CSPG4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	ADPGK, ADPGK-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59384	GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1	CIMAP1C, CSPG4 +22 more	Copy number loss	See cases	GPathogenic
Select item 2492488	NM_001897.5(CSPG4):c.6961T>C (p.Trp2321Arg)	CSPG4 (W2321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339804	NM_001897.5(CSPG4):c.6926G>A (p.Arg2309Gln)	CSPG4 (R2309Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267011	NM_001897.5(CSPG4):c.6835G>A (p.Glu2279Lys)	CSPG4 (E2279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601477	NM_001897.5(CSPG4):c.6817G>A (p.Glu2273Lys)	CSPG4 (E2273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287655	NM_001897.5(CSPG4):c.6799G>C (p.Gly2267Arg)	CSPG4 (G2267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744383	NM_001897.5(CSPG4):c.6782C>A (p.Thr2261Asn)	CSPG4 (T2261N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3078332	NM_001897.5(CSPG4):c.6622G>A (p.Ala2208Thr)	CSPG4 (A2208T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078331	NM_001897.5(CSPG4):c.6547C>T (p.Arg2183Trp)	CSPG4 (R2183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209560	NM_001897.5(CSPG4):c.6538G>A (p.Glu2180Lys)	CSPG4 (E2180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366886	NM_001897.5(CSPG4):c.6515G>A (p.Ser2172Asn)	CSPG4 (S2172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374938	NM_001897.5(CSPG4):c.6505C>T (p.Arg2169Trp)	CSPG4 (R2169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237112	NM_001897.5(CSPG4):c.6451G>A (p.Val2151Ile)	CSPG4 (V2151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078330	NM_001897.5(CSPG4):c.6403C>T (p.Pro2135Ser)	CSPG4 (P2135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482499	NM_001897.5(CSPG4):c.6371G>C (p.Gly2124Ala)	CSPG4 (G2124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353782	NM_001897.5(CSPG4):c.6329T>C (p.Val2110Ala)	CSPG4 (V2110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078329	NM_001897.5(CSPG4):c.6286C>T (p.Arg2096Cys)	CSPG4 (R2096C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268843	NM_001897.5(CSPG4):c.6233G>A (p.Gly2078Asp)	CSPG4 (G2078D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333002	NM_001897.5(CSPG4):c.6227G>A (p.Arg2076His)	CSPG4 (R2076H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645568	NM_001897.5(CSPG4):c.5939G>A (p.Arg1980His)	CSPG4 (R1980H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2383250	NM_001897.5(CSPG4):c.5900G>A (p.Arg1967Gln)	CSPG4 (R1967Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388124	NM_001897.5(CSPG4):c.5873G>A (p.Arg1958His)	CSPG4 (R1958H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458685	NM_001897.5(CSPG4):c.5719G>A (p.Val1907Met)	CSPG4 (V1907M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614514	NM_001897.5(CSPG4):c.5707C>T (p.Arg1903Trp)	CSPG4 (R1903W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078328	NM_001897.5(CSPG4):c.5675C>G (p.Thr1892Ser)	CSPG4 (T1892S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078327	NM_001897.5(CSPG4):c.5665G>C (p.Gly1889Arg)	CSPG4 (G1889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724293	NM_001897.5(CSPG4):c.5646C>T (p.Ser1882=)	CSPG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344890	NM_001897.5(CSPG4):c.5624C>A (p.Ala1875Glu)	CSPG4 (A1875E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623690	NM_001897.5(CSPG4):c.5546C>T (p.Ala1849Val)	CSPG4 (A1849V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532139	NM_001897.5(CSPG4):c.5534G>A (p.Arg1845Gln)	CSPG4 (R1845Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368598	NM_001897.5(CSPG4):c.5434G>A (p.Val1812Met)	CSPG4 (V1812M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078326	NM_001897.5(CSPG4):c.5368G>A (p.Gly1790Ser)	CSPG4 (G1790S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249164	NM_001897.5(CSPG4):c.5347C>A (p.Gln1783Lys)	CSPG4 (Q1783K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528236	NM_001897.5(CSPG4):c.5290G>A (p.Glu1764Lys)	CSPG4 (E1764K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645569	NM_001897.5(CSPG4):c.5281T>C (p.Leu1761=)	CSPG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078325	NM_001897.5(CSPG4):c.5272G>A (p.Gly1758Ser)	CSPG4 (G1758S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495689	NM_001897.5(CSPG4):c.5270G>A (p.Arg1757Gln)	CSPG4 (R1757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516929	NM_001897.5(CSPG4):c.5218C>A (p.Pro1740Thr)	CSPG4 (P1740T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078324	NM_001897.5(CSPG4):c.5173G>A (p.Val1725Met)	CSPG4 (V1725M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332888	NM_001897.5(CSPG4):c.5156A>G (p.Gln1719Arg)	CSPG4 (Q1719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078323	NM_001897.5(CSPG4):c.5051G>A (p.Arg1684Gln)	CSPG4 (R1684Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332857	NM_001897.5(CSPG4):c.5050C>T (p.Arg1684Trp)	CSPG4 (R1684W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078322	NM_001897.5(CSPG4):c.4870C>T (p.Arg1624Trp)	CSPG4 (R1624W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710088	NM_001897.5(CSPG4):c.4862G>A (p.Arg1621His)	CSPG4 (R1621H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2614513	NM_001897.5(CSPG4):c.4831G>C (p.Ala1611Pro)	CSPG4 (A1611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215479	NM_001897.5(CSPG4):c.4805G>A (p.Ser1602Asn)	CSPG4 (S1602N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352882	NM_001897.5(CSPG4):c.4741C>T (p.Leu1581Phe)	CSPG4 (L1581F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078320	