"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ZC3H18" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782142	NM_144604.4(ZC3H18):c.102C>T (p.Ser34=)	ZC3H18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713960	NM_144604.4(ZC3H18):c.196C>T (p.His66Tyr)	ZC3H18 (H66Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ZNF469, ZNF778 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Fanconi anemia +2 more	GUncertain significance

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