ClinVar for MedGen (Select 1376945) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17270541.	NM_002709.3(PPP1CB):c.493G>C (p.Asp165His) GRCh37: Chr2:29004681 GRCh38: Chr2:28781815	PPP1CB	D165H	Noonan syndrome-like disorder with loose anagen hair 2	Likely pathogenic (Nov 18, 2022)	criteria provided, single submitter
Select item 13281622.	NM_002709.3(PPP1CB):c.434T>A (p.Ile145Asn) GRCh37: Chr2:29004622 GRCh38: Chr2:28781756	PPP1CB	I145N	Noonan syndrome-like disorder with loose anagen hair 2	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 9749123.	NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys) GRCh37: Chr2:29006797 GRCh38: Chr2:28783931	PPP1CB	M182K	Noonan syndrome-like disorder with loose anagen hair 2, not provided	Conflicting interpretations of pathogenicity (Jan 7, 2022)	criteria provided, conflicting interpretations
Select item 7473034.	NM_002709.3(PPP1CB):c.53-9G>A GRCh37: Chr2:28999708 GRCh38: Chr2:28776842	PPP1CB		Noonan syndrome-like disorder with loose anagen hair 2, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6670255.	NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) GRCh37: Chr2:29001691 GRCh38: Chr2:28778825	PPP1CB		Noonan syndrome-like disorder with loose anagen hair 2, not specified, Cardiovascular phenotype, not provided	Benign (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4498726.	NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys) GRCh37: Chr2:29011589 GRCh38: Chr2:28788723	PPP1CB	R220C	Noonan syndrome-like disorder with loose anagen hair 2, not provided	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4276337.	NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro) GRCh37: Chr2:28999830 GRCh38: Chr2:28776964	PPP1CB	A56P	Noonan syndrome-like disorder with loose anagen hair 2	Pathogenic (May 31, 2017)	no assertion criteria provided
Select item 2546538.	NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) GRCh37: Chr2:29016804 GRCh38: Chr2:28793938	PPP1CB	E274K	Noonan syndrome-like disorder with loose anagen hair 2	Pathogenic (May 31, 2017)	no assertion criteria provided
Select item 2546529.	NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) GRCh37: Chr2:29006800 GRCh38: Chr2:28783934	PPP1CB	E183A	Inborn genetic diseases, not provided	Pathogenic (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25465110.	NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val) GRCh37: Chr2:29006800 GRCh38: Chr2:28783934	PPP1CB	E183V	not provided	Pathogenic (Sep 8, 2016)	criteria provided, single submitter
Select item 25464811.	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) GRCh37: Chr2:28999810 GRCh38: Chr2:28776944	PPP1CB	P49R	Noonan syndrome-like disorder with loose anagen hair 2, Inborn genetic diseases, not provided, Neurodevelopmental delay	Pathogenic (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts