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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP1CB
(D165H)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
GLikely pathogenic
PPP1CB
(I145N)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
GUncertain significance
PPP1CB
(M182K)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
+1 more
GConflicting classifications of pathogenicity
PPP1CB
Single nucleotide variant
(intron variant)
Noonan syndrome-like disorder with loose anagen hair 2
+2 more
GBenign/Likely benign
PPP1CB
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PPP1CB
(R220C)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
+1 more
GPathogenic/Likely pathogenic
PPP1CB
(A56P)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
GPathogenic
PPP1CB
(E274K)
Single nucleotide variant
(missense variant)
PPP1CB-related condition
+1 more
GConflicting classifications of pathogenicity
PPP1CB
(E183A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
PPP1CB
(E183V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PPP1CB
(P49R)
Single nucleotide variant
(missense variant)
Noonan syndrome-like disorder with loose anagen hair 2
+3 more
GPathogenic
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