ICE2[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 2273516	NM_024611.6(ICE2):c.2923G>A (p.Ala975Thr)	ICE2 (A838T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057462	NM_024611.6(ICE2):c.2874A>G (p.Glu958=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related condition	GLikely benign
Select item 2249175	NM_024611.6(ICE2):c.2762A>G (p.His921Arg)	ICE2 (H784R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492434	NM_024611.6(ICE2):c.2746C>T (p.Pro916Ser)	ICE2 (P916S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645384	NM_024611.6(ICE2):c.2629T>G (p.Ser877Ala)	ICE2 (S740A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2220060	NM_024611.6(ICE2):c.2543T>C (p.Ile848Thr)	ICE2 (I711T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249833	NM_024611.6(ICE2):c.2539C>A (p.His847Asn)	ICE2 (H710N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043172	NM_024611.6(ICE2):c.2511-10T>C	ICE2	Single nucleotide variant (intron variant)	ICE2-related condition	GLikely benign
Select item 1222476	NM_024611.6(ICE2):c.2343T>C (p.Tyr781=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2390693	NM_024611.6(ICE2):c.2256G>C (p.Glu752Asp)	ICE2 (E615D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047191	NM_024611.6(ICE2):c.2079G>A (p.Pro693=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related condition	GLikely benign
Select item 2469264	NM_024611.6(ICE2):c.2054G>A (p.Gly685Asp)	ICE2 (G548D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554165	NM_024611.6(ICE2):c.1933G>A (p.Val645Ile)	ICE2 (V508I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287617	NM_024611.6(ICE2):c.1933G>C (p.Val645Leu)	ICE2 (V508L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229020	NM_024611.6(ICE2):c.1903A>G (p.Ile635Val)	ICE2 (I498V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612104	NM_024611.6(ICE2):c.1861A>G (p.Thr621Ala)	ICE2 (T484A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411346	NM_024611.6(ICE2):c.1835A>G (p.Gln612Arg)	ICE2 (Q612R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305504	NM_024611.6(ICE2):c.1751G>A (p.Cys584Tyr)	ICE2 (C447Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315200	NM_024611.6(ICE2):c.1742A>C (p.Asp581Ala)	ICE2 (D444A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617226	NM_024611.6(ICE2):c.1731T>G (p.Cys577Trp)	ICE2 (C440W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336720	NM_024611.6(ICE2):c.1714G>A (p.Asp572Asn)	ICE2 (D435N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710050	NM_024611.6(ICE2):c.1699G>A (p.Val567Ile)	ICE2 (V430I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 758699	NM_024611.6(ICE2):c.1656G>A (p.Lys552=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224223	NM_024611.6(ICE2):c.1532C>G (p.Ser511Cys)	ICE2 (S374C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044137	NM_024611.6(ICE2):c.1515T>C (p.Asp505=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related condition	GLikely benign
Select item 2357429	NM_024611.6(ICE2):c.1482G>C (p.Lys494Asn)	ICE2 (K494N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049232	NM_024611.6(ICE2):c.1463G>A (p.Gly488Glu)	ICE2 (G351E +1 more)	Single nucleotide variant (missense variant +1 more)	ICE2-related condition	GLikely benign
Select item 977372	NM_024611.6(ICE2):c.1438del (p.Glu480fs)	ICE2 (E343fs +1 more)	Deletion (frameshift variant +1 more)	Seizure +1 more	GUncertain significance
Select item 2645385	NM_024611.6(ICE2):c.1401G>A (p.Glu467=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615511	NM_024611.6(ICE2):c.1349C>A (p.Ser450Tyr)	ICE2 (S313Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309253	NM_024611.6(ICE2):c.1322C>T (p.Thr441Ile)	ICE2 (T441I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368783	NM_024611.6(ICE2):c.1265C>A (p.Thr422Asn)	ICE2 (T285N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275557	NM_024611.6(ICE2):c.1253G>A (p.Ser418Asn)	ICE2 (S418N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045480	NM_024611.6(ICE2):c.1242A>G (p.Ser414=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related condition	GLikely benign
Select item 2363047	NM_024611.6(ICE2):c.1235A>G (p.Lys412Arg)	ICE2 (K412R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213932	NM_024611.6(ICE2):c.1234A>G (p.Lys412Glu)	ICE2 (K275E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716128	NM_024611.6(ICE2):c.1137A>G (p.Glu379=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3044984	NM_024611.6(ICE2):c.1125+13T>G	ICE2 (F380V)	Single nucleotide variant (missense variant +1 more)	ICE2-related condition	GLikely benign
Select item 977373	NM_024611.6(ICE2):c.943+543C>G	ICE2	Single nucleotide variant (intron variant)	Seizure +1 more	GUncertain significance
Select item 2239410	NM_024611.6(ICE2):c.916G>C (p.Val306Leu)	ICE2 (V169L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635846	NM_024611.6(ICE2):c.783+1G>C	ICE2	Single nucleotide variant (splice donor variant)	ICE2-related condition	GUncertain significance
Select item 2344116	NM_024611.6(ICE2):c.778C>T (p.His260Tyr)	ICE2 (H123Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645386	NM_024611.6(ICE2):c.768T>C (p.Ala256=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 714597	NM_024611.6(ICE2):c.762A>T (p.Gln254His)	ICE2 (Q117H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2611871	NM_024611.6(ICE2):c.749A>C (p.Glu250Ala)	ICE2 (E250A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337449	NM_024611.6(ICE2):c.655C>T (p.Leu219Phe)	ICE2 (L219F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244342	NM_024611.6(ICE2):c.619T>A (p.Phe207Ile)	ICE2 (F70I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398619	NM_024611.6(ICE2):c.515G>A (p.Arg172His)	ICE2 (R35H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286674	NM_024611.6(ICE2):c.514C>T (p.Arg172Cys)	ICE2 (R172C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283756	NM_024611.6(ICE2):c.488A>T (p.Asp163Val)	ICE2 (D163V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 739669	NM_024611.6(ICE2):c.429C>T (p.Asn143=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 252741	NM_024611.6(ICE2):c.416A>G (p.Lys139Arg)	ICE2 (K139R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2601602	NM_024611.6(ICE2):c.401A>G (p.Gln134Arg)	ICE2 (Q134R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471420	NM_024611.6(ICE2):c.241A>G (p.Thr81Ala)	ICE2 (T81A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306245	NM_024611.6(ICE2):c.140C>T (p.Ser47Phe)	ICE2 (S47F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331513	NM_024611.6(ICE2):c.130C>T (p.Arg44Cys)	ICE2 (R44C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3054536	NM_024611.6(ICE2):c.41+10A>T	ICE2	Single nucleotide variant (intron variant)	ICE2-related condition	GLikely benign
Select item 2632266	NM_024611.6(ICE2):c.13A>T (p.Met5Leu)	ICE2 (M5L)	Single nucleotide variant (5 prime UTR variant +2 more)	ICE2-related condition	GUncertain significance
Select item 2685518	GRCh37/hg19 15q22.2(chr15:60688155-60888244)x1	ICE2, ANXA2 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 1808550	GRCh37/hg19 15q22.2(chr15:60643853-60783194)x1	ANXA2, ICE2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980526	GRCh37/hg19 15q22.2(chr15:60512325-61718875)x3	ICE2, RORA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815726	GRCh37/hg19 15q22.2(chr15:60638862-60715643)x1	ANXA2, ICE2	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 77