"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KMT2A"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1566281	NM_001197104.2(KMT2A):c.135G>A (p.Pro45=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1019110	NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del)	KMT2A (A67del)	Microsatellite (inframe_deletion)	Wiedemann-Steiner syndrome +1 more	GLikely benign
Select item 1400455	NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn)	KMT2A (S867N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 728010	NM_001197104.2(KMT2A):c.3635-7C>T	KMT2A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1165718	NM_001197104.2(KMT2A):c.4218+20A>G	KMT2A	Single nucleotide variant (intron variant)	Wiedemann-Steiner syndrome +1 more	GBenign/Likely benign
Select item 715025	NM_001197104.2(KMT2A):c.4326T>C (p.His1442=)	KMT2A	Single nucleotide variant (synonymous variant)	Wiedemann-Steiner syndrome +2 more	GBenign/Likely benign
Select item 1328700	NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=)	KMT2A	Single nucleotide variant (synonymous variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1633088	NM_001197104.2(KMT2A):c.6158+9C>T	KMT2A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 158706	NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln)	KMT2A (R2191Q +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +3 more	GBenign/Likely benign
Select item 1254341	NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=)	KMT2A	Single nucleotide variant (synonymous variant)	Wiedemann-Steiner syndrome +2 more	GBenign/Likely benign
Select item 778562	NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 158709	NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)	KMT2A (R2699* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1651819	NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=)	KMT2A	Single nucleotide variant (synonymous variant)	Wiedemann-Steiner syndrome +1 more	GLikely benign
Select item 715026	NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=)	KMT2A	Single nucleotide variant (synonymous variant)	Wiedemann-Steiner syndrome +2 more	GBenign/Likely benign
Select item 1671442	NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 445858	NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser)	KMT2A (G3131S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1098102	NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val)	KMT2A (A3313V +1 more)	Single nucleotide variant (missense variant)	KMT2A-related disorder +2 more	GLikely benign
Select item 778563	NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=)	KMT2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign