ZFP36L1[gene] - ClinVar - NCBI

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Items: 16

	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 523157	GRCh38/hg38 14q24.1(chr14:67823656-68813174)x1	LOC130055918, LOC130055919 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	ACTN1, ACTN1-DT +83 more	Copy number loss	See cases	GLikely pathogenic
Select item 2377456	NM_004926.4(ZFP36L1):c.826A>G (p.Thr276Ala)	ZFP36L1 (T276A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240014	NM_004926.4(ZFP36L1):c.694C>G (p.Leu232Val)	LOC130055941, ZFP36L1 (L232V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371851	NM_004926.4(ZFP36L1):c.443C>T (p.Thr148Ile)	ZFP36L1 (T148I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284250	NM_004926.4(ZFP36L1):c.281G>A (p.Gly94Glu)	ZFP36L1 (G94E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251816	NM_004926.4(ZFP36L1):c.143G>A (p.Gly48Asp)	ZFP36L1 (G117D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	GALNT16, ZFP36L1 +13 more	Deletion	not provided	GPathogenic
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 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic