"ITMI"[submitter] AND "LOC126861520"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134674	NM_003482.4(KMT2D):c.3993_3995del (p.Thr1332del)	LOC126861520, KMT2D (T1332del)	Deletion (inframe_deletion)	not specified	Gnot provided
Select item 134671	NM_003482.4(KMT2D):c.3902A>G (p.Lys1301Arg)	KMT2D, LOC126861520 (K1301R)	Single nucleotide variant (missense variant)	Kabuki syndrome	GUncertain significance
Select item 134673	NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)	KMT2D, LOC126861520 (P1191L)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign

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