ClinVar for MedGen (Select 905078) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921139	NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)	IKZF1 (L159R +11 more)	Single nucleotide variant (missense variant)	Pancytopenia due to IKZF1 mutations	GUncertain significance
Select item 2444881	NM_006060.6(IKZF1):c.880G>C (p.Asp294His)	IKZF1 (D109H +11 more)	Single nucleotide variant (missense variant)	Pancytopenia due to IKZF1 mutations	GUncertain significance
Select item 2444367	NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)	IKZF1 (L196fs +10 more)	Duplication (frameshift variant)	Pancytopenia due to IKZF1 mutations	GLikely pathogenic
Select item 2432839	NM_006060.6(IKZF1):c.589+1G>A	IKZF1	Single nucleotide variant (splice donor variant +1 more)	Pancytopenia due to IKZF1 mutations	GUncertain significance
Select item 2030696	NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)	IKZF1 (H167Y +2 more)	Single nucleotide variant (missense variant +1 more)	Pancytopenia due to IKZF1 mutations +1 more	GConflicting classifications of pathogenicity
Select item 1683635	NM_006060.6(IKZF1):c.369G>A (p.Gly123=)	IKZF1	Single nucleotide variant (synonymous variant +1 more)	Pancytopenia due to IKZF1 mutations +1 more	GUncertain significance
Select item 1342336	NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu)	IKZF1 (P129L +10 more)	Single nucleotide variant (missense variant)	Pancytopenia due to IKZF1 mutations	GUncertain significance
Select item 1320280	NM_006060.6(IKZF1):c.1047G>C (p.Gln349His)	IKZF1 (Q119H +10 more)	Single nucleotide variant (missense variant)	Pancytopenia due to IKZF1 mutations +1 more	GUncertain significance
Select item 1299710	NM_006060.6(IKZF1):c.161-8198A>G	IKZF1 (R164G)	Single nucleotide variant (missense variant +1 more)	Pancytopenia due to IKZF1 mutations +1 more	GBenign
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 1270220	NM_006060.6(IKZF1):c.1002C>A (p.Pro334=)	IKZF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1032403	NM_006060.6(IKZF1):c.715+167C>T	IKZF1	Single nucleotide variant (intron variant)	Pancytopenia due to IKZF1 mutations	GUncertain significance
Select item 996848	NM_006060.6(IKZF1):c.161-15019A>G	IKZF1	Single nucleotide variant (intron variant)	Pancytopenia due to IKZF1 mutations	GUncertain significance
Select item 977104	NM_006060.6(IKZF1):c.548G>A (p.Arg183His)	IKZF1 (R183H +1 more)	Single nucleotide variant (missense variant +1 more)	Pancytopenia due to IKZF1 mutations +1 more	GConflicting classifications of pathogenicity
Select item 827709	NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser)	IKZF1 (N159S +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases +1 more	GPathogenic
Select item 811017	NM_006060.6(IKZF1):c.161-8328C>A	IKZF1	Single nucleotide variant (synonymous variant +1 more)	IKZF1-related condition +1 more	GBenign
Select item 692112	NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter)	IKZF1 (C182* +1 more)	Single nucleotide variant (nonsense +1 more)	Pancytopenia due to IKZF1 mutations	GPathogenic
Select item 548932	NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn)	IKZF1 (D22N)	Single nucleotide variant (missense variant)	Pancytopenia due to IKZF1 mutations +1 more	GConflicting classifications of pathogenicity
Select item 548705	NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr)	IKZF1 (A272T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 428611	NM_006060.6(IKZF1):c.584A>G (p.His195Arg)	IKZF1 (H108R +1 more)	Single nucleotide variant (missense variant +1 more)	Pancytopenia due to IKZF1 mutations	GPathogenic
Select item 423249	NM_006060.6(IKZF1):c.825G>A (p.Lys275=)	IKZF1	Single nucleotide variant (synonymous variant +1 more)	Pancytopenia due to IKZF1 mutations +1 more	GConflicting classifications of pathogenicity
Select item 224782	NM_006060.5(IKZF1):c.161-8388_589+2308del	IKZF1	Deletion	Pancytopenia due to IKZF1 mutations	GPathogenic
Select item 224781	NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)	IKZF1 (R184Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224780	NM_006060.6(IKZF1):c.500A>G (p.His167Arg)	IKZF1 (H167R +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 224779	NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln)	IKZF1 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 224778	NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu)	IKZF1 (R162L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 224777	NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys)	IKZF1 (Y210C +2 more)	Single nucleotide variant (missense variant +1 more)	Pancytopenia due to IKZF1 mutations	GPathogenic

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Items: 27