C4310702[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1260154	NM_004722.4(AP4M1):c.*322A>G	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 712377	NM_139315.3(TAF6):c.1904C>T (p.Pro635Leu)	AP4M1, TAF6 (P672L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1242601	NM_139315.3(TAF6):c.1159-16T>C	TAF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224658	NM_139315.3(TAF6):c.455-45dup	TAF6	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1248299	NM_139315.3(TAF6):c.398-12C>T	TAF6	Single nucleotide variant (intron variant)	Alazami-Yuan syndrome +1 more	GBenign
Select item 1262650	NM_139315.3(TAF6):c.243+29del	TAF6	Deletion (intron variant)	not provided +1 more	GBenign

ClinVar