"GeneDx"[submitter] AND "IKZF1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 1235528	NM_001291839.2(IKZF1):c.-15+422G>C	IKZF1, LOC129998437	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372876	NM_006060.6(IKZF1):c.4G>C (p.Asp2His)	IKZF1 (D2H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020375	NM_006060.6(IKZF1):c.56C>A (p.Pro19His)	IKZF1 (P19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2152028	NM_006060.6(IKZF1):c.91A>G (p.Met31Val)	IKZF1 (M31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317474	NM_006060.6(IKZF1):c.122C>T (p.Ser41Leu)	IKZF1 (S41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336771	NM_006060.6(IKZF1):c.157G>A (p.Val53Met)	IKZF1 (V53M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1280525	NM_006060.6(IKZF1):c.161-8454T>G	IKZF1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1276385	NM_006060.6(IKZF1):c.161-206C>T	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238006	NM_006060.6(IKZF1):c.161-191G>A	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2866973	NM_006060.6(IKZF1):c.206G>A (p.Arg69His)	IKZF1 (R89H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 1270608	NM_006060.6(IKZF1):c.589+15T>C	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227878	NM_006060.6(IKZF1):c.589+41C>T	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253150	NM_006060.6(IKZF1):c.589+72C>G	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269927	NM_006060.6(IKZF1):c.590-238A>G	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275031	NM_006060.6(IKZF1):c.590-94dup	IKZF1	Duplication (intron variant)	not provided	GBenign
Select item 1246125	NM_006060.6(IKZF1):c.590-63A>T	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372397	NM_006060.6(IKZF1):c.616T>A (p.Cys206Ser)	IKZF1 (C119S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287476	NM_006060.6(IKZF1):c.715+178C>T	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222755	NM_006060.6(IKZF1):c.716-107G>A	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264168	NM_006060.6(IKZF1):c.716-22G>A	IKZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423249	NM_006060.6(IKZF1):c.825G>A (p.Lys275=)	IKZF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1270220	NM_006060.6(IKZF1):c.1002C>A (p.Pro334=)	IKZF1	Single nucleotide variant (synonymous variant)	Pancytopenia due to IKZF1 mutations +2 more	GBenign
Select item 3345797	NM_006060.6(IKZF1):c.1087C>T (p.His363Tyr)	IKZF1 (H133Y +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241958	NM_006060.6(IKZF1):c.1176C>T (p.Asn392=)	IKZF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 988782	NM_006060.6(IKZF1):c.1267C>T (p.Arg423Cys)	IKZF1 (R193C +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802010	NM_006060.6(IKZF1):c.1301C>T (p.Ala434Val)	IKZF1 (A204V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253468	NM_006060.6(IKZF1):c.1345C>T (p.Leu449Phe)	IKZF1 (L219F +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687660	NM_006060.6(IKZF1):c.*9C>T	IKZF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 31