ClinVar for MedGen (Select 1804653) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255523	NM_018928.3(PCDHGC4):c.194_195del (p.Gln65fs)	PCDHG@, PCDHGA1 +20 more (Q65fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic
Select item 3242560	NM_018928.3(PCDHGC4):c.549del (p.Lys184fs)	PCDHG@, PCDHGA1 +20 more (K184fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 1802232	NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs)	PCDHG@, PCDHGA1 +20 more (L228fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic
Select item 1693119	NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter)	PCDHG@, PCDHGA1 +20 more (K714*)	Duplication (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GLikely pathogenic
Select item 1687022	NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter)	PCDHG@, PCDHGA1 +20 more (R415*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 1687021	NM_018928.3(PCDHGC4):c.324del (p.Phe108fs)	PCDHG@, PCDHGA1 +20 more (F108fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 1687020	NM_018928.3(PCDHGC4):c.1463C>T (p.Ala488Val)	PCDHG@, PCDHGA1 +20 more (A488V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1687019	NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter)	PCDHG@, PCDHGA1 +20 more (Q40*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic
Select item 1687018	NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu)	PCDHGA3, PCDHGA4 +20 more (D483E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with poor growth and skeletal anomalies	GPathogenic