Unique variants in the ZFYVE26 gene

Information The variants shown are described using the NM_015346.3 transcript reference sequence.

111 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-70A>T r.(?) p.(=) - benign g.68282750T>A g.67816033T>A - - ZFYVE26_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.6T>A r.(?) p.(Asn2Lys) - likely benign g.68282675A>T g.67815958A>T ZFYVE26(NM_015346.3):c.6T>A (p.N2K) - RAD51B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.102del r.(?) p.(Cys35ValfsTer16) - likely pathogenic g.68282579del - ZFYVE26(NM_015346.3):c.102delA (p.C35Vfs*16) - RAD51B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.273+13A>G r.(=) p.(=) - VUS g.68280690T>C - - - ZFYVE26_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.361G>A r.(?) p.(Glu121Lys) - likely benign, VUS g.68275919C>T g.67809202C>T ZFYVE26(NM_015346.3):c.361G>A (p.E121K, p.(Glu121Lys)) - ZFYVE26_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.593G>A r.(?) p.(Arg198Gln) - likely benign g.68274408C>T g.67807691C>T ZFYVE26(NM_015346.3):c.593G>A (p.R198Q) - ZFYVE26_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.605G>A r.(?) p.(Arg202Gln) - likely benign g.68274396C>T g.67807679C>T ZFYVE26(NM_015346.3):c.605G>A (p.R202Q) - ZFYVE26_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.626C>T r.(?) p.(Ser209Leu) - likely benign g.68274375G>A - ZFYVE26(NM_015346.3):c.626C>T (p.S209L) - ZFYVE26_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.662C>G r.(?) p.(Ala221Gly) - VUS g.68274339G>C g.67807622G>C - - ZFYVE26_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.677G>A r.(?) p.(Arg226His) - likely benign g.68274324C>T g.67807607C>T ZFYVE26(NM_015346.3):c.677G>A (p.R226H) - ZFYVE26_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.748G>A r.(?) p.(Glu250Lys) - benign, likely benign g.68274253C>T g.67807536C>T ZFYVE26(NM_015346.3):c.748G>A (p.E250K, p.(Glu250Lys)) - ZFYVE26_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.987C>T r.(?) p.(Ser329=) - likely benign g.68273292G>A g.67806575G>A ZFYVE26(NM_015346.3):c.987C>T (p.S329=) - ZFYVE26_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1178C>A r.(?) p.(Thr393Asn) - likely benign g.68272175G>T g.67805458G>T ZFYVE26(NM_015346.3):c.1178C>A (p.T393N) - ZFYVE26_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1184G>T r.(?) p.(Gly395Val) - likely benign, VUS g.68272021C>A g.67805304C>A ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val)) - ZFYVE26_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.1261C>T r.(?) p.(Gln421Ter) - pathogenic g.68271944G>A g.67805227G>A ZFYVE26(NM_015346.3):c.1261C>T (p.Q421*) - ZFYVE26_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1343_1344del r.(?) p.(Leu448ProfsTer31) - pathogenic g.68270912_68270913del g.67804195_67804196del ZFYVE26(NM_015346.3):c.1343_1344delTC (p.L448Pfs*31) - ZFYVE26_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1387C>T r.(?) p.(Leu463Phe) - VUS g.68270866G>A g.67804149G>A ZFYVE26(NM_015346.3):c.1387C>T (p.L463F) - ZFYVE26_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1420C>T r.(?) p.(Pro474Ser) - likely benign g.68270833G>A - ZFYVE26(NM_015346.3):c.1420C>T (p.P474S) - ZFYVE26_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1630_1631del r.(?) p.(Ser544Leufs*24) - VUS g.68268811_68268812del g.67802094_67802095del - - ZFYVE26_000100 - PubMed: Riazuddin 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1737C>T r.(?) p.(Phe579=) - likely benign g.68265242G>A - ZFYVE26(NM_015346.3):c.1737C>T (p.F579=) - ZFYVE26_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1844C>T r.(?) p.(Ser615Phe) - likely benign, VUS g.68265135G>A g.67798418G>A ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe)) - ZFYVE26_000055 7 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs117228915 CLASSIFICATION record, Germline - 7/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.1870G>A r.(?) p.(Ala624Thr) - likely benign g.68265109C>T - ZFYVE26(NM_015346.3):c.1870G>A (p.A624T) - ZFYVE26_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1913C>G r.(?) p.(Pro638Arg) - likely benign g.68265066G>C g.67798349G>C ZFYVE26(NM_015346.3):c.1913C>G (p.P638R) - ZFYVE26_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1933A>G r.(?) p.(Met645Val) - likely benign g.68265046T>C g.67798329T>C ZFYVE26(NM_015346.3):c.1933A>G (p.M645V) - ZFYVE26_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2030del r.(?) p.(Gly677AspfsTer9) - pathogenic g.68264950del g.67798233del ZFYVE26(NM_015346.3):c.2030delG (p.G677Dfs*9) - ZFYVE26_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2067C>T r.(?) p.(Leu689=) - likely benign g.68264912G>A g.67798195G>A ZFYVE26(NM_015346.3):c.2067C>T (p.L689=) - ZFYVE26_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2112= r.(=) p.(Pro704=) - benign g.68264867A>G g.67798150A>G ZFYVE26(NM_015346.3):c.2112T>C (p.P704=) - ZFYVE26_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.2263C>T r.(?) p.(Arg755*) - pathogenic g.68264458G>A g.67797741G>A - - ZFYVE26_000037 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.2332+7del r.(=) p.(=) - likely benign g.68264382del g.67797665del ZFYVE26(NM_015346.3):c.2332+7del (p.(=)) - ZFYVE26_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2357del r.(?) p.(Pro786HisfsTer10) - pathogenic g.68260934del g.67794217del ZFYVE26(NM_015346.3):c.2357delC (p.P786Hfs*10) - ZFYVE26_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2401+11T>A r.(=) p.(=) - benign g.68260877A>T g.67794160A>T - - ZFYVE26_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2423C>G r.(?) p.(Ser808Cys) - VUS g.68260455G>C g.67793738G>C ZFYVE26(NM_015346.3):c.2423C>G (p.S808C) - ZFYVE26_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2486T>C r.(?) p.(Met829Thr) - VUS g.68260392A>G g.67793675A>G - - ZFYVE26_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2559G>A r.(?) p.(Leu853=) - benign g.68257485C>T g.67790768C>T - - ZFYVE26_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2585C>G r.(?) p.(Pro862Arg) - VUS g.