C5394241[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 677175	NM_002340.6(LSS):c.1924T>G (p.Leu642Val)	LSS (L631V +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 677174	NM_002340.6(LSS):c.864G>C (p.Pro288=)	LSS	Single nucleotide variant (synonymous variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 677173	NM_002340.6(LSS):c.784-6C>T	LSS	Single nucleotide variant (intron variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 677172	NM_002340.6(LSS):c.551-6G>C	LSS	Single nucleotide variant (genic upstream transcript variant +1 more)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 1098866	NM_002340.6(LSS):c.429-1G>A	LSS	Single nucleotide variant (splice acceptor variant)	Alopecia-intellectual disability syndrome 4	GLikely pathogenic
Select item 1287852	NM_002340.6(LSS):c.181-16_181-15del	LSS	Deletion (intron variant)	Cataract 44 +2 more	GBenign

ClinVar