ClinVar for MedGen (Select 1376945) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256555	NM_002709.3(PPP1CB):c.493G>A (p.Asp165Asn)	PPP1CB (D165N)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2	GLikely pathogenic
Select item 1727054	NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)	PPP1CB (D165H)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2	GLikely pathogenic
Select item 1328162	NM_002709.3(PPP1CB):c.434T>A (p.Ile145Asn)	PPP1CB (I145N)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2	GUncertain significance
Select item 974912	NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)	PPP1CB (M182K)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2 +1 more	GConflicting classifications of pathogenicity
Select item 747303	NM_002709.3(PPP1CB):c.53-9G>A	PPP1CB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 667025	NM_002709.3(PPP1CB):c.201A>G (p.Gln67=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 449872	NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)	PPP1CB (R220C)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2 +1 more	GPathogenic/Likely pathogenic
Select item 427633	NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)	PPP1CB (A56P)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 254653	NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)	PPP1CB (E274K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 254652	NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)	PPP1CB (E183A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 254651	NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)	PPP1CB (E183V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 254648	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB (P49R)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database