NFE2L1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 2299185	NM_003204.3(NFE2L1):c.37C>T (p.Leu13Phe)	NFE2L1 (L13F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212723	NM_003204.3(NFE2L1):c.110C>T (p.Pro37Leu)	NFE2L1 (P37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785572	NM_003204.3(NFE2L1):c.147C>T (p.Ala49=)	NFE2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2559013	NM_003204.3(NFE2L1):c.197G>T (p.Gly66Val)	NFE2L1 (G66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406216	NM_003204.3(NFE2L1):c.244C>T (p.Arg82Trp)	NFE2L1 (R82W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465655	NM_003204.3(NFE2L1):c.418G>C (p.Val140Leu)	NFE2L1 (V140L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2016735	NM_003204.3(NFE2L1):c.421C>T (p.Arg141Ter)	NFE2L1 (R141*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2554841	NM_003204.3(NFE2L1):c.565C>T (p.Arg189Cys)	NFE2L1 (R189C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396116	NM_003204.3(NFE2L1):c.581A>G (p.Tyr194Cys)	NFE2L1 (Y183C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369591	NM_003204.3(NFE2L1):c.589C>T (p.Arg197Cys)	NFE2L1 (R186C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507973	NM_003204.3(NFE2L1):c.590G>A (p.Arg197His)	NFE2L1 (R197H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518355	NM_003204.3(NFE2L1):c.623G>A (p.Arg208Gln)	NFE2L1 (R197Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493145	NM_003204.3(NFE2L1):c.632G>A (p.Gly211Asp)	NFE2L1 (G200D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370762	NM_003204.3(NFE2L1):c.634G>A (p.Glu212Lys)	NFE2L1 (E212K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382099	NM_003204.3(NFE2L1):c.649G>T (p.Ala217Ser)	NFE2L1 (A206S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303459	NM_003204.3(NFE2L1):c.661G>A (p.Ala221Thr)	NFE2L1 (A210T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258242	NM_003204.3(NFE2L1):c.700A>T (p.Thr234Ser)	NFE2L1 (T234S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371517	NM_003204.3(NFE2L1):c.767G>T (p.Cys256Phe)	NFE2L1 (C256F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334896	NM_003204.3(NFE2L1):c.770T>G (p.Leu257Arg)	NFE2L1 (L246R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 759746	NM_003204.3(NFE2L1):c.814-7G>A	NFE2L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2597768	NM_003204.3(NFE2L1):c.847G>C (p.Val283Leu)	NFE2L1 (V272L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280071	NM_003204.3(NFE2L1):c.879A>C (p.Gln293His)	NFE2L1 (Q263H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482517	NM_003204.3(NFE2L1):c.1057C>G (p.Pro353Ala)	NFE2L1 (P323A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469778	NM_003204.3(NFE2L1):c.1225G>A (p.Gly409Ser)	NFE2L1 (G398S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468558	NM_003204.3(NFE2L1):c.1319G>T (p.Gly440Val)	NFE2L1 (G410V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538642	NM_003204.3(NFE2L1):c.1336A>G (p.Met446Val)	NFE2L1 (M435V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211221	NM_003204.3(NFE2L1):c.1466C>T (p.Ser489Phe)	NFE2L1 (S459F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395929	NM_003204.3(NFE2L1):c.1635G>T (p.Gln545His)	NFE2L1 (Q534H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602534	NM_003204.3(NFE2L1):c.1657C>T (p.Arg553Cys)	NFE2L1 (R542C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382202	NM_003204.3(NFE2L1):c.1658G>A (p.Arg553His)	NFE2L1 (R553H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279056	NM_003204.3(NFE2L1):c.1675C>G (p.Pro559Ala)	NFE2L1 (P548A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279057	NM_003204.3(NFE2L1):c.1678G>A (p.Ala560Thr)	NFE2L1 (A560T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334939	NM_003204.3(NFE2L1):c.1855C>T (p.Arg619Ter)	NFE2L1 (R589* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay	GUncertain significance
Select item 2337159	NM_003204.3(NFE2L1):c.1982G>A (p.Arg661Gln)	NFE2L1 (R661Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404246	NM_003204.3(NFE2L1):c.2051G>A (p.Arg684His)	NFE2L1 (R684H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342170	NM_003204.3(NFE2L1):c.2084G>A (p.Arg695Gln)	NFE2L1 (R665Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255089	NM_003204.3(NFE2L1):c.2236G>C (p.Gly746Arg)	NFE2L1 (G716R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	EFCAB13, GOSR2 +24 more	Copy number gain	PNPO-related disorders	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 44