CPXM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	ABRAXAS2, ACADSB +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130004871, LOC130004872 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	LOC130004930, LOC130004931 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC110120892, LOC110120898 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	LOC130004912, LOC130004913 +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	ABRAXAS2, ACADSB +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57912	GRCh38/hg38 10q26.13(chr10:123232051-124032947)x3	CHST15, CPXM2 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	LOC132089760, LOC132089761 +318 more	Copy number loss	See cases	GPathogenic
Select item 2600749	NM_198148.3(CPXM2):c.2264G>A (p.Arg755His)	CPXM2 (R755H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346841	NM_198148.3(CPXM2):c.2243G>A (p.Arg748Gln)	CPXM2 (R748Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220907	NM_198148.3(CPXM2):c.2039G>A (p.Arg680His)	CPXM2 (R680H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459796	NM_198148.3(CPXM2):c.1928G>A (p.Gly643Asp)	CPXM2 (G643D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776549	NM_198148.3(CPXM2):c.1918-10T>C	CPXM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2365509	NM_198148.3(CPXM2):c.1888C>T (p.Arg630Trp)	CPXM2 (R630W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209958	NM_198148.3(CPXM2):c.1829A>G (p.Tyr610Cys)	CPXM2 (Y610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357426	NM_198148.3(CPXM2):c.1825A>G (p.Ile609Val)	CPXM2 (I609V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596161	NM_198148.3(CPXM2):c.1811G>A (p.Cys604Tyr)	CPXM2 (C604Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365742	NM_198148.3(CPXM2):c.1768G>A (p.Val590Ile)	CPXM2 (V590I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347942	NM_198148.3(CPXM2):c.1748A>G (p.Asn583Ser)	CPXM2 (N583S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768399	NM_198148.3(CPXM2):c.1730A>G (p.Lys577Arg)	CPXM2 (K577R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321746	NM_198148.3(CPXM2):c.1684A>G (p.Met562Val)	CPXM2 (M562V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228402	NM_198148.3(CPXM2):c.1645C>T (p.Arg549Cys)	CPXM2 (R549C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266369	NM_198148.3(CPXM2):c.1633G>A (p.Asp545Asn)	CPXM2 (D545N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470016	NM_198148.3(CPXM2):c.1472A>G (p.Asn491Ser)	CPXM2 (N491S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323071	NM_198148.3(CPXM2):c.1439A>G (p.Tyr480Cys)	CPXM2 (Y480C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564600	NM_198148.3(CPXM2):c.1432A>G (p.Asn478Asp)	CPXM2 (N478D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396402	NM_198148.3(CPXM2):c.1406G>A (p.Arg469Gln)	CPXM2 (R469Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2613287	NM_198148.3(CPXM2):c.1402G>T (p.Asp468Tyr)	CPXM2 (D468Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298216	NM_198148.3(CPXM2):c.1378A>G (p.Asn460Asp)	CPXM2 (N460D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397718	NM_198148.3(CPXM2):c.1273G>C (p.Asp425His)	CPXM2 (D425H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398134	NM_198148.3(CPXM2):c.1222G>A (p.Val408Ile)	CPXM2 (V408I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522251	NM_198148.3(CPXM2):c.1157G>A (p.Arg386Gln)	CPXM2 (R386Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291344	NM_198148.3(CPXM2):c.1127C>T (p.Ala376Val)	CPXM2 (A376V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566431	NM_198148.3(CPXM2):c.1120T>C (p.Tyr374His)	CPXM2 (Y374H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612695	NM_198148.3(CPXM2):c.1061A>T (p.Tyr354Phe)	CPXM2 (Y354F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544748	NM_198148.3(CPXM2):c.1040G>A (p.Ser347Asn)	CPXM2 (S347N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393721	NM_198148.3(CPXM2):c.1009A>G (p.Asn337Asp)	CPXM2 (N337D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325782	NM_198148.3(CPXM2):c.902A>G (p.Tyr301Cys)	CPXM2 (Y301C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454214	NM_198148.3(CPXM2):c.815G>A (p.Arg272His)	CPXM2 (R272H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235847	NM_198148.3(CPXM2):c.768C>G (p.Ile256Met)	CPXM2 (I256M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377061	NM_198148.3(CPXM2):c.685G>A (p.Val229Met)	CPXM2 (V229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271330	NM_198148.3(CPXM2):c.611G>A (p.Arg204Lys)	CPXM2 (R204K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2476501	NM_198148.3(CPXM2):c.560G>A (p.Gly187Glu)	CPXM2 (G187E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248525	NM_198148.3(CPXM2):c.538T>C (p.Tyr180His)	CPXM2 (Y180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787082	NM_198148.3(CPXM2):c.516G>A (p.Ala172=)	CPXM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258905	NM_198148.3(CPXM2):c.500G>C (p.Arg167Thr)	CPXM2 (R167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 221324	NM_198148.3(CPXM2):c.497G>A (p.Gly166Glu)	CPXM2 (G166E)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2396080	NM_198148.3(CPXM2):c.494G>A (p.Arg165Gln)	CPXM2 (R165Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316906	NM_198148.3(CPXM2):c.491A>G (p.His164Arg)	CPXM2 (H164R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219934	NM_198148.3(CPXM2):c.473G>T (p.Arg158Leu)	CPXM2 (R158L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298285	NM_198148.3(CPXM2):c.455A>T (p.His152Leu)	CPXM2 (H152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224111	NM_198148.3(CPXM2):c.386G>A (p.Arg129His)	CPXM2 (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530481	NM_198148.3(CPXM2):c.330G>A (p.Met110Ile)	CPXM2 (M110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619032	NM_198148.3(CPXM2):c.215G>C (p.Arg72Pro)	CPXM2 (R72P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271025	NM_198148.3(CPXM2):c.131A>C (p.Glu44Ala)	CPXM2 (E44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	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 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 1808596	GRCh37/hg19 10q26.13(chr10:125533464-125767436)x3	CHST15, CPXM2	Copy number gain	not provided	GUncertain significance
Select item 1808521	GRCh37/hg19 10q26.13(chr10:125535303-125763230)x3	CPXM2	Copy number gain	not provided	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 815381	GRCh37/hg19 10q26.13(chr10:125540129-125763230)x3	CPXM2	Copy number gain	not provided	GUncertain significance
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
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 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	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 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
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 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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