ClinVar for Gene (Select 119587) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269322	NM_198148.3(CPXM2):c.1661C>T (p.Ser554Phe)	CPXM2 (S554F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269321	NM_198148.3(CPXM2):c.1109C>A (p.Pro370His)	CPXM2 (P370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269320	NM_198148.3(CPXM2):c.1994G>T (p.Gly665Val)	CPXM2 (G665V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269319	NM_198148.3(CPXM2):c.548C>T (p.Ala183Val)	CPXM2 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269318	NM_198148.3(CPXM2):c.1205C>T (p.Ala402Val)	CPXM2 (A402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269317	NM_198148.3(CPXM2):c.806G>A (p.Arg269His)	CPXM2 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269316	NM_198148.3(CPXM2):c.274G>A (p.Glu92Lys)	CPXM2 (E92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3076986	NM_198148.3(CPXM2):c.995A>G (p.Asn332Ser)	CPXM2 (N332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076985	NM_198148.3(CPXM2):c.836T>C (p.Phe279Ser)	CPXM2 (F279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076984	NM_198148.3(CPXM2):c.790G>T (p.Val264Phe)	CPXM2 (V264F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076983	NM_198148.3(CPXM2):c.257A>G (p.Lys86Arg)	CPXM2 (K86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076982	NM_198148.3(CPXM2):c.2231G>C (p.Arg744Pro)	CPXM2 (R744P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076981	NM_198148.3(CPXM2):c.1924C>T (p.Arg642Cys)	CPXM2 (R642C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076979	NM_198148.3(CPXM2):c.1678C>T (p.Arg560Cys)	CPXM2 (R560C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076978	NM_198148.3(CPXM2):c.1630G>A (p.Asp544Asn)	CPXM2 (D544N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076976	NM_198148.3(CPXM2):c.1327G>C (p.Gly443Arg)	CPXM2 (G443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076975	NM_198148.3(CPXM2):c.1181A>G (p.Gln394Arg)	CPXM2 (Q394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076974	NM_198148.3(CPXM2):c.1111G>A (p.Glu371Lys)	CPXM2 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076973	NM_198148.3(CPXM2):c.1099G>C (p.Val367Leu)	CPXM2 (V367L)	Single nucleotide variant (missense variant)	not specified	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 2681211	NM_198148.3(CPXM2):c.913C>T (p.Arg305Trp)	CPXM2 (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2619032	NM_198148.3(CPXM2):c.215G>C (p.Arg72Pro)	CPXM2 (R72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613287	NM_198148.3(CPXM2):c.1402G>T (p.Asp468Tyr)	CPXM2 (D468Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612695	NM_198148.3(CPXM2):c.1061A>T (p.Tyr354Phe)	CPXM2 (Y354F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600749	NM_198148.3(CPXM2):c.2264G>A (p.Arg755His)	CPXM2 (R755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596161	NM_198148.3(CPXM2):c.1811G>A (p.Cys604Tyr)	CPXM2 (C604Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2566431	NM_198148.3(CPXM2):c.1120T>C (p.Tyr374His)	CPXM2 (Y374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564600	NM_198148.3(CPXM2):c.1432A>G (p.Asn478Asp)	CPXM2 (N478D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544748	NM_198148.3(CPXM2):c.1040G>A (p.Ser347Asn)	CPXM2 (S347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530481	NM_198148.3(CPXM2):c.330G>A (p.Met110Ile)	CPXM2 (M110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522251	NM_198148.3(CPXM2):c.1157G>A (p.Arg386Gln)	CPXM2 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2476501	NM_198148.3(CPXM2):c.560G>A (p.Gly187Glu)	CPXM2 (G187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470016	NM_198148.3(CPXM2):c.1472A>G (p.Asn491Ser)	CPXM2 (N491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459796	NM_198148.3(CPXM2):c.1928G>A (p.Gly643Asp)	CPXM2 (G643D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454214	NM_198148.3(CPXM2):c.815G>A (p.Arg272His)	CPXM2 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398134	NM_198148.3(CPXM2):c.1222G>A (p.Val408Ile)	CPXM2 (V408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397718	NM_198148.3(CPXM2):c.1273G>C (p.Asp425His)	CPXM2 (D425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396402	NM_198148.3(CPXM2):c.1406G>A (p.Arg469Gln)	CPXM2 (R469Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396080	NM_198148.3(CPXM2):c.494G>A (p.Arg165Gln)	CPXM2 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393721	NM_198148.3(CPXM2):c.1009A>G (p.Asn337Asp)	CPXM2 (N337D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377061	NM_198148.3(CPXM2):c.685G>A (p.Val229Met)	CPXM2 (V229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365742	NM_198148.3(CPXM2):c.1768G>A (p.Val590Ile)	CPXM2 (V590I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365509	NM_198148.3(CPXM2):c.1888C>T (p.Arg630Trp)	CPXM2 (R630W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357426	NM_198148.3(CPXM2):c.1825A>G (p.Ile609Val)	CPXM2 (I609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347942	NM_198148.3(CPXM2):c.1748A>G (p.Asn583Ser)	CPXM2 (N583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346841	NM_198148.3(CPXM2):c.2243G>A (p.Arg748Gln)	CPXM2 (R748Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325782	NM_198148.3(CPXM2):c.902A>G (p.Tyr301Cys)	CPXM2 (Y301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323071	NM_198148.3(CPXM2):c.1439A>G (p.Tyr480Cys)	CPXM2 (Y480C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321746	NM_198148.3(CPXM2):c.1684A>G (p.Met562Val)	CPXM2 (M562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316906	NM_198148.3(CPXM2):c.491A>G (p.His164Arg)	CPXM2 (H164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298285	NM_198148.3(CPXM2):c.455A>T (p.His152Leu)	CPXM2 (H152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298216	NM_198148.3(CPXM2):c.1378A>G (p.Asn460Asp)	CPXM2 (N460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291344	NM_198148.3(CPXM2):c.1127C>T (p.Ala376Val)	CPXM2 (A376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271330	NM_198148.3(CPXM2):c.611G>A (p.Arg204Lys)	CPXM2 (R204K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271025	NM_198148.3(CPXM2):c.131A>C (p.Glu44Ala)	CPXM2 (E44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266369	NM_198148.3(CPXM2):c.1633G>A (p.Asp545Asn)	CPXM2 (D545N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258905	NM_198148.3(CPXM2):c.500G>C (p.Arg167Thr)	CPXM2 (R167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248525	NM_198148.3(CPXM2):c.538T>C (p.Tyr180His)	CPXM2 (Y180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235847	NM_198148.3(CPXM2):c.768C>G (p.Ile256Met)	CPXM2 (I256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228402	NM_198148.3(CPXM2):c.1645C>T (p.Arg549Cys)	CPXM2 (R549C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224111	NM_198148.3(CPXM2):c.386G>A (p.Arg129His)	CPXM2 (R129H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220907	NM_198148.3(CPXM2):c.2039G>A (p.Arg680His)	CPXM2 (R680H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219934	NM_198148.3(CPXM2):c.473G>T (p.Arg158Leu)	CPXM2 (R158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209958	NM_198148.3(CPXM2):c.1829A>G (p.Tyr610Cys)	CPXM2 (Y610C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 787082	NM_198148.3(CPXM2):c.516G>A (p.Ala172=)	CPXM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776549	NM_198148.3(CPXM2):c.1918-10T>C	CPXM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768399	NM_198148.3(CPXM2):c.1730A>G (p.Lys577Arg)	CPXM2 (K577R)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	INA, INPP5A +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 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, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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