ClinVar for Gene (Select 9603) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197435	NM_004289.7(NFE2L3):c.811T>C (p.Ser271Pro)	NFE2L3 (S271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197433	NM_004289.7(NFE2L3):c.796T>C (p.Phe266Leu)	NFE2L3 (F266L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197418	NM_004289.7(NFE2L3):c.701C>T (p.Ala234Val)	NFE2L3 (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197403	NM_004289.7(NFE2L3):c.476C>T (p.Ala159Val)	NFE2L3 (A159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197382	NM_004289.7(NFE2L3):c.283G>T (p.Val95Leu)	NFE2L3 (V95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197375	NM_004289.7(NFE2L3):c.217C>T (p.His73Tyr)	NFE2L3 (H73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197371	NM_004289.7(NFE2L3):c.2007T>A (p.Asp669Glu)	LOC129998143, NFE2L3 (D669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197366	NM_004289.7(NFE2L3):c.1888G>T (p.Ala630Ser)	LOC129998142, NFE2L3 (A630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197344	NM_004289.7(NFE2L3):c.170A>G (p.Tyr57Cys)	NFE2L3 (Y57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197319	NM_004289.7(NFE2L3):c.1507C>G (p.Gln503Glu)	NFE2L3 (Q503E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197313	NM_004289.7(NFE2L3):c.1464T>G (p.Asp488Glu)	NFE2L3 (D488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197301	NM_004289.7(NFE2L3):c.1349G>A (p.Cys450Tyr)	NFE2L3 (C450Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197297	NM_004289.7(NFE2L3):c.1343G>T (p.Gly448Val)	NFE2L3 (G448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197287	NM_004289.7(NFE2L3):c.1220A>C (p.Asp407Ala)	NFE2L3 (D407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197283	NM_004289.7(NFE2L3):c.1193C>G (p.Ala398Gly)	NFE2L3 (A398G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197279	NM_004289.7(NFE2L3):c.1182A>C (p.Leu394Phe)	NFE2L3 (L394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197276	NM_004289.7(NFE2L3):c.1144T>C (p.Tyr382His)	NFE2L3 (Y382H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197273	NM_004289.7(NFE2L3):c.1129A>C (p.Ser377Arg)	NFE2L3 (S377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197259	NM_004289.7(NFE2L3):c.1069C>T (p.Pro357Ser)	NFE2L3 (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2657357	NM_004289.7(NFE2L3):c.2035C>T (p.Leu679=)	LOC129998143, NFE2L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657356	NM_004289.7(NFE2L3):c.1442G>A (p.Ser481Asn)	NFE2L3 (S481N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657355	NM_004289.7(NFE2L3):c.1418G>C (p.Ser473Thr)	HNRNPA2B1, NFE2L3 (S473T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2603522	NM_004289.7(NFE2L3):c.1793G>T (p.Arg598Leu)	NFE2L3 (R598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597745	NM_004289.7(NFE2L3):c.1609C>T (p.Arg537Cys)	NFE2L3 (R537C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597699	NM_004289.7(NFE2L3):c.212C>T (p.Ala71Val)	NFE2L3 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568644	NM_004289.7(NFE2L3):c.896C>G (p.Ala299Gly)	NFE2L3 (A299G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549249	NM_004289.7(NFE2L3):c.296G>A (p.Gly99Glu)	NFE2L3 (G99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535620	NM_004289.7(NFE2L3):c.598G>A (p.Glu200Lys)	NFE2L3 (E200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523815	NM_004289.7(NFE2L3):c.2050C>T (p.His684Tyr)	LOC129998143, NFE2L3 (H684Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519052	NM_004289.7(NFE2L3):c.1688A>G (p.Asn563Ser)	NFE2L3 (N563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517101	NM_004289.7(NFE2L3):c.1577G>A (p.Arg526Lys)	NFE2L3 (R526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516505	NM_004289.7(NFE2L3):c.1418G>A (p.Ser473Asn)	NFE2L3 (S473N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509103	NM_004289.7(NFE2L3):c.1487A>G (p.His496Arg)	NFE2L3 (H496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498230	NM_004289.7(NFE2L3):c.932A>G (p.Gln311Arg)	NFE2L3 (Q311R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2477456	NM_004289.7(NFE2L3):c.132C>A (p.Asp44Glu)	NFE2L3 (D44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411099	NM_004289.7(NFE2L3):c.649G>C (p.Ala217Pro)	NFE2L3 (A217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399977	NM_004289.7(NFE2L3):c.604G>T (p.Val202Leu)	NFE2L3 (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395946	NM_004289.7(NFE2L3):c.151G>T (p.Gly51Cys)	NFE2L3 (G51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392184	NM_004289.7(NFE2L3):c.1600A>C (p.Asn534His)	NFE2L3 (N534H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388735	NM_004289.7(NFE2L3):c.1769T>C (p.Val590Ala)	NFE2L3 (V590A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378155	NM_004289.7(NFE2L3):c.1821A>T (p.Glu607Asp)	NFE2L3 (E607D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369000	NM_004289.7(NFE2L3):c.1370C>A (p.Ser457Tyr)	NFE2L3 (S457Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366998	NM_004289.7(NFE2L3):c.550G>A (p.Ala184Thr)	NFE2L3 (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357344	NM_004289.7(NFE2L3):c.1103T>C (p.Val368Ala)	NFE2L3 (V368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353690	NM_004289.7(NFE2L3):c.346G>A (p.Val116Met)	NFE2L3 (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348478	NM_004289.7(NFE2L3):c.337G>C (p.Val113Leu)	NFE2L3 (V113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338658	NM_004289.7(NFE2L3):c.752G>C (p.Arg251Thr)	NFE2L3 (R251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337888	NM_004289.7(NFE2L3):c.476C>A (p.Ala159Glu)	NFE2L3 (A159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335119	NM_004289.7(NFE2L3):c.1849A>G (p.Lys617Glu)	NFE2L3 (K617E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332191	NM_004289.7(NFE2L3):c.1827T>G (p.Asp609Glu)	NFE2L3 (D609E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329119	NM_004289.7(NFE2L3):c.1478A>C (p.His493Pro)	NFE2L3 (H493P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323830	NM_004289.7(NFE2L3):c.1414C>T (p.Pro472Ser)	NFE2L3 (P472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280513	NM_004289.7(NFE2L3):c.773C>T (p.Thr258Ile)	NFE2L3 (T258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261993	NM_004289.7(NFE2L3):c.1591A>G (p.Thr531Ala)	NFE2L3 (T531A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255775	NM_004289.7(NFE2L3):c.785T>C (p.Leu262Pro)	NFE2L3 (L262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251208	NM_004289.7(NFE2L3):c.1121A>C (p.Asn374Thr)	NFE2L3 (N374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237425	NM_004289.7(NFE2L3):c.1519C>G (p.Pro507Ala)	NFE2L3 (P507A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230819	NM_004289.7(NFE2L3):c.349G>A (p.Ala117Thr)	NFE2L3 (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229406	NM_004289.7(NFE2L3):c.539A>C (p.Gln180Pro)	NFE2L3 (Q180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214626	NM_004289.7(NFE2L3):c.1331A>T (p.Glu444Val)	NFE2L3 (E444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207354	NM_004289.7(NFE2L3):c.1726G>C (p.Val576Leu)	NFE2L3 (V576L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 979764	GRCh37/hg19 7p15.2(chr7:25753007-26217383)x1	NFE2L3, MIR148A	Copy number loss	not provided	GUncertain significance
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 688016	GRCh37/hg19 7p15.2(chr7:26078069-26417400)x3	CBX3, HNRNPA2B1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687985	GRCh37/hg19 7p15.2(chr7:26182745-26427208)x3	CBX3, HNRNPA2B1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686380	GRCh37/hg19 7p15.2(chr7:26000436-26238467)x3	HNRNPA2B1, NFE2L3	Copy number gain	not provided	GUncertain significance
Select item 685782	GRCh37/hg19 7p15.2(chr7:26099497-26445752)x3	CBX3, HNRNPA2B1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 493559	GRCh37/hg19 7p15.2(chr7:26086266-26223793)x3	NFE2L3	Copy number gain	not provided	GLikely benign
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395288	GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3	CBX3, EVX1 +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 151979	GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1	CBX3, HNRNPA2B1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 98