ClinVar (all) for Orgtrack (Select 509770) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376547	NM_182931.3(KMT2E):c.1624_1625del (p.Glu542fs)	KMT2E (E542fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376546	NM_182931.3(KMT2E):c.1624G>T (p.Glu542Ter)	KMT2E (E542*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376545	NM_182931.3(KMT2E):c.923del (p.Gly308fs)	KMT2E (G308fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376544	NM_182931.3(KMT2E):c.71+1G>C	KMT2E	Single nucleotide variant (splice donor variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 3376543	NC_000007.14:g.(?_104599208)_(104870573_?)del	LHFPL3, LHFPL3-AS1	Deletion	O'Donnell-Luria-Rodan syndrome	GPathogenic
Select item 1801704	NM_182931.3(KMT2E):c.2881_2882del (p.Lys961fs)	KMT2E (K961fs)	Deletion (frameshift variant)	Global developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 805910	NM_182931.3(KMT2E):c.3527_3530del (p.Thr1176fs)	KMT2E (T1176fs)	Deletion (frameshift variant)	See cases +1 more	GConflicting classifications of pathogenicity

ClinVar