PROCR[gene] - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 3310280	NM_006404.5(PROCR):c.26T>C (p.Leu9Pro)	MMP24-AS1-EDEM2, PROCR (L9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366201	NM_006404.5(PROCR):c.164C>T (p.Thr55Met)	MMP24-AS1-EDEM2, PROCR (T55M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731572	NM_006404.5(PROCR):c.262T>C (p.Ser88Pro)	MMP24-AS1-EDEM2, PROCR (S88P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2301038	NM_006404.5(PROCR):c.283G>T (p.Gly95Cys)	MMP24-AS1-EDEM2, PROCR (G95C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310279	NM_006404.5(PROCR):c.305A>G (p.Gln102Arg)	MMP24-AS1-EDEM2, PROCR (Q102R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210619	NM_006404.5(PROCR):c.311G>C (p.Arg104Pro)	MMP24-AS1-EDEM2, PROCR (R104P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467830	NM_006404.5(PROCR):c.383A>T (p.His128Leu)	MMP24-AS1-EDEM2, PROCR (H128L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737408	NM_006404.5(PROCR):c.393C>T (p.Phe131=)	MMP24-AS1-EDEM2, PROCR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2400339	NM_006404.5(PROCR):c.517C>G (p.Arg173Gly)	MMP24-AS1-EDEM2, PROCR (R173G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317503	NM_006404.5(PROCR):c.536G>A (p.Arg179Gln)	MMP24-AS1-EDEM2, PROCR (R179Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2533397	NM_006404.5(PROCR):c.554C>A (p.Thr185Asn)	MMP24-AS1-EDEM2, PROCR (T185N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411277	NM_006404.5(PROCR):c.629C>T (p.Ser210Leu)	MMP24-AS1-EDEM2, PROCR (S210L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 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: 27