ClinVar for Gene (Select 1359) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269110	NM_001870.4(CPA3):c.218A>G (p.Lys73Arg)	CPA3 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269109	NM_001870.4(CPA3):c.529G>A (p.Ala177Thr)	CPA3 (A177T)	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 3076519	NM_001870.4(CPA3):c.818G>A (p.Arg273Gln)	CPA3 (R273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076518	NM_001870.4(CPA3):c.736A>G (p.Ile246Val)	CPA3 (I246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076517	NM_001870.4(CPA3):c.319A>C (p.Lys107Gln)	CPA3 (K107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076516	NM_001870.4(CPA3):c.166G>A (p.Ala56Thr)	CPA3 (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076515	NM_001870.4(CPA3):c.157T>C (p.Tyr53His)	CPA3 (Y53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076514	NM_001870.4(CPA3):c.1130T>C (p.Phe377Ser)	CPA3 (F377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076513	NM_001870.4(CPA3):c.1093T>C (p.Trp365Arg)	CPA3 (W365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076512	NM_001870.4(CPA3):c.1073T>C (p.Ile358Thr)	CPA3 (I358T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2621045	NM_001870.4(CPA3):c.575A>G (p.Gln192Arg)	CPA3 (Q192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617667	NM_001870.4(CPA3):c.400G>T (p.Asp134Tyr)	CPA3 (D134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570238	NM_001870.4(CPA3):c.59G>A (p.Arg20His)	CPA3 (R20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565845	NM_001870.4(CPA3):c.334G>A (p.Gly112Ser)	CPA3 (G112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464307	NM_001870.4(CPA3):c.55G>A (p.Val19Ile)	CPA3 (V19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457585	NM_001870.4(CPA3):c.1001G>A (p.Gly334Asp)	CPA3 (G334D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408861	NM_001870.4(CPA3):c.349G>A (p.Ala117Thr)	CPA3 (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370330	NM_001870.4(CPA3):c.311T>C (p.Phe104Ser)	CPA3 (F104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368188	NM_001870.4(CPA3):c.401A>C (p.Asp134Ala)	CPA3 (D134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318432	NM_001870.4(CPA3):c.748C>T (p.Leu250Phe)	CPA3 (L250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294779	NM_001870.4(CPA3):c.1165C>T (p.Leu389Phe)	CPA3 (L389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292404	NM_001870.4(CPA3):c.692G>A (p.Arg231His)	CPA3 (R231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291942	NM_001870.4(CPA3):c.1136T>G (p.Leu379Arg)	CPA3 (L379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246187	NM_001870.4(CPA3):c.624C>A (p.Asp208Glu)	CPA3 (D208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222375	NM_001870.4(CPA3):c.1034G>A (p.Arg345His)	CPA3 (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215179	NM_001870.4(CPA3):c.1033C>T (p.Arg345Cys)	CPA3 (R345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206616	NM_001870.4(CPA3):c.280C>T (p.His94Tyr)	CPA3 (H94Y)	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	P2RY13, WWTR1 +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 770894	NM_001870.4(CPA3):c.848C>T (p.Thr283Met)	CPA3 (T283M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770707	NM_001870.4(CPA3):c.612C>G (p.Thr204=)	CPA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740759	NM_001870.4(CPA3):c.447T>G (p.Val149=)	CPA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708072	NM_001870.4(CPA3):c.818G>C (p.Arg273Pro)	CPA3 (R273P)	Single nucleotide variant (missense 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

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Links from Gene

Items: 52