CPN1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 2589287	NM_001308.3(CPN1):c.1226C>T (p.Thr409Met)	CPN1 (T409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827594	NM_001308.3(CPN1):c.1219G>A (p.Glu407Lys)	CPN1 (E407K)	Single nucleotide variant (missense variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 2494704	NM_001308.3(CPN1):c.1150A>G (p.Ile384Val)	CPN1 (I384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369376	NM_001308.3(CPN1):c.1133G>A (p.Arg378Gln)	CPN1 (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076728	NM_001308.3(CPN1):c.1117C>T (p.His373Tyr)	CPN1 (H373Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398729	NM_001308.3(CPN1):c.982C>T (p.Arg328Trp)	CPN1 (R328W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076731	NM_001308.3(CPN1):c.976G>A (p.Gly326Ser)	CPN1 (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055820	NM_001308.3(CPN1):c.750C>T (p.Leu250=)	CPN1	Single nucleotide variant (synonymous variant)	CPN1-related disorder	GBenign
Select item 780887	NM_001308.3(CPN1):c.747G>A (p.Lys249=)	CPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558510	NM_001308.3(CPN1):c.698G>C (p.Arg233Pro)	CPN1 (R233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236703	NM_001308.3(CPN1):c.668A>G (p.Asn223Ser)	CPN1 (N223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379764	NM_001308.3(CPN1):c.641A>G (p.Asn214Ser)	CPN1 (N214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205257	NM_001308.3(CPN1):c.601A>C (p.Ile201Leu)	CPN1 (I201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614915	NM_001308.3(CPN1):c.583C>T (p.Pro195Ser)	CPN1 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593851	NM_001308.3(CPN1):c.560A>G (p.Asp187Gly)	CPN1 (D187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6623	NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)	CPN1 (G178D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3076729	NM_001308.3(CPN1):c.409G>T (p.Ala137Ser)	CPN1 (A137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607599	NM_001308.3(CPN1):c.367A>G (p.Ile123Val)	CPN1 (I123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305796	NM_001308.3(CPN1):c.343G>A (p.Val115Ile)	CPN1 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038291	NM_001308.3(CPN1):c.324G>C (p.Arg108=)	CPN1	Single nucleotide variant (synonymous variant)	CPN1-related disorder	GBenign
Select item 2373878	NM_001308.3(CPN1):c.322C>T (p.Arg108Trp)	CPN1 (R108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408239	NM_001308.3(CPN1):c.299C>T (p.Ser100Leu)	CPN1 (S100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328082	NM_001308.3(CPN1):c.269C>T (p.Ala90Val)	CPN1 (A90V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394324	NM_001308.3(CPN1):c.238A>G (p.Lys80Glu)	CPN1 (K80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514917	NM_001308.3(CPN1):c.221C>T (p.Pro74Leu)	CPN1 (P74L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 6622	NM_001308.3(CPN1):c.173dup (p.His59fs)	CPN1 (H59fs)	Duplication (frameshift variant)	Anaphylotoxin inactivator deficiency	GPathogenic
Select item 2298108	NM_001308.3(CPN1):c.170G>C (p.Gly57Ala)	CPN1 (G57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076727	NM_001308.3(CPN1):c.101C>T (p.Thr34Met)	CPN1 (T34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076730	NM_001308.3(CPN1):c.90T>A (p.Asp30Glu)	CPN1 (D30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253833	NM_001308.3(CPN1):c.71G>C (p.Arg24Pro)	CPN1 (R24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 47