"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158711	NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly)	KMT2A (A30G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 252562	NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val)	KMT2A (A53V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 211313	NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys)	KMT2A (E502K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 445356	NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp)	KMT2A (G909D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 376864	NM_001197104.2(KMT2A):c.2982_2984del (p.Ser997del)	KMT2A (S997del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 376843	NM_001197104.2(KMT2A):c.6521C>T (p.Thr2174Ile)	KMT2A (T2174I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377261	NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs)	KMT2A (E2554fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 377050	NM_001197104.2(KMT2A):c.10474G>A (p.Ala3492Thr)	KMT2A (A3492T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 445956	NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro)	KMT2A (L3617P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 376783	NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter)	KMT2A, TTC36-AS1 (R3744* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 445628	NM_001197104.2(KMT2A):c.11317C>T (p.Leu3773Phe)	KMT2A, TTC36-AS1 (L3773F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance