FNTB[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 147881	GRCh38/hg38 14q23.3(chr14:64952923-66295289)x3	LOC130055860, LOC130055861 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2519608	NM_002028.4(FNTB):c.26A>G (p.Tyr9Cys)	CHURC1-FNTB, FNTB (Y9C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397916	NM_002028.4(FNTB):c.29A>G (p.Tyr10Cys)	FNTB, CHURC1-FNTB (Y10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541644	NM_002028.4(FNTB):c.64C>T (p.Pro22Ser)	CHURC1-FNTB, FNTB (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485722	NM_002028.4(FNTB):c.85G>A (p.Glu29Lys)	CHURC1-FNTB, FNTB (E29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550573	NM_002028.4(FNTB):c.136A>T (p.Ile46Leu)	CHURC1-FNTB, FNTB (I46L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1245444	NM_002028.4(FNTB):c.209+1859_209+1860dup	CHURC1-FNTB, FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233463	NM_002028.4(FNTB):c.209+1860dup	LOC126861966, MAX +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2582922	NM_002028.4(FNTB):c.209+1930A>C	CHURC1-FNTB, FNTB +2 more (Y62* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1692098	NM_002028.4(FNTB):c.209+1976G>T	CHURC1-FNTB, FNTB +2 more	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1233970	NM_002028.4(FNTB):c.209+2165G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1802848	NM_002028.4(FNTB):c.282+8C>A	FNTB, CHURC1-FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2575320	NM_002028.4(FNTB):c.606-16G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2644327	NM_002028.4(FNTB):c.672C>T (p.Gly224=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644328	NM_002028.4(FNTB):c.915G>A (p.Ala305=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644329	NM_002028.4(FNTB):c.990C>T (p.Phe330=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
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 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 29