"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3773824	NM_001197104.2(KMT2A):c.6248dup (p.Pro2084fs)	KMT2A (P2081fs +2 more)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3773826	NM_001197104.2(KMT2A):c.6469_6470del (p.Gln2157fs)	KMT2A (Q2154fs +2 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2584505	NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)	KMT2A (P2515fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 158709	NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)	KMT2A (R2699* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome +1 more	GPathogenic

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