ClinVar for Gene (Select 22863) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	CGRRF1, LOC130055695 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644253	NM_014924.5(ATG14):c.949C>T (p.Leu317=)	ATG14, FBXO34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613621	NM_014924.5(ATG14):c.541A>G (p.Ile181Val)	ATG14, FBXO34 (I181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613130	NM_014924.5(ATG14):c.287T>C (p.Val96Ala)	ATG14, FBXO34 (V96A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607588	NM_014924.5(ATG14):c.683C>G (p.Ala228Gly)	FBXO34, ATG14 (A228G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566195	NM_014924.5(ATG14):c.260G>T (p.Ser87Ile)	ATG14, FBXO34 (S87I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558050	NM_014924.5(ATG14):c.52G>T (p.Gly18Trp)	ATG14, FBXO34 (G18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539067	NM_014924.5(ATG14):c.1061A>T (p.Asn354Ile)	FBXO34, ATG14 (N354I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535679	NM_014924.5(ATG14):c.1207G>C (p.Glu403Gln)	ATG14, FBXO34 (E403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519609	NM_014924.5(ATG14):c.566G>A (p.Arg189His)	ATG14, FBXO34 (R189H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460635	NM_014924.5(ATG14):c.389G>A (p.Gly130Glu)	ATG14, FBXO34 (G130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408410	NM_014924.5(ATG14):c.73G>A (p.Asp25Asn)	FBXO34, ATG14 (D25N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358298	NM_014924.5(ATG14):c.1396G>A (p.Ala466Thr)	FBXO34, ATG14 (A466T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331696	NM_014924.5(ATG14):c.248G>A (p.Ser83Asn)	FBXO34, ATG14 (S83N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324596	NM_014924.5(ATG14):c.1435G>C (p.Ala479Pro)	FBXO34, ATG14 (A479P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274091	NM_014924.5(ATG14):c.910A>G (p.Ser304Gly)	FBXO34, ATG14 (S304G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247321	NM_014924.5(ATG14):c.214C>G (p.Arg72Gly)	ATG14, FBXO34 (R72G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224486	NM_014924.5(ATG14):c.625G>A (p.Glu209Lys)	FBXO34, ATG14 (E209K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 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 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
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 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 29