1107[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 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)	not specified	GUncertain significance
Select item 2240014	NM_004926.4(ZFP36L1):c.694C>G (p.Leu232Val)	LOC130055941, ZFP36L1 (L232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371851	NM_004926.4(ZFP36L1):c.443C>T (p.Thr148Ile)	ZFP36L1 (T148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284250	NM_004926.4(ZFP36L1):c.281G>A (p.Gly94Glu)	ZFP36L1 (G94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193128	NM_004926.4(ZFP36L1):c.211C>T (p.Leu71Phe)	ZFP36L1 (L140F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251816	NM_004926.4(ZFP36L1):c.143G>A (p.Gly48Asp)	ZFP36L1 (G117D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	ACTN1, CCDC177 +13 more	Deletion	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic