NFE2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2290104	NM_001136023.3(NFE2):c.1096G>A (p.Gly366Arg)	NFE2 (G366R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513417	NM_001136023.3(NFE2):c.1069G>A (p.Asp357Asn)	NFE2 (D357N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197051	NM_001136023.3(NFE2):c.1036T>C (p.Ser346Pro)	NFE2 (S245P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480305	NM_001136023.3(NFE2):c.1031G>A (p.Ser344Asn)	NFE2 (S243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197081	NM_001136023.3(NFE2):c.995A>T (p.Asp332Val)	NFE2 (D332V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538534	NM_001136023.3(NFE2):c.875T>G (p.Val292Gly)	NFE2 (V191G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294287	NM_001136023.3(NFE2):c.742G>C (p.Asp248His)	NFE2 (D147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520952	NM_001136023.3(NFE2):c.589C>A (p.Pro197Thr)	NFE2 (P96T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459226	NM_001136023.3(NFE2):c.506G>A (p.Arg169His)	NFE2 (R169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483894	NM_001136023.3(NFE2):c.503G>A (p.Arg168Gln)	NFE2 (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643056	NM_001136023.3(NFE2):c.432C>T (p.Ser144=)	NFE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299507	NM_001136023.3(NFE2):c.296A>G (p.Tyr99Cys)	NFE2 (Y99C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197061	NM_001136023.3(NFE2):c.134A>G (p.Glu45Gly)	NFE2 (E45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552638	NM_001136023.3(NFE2):c.77T>C (p.Leu26Pro)	NFE2 (L26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684674	GRCh37/hg19 12q13.13(chr12:54429002-54898430)x3	CBX5, COPZ1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 21