ClinVar for Gene (Select 1360) - ClinVar

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

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269141	NM_001871.3(CPB1):c.676A>C (p.Thr226Pro)	CPB1 (T226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269138	NM_001871.3(CPB1):c.595C>T (p.Arg199Cys)	CPB1 (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3076593	NM_001871.3(CPB1):c.764A>G (p.Asp255Gly)	CPB1 (D255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076592	NM_001871.3(CPB1):c.394G>A (p.Val132Ile)	CPB1 (V132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076591	NM_001871.3(CPB1):c.224A>G (p.Asp75Gly)	CPB1 (D75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076590	NM_001871.3(CPB1):c.124C>T (p.Arg42Cys)	CPB1 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076589	NM_001871.3(CPB1):c.1195G>A (p.Glu399Lys)	CPB1 (E399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076588	NM_001871.3(CPB1):c.1027G>A (p.Gly343Ser)	CPB1 (G343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059113	NM_001871.3(CPB1):c.622G>A (p.Asp208Asn)	CPB1 (D208N)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 3039545	NM_001871.3(CPB1):c.516C>A (p.Asp172Glu)	CPB1 (D172E)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 3039170	NM_001871.3(CPB1):c.72C>T (p.Gly24=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder	GBenign
Select item 3037614	NM_001871.3(CPB1):c.694T>C (p.Phe232Leu)	CPB1 (F232L)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 3037191	NM_001871.3(CPB1):c.125G>A (p.Arg42His)	CPB1 (R42H)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 3034026	NM_001871.3(CPB1):c.193A>G (p.Ser65Gly)	CPB1 (S65G)	Single nucleotide variant (missense variant)	CPB1-related disorder	GLikely benign
Select item 3033459	NM_001871.3(CPB1):c.192C>T (p.His64=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder	GLikely benign
Select item 3024745	NM_001871.3(CPB1):c.584G>A (p.Arg195His)	CPB1 (R195H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654211	NM_001871.3(CPB1):c.687+6T>C	CPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654210	NM_001871.3(CPB1):c.396C>T (p.Val132=)	CPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619528	NM_001871.3(CPB1):c.577G>T (p.Ala193Ser)	CPB1 (A193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613978	NM_001871.3(CPB1):c.745G>A (p.Asp249Asn)	CPB1 (D249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605369	NM_001871.3(CPB1):c.394G>C (p.Val132Leu)	CPB1 (V132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600287	NM_001871.3(CPB1):c.209G>A (p.Arg70His)	CPB1 (R70H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597579	NM_001871.3(CPB1):c.794G>A (p.Arg265Gln)	CPB1 (R265Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591470	NM_001871.3(CPB1):c.709C>T (p.Arg237Cys)	CPB1 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547836	NM_001871.3(CPB1):c.1184G>A (p.Arg395Gln)	CPB1 (R395Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528668	NM_001871.3(CPB1):c.571A>G (p.Arg191Gly)	CPB1 (R191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463254	NM_001871.3(CPB1):c.980T>G (p.Leu327Trp)	CPB1 (L327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456664	NM_001871.3(CPB1):c.848C>G (p.Thr283Ser)	CPB1 (T283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354391	NM_001871.3(CPB1):c.817T>C (p.Cys273Arg)	CPB1 (C273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350380	NM_001871.3(CPB1):c.583C>T (p.Arg195Cys)	CPB1 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319666	NM_001871.3(CPB1):c.1072G>A (p.Ala358Thr)	CPB1 (A358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307308	NM_001871.3(CPB1):c.95T>C (p.Val32Ala)	CPB1 (V32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216199	NM_001871.3(CPB1):c.1139G>A (p.Arg380Gln)	CPB1 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809437	GRCh37/hg19 3q24(chr3:148498814-148767065)x3	CPA3, CPB1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	AGTR1, ANKUB1 +28 more	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 784026	NM_001871.3(CPB1):c.621C>T (p.Leu207=)	CPB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773139	NM_001871.3(CPB1):c.1182C>G (p.Ile394Met)	CPB1 (I394M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771355	NM_001871.3(CPB1):c.778+6T>C	CPB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685254	GRCh37/hg19 3q24(chr3:146996270-148622676)x1	AGTR1, CPA3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 562826	GRCh37/hg19 3q24(chr3:148533396-148610084)x1	CPA3, CPB1	Copy number loss	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 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: 57