NM_001897.5(CSPG4):c.4724C>T (p.Thr1575Met)	CSPG4 (T1575M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466824	NM_001897.5(CSPG4):c.4676G>A (p.Arg1559His)	CSPG4 (R1559H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709978	NM_001897.5(CSPG4):c.4670G>A (p.Arg1557His)	CSPG4 (R1557H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2325008	NM_001897.5(CSPG4):c.4663G>C (p.Gly1555Arg)	CSPG4 (G1555R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078319	NM_001897.5(CSPG4):c.4625G>A (p.Gly1542Glu)	CSPG4 (G1542E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752124	NM_001897.5(CSPG4):c.4578G>A (p.Ala1526=)	CSPG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541887	NM_001897.5(CSPG4):c.4460G>C (p.Gly1487Ala)	CSPG4 (G1487A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379783	NM_001897.5(CSPG4):c.4456G>C (p.Glu1486Gln)	CSPG4 (E1486Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078318	NM_001897.5(CSPG4):c.4397T>C (p.Val1466Ala)	CSPG4 (V1466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409953	NM_001897.5(CSPG4):c.4340T>C (p.Met1447Thr)	CSPG4 (M1447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078316	NM_001897.5(CSPG4):c.4268G>A (p.Arg1423Lys)	CSPG4 (R1423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515482	NM_001897.5(CSPG4):c.4228G>A (p.Asp1410Asn)	CSPG4 (D1410N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561309	NM_001897.5(CSPG4):c.4205A>C (p.Gln1402Pro)	CSPG4 (Q1402P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513060	NM_001897.5(CSPG4):c.4150G>A (p.Gly1384Arg)	CSPG4 (G1384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078314	NM_001897.5(CSPG4):c.4127C>G (p.Ala1376Gly)	CSPG4 (A1376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349051	NM_001897.5(CSPG4):c.4085C>T (p.Ala1362Val)	CSPG4 (A1362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078313	NM_001897.5(CSPG4):c.4066G>A (p.Ala1356Thr)	CSPG4 (A1356T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402683	NM_001897.5(CSPG4):c.4033G>A (p.Glu1345Lys)	CSPG4 (E1345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463467	NM_001897.5(CSPG4):c.3971G>A (p.Arg1324His)	CSPG4 (R1324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078312	NM_001897.5(CSPG4):c.3901A>G (p.Ser1301Gly)	CSPG4 (S1301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369061	NM_001897.5(CSPG4):c.3874C>T (p.Arg1292Cys)	CSPG4 (R1292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266176	NM_001897.5(CSPG4):c.3823G>A (p.Val1275Ile)	CSPG4 (V1275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607082	NM_001897.5(CSPG4):c.3743A>T (p.Tyr1248Phe)	CSPG4 (Y1248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078311	NM_001897.5(CSPG4):c.3728G>A (p.Arg1243Gln)	CSPG4 (R1243Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337789	NM_001897.5(CSPG4):c.3706C>A (p.Leu1236Met)	CSPG4 (L1236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623524	NM_001897.5(CSPG4):c.3674C>T (p.Thr1225Ile)	CSPG4 (T1225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279339	NM_001897.5(CSPG4):c.3667G>A (p.Asp1223Asn)	CSPG4 (D1223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078310	NM_001897.5(CSPG4):c.3643G>C (p.Val1215Leu)	CSPG4 (V1215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331781	NM_001897.5(CSPG4):c.3593T>C (p.Leu1198Pro)	CSPG4 (L1198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331780	NM_001897.5(CSPG4):c.3592C>A (p.Leu1198Ile)	CSPG4 (L1198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283747	NM_001897.5(CSPG4):c.3580G>C (p.Asp1194His)	CSPG4 (D1194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551167	NM_001897.5(CSPG4):c.3568C>A (p.Gln1190Lys)	CSPG4 (Q1190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541047	NM_001897.5(CSPG4):c.3553A>G (p.Thr1185Ala)	CSPG4 (T1185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398730	NM_001897.5(CSPG4):c.3548C>G (p.Pro1183Arg)	CSPG4 (P1183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645570	NM_001897.5(CSPG4):c.3501C>T (p.His1167=)	CSPG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212921	NM_001897.5(CSPG4):c.3440C>T (p.Thr1147Met)	CSPG4 (T1147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398706	NM_001897.5(CSPG4):c.3347C>T (p.Ala1116Val)	CSPG4 (A1116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214206	NM_001897.5(CSPG4):c.3325G>A (p.Asp1109Asn)	CSPG4 (D1109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378123	NM_001897.5(CSPG4):c.3298C>T (p.Arg1100Cys)	CSPG4 (R1100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471360	NM_001897.5(CSPG4):c.3176C>A (p.Thr1059Asn)	CSPG4 (T1059N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389994	NM_001897.5(CSPG4):c.3159C>A (p.Asp1053Glu)	CSPG4 (D1053E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645571	NM_001897.5(CSPG4):c.3147G>A (p.Ser1049=)	CSPG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463300	NM_001897.5(CSPG4):c.3124G>T (p.Val1042Leu)	CSPG4 (V1042L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373304	NM_001897.5(CSPG4):c.3058G>A (p.Val1020Met)	CSPG4 (V1020M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295807	NM_001897.5(CSPG4):c.3011G>A (p.Arg1004Gln)	CSPG4 (R1004Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207886	NM_001897.5(CSPG4):c.3010C>T (p.Arg1004Trp)	CSPG4 (R1004W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261712	NM_001897.5(CSPG4):c.2725G>A (p.Val909Met)	CSPG4 (V909M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025049	NM_001897.5(CSPG4):c.2702T>G (p.Val901Gly)	CSPG4 (V901G)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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