"Genomic Diagnostics Laboratory, National Institute of Medical Genomic - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1977663	NM_006060.6(IKZF1):c.26T>C (p.Met9Thr)	IKZF1 (M9T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342126	NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter)	IKZF1 (R83*)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia +1 more	GPathogenic
Select item 2580255	NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)	IKZF1 (K111* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580259	NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)	IKZF1 (P113fs +1 more)	Insertion (frameshift variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580256	NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)	IKZF1 (Q146fs +2 more)	Indel (intron variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580258	NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)	IKZF1 (C150* +2 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580254	NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)	IKZF1 (N159Y +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 1285540	NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)	IKZF1 (L177P +1 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia +1 more	GLikely pathogenic
Select item 2580260	NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter)	IKZF1 (R281* +11 more)	Single nucleotide variant (nonsense)	Acute lymphoid leukemia	GUncertain significance