"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CEP170B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787955	NM_001112726.3(CEP170B):c.439A>C (p.Arg147=)	CEP170B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781153	NM_001112726.3(CEP170B):c.776C>T (p.Ala259Val)	CEP170B (A189V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2426765	NC_000014.8:g.(?_105167703)_(105861009_?)del	ADSS1, AHNAK2 +14 more	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	MOK, NUDT14 +47 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	ZFYVE21, ZNF839 +47 more	Duplication	not provided	GUncertain significance
Select item 831735	NC_000014.9:g.(?_104677659)_(104957672_?)del	ADSS1, AHNAK2 +6 more	Deletion	not provided	GPathogenic

ClinVar