PRSS53[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 2484223	NM_001039503.3(PRSS53):c.1618C>T (p.Pro540Ser)	PRSS53, ZNF646 (P540S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207395	NM_001039503.3(PRSS53):c.1594G>A (p.Glu532Lys)	PRSS53, ZNF646 (E532K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303609	NM_001039503.3(PRSS53):c.1588T>C (p.Phe530Leu)	PRSS53, ZNF646 (F530L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366082	NM_001039503.3(PRSS53):c.1538C>T (p.Ala513Val)	PRSS53 (A513V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360014	NM_001039503.3(PRSS53):c.1495G>A (p.Gly499Arg)	PRSS53 (G499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245284	NM_001039503.3(PRSS53):c.1480G>A (p.Gly494Arg)	PRSS53 (G494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262204	NM_001039503.3(PRSS53):c.1463G>A (p.Gly488Asp)	PRSS53 (G488D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306383	NM_001039503.3(PRSS53):c.1439C>A (p.Ala480Glu)	PRSS53 (A480E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219906	NM_001039503.3(PRSS53):c.1363G>A (p.Gly455Ser)	PRSS53 (G455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544506	NM_001039503.3(PRSS53):c.1345G>A (p.Ala449Thr)	PRSS53 (A449T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321011	NM_001039503.3(PRSS53):c.1325G>C (p.Arg442Thr)	PRSS53 (R442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364792	NM_001039503.3(PRSS53):c.1262G>A (p.Arg421Gln)	PRSS53 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313503	NM_001039503.3(PRSS53):c.1149G>T (p.Met383Ile)	PRSS53 (M383I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219905	NM_001039503.3(PRSS53):c.1135G>C (p.Gly379Arg)	PRSS53 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310719	NM_001039503.3(PRSS53):c.1124C>T (p.Thr375Ile)	PRSS53 (T375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604331	NM_001039503.3(PRSS53):c.1079C>T (p.Pro360Leu)	PRSS53 (P360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219903	NM_001039503.3(PRSS53):c.1060G>A (p.Val354Ile)	PRSS53 (V354I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219902	NM_001039503.3(PRSS53):c.1037G>A (p.Arg346His)	PRSS53 (R346H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646467	NM_001039503.3(PRSS53):c.1023C>T (p.His341=)	PRSS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568645	NM_001039503.3(PRSS53):c.976T>C (p.Cys326Arg)	PRSS53 (C326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310721	NM_001039503.3(PRSS53):c.925C>T (p.Pro309Ser)	PRSS53 (P309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391071	NM_001039503.3(PRSS53):c.843C>G (p.Ser281Arg)	PRSS53 (S281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219913	NM_001039503.3(PRSS53):c.722G>C (p.Gly241Ala)	PRSS53 (G241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219912	NM_001039503.3(PRSS53):c.702C>G (p.Asp234Glu)	PRSS53 (D234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240039	NM_001039503.3(PRSS53):c.694G>C (p.Glu232Gln)	PRSS53 (E232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290182	NM_001039503.3(PRSS53):c.673G>A (p.Gly225Arg)	PRSS53 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219911	NM_001039503.3(PRSS53):c.651G>C (p.Gln217His)	PRSS53 (Q217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510683	NM_001039503.3(PRSS53):c.650A>G (p.Gln217Arg)	PRSS53 (Q217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310722	NM_001039503.3(PRSS53):c.575A>C (p.Asn192Thr)	PRSS53 (N192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310723	NM_001039503.3(PRSS53):c.569T>A (p.Ile190Asn)	PRSS53 (I190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410062	NM_001039503.3(PRSS53):c.559T>C (p.Cys187Arg)	PRSS53 (C187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338631	NM_001039503.3(PRSS53):c.550C>T (p.Arg184Cys)	PRSS53 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591076	NM_001039503.3(PRSS53):c.539G>A (p.Arg180His)	PRSS53 (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460502	NM_001039503.3(PRSS53):c.533G>A (p.Arg178His)	PRSS53 (R178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275999	NM_001039503.3(PRSS53):c.518C>T (p.Thr173Ile)	PRSS53 (T173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219910	NM_001039503.3(PRSS53):c.505G>A (p.Asp169Asn)	PRSS53 (D169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268480	NM_001039503.3(PRSS53):c.400C>T (p.Leu134Phe)	PRSS53 (L134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537899	NM_001039503.3(PRSS53):c.296G>A (p.Arg99His)	PRSS53 (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219908	NM_001039503.3(PRSS53):c.293A>C (p.Gln98Pro)	PRSS53 (Q98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219907	NM_001039503.3(PRSS53):c.190G>A (p.Gly64Ser)	PRSS53 (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617569	NM_001039503.3(PRSS53):c.128C>T (p.Thr43Ile)	PRSS53 (T43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219904	NM_001039503.3(PRSS53):c.109A>G (p.Lys37Glu)	PRSS53 (K37E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 369110	NC_000016.10:g.31087679C>T	PRSS53, VKORC1 (G34S)	Single nucleotide variant (missense variant)	Vitamin K-Dependent Clotting Factors +1 more	GBenign
Select item 3310720	NM_001039503.3(PRSS53):c.91C>T (p.Arg31Cys)	PRSS53 (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219909	NM_001039503.3(PRSS53):c.40G>A (p.Ala14Thr)	PRSS53 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65