ICE2[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +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	LOC130057927, LOC130057928 +1764 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)	not specified	GUncertain significance
Select item 3057462	NM_024611.6(ICE2):c.2874A>G (p.Glu958=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	GLikely benign
Select item 3107974	NM_024611.6(ICE2):c.2821A>T (p.Ile941Phe)	ICE2 (I804F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249175	NM_024611.6(ICE2):c.2762A>G (p.His921Arg)	ICE2 (H784R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3347835	NM_024611.6(ICE2):c.2651C>T (p.Thr884Ile)	ICE2 (T747I +1 more)	Single nucleotide variant (missense variant +1 more)	ICE2-related disorder	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 3107973	NM_024611.6(ICE2):c.2576C>A (p.Ser859Tyr)	ICE2 (S722Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285210	NM_024611.6(ICE2):c.2555T>G (p.Leu852Arg)	ICE2 (L715R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220060	NM_024611.6(ICE2):c.2543T>C (p.Ile848Thr)	ICE2 (I711T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3043172	NM_024611.6(ICE2):c.2511-10T>C	ICE2	Single nucleotide variant (intron variant)	ICE2-related disorder	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 3285207	NM_024611.6(ICE2):c.2300T>C (p.Phe767Ser)	ICE2 (F630S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390693	NM_024611.6(ICE2):c.2256G>C (p.Glu752Asp)	ICE2 (E615D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107971	NM_024611.6(ICE2):c.2233C>A (p.Arg745Ser)	ICE2 (R608S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107970	NM_024611.6(ICE2):c.2083T>G (p.Ser695Ala)	ICE2 (S558A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047191	NM_024611.6(ICE2):c.2079G>A (p.Pro693=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	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)	not specified	GUncertain significance
Select item 3107968	NM_024611.6(ICE2):c.2015A>G (p.Glu672Gly)	ICE2 (E672G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3285205	NM_024611.6(ICE2):c.1850A>G (p.Asn617Ser)	ICE2 (N480S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3285209	NM_024611.6(ICE2):c.1745C>G (p.Thr582Arg)	ICE2 (T445R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3044137	NM_024611.6(ICE2):c.1515T>C (p.Asp505=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	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)	not specified	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 disorder	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)	not specified	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)	not specified	GUncertain significance
Select item 3285206	NM_024611.6(ICE2):c.1304C>T (p.Pro435Leu)	ICE2 (P298L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3045480	NM_024611.6(ICE2):c.1242A>G (p.Ser414=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	ICE2-related disorder	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)	not specified	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)	not specified	GUncertain significance
Select item 3285204	NM_024611.6(ICE2):c.1193A>G (p.Asp398Gly)	ICE2 (D261G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 disorder	GLikely benign
Select item 3107979	NM_024611.6(ICE2):c.953C>T (p.Pro318Leu)	ICE2 (P318L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 3107978	NM_024611.6(ICE2):c.827A>G (p.Tyr276Cys)	ICE2 (Y276C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635846	NM_024611.6(ICE2):c.783+1G>C	ICE2	Single nucleotide variant (splice donor variant)	ICE2-related disorder	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)	not specified	GUncertain significance
Select item 2645386	NM_024611.6(ICE2):c.768T>C (p.Ala256=)	ICE2	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	not specified	GUncertain significance
Select item 3107976	NM_024611.6(ICE2):c.655C>G (p.Leu219Val)	ICE2 (L82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3107972	NM_024611.6(ICE2):c.254T>C (p.Val85Ala)	ICE2 (V85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471420	NM_024611.6(ICE2):c.241A>G (p.Thr81Ala)	ICE2 (T81A)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 3054536	NM_024611.6(ICE2):c.41+10A>T	ICE2	Single nucleotide variant (intron variant)	ICE2-related disorder	GLikely benign
Select item 3107975	NM_024611.6(ICE2):c.32G>A (p.Gly11Glu)	ICE2 (G11E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3107967	NM_024611.6(ICE2):c.19A>G (p.Ile7Val)	ICE2 (I7V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
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 disorder	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	ADAM10, ALDH1A2 +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 +81 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 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	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 95