CASP8AP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 2490048	NM_001137667.2(CASP8AP2):c.20A>G (p.Asn7Ser)	CASP8AP2 (N7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461570	NM_001137667.2(CASP8AP2):c.56C>G (p.Ala19Gly)	CASP8AP2 (A19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137657	NM_001137667.2(CASP8AP2):c.83G>C (p.Gly28Ala)	CASP8AP2 (G28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389066	NM_001137667.2(CASP8AP2):c.217T>C (p.Tyr73His)	CASP8AP2 (Y73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263458	NM_001137667.2(CASP8AP2):c.517G>A (p.Asp173Asn)	CASP8AP2 (D173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529895	NM_001137667.2(CASP8AP2):c.686G>T (p.Arg229Leu)	CASP8AP2 (R229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482549	NM_001137667.2(CASP8AP2):c.758G>A (p.Ser253Asn)	CASP8AP2 (S253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137656	NM_001137667.2(CASP8AP2):c.770G>C (p.Arg257Thr)	CASP8AP2 (R257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591611	NM_001137667.2(CASP8AP2):c.812G>A (p.Gly271Asp)	CASP8AP2 (G271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137658	NM_001137667.2(CASP8AP2):c.872A>G (p.Tyr291Cys)	CASP8AP2 (Y291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510023	NM_001137667.2(CASP8AP2):c.977C>A (p.Thr326Asn)	CASP8AP2 (T326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496402	NM_001137667.2(CASP8AP2):c.994C>T (p.His332Tyr)	CASP8AP2 (H332Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247993	NM_001137667.2(CASP8AP2):c.1336A>G (p.Ile446Val)	CASP8AP2 (I446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137627	NM_001137667.2(CASP8AP2):c.1352T>C (p.Val451Ala)	CASP8AP2 (V451A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137628	NM_001137667.2(CASP8AP2):c.1358C>T (p.Ala453Val)	CASP8AP2 (A453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263886	NM_001137667.2(CASP8AP2):c.1478C>T (p.Pro493Leu)	CASP8AP2 (P493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137629	NM_001137667.2(CASP8AP2):c.1535A>G (p.Lys512Arg)	CASP8AP2 (K512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331798	NM_001137667.2(CASP8AP2):c.1655A>C (p.Lys552Thr)	CASP8AP2 (K552T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263450	NM_001137667.2(CASP8AP2):c.1717C>A (p.Pro573Thr)	CASP8AP2 (P573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368881	NM_001137667.2(CASP8AP2):c.1718C>G (p.Pro573Arg)	CASP8AP2 (P573R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225884	NM_001137667.2(CASP8AP2):c.1753A>G (p.Ile585Val)	CASP8AP2 (I585V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262095	NM_001137667.2(CASP8AP2):c.1783G>C (p.Glu595Gln)	CASP8AP2 (E595Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137630	NM_001137667.2(CASP8AP2):c.1790C>T (p.Ser597Leu)	CASP8AP2 (S597L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137631	NM_001137667.2(CASP8AP2):c.1792A>G (p.Met598Val)	CASP8AP2 (M598V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263454	NM_001137667.2(CASP8AP2):c.1808T>C (p.Val603Ala)	CASP8AP2 (V603A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611050	NM_001137667.2(CASP8AP2):c.1853C>T (p.Ala618Val)	CASP8AP2 (A618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263456	NM_001137667.2(CASP8AP2):c.1906G>T (p.Val636Phe)	CASP8AP2 (V636F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224229	NM_001137667.2(CASP8AP2):c.1906G>A (p.Val636Ile)	CASP8AP2 (V636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476608	NM_001137667.2(CASP8AP2):c.1942A>G (p.Ile648Val)	CASP8AP2 (I648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315249	NM_001137667.2(CASP8AP2):c.1966G>A (p.Glu656Lys)	CASP8AP2 (E656K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388553	NM_001137667.2(CASP8AP2):c.2002A>G (p.Met668Val)	CASP8AP2 (M668V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474621	NM_001137667.2(CASP8AP2):c.2120G>A (p.Arg707Lys)	CASP8AP2 (R707K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137633	NM_001137667.2(CASP8AP2):c.2146G>A (p.Val716Ile)	CASP8AP2 (V716I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137634	NM_001137667.2(CASP8AP2):c.2203G>A (p.Asp735Asn)	CASP8AP2 (D735N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263446	NM_001137667.2(CASP8AP2):c.2228C>G (p.Ser743Cys)	CASP8AP2 (S743C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409264	NM_001137667.2(CASP8AP2):c.2297C>G (p.Pro766Arg)	CASP8AP2 (P766R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528769	NM_001137667.2(CASP8AP2):c.2344A>G (p.Asn782Asp)	CASP8AP2 (N782D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520391	NM_001137667.2(CASP8AP2):c.2368G>A (p.Val790Ile)	CASP8AP2 (V790I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264151	NM_001137667.2(CASP8AP2):c.2371A>G (p.Ile791Val)	CASP8AP2 (I791V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137635	NM_001137667.2(CASP8AP2):c.2375T>A (p.Val792Asp)	CASP8AP2 (V792D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247326	NM_001137667.2(CASP8AP2):c.2407C>G (p.Leu803Val)	CASP8AP2 (L803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137636	NM_001137667.2(CASP8AP2):c.2432C>T (p.Thr811Ile)	CASP8AP2 (T811I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137637	NM_001137667.2(CASP8AP2):c.2629C>T (p.Pro877Ser)	CASP8AP2 (P877S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137638	NM_001137667.2(CASP8AP2):c.2675C>T (p.Pro892Leu)	CASP8AP2 (P892L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263444	NM_001137667.2(CASP8AP2):c.2677A>G (p.Asn893Asp)	CASP8AP2 (N893D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317138	NM_001137667.2(CASP8AP2):c.2692A>G (p.Thr898Ala)	CASP8AP2 (T898A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263447	NM_001137667.2(CASP8AP2):c.2750A>T (p.Asp917Val)	CASP8AP2 (D917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404891	NM_001137667.2(CASP8AP2):c.2855A>G (p.Glu952Gly)	CASP8AP2 (E952G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137639	NM_001137667.2(CASP8AP2):c.2869C>A (p.Arg957Ser)	CASP8AP2 (R957S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255557	NM_001137667.2(CASP8AP2):c.2873G>C (p.Arg958Thr)	CASP8AP2 (R958T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377391	NM_001137667.2(CASP8AP2):c.2890C>T (p.Arg964Trp)	CASP8AP2 (R964W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277882	NM_001137667.2(CASP8AP2):c.2914C>T (p.Arg972Cys)	CASP8AP2 (R972C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299907	NM_001137667.2(CASP8AP2):c.2956A>T (p.Thr986Ser)	CASP8AP2 (T986S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263452	NM_001137667.2(CASP8AP2):c.2960A>G (p.His987Arg)	CASP8AP2 (H987R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137640	NM_001137667.2(CASP8AP2):c.2995A>G (p.Lys999Glu)	CASP8AP2 (K999E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292429	NM_001137667.2(CASP8AP2):c.3053G>A (p.Ser1018Asn)	CASP8AP2 (S1018N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369156	NM_001137667.2(CASP8AP2):c.3056C>A (p.Thr1019Asn)	CASP8AP2 (T1019N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263448	NM_001137667.2(CASP8AP2):c.3257A>G (p.His1086Arg)	CASP8AP2 (H1086R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316343	NM_001137667.2(CASP8AP2):c.3307A>G (p.Ile1103Val)	CASP8AP2 (I1103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266170	NM_001137667.2(CASP8AP2):c.3311A>G (p.Glu1104Gly)	CASP8AP2 (E1104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137641	NM_001137667.2(CASP8AP2):c.3353G>A (p.Arg1118His)	CASP8AP2 (R1118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464323	NM_001137667.2(CASP8AP2):c.3440A>G (p.Lys1147Arg)	CASP8AP2 (K1147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137642	NM_001137667.2(CASP8AP2):c.3442A>G (p.Lys1148Glu)	