"Genome-Nilou Lab"[submitter] AND "SEC31A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332930	NM_001077207.4(SEC31A):c.2503-29C>A	SEC31A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 1332931	NM_001077207.4(SEC31A):c.2154+36G>C	SEC31A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 1332932	NM_001077207.4(SEC31A):c.1045-26G>T	SEC31A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 1332933	NM_001077207.4(SEC31A):c.1008T>A (p.Gly336=)	SEC31A	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 1332934	NM_001077207.4(SEC31A):c.640-4T>G	SEC31A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1332935	NM_001077207.4(SEC31A):c.597A>G (p.Arg199=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar