"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	AK1, BBLN +130 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2024174	NM_004408.4(DNM1):c.2077-16C>T	DNM1, LOC130002697	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 3022283	NM_004408.4(DNM1):c.2077-8A>G	DNM1, LOC130002697	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 2862692	NM_004408.4(DNM1):c.2077-5C>G	DNM1, LOC130002697	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign
Select item 1109004	NM_004408.4(DNM1):c.2082G>A (p.Lys694=)	DNM1, LOC130002697	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 31A	GLikely benign

ClinVar