CPA2[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999254, LOC129999255 +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 2254631	NM_001869.3(CPA2):c.44A>G (p.His15Arg)	CPA2 (H15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741169	NM_001869.3(CPA2):c.198C>T (p.His66=)	CPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783832	NM_001869.3(CPA2):c.199G>A (p.Val67Ile)	CPA2 (V67I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390675	NM_001869.3(CPA2):c.214G>A (p.Val72Ile)	CPA2 (V72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239829	NM_001869.3(CPA2):c.251A>G (p.Gln84Arg)	CPA2 (Q84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512120	NM_001869.3(CPA2):c.283G>A (p.Val95Met)	CPA2 (V95M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495353	NM_001869.3(CPA2):c.305A>T (p.Glu102Val)	CPA2 (E102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383485	NM_001869.3(CPA2):c.405C>G (p.Asn135Lys)	CPA2 (N135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320252	NM_001869.3(CPA2):c.409G>A (p.Val137Met)	CPA2 (V137M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364135	NM_001869.3(CPA2):c.424G>T (p.Gly142Cys)	CPA2 (G142C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388653	NM_001869.3(CPA2):c.434G>A (p.Ser145Asn)	CPA2 (S145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521095	NM_001869.3(CPA2):c.443A>T (p.Asn148Ile)	CPA2 (N148I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792089	NM_001869.3(CPA2):c.514A>G (p.Ile172Val)	CPA2 (I172V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237725	NM_001869.3(CPA2):c.515T>C (p.Ile172Thr)	CPA2 (I172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482449	NM_001869.3(CPA2):c.533T>C (p.Ile178Thr)	CPA2 (I178T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613977	NM_001869.3(CPA2):c.542G>A (p.Arg181Gln)	CPA2 (R181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227460	NM_001869.3(CPA2):c.598T>C (p.Tyr200His)	CPA2 (Y200H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548408	NM_001869.3(CPA2):c.619A>G (p.Thr207Ala)	CPA2 (T207A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481079	NM_001869.3(CPA2):c.701G>A (p.Arg234His)	CPA2 (R234H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248126	NM_001869.3(CPA2):c.719G>C (p.Arg240Pro)	CPA2 (R240P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385573	NM_001869.3(CPA2):c.726G>T (p.Lys242Asn)	CPA2 (K242N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221076	NM_001869.3(CPA2):c.877A>G (p.Ile293Val)	CPA2 (I293V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 146435	GRCh38/hg38 7q32.2(chr7:130282044-130490317)x1	CEP41, CPA1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2596669	NM_001869.3(CPA2):c.1006G>C (p.Ala336Pro)	CPA2 (A336P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211052	NM_001869.3(CPA2):c.1031A>C (p.His344Pro)	CPA2 (H344P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215731	NM_001869.3(CPA2):c.1033G>A (p.Gly345Ser)	CPA2 (G345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525027	NM_001869.3(CPA2):c.1214T>C (p.Leu405Pro)	CPA2 (L405P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264763	NM_001869.3(CPA2):c.1228A>G (p.Ile410Val)	CPA2 (I410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385744	NM_001869.3(CPA2):c.1244G>A (p.Arg415Gln)	CPA2 (R415Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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	MIR183, PARP12 +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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 54