ClinVar for Gene (Select 5652) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3310748	NM_002773.5(PRSS8):c.950C>G (p.Ala317Gly)	PRSS8 (A317G)	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 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 3219968	NM_002773.5(PRSS8):c.86G>A (p.Gly29Glu)	PRSS8 (G29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3219963	NM_002773.5(PRSS8):c.109T>C (p.Cys37Arg)	PRSS8 (C37R)	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 2549450	NM_002773.5(PRSS8):c.367C>A (p.His123Asn)	PRSS8 (H123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2220666	NM_002773.5(PRSS8):c.925C>T (p.His309Tyr)	PRSS8 (H309Y)	Single nucleotide variant (missense variant)	not specified	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 771199	NM_002773.5(PRSS8):c.23G>A (p.Gly8Glu)	PRSS8 (G8E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35