CASP8AP2 (K1148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398789	NM_001137667.2(CASP8AP2):c.3549T>G (p.Ser1183Arg)	CASP8AP2 (S1183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211092	NM_001137667.2(CASP8AP2):c.3600A>C (p.Glu1200Asp)	CASP8AP2 (E1200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137643	NM_001137667.2(CASP8AP2):c.3613T>C (p.Tyr1205His)	CASP8AP2 (Y1205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341746	NM_001137667.2(CASP8AP2):c.3625G>T (p.Val1209Leu)	CASP8AP2 (V1209L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329722	NM_001137667.2(CASP8AP2):c.3638A>G (p.Lys1213Arg)	CASP8AP2 (K1213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137644	NM_001137667.2(CASP8AP2):c.3647A>G (p.Glu1216Gly)	CASP8AP2 (E1216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488254	NM_001137667.2(CASP8AP2):c.3699T>G (p.Ile1233Met)	CASP8AP2 (I1233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274334	NM_001137667.2(CASP8AP2):c.3715A>G (p.Ile1239Val)	CASP8AP2 (I1239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137645	NM_001137667.2(CASP8AP2):c.3730A>G (p.Ile1244Val)	CASP8AP2 (I1244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221850	NM_001137667.2(CASP8AP2):c.3770A>G (p.His1257Arg)	CASP8AP2 (H1257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369863	NM_001137667.2(CASP8AP2):c.3844A>C (p.Thr1282Pro)	CASP8AP2 (T1282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370191	NM_001137667.2(CASP8AP2):c.3851A>G (p.Lys1284Arg)	CASP8AP2 (K1284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320517	NM_001137667.2(CASP8AP2):c.3921T>G (p.Asp1307Glu)	CASP8AP2 (D1307E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137647	NM_001137667.2(CASP8AP2):c.4001G>A (p.Ser1334Asn)	CASP8AP2 (S1334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364438	NM_001137667.2(CASP8AP2):c.4016A>C (p.Lys1339Thr)	CASP8AP2 (K1339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259671	NM_001137667.2(CASP8AP2):c.4078G>C (p.Glu1360Gln)	CASP8AP2 (E1360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251971	NM_001137667.2(CASP8AP2):c.4163C>T (p.Pro1388Leu)	CASP8AP2 (P1388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263451	NM_001137667.2(CASP8AP2):c.4246C>A (p.Pro1416Thr)	CASP8AP2 (P1416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340366	NM_001137667.2(CASP8AP2):c.4273G>A (p.Val1425Ile)	CASP8AP2 (V1425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517589	NM_001137667.2(CASP8AP2):c.4426C>T (p.His1476Tyr)	CASP8AP2 (H1476Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137648	NM_001137667.2(CASP8AP2):c.4439A>T (p.Asp1480Val)	CASP8AP2 (D1480V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333543	NM_001137667.2(CASP8AP2):c.4519A>G (p.Ser1507Gly)	CASP8AP2 (S1507G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263455	NM_001137667.2(CASP8AP2):c.4550T>C (p.Val1517Ala)	CASP8AP2 (V1517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263457	NM_001137667.2(CASP8AP2):c.4553C>A (p.Ala1518Asp)	CASP8AP2 (A1518D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137649	NM_001137667.2(CASP8AP2):c.4576A>C (p.Asn1526His)	CASP8AP2 (N1526H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311884	NM_001137667.2(CASP8AP2):c.4760G>T (p.Cys1587Phe)	CASP8AP2 (C1587F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263445	NM_001137667.2(CASP8AP2):c.4836T>A (p.His1612Gln)	CASP8AP2 (H1612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137650	NM_001137667.2(CASP8AP2):c.4867G>T (p.Val1623Phe)	CASP8AP2 (V1623F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570223	NM_001137667.2(CASP8AP2):c.4867G>C (p.Val1623Leu)	CASP8AP2 (V1623L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205746	NM_001137667.2(CASP8AP2):c.4985T>C (p.Ile1662Thr)	CASP8AP2 (I1662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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