C4540474[trait identifier] AND "New York Genome Center"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098593	NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser)	KMT5B (P565S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1341781	NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr)	KMT5B (A452T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1342624	NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr)	KMT5B (S157Y +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2584616	NM_017635.5(KMT5B):c.1174+1575C>G	KMT5B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 802695	NM_017635.5(KMT5B):c.668_672del (p.Lys223fs)	KMT5B (K152fs +3 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1341932	NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn)	KMT5B (D19N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GUncertain significance

ClinVar