FOXN3[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 2315372	NM_005197.4(FOXN3):c.1291A>T (p.Met431Leu)	FOXN3 (M431L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258076	NM_005197.4(FOXN3):c.1231G>A (p.Asp411Asn)	FOXN3 (D411N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593109	NM_005197.4(FOXN3):c.1171G>A (p.Gly391Arg)	FOXN3 (G391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644444	NM_005197.4(FOXN3):c.1164G>T (p.Gly388=)	FOXN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096521	NM_005197.4(FOXN3):c.1152G>T (p.Lys384Asn)	FOXN3 (K406N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347132	NM_005197.4(FOXN3):c.1112C>T (p.Thr371Met)	FOXN3 (T371M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205450	NM_005197.4(FOXN3):c.980C>T (p.Ser327Leu)	FOXN3 (S327L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360399	NM_005197.4(FOXN3):c.872G>A (p.Arg291Gln)	FOXN3 (R291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319248	NM_005197.4(FOXN3):c.746-9587C>A	FOXN3 (Q268K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148636	GRCh38/hg38 14q31.3-32.11(chr14:89279482-89709054)x1	FOXN3, FOXN3-AS1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 2316241	NM_005197.4(FOXN3):c.703C>T (p.Pro235Ser)	FOXN3 (P235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365376	NM_005197.4(FOXN3):c.528C>A (p.Asp176Glu)	FOXN3 (D176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492044	NM_005197.4(FOXN3):c.146G>A (p.Arg49Gln)	FOXN3 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494575	NM_005197.4(FOXN3):c.139G>C (p.Asp47His)	FOXN3 (D47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293868	NM_005197.4(FOXN3):c.127T>G (p.Phe43Val)	FOXN3 (F43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599423	NM_005197.4(FOXN3):c.124G>A (p.Asp42Asn)	FOXN3 (D42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260048	NM_005197.4(FOXN3):c.119A>C (p.Asp40Ala)	FOXN3 (D40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481487	NM_005197.4(FOXN3):c.65T>G (p.Leu22Arg)	FOXN3 (L22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276727	NM_005197.4(FOXN3):c.19C>T (p.Pro7Ser)	FOXN3 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, CPSF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 441941	GRCh37/hg19 14q31.3-32.11(chr14:89586296-89904864)x1	FOXN3	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 39