PROCR[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +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 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 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=)	PROCR, MMP24-AS1-EDEM2	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 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	MAP1LC3A, MIR499A +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +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

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Items: 24