C1854630[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709876	NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile)	KMT2A (M690I)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1709079	NM_001197104.2(KMT2A):c.6320-1G>A	KMT2A	Single nucleotide variant (splice acceptor variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 37074	NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)	KMT2A (R2382* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1708967	NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg)	KMT2A (C2479R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1709459	NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs)	KMT2A (I2645fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1709299	NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His)	KMT2A, TTC36-AS1 (R3786H +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GUncertain significance

ClinVar