NFE2L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 1931634	NM_006164.5(NFE2L2):c.1811A>G (p.Lys604Arg)	NFE2L2 (K531R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618559	NM_006164.5(NFE2L2):c.1809G>A (p.Lys603=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759986	NM_006164.5(NFE2L2):c.1802A>T (p.Asp601Val)	NFE2L2 (D528V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983897	NM_006164.5(NFE2L2):c.1798C>G (p.Pro600Ala)	NFE2L2 (P500A +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1555815	NM_006164.5(NFE2L2):c.1785C>G (p.Pro595=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470537	NM_006164.5(NFE2L2):c.1769A>G (p.Asn590Ser)	NFE2L2 (N517S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630074	NM_006164.5(NFE2L2):c.1765G>A (p.Gly589Ser)	NFE2L2 (G489S +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder	GUncertain significance
Select item 3345275	NM_006164.5(NFE2L2):c.1732C>A (p.Pro578Thr)	NFE2L2 (P478T +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder	GUncertain significance
Select item 1666836	NM_006164.5(NFE2L2):c.1728T>C (p.Tyr576=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170725	NM_006164.5(NFE2L2):c.1726T>C (p.Tyr576His)	NFE2L2 (Y476H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651566	NM_006164.5(NFE2L2):c.1716T>C (p.Asp572=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052990	NM_006164.5(NFE2L2):c.1710T>C (p.Asp570=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512976	NM_006164.5(NFE2L2):c.1706G>A (p.Arg569His)	NFE2L2 (R469H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447799	NM_006164.5(NFE2L2):c.1705C>T (p.Arg569Cys)	NFE2L2 (R496C +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2010398	NM_006164.5(NFE2L2):c.1696A>G (p.Ser566Gly)	NFE2L2 (S466G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574428	NM_006164.5(NFE2L2):c.1690G>A (p.Val564Ile)	NFE2L2 (V464I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806424	NM_006164.5(NFE2L2):c.1686C>G (p.Leu562=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182000	NM_006164.5(NFE2L2):c.1686C>T (p.Leu562=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742082	NM_006164.5(NFE2L2):c.1685T>G (p.Leu562Arg)	NFE2L2 (L539R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781523	NM_006164.5(NFE2L2):c.1680A>T (p.Leu560Phe)	NFE2L2 (L487F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583545	NM_006164.5(NFE2L2):c.1680A>G (p.Leu560=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426731	NM_006164.5(NFE2L2):c.1668A>G (p.Gln556=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343009	NM_006164.5(NFE2L2):c.1667A>G (p.Gln556Arg)	NFE2L2 (Q456R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677316	NM_006164.5(NFE2L2):c.1666C>A (p.Gln556Lys)	NFE2L2 (Q456K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534684	NM_006164.5(NFE2L2):c.1659G>A (p.Leu553=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013262	NM_006164.5(NFE2L2):c.1654C>T (p.Leu552=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559322	NM_006164.5(NFE2L2):c.1647C>T (p.Ser549=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761510	NM_006164.5(NFE2L2):c.1633G>C (p.Glu545Gln)	NFE2L2 (E545Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033075	NM_006164.5(NFE2L2):c.1624G>A (p.Glu542Lys)	NFE2L2 (E469K +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency, developmental delay, and hypohomocysteinemia	GUncertain significance
Select item 2879240	NM_006164.5(NFE2L2):c.1593T>C (p.His531=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399806	NM_006164.5(NFE2L2):c.1591C>A (p.His531Asn)	NFE2L2 (H431N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950204	NM_006164.5(NFE2L2):c.1584T>C (p.Asp528=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955270	NM_006164.5(NFE2L2):c.1563T>C (p.Asn521=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815439	NM_006164.5(NFE2L2):c.1527G>C (p.Val509=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977533	NM_006164.5(NFE2L2):c.1506T>C (p.Arg502=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990127	NM_006164.5(NFE2L2):c.1497G>A (p.Arg499=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2958647	NM_006164.5(NFE2L2):c.1487C>G (p.Ala496Gly)	NFE2L2 (A423G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985260	NM_006164.5(NFE2L2):c.1487C>T (p.Ala496Val)	NFE2L2 (A473V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094911	NM_006164.5(NFE2L2):c.1457C>G (p.Ser486Cys)	NFE2L2 (S456C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154319	NM_006164.5(NFE2L2):c.1449A>G (p.Glu483=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640584	NM_006164.5(NFE2L2):c.1446C>T (p.Asn482=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075659	NM_006164.5(NFE2L2):c.1445A>G (p.Asn482Ser)	NFE2L2 (N466S +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2697492	NM_006164.5(NFE2L2):c.1438G>C (p.Asp480His)	NFE2L2 (D380H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800481	NM_006164.5(NFE2L2):c.1425C>G (p.Asn475Lys)	NFE2L2 (N375K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017405	NM_006164.5(NFE2L2):c.1353G>A (p.Glu451=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134905	NM_006164.5(NFE2L2):c.1346G>A (p.Arg449His)	NFE2L2 (R433H +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1409201	NM_006164.5(NFE2L2):c.1345C>T (p.Arg449Cys)	NFE2L2 (R376C +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency, developmental delay, and hypohomocysteinemia +1 more	GUncertain significance
