CPA5[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 146435	GRCh38/hg38 7q32.2(chr7:130282044-130490317)x1	CEP41, CPA1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2537265	NM_080385.5(CPA5):c.26C>G (p.Thr9Arg)	CPA5 (T9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076537	NM_080385.5(CPA5):c.55C>G (p.Arg19Gly)	CPA5 (R19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258227	NM_080385.5(CPA5):c.95T>G (p.Leu32Trp)	CPA5 (L32W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370643	NM_080385.5(CPA5):c.131G>A (p.Arg44Gln)	CPA5 (R44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404621	NM_080385.5(CPA5):c.212G>A (p.Arg71His)	CPA5 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341629	NM_080385.5(CPA5):c.233T>C (p.Leu78Pro)	CPA5 (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076532	NM_080385.5(CPA5):c.250G>A (p.Val84Ile)	CPA5 (V84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076533	NM_080385.5(CPA5):c.317T>C (p.Met106Thr)	CPA5 (M106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269115	NM_080385.5(CPA5):c.376C>T (p.Arg126Trp)	CPA5 (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462516	NM_080385.5(CPA5):c.377G>A (p.Arg126Gln)	CPA5 (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509491	NM_080385.5(CPA5):c.386G>A (p.Arg129His)	CPA5 (R129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264415	NM_080385.5(CPA5):c.479T>C (p.Val160Ala)	CPA5 (V160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076534	NM_080385.5(CPA5):c.495T>G (p.Ile165Met)	CPA5 (I165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076535	NM_080385.5(CPA5):c.553C>T (p.Arg185Trp)	CPA5 (R185W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076536	NM_080385.5(CPA5):c.554G>A (p.Arg185Gln)	CPA5 (R185Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537156	NM_080385.5(CPA5):c.563C>T (p.Ala188Val)	CPA5 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531286	NM_080385.5(CPA5):c.595G>A (p.Glu199Lys)	CPA5 (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076539	NM_080385.5(CPA5):c.701T>C (p.Ile234Thr)	CPA5 (I234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349165	NM_080385.5(CPA5):c.760C>T (p.Arg254Trp)	CPA5 (R254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405315	NM_080385.5(CPA5):c.799G>A (p.Gly267Ser)	CPA5 (G267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598808	NM_080385.5(CPA5):c.859C>T (p.Pro287Ser)	CPA5 (P287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204897	NM_080385.5(CPA5):c.877C>G (p.His293Asp)	CPA5 (H293D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341197	NM_080385.5(CPA5):c.896C>T (p.Ser299Leu)	CPA5 (S299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076540	NM_080385.5(CPA5):c.925T>C (p.Phe309Leu)	CPA5 (F309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247096	NM_080385.5(CPA5):c.959T>C (p.Ile320Thr)	CPA5 (I320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316419	NM_080385.5(CPA5):c.1015C>T (p.Pro339Ser)	CPA5 (P339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490547	NM_080385.5(CPA5):c.1043A>G (p.Asp348Gly)	CPA5 (D348G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209610	NM_080385.5(CPA5):c.1067C>T (p.Ala356Val)	CPA5 (A356V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269114	NM_080385.5(CPA5):c.1118C>T (p.Thr373Ile)	CPA5 (T373I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257754	NM_080385.5(CPA5):c.1156T>C (p.Tyr386His)	CPA5 (Y386H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258226	NM_080385.5(CPA5):c.1178C>A (p.Ala393Asp)	CPA5 (A393D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292952	NM_080385.5(CPA5):c.1196G>A (p.Arg399Gln)	CPA5 (G371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076530	NM_080385.5(CPA5):c.1227G>A (p.Pro409=)	CPA5 (R381Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3076531	NM_080385.5(CPA5):c.1248G>A (p.Thr416=)	CPA5 (R388Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2531656	NM_080385.5(CPA5):c.1268C>T (p.Ala423Val)	CPA5 (A423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544722	NM_080385.5(CPA5):c.1279A>G (p.Ile427Val)	CPA5 (I427V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 1808208	GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1	CEP41, CHCHD3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 979795	GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3	CPA5, MEST +20 more	Copy number gain	not provided	GUncertain significance
Select item 815034	GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3	MIR29A, MIR335 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63