CHURC1[gene] - ClinVar

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

Search results

Items: 23

	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 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	AKAP5, C14orf39 +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 2277559	NM_145165.3(CHURC1):c.28G>A (p.Glu10Lys)	CHURC1, CHURC1-FNTB (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286630	NM_145165.3(CHURC1):c.35C>T (p.Ser12Leu)	CHURC1, CHURC1-FNTB (S12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722157	NM_001386928.1(CHURC1):c.60T>A (p.Asn20Lys)	CHURC1, CHURC1-FNTB (N47K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 782958	NM_001386928.1(CHURC1):c.170A>G (p.Tyr57Cys)	CHURC1, CHURC1-FNTB (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2291162	NM_001386928.1(CHURC1):c.258G>A (p.Met86Ile)	CHURC1, CHURC1-FNTB (A63T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403674	NM_001386928.1(CHURC1):c.274G>A (p.Gly92Ser)	CHURC1, CHURC1-FNTB (G92S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540953	NM_001386928.1(CHURC1):c.283G>A (p.Glu95Lys)	CHURC1, CHURC1-FNTB (E96K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360986	NM_001386928.1(CHURC1):c.295A>G (p.Ser99Gly)	CHURC1, CHURC1-FNTB (S99G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144862	NM_001386928.1(CHURC1):c.296G>C (p.Ser99Thr)	CHURC1, CHURC1-FNTB (Q75H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510954	NM_001386928.1(CHURC1):c.317G>A (p.Arg106Gln)	CHURC1, CHURC1-FNTB (R106Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	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 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	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
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 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	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 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	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

Search results

Items: 23