CPB1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 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 3039170	NM_001871.3(CPB1):c.72C>T (p.Gly24=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder	GBenign
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 3076590	NM_001871.3(CPB1):c.124C>T (p.Arg42Cys)	CPB1 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3033459	NM_001871.3(CPB1):c.192C>T (p.His64=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder	GLikely benign
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 2600287	NM_001871.3(CPB1):c.209G>A (p.Arg70His)	CPB1 (R70H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3076592	NM_001871.3(CPB1):c.394G>A (p.Val132Ile)	CPB1 (V132I)	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 2654210	NM_001871.3(CPB1):c.396C>T (p.Val132=)	CPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2528668	NM_001871.3(CPB1):c.571A>G (p.Arg191Gly)	CPB1 (R191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2350380	NM_001871.3(CPB1):c.583C>T (p.Arg195Cys)	CPB1 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024745	NM_001871.3(CPB1):c.584G>A (p.Arg195His)	CPB1 (R195H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 784026	NM_001871.3(CPB1):c.621C>T (p.Leu207=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder +1 more	GBenign/Likely benign
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 3269141	NM_001871.3(CPB1):c.676A>C (p.Thr226Pro)	CPB1 (T226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654211	NM_001871.3(CPB1):c.687+6T>C	CPB1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 2591470	NM_001871.3(CPB1):c.709C>T (p.Arg237Cys)	CPB1 (R237C)	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 3076593	NM_001871.3(CPB1):c.764A>G (p.Asp255Gly)	CPB1 (D255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771355	NM_001871.3(CPB1):c.778+6T>C	CPB1	Single nucleotide variant (intron variant)	CPB1-related disorder +1 more	GBenign
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 2354391	NM_001871.3(CPB1):c.817T>C (p.Cys273Arg)	CPB1 (C273R)	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 2463254	NM_001871.3(CPB1):c.980T>G (p.Leu327Trp)	CPB1 (L327W)	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 2319666	NM_001871.3(CPB1):c.1072G>A (p.Ala358Thr)	CPB1 (A358T)	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 773139	NM_001871.3(CPB1):c.1182C>G (p.Ile394Met)	CPB1 (I394M)	Single nucleotide variant (missense variant)	CPB1-related disorder +1 more	GBenign
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 3076589	NM_001871.3(CPB1):c.1195G>A (p.Glu399Lys)	CPB1 (E399K)	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 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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	EIF2A, ERICH6 +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)	CHST2, CLRN1 +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 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

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Items: 57