"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FOXE1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435238	NM_004473.4(FOXE1):c.285A>G (p.Lys95=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 770583	NM_004473.4(FOXE1):c.471C>T (p.Tyr157=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786913	NM_004473.4(FOXE1):c.569C>G (p.Pro190Arg)	FOXE1 (P190R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718915	NM_004473.4(FOXE1):c.759C>G (p.Gly253=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719683	NM_004473.4(FOXE1):c.1038C>T (p.Leu346=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 1459792	NC_000009.11:g.(?_100190748)_(103062956_?)del	ALG2, ANKS6 +22 more	Deletion	Nephronophthisis	GPathogenic
Select item 832760	NC_000009.12:g.(?_97428446)_(98796511_?)dup	ANKS6, ANP32B +13 more	Duplication	Epileptic encephalopathy	GUncertain significance

ClinVar