Select item 2031491	NM_006164.5(NFE2L2):c.1332del (p.Asp444fs)	NFE2L2 (D344fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2803400	NM_006164.5(NFE2L2):c.1329A>G (p.Lys443=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971410	NM_006164.5(NFE2L2):c.1314A>C (p.Lys438Asn)	NFE2L2 (K338N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715990	NM_006164.5(NFE2L2):c.1307A>G (p.His436Arg)	NFE2L2 (H363R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477495	NM_006164.5(NFE2L2):c.1303G>C (p.Gly435Arg)	NFE2L2 (G412R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794459	NM_006164.5(NFE2L2):c.1301C>G (p.Pro434Arg)	NFE2L2 (P334R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585420	NM_006164.5(NFE2L2):c.1298G>A (p.Ser433Asn)	NFE2L2 (S333N +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency, developmental delay, and hypohomocysteinemia +1 more	GUncertain significance
Select item 2960362	NM_006164.5(NFE2L2):c.1294G>C (p.Val432Leu)	NFE2L2 (V416L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151193	NM_006164.5(NFE2L2):c.1294G>T (p.Val432Leu)	NFE2L2 (V409L +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1633519	NM_006164.5(NFE2L2):c.1294G>A (p.Val432Ile)	NFE2L2 (V332I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1598753	NM_006164.5(NFE2L2):c.1290G>C (p.Leu430Phe)	NFE2L2 (L330F +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1909411	NM_006164.5(NFE2L2):c.1288T>C (p.Leu430=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428351	NM_006164.5(NFE2L2):c.1283A>G (p.Lys428Arg)	NFE2L2 (K328R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955388	NM_006164.5(NFE2L2):c.1274C>A (p.Thr425Lys)	NFE2L2 (T325K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838026	NM_006164.5(NFE2L2):c.1272C>T (p.Asn424=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356474	NM_006164.5(NFE2L2):c.1270A>G (p.Asn424Asp)	NFE2L2 (N324D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406274	NM_006164.5(NFE2L2):c.1269G>T (p.Glu423Asp)	NFE2L2 (E350D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599165	NM_006164.5(NFE2L2):c.1263A>T (p.Gln421His)	NFE2L2 (Q321H +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2136106	NM_006164.5(NFE2L2):c.1261C>T (p.Gln421Ter)	NFE2L2 (Q391* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2127785	NM_006164.5(NFE2L2):c.1254T>C (p.His418=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785003	NM_006164.5(NFE2L2):c.1248C>T (p.His416=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752530	NM_006164.5(NFE2L2):c.1245_1248del (p.His416fs)	NFE2L2 (H316fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3009607	NM_006164.5(NFE2L2):c.1245T>G (p.Thr415=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014486	NM_006164.5(NFE2L2):c.1232A>T (p.Gln411Leu)	NFE2L2 (Q395L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516259	NM_006164.5(NFE2L2):c.1231C>T (p.Gln411Ter)	NFE2L2 (Q338* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1485769	NM_006164.5(NFE2L2):c.1228T>C (p.Ser410Pro)	NFE2L2 (S380P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005525	NM_006164.5(NFE2L2):c.1226C>T (p.Pro409Leu)	NFE2L2 (P309L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722149	NM_006164.5(NFE2L2):c.1204G>T (p.Asp402Tyr)	NFE2L2 (D302Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701783	NM_006164.5(NFE2L2):c.1202G>A (p.Gly401Glu)	NFE2L2 (G328E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009231	NM_006164.5(NFE2L2):c.1195T>C (p.Ser399Pro)	NFE2L2 (S326P +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2637750	NM_006164.5(NFE2L2):c.1193A>C (p.His398Pro)	NFE2L2 (H298P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1562306	NM_006164.5(NFE2L2):c.1189G>A (p.Val397Ile)	NFE2L2 (V297I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1940564	NM_006164.5(NFE2L2):c.1174G>A (p.Gly392Ser)	NFE2L2 (G392S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558111	NM_006164.5(NFE2L2):c.1170G>C (p.Gln390His)	NFE2L2 (Q290H +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745766	NM_006164.5(NFE2L2):c.1170G>A (p.Gln390=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234991	NM_006164.5(NFE2L2):c.1168C>G (p.Gln390Glu)	NFE2L2 (Q290E +5 more)	Single nucleotide variant (missense variant)	Immunodeficiency, developmental delay, and hypohomocysteinemia	GUncertain significance
Select item 2187153	NM_006164.5(NFE2L2):c.1166A>G (p.Lys389Arg)	NFE2L2 (K389R +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1478587	NM_006164.5(NFE2L2):c.1163T>C (p.Val388Ala)	NFE2L2 (V288A +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1671446	NM_006164.5(NFE2L2):c.1128T>C (p.Ser376=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816832	NM_006164.5(NFE2L2):c.1122T>C (p.Ser374=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969233	NM_006164.5(NFE2L2):c.1110A>G (p.Leu370=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134902	NM_006164.5(NFE2L2):c.1106C>T (p.Thr369Ile)	NFE2L2 (T353I +5 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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