"OMIM"[submitter] AND "SETD2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222953	NM_014159.7(SETD2):c.6341del (p.Asn2114fs)	SETD2 (N2070fs +1 more)	Deletion (frameshift variant +1 more)	Luscan-Lumish syndrome	GPathogenic
Select item 222954	NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp)	SETD2 (L1815W +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GPathogenic
Select item 1338780	NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln)	SETD2 (R1696Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 388568	NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	SETD2 (R1740W +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 222956	NM_014159.7(SETD2):c.2028del (p.Pro677fs)	SETD2 (P633fs +1 more)	Deletion (frameshift variant +1 more)	Luscan-Lumish syndrome	GPathogenic
Select item 222955	NM_014159.7(SETD2):c.820C>T (p.Gln274Ter)	SETD2 (Q274* +1 more)	Single nucleotide variant (nonsense +1 more)	Luscan-Lumish syndrome	GPathogenic

ClinVar