IKZF2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 151407	GRCh38/hg38 2q34(chr2:212964934-213515243)x3	IKZF2, LINC01953 +16 more	Copy number gain	See cases	GLikely benign
Select item 2608418	NM_001387220.1(IKZF2):c.1523G>C (p.Ser508Thr)	IKZF2 (S433T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239092	NM_001387220.1(IKZF2):c.1416G>A (p.Lys472=)	IKZF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547029	NM_001387220.1(IKZF2):c.1375A>G (p.Lys459Glu)	IKZF2 (K433E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615997	NM_001387220.1(IKZF2):c.1330T>G (p.Leu444Val)	IKZF2 (L369V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109025	NM_001387220.1(IKZF2):c.1251C>G (p.His417Gln)	IKZF2 (H391Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307566	NM_001387220.1(IKZF2):c.1241A>C (p.His414Pro)	IKZF2 (H414P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305551	NM_001387220.1(IKZF2):c.1163G>A (p.Arg388Lys)	IKZF2 (R388K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109023	NM_001387220.1(IKZF2):c.1091T>C (p.Ile364Thr)	IKZF2 (I338T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025580	NM_001387220.1(IKZF2):c.1001A>G (p.His334Arg)	IKZF2 (H259R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612312	NM_001387220.1(IKZF2):c.954C>A (p.Asp318Glu)	IKZF2 (D318E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210552	NM_001387220.1(IKZF2):c.905A>G (p.Asn302Ser)	IKZF2 (N302S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688165	NM_001387220.1(IKZF2):c.857-60T>G	IKZF2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2285113	NM_001387220.1(IKZF2):c.796A>G (p.Ile266Val)	IKZF2 (I266V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2989032	NM_001387220.1(IKZF2):c.775C>T (p.Pro259Ser)	IKZF2 (P259S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2352140	NM_001387220.1(IKZF2):c.761A>G (p.Asn254Ser)	IKZF2 (N228S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109030	NM_001387220.1(IKZF2):c.742G>C (p.Glu248Gln)	IKZF2 (E222Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507524	NM_001387220.1(IKZF2):c.731G>T (p.Cys244Phe)	IKZF2 (C218F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299976	NM_001387220.1(IKZF2):c.719C>T (p.Pro240Leu)	IKZF2 (P214L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2687988	NM_001387220.1(IKZF2):c.712+62_712+69dup	IKZF2	Duplication (intron variant)	not specified	GBenign
Select item 3109029	NM_001387220.1(IKZF2):c.661T>C (p.Tyr221His)	IKZF2 (Y195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109028	NM_001387220.1(IKZF2):c.660C>G (p.Asn220Lys)	IKZF2 (N193K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239078	NM_001387220.1(IKZF2):c.626G>A (p.Ser209Asn)	IKZF2 (S182N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688037	NM_001387220.1(IKZF2):c.574+94G>A	IKZF2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2237082	NM_001387220.1(IKZF2):c.457G>C (p.Gly153Arg)	IKZF2 (G153R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109026	NM_001387220.1(IKZF2):c.433T>C (p.Cys145Arg)	IKZF2 (C145R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786765	NM_001387220.1(IKZF2):c.278A>G (p.Asn93Ser)	IKZF2 (N93S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495084	NM_001387220.1(IKZF2):c.260G>A (p.Ser87Asn)	IKZF2 (S86N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276165	NM_001387220.1(IKZF2):c.225T>G (p.Asp75Glu)	IKZF2 (D74E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383769	NM_001387220.1(IKZF2):c.221A>T (p.His74Leu)	IKZF2 (H74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622921	NM_001387220.1(IKZF2):c.197G>C (p.Ser66Thr)	IKZF2 (S65T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146757	GRCh38/hg38 2q34(chr2:213061148-213780664)x1	IKZF2, LINC01953 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2651864	NM_001387220.1(IKZF2):c.139+207G>A	IKZF2, LOC129935528	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2687981	NM_001387220.1(IKZF2):c.139+27T>G	IKZF2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3109031	NM_001387220.1(IKZF2):c.80T>C (p.Ile27Thr)	IKZF2 (I27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688130	NM_001387220.1(IKZF2):c.63G>A (p.Glu21=)	IKZF2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808152	GRCh37/hg19 2q34(chr2:213290522-214539066)x3	ERBB4, IKZF2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526947	GRCh37/hg19 2q34(chr2:213969855-214925262)	IKZF2, SPAG16	Copy number gain	not specified	GUncertain significance
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 599305	Single allele	ERBB4, IKZF2 +1 more	Deletion	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562620	GRCh37/hg19 2q34(chr2:213969855-214925262)x3	SPAG16, IKZF2	Copy number gain	not provided	GLikely benign
Select item 443348	GRCh37/hg19 2q34(chr2:212693376-214021458)x3	ERBB4, IKZF2	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441579	GRCh37/hg19 2q34(chr2:212384649-214064185)x1	ERBB4, IKZF2	Copy number loss	See cases	GLikely pathogenic
Select item 221428	GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3	ABCA12, BARD1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61