C4085873[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 542247	NM_014159.7(SETD2):c.3897C>T (p.Tyr1299=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome	GLikely benign
Select item 1115128	NM_014159.7(SETD2):c.2997A>G (p.Val999=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GLikely benign
Select item 574593	NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)	SETD2 (G940V +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GConflicting classifications of pathogenicity
Select item 135211	NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)	SETD2 (N719D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 542227	NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)	SETD2 (K629E +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GConflicting classifications of pathogenicity
Select item 580050	NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)	SETD2 (R472C +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 841457	NM_014159.7(SETD2):c.29C>T (p.Pro10Leu)	LOC129936665, SETD2 (P10L)	Single nucleotide variant (5 prime UTR variant +2 more)	Luscan-Lumish syndrome	GUncertain significance

ClinVar