RHOJ[gene] - ClinVar

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Items: 35

	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
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 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +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 151452	GRCh38/hg38 14q23.2(chr14:62330001-63219846)x3	KCNH5, LOC112272546 +3 more	Copy number gain	See cases	GLikely benign
Select item 58309	GRCh38/hg38 14q23.2(chr14:63124630-63563163)x3	LOC130055802, LOC130055803 +12 more	Copy number gain	See cases	GUncertain significance
Select item 149661	GRCh38/hg38 14q23.2(chr14:63153722-64093651)x3	GPHB5, LOC112268140 +29 more	Copy number gain	See cases	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 2620835	NM_020663.5(RHOJ):c.80T>G (p.Val27Gly)	RHOJ (V27G)	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 2644275	NM_020663.5(RHOJ):c.228C>T (p.Thr76=)	RHOJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3154085	NM_020663.5(RHOJ):c.291G>T (p.Leu97Phe)	RHOJ (L97F)	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 3154086	NM_020663.5(RHOJ):c.413G>A (p.Arg138His)	RHOJ (R138H)	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 2528419	NM_020663.5(RHOJ):c.448A>C (p.Met150Leu)	RHOJ (M150L)	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 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 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 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

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Items: 35