndrome
GPathogenic
FLNA
(G2228V +1 more)
Single nucleotide variant
(missense variant)
Prune belly syndrome
GLikely pathogenic
FLNA
(G2228E +1 more)
Single nucleotide variant
(missense variant)
Prune belly syndrome
GUncertain significance
FLNA
(C2152Y +1 more)
Single nucleotide variant
(missense variant)
Prune belly syndrome
GLikely pathogenic
CHRM3
Single nucleotide variant
(synonymous variant)
Prune belly syndrome
+1 more
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
Prune belly syndrome
+1 more
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LINC00670, LOC125177420
+5 more
Deletion
Prune belly syndrome
+1 more
GPathogenic
MYOCD
(N351fs +1 more)
Deletion
(frameshift variant)
Megabladder, congenital
+1 more
GPathogenic
MYOCD
(R115* +1 more)
Single nucleotide variant
(nonsense)
Megabladder, congenital
+1 more
GPathogenic
MYOCD
(S229fs +3 more)
Duplication
(frameshift variant +1 more)
Prune belly syndrome
GPathogenic
CHRM3
(P392fs)
Indel
(frameshift variant)
Prune belly syndrome
GPathogenic
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