C4540395[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1492065	NM_170606.3(KMT2C):c.12194C>T (p.Ala4065Val)	KMT2C (A4065V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 719178	NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=)	KMT2C	Single nucleotide variant (synonymous variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign
Select item 1546160	NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1584575	NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1302323	NM_170606.3(KMT2C):c.6835C>A (p.Pro2279Thr)	KMT2C (P2279T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1379586	NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn)	KMT2C (D1951N)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 134751	NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile)	KMT2C (S1724I)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign
Select item 1588369	NM_170606.3(KMT2C):c.4508-12A>T	KMT2C	Single nucleotide variant (intron variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign
Select item 1651879	NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro)	KMT2C (L901P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign
Select item 1206291	NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu)	KMT2C, LOC123956272 (R380L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GLikely benign
Select item 1597137	NM_170606.3(KMT2C):c.1038G>A (p.Val346=)	KMT2C, LOC123956272	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 134810	NM_170606.3(KMT2C):c.709A>G (p.Ile237Val)	KMT2C (I237V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1601770	NM_170606.3(KMT2C):c.162-7del	KMT2C	Deletion (intron variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign
Select item 1600432	NM_170606.3(KMT2C):c.162-17T>A	KMT2C	Single nucleotide variant (intron variant)	Kleefstra syndrome 2 +1 more	GBenign/Likely benign