"Invitae"[submitter] AND "LOC126805711"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701101	NM_001394062.1(MACF1):c.11994A>G (p.Gln3998=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign/Likely benign
Select item 2702117	NM_001394062.1(MACF1):c.12043G>A (p.Ala4015Thr)	LOC126805711, MACF1 (A1953T +1 more)	Single nucleotide variant (missense variant)	MACF1-related condition +1 more	GBenign/Likely benign
Select item 2193839	NM_001394062.1(MACF1):c.12076G>T (p.Ala4026Ser)	LOC126805711, MACF1 (A4026S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1978318	NM_001394062.1(MACF1):c.12113C>T (p.Thr4038Ile)	LOC126805711, MACF1 (T1976I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970943	NM_001394062.1(MACF1):c.12121-12A>G	LOC126805711, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2118131	NM_001394062.1(MACF1):c.12177A>G (p.Val4059=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198477	NM_001394062.1(MACF1):c.12207G>A (p.Glu4069=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064190	NM_001394062.1(MACF1):c.12238A>G (p.Thr4080Ala)	LOC126805711, MACF1 (T2018A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar