"Ambry Genetics"[submitter] AND "IKZF3"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2267516	NM_012481.5(IKZF3):c.1297A>G (p.Ile433Val)	IKZF3 (I251V +12 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614318	NM_012481.5(IKZF3):c.1282C>T (p.Leu428Phe)	IKZF3 (L181F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262930	NM_012481.5(IKZF3):c.1187G>A (p.Arg396His)	IKZF3 (R262H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233752	NM_012481.5(IKZF3):c.1148G>C (p.Gly383Ala)	IKZF3 (G136A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109035	NM_012481.5(IKZF3):c.1078G>A (p.Glu360Lys)	IKZF3 (E326K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109034	NM_012481.5(IKZF3):c.1075C>G (p.Leu359Val)	IKZF3 (L281V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109032	NM_012481.5(IKZF3):c.1043G>A (p.Arg348Gln)	IKZF3 (R127Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285714	NM_012481.5(IKZF3):c.980C>T (p.Pro327Leu)	IKZF3 (P271L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299419	NM_012481.5(IKZF3):c.909G>T (p.Met303Ile)	IKZF3 (M225I +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286141	NM_012481.5(IKZF3):c.836G>A (p.Arg279His)	IKZF3 (R240H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376724	NM_012481.5(IKZF3):c.673C>T (p.Arg225Cys)	IKZF3 (R191C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487399	NM_012481.5(IKZF3):c.662A>G (p.Lys221Arg)	IKZF3 (K134R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252350	NM_012481.5(IKZF3):c.413G>A (p.Arg138Gln)	IKZF3 (R138Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313978	NM_012481.5(IKZF3):c.316G>A (p.Val106Ile)	IKZF3 (V106I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469536	NM_012481.5(IKZF3):c.296T>A (p.Ile99Asn)	IKZF3 (I99N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330089	NM_012481.5(IKZF3):c.276A>C (p.Glu92Asp)	IKZF3 (E92D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109037	NM_012481.5(IKZF3):c.244G>A (p.Glu82Lys)	IKZF3, LOC130060781 (E48K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3068437	NM_012481.5(IKZF3):c.229A>T (p.Met77Leu)	IKZF3, LOC130060781 (M43L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287727	NM_012481.5(IKZF3):c.229A>G (p.Met77Val)	IKZF3, LOC130060781 (M77V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556166	NM_012481.5(IKZF3):c.227C>T (p.Pro76Leu)	IKZF3, LOC130060781 (P42L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109036	NM_012481.5(IKZF3):c.157A>G (p.Ile53Val)	IKZF3 (I53V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109033	NM_012481.5(IKZF3):c.104A>G (p.His35Arg)	IKZF3 (H35R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469548	NM_012481.5(IKZF3):c.73G>C (p.Val25Leu)	IKZF3 (V25L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285715	NM_012481.5(IKZF3):c.58G>C (p.Ala20Pro)	IKZF3 (A20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 24