"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PCDHGB7 - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782099	NM_002588.4(PCDHGC3):c.2178A>G (p.Leu726=)	PCDHG@, PCDHGA1 +19 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776070	NM_018929.3(PCDHGC5):c.1173G>A (p.Pro391=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776071	NM_018929.3(PCDHGC5):c.1407G>A (p.Pro469=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 792014	NM_018929.3(PCDHGC5):c.1965A>G (p.Ser655=)	PCDHGB3, PCDHGB4 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776072	NM_018929.3(PCDHGC5):c.2013T>C (p.Pro671=)	PCDHGB4, PCDHGB6 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 729017	NM_018929.3(PCDHGC5):c.2121C>A (p.Val707=)	PCDHGB7, PCDHGC3 +21 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 739048	NM_018913.3(PCDHGA10):c.2640C>T (p.Ser880=)	PCDHGA10, PCDHGA11 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723584	NM_002588.4(PCDHGC3):c.2646A>G (p.Gly882=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 751089	NM_018913.3(PCDHGA10):c.2673C>T (p.His891=)	PCDHG@, PCDHGA1 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic