PRSS8[gene] - ClinVar

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Items: 35

	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 3310748	NM_002773.5(PRSS8):c.950C>G (p.Ala317Gly)	PRSS8 (A317G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220666	NM_002773.5(PRSS8):c.925C>T (p.His309Tyr)	PRSS8 (H309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219970	NM_002773.5(PRSS8):c.914T>G (p.Leu305Arg)	PRSS8 (L305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219969	NM_002773.5(PRSS8):c.872G>A (p.Arg291His)	PRSS8 (R291H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219967	NM_002773.5(PRSS8):c.862C>T (p.Leu288Phe)	PRSS8 (L288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605025	NM_002773.5(PRSS8):c.622G>A (p.Asp208Asn)	PRSS8 (D208N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248841	NM_002773.5(PRSS8):c.526G>A (p.Val176Met)	PRSS8 (V176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229596	NM_002773.5(PRSS8):c.478G>A (p.Ala160Thr)	PRSS8 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549450	NM_002773.5(PRSS8):c.367C>A (p.His123Asn)	PRSS8 (H123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219965	NM_002773.5(PRSS8):c.284C>T (p.Ala95Val)	PRSS8 (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219964	NM_002773.5(PRSS8):c.267C>T (p.Ser89=)	PRSS8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2537114	NM_002773.5(PRSS8):c.121C>A (p.Pro41Thr)	PRSS8 (P41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219963	NM_002773.5(PRSS8):c.109T>C (p.Cys37Arg)	PRSS8 (C37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219968	NM_002773.5(PRSS8):c.86G>A (p.Gly29Glu)	PRSS8 (G29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771199	NM_002773.5(PRSS8):c.23G>A (p.Gly8Glu)	PRSS8 (G8E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3310749	NM_002773.5(PRSS8):c.16G>T (p.Val6Phe)	PRSS8 (V6F)	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 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 221518	GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4	BCKDK, KAT8 +2 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: 35