ClinVar for Gene (Select 57381) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314223	NM_020663.5(RHOJ):c.278C>T (p.Thr93Met)	RHOJ (T93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314222	NM_020663.5(RHOJ):c.437G>T (p.Arg146Leu)	RHOJ (R146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154087	NM_020663.5(RHOJ):c.563A>G (p.Asp188Gly)	RHOJ (D188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154086	NM_020663.5(RHOJ):c.413G>A (p.Arg138His)	RHOJ (R138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154085	NM_020663.5(RHOJ):c.291G>T (p.Leu97Phe)	RHOJ (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154084	NM_020663.5(RHOJ):c.143A>T (p.Glu48Val)	RHOJ (E48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +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 2644275	NM_020663.5(RHOJ):c.228C>T (p.Thr76=)	RHOJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620835	NM_020663.5(RHOJ):c.80T>G (p.Val27Gly)	RHOJ (V27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528419	NM_020663.5(RHOJ):c.448A>C (p.Met150Leu)	RHOJ (M150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514182	NM_020663.5(RHOJ):c.376G>A (p.Val126Met)	RHOJ (V126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477720	NM_020663.5(RHOJ):c.17G>A (p.Gly6Glu)	RHOJ (G6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370960	NM_020663.5(RHOJ):c.63G>A (p.Met21Ile)	RHOJ (M21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350879	NM_020663.5(RHOJ):c.637A>G (p.Ile213Val)	RHOJ (I213V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204442	NM_020663.5(RHOJ):c.641T>C (p.Ile214Thr)	RHOJ (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980605	GRCh37/hg19 14q23.2(chr14:63503098-63796178)x3	KCNH5, RHOJ +1 more	Copy number gain	not provided	GLikely benign
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 687136	GRCh37/hg19 14q23.2(chr14:63500586-63796306)x3	GPHB5, KCNH5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685994	GRCh37/hg19 14q23.2(chr14:63500586-63796306)x3	GPHB5, KCNH5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685178	GRCh37/hg19 14q23.2(chr14:63738984-63822791)x1	GPHB5, RHOJ	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
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 151452	GRCh38/hg38 14q23.2(chr14:62330001-63219846)x3	KCNH5, LOC112272546 +3 more	Copy number gain	See cases	GLikely benign
Select item 149661	GRCh38/hg38 14q23.2(chr14:63153722-64093651)x3	GPHB5, LOC112268140 +29 more	Copy number gain	See cases	GUncertain significance
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 58309	GRCh38/hg38 14q23.2(chr14:63124630-63563163)x3	LOC130055802, LOC130055803 +12 more	Copy number gain	See cases	GUncertain significance
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	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35