"GeneDx"[submitter] AND "FOXE1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1250293	NC_000009.12:g.97853077C>T	FOXE1, PTCSC2	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1294066	NM_004473.4(FOXE1):c.-644A>G	FOXE1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271089	NM_004473.4(FOXE1):c.-537G>C	FOXE1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1297302	NM_004473.4(FOXE1):c.-283A>G	FOXE1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1253567	NM_004473.4(FOXE1):c.-248C>A	FOXE1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1221326	NM_004473.4(FOXE1):c.-156T>C	FOXE1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1294056	NM_004473.4(FOXE1):c.-131G>C	FOXE1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 95096	NM_004473.4(FOXE1):c.387T>C (p.Leu129=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2662509	NM_004473.4(FOXE1):c.505GCC[8] (p.Ala177_Ala179del)	FOXE1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 95097	NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del)	FOXE1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 1177758	NM_004473.4(FOXE1):c.516C>A (p.Ala172=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591027	NM_004473.4(FOXE1):c.613C>G (p.Leu205Val)	FOXE1 (L205V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1181358	NM_004473.4(FOXE1):c.714C>T (p.Pro238=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 95098	NM_004473.4(FOXE1):c.825C>T (p.Ser275=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 167088	NM_004473.4(FOXE1):c.846G>A (p.Ala282=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1179927	NM_004473.4(FOXE1):c.*57T>C	FOXE1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1228293	NM_004473.4(FOXE1):c.*115A>C	FOXE1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1247020	NM_004473.4(FOXE1):c.*161G>T	FOXE1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260357	NM_004473.4(FOXE1):c.*265T>C	FOXE1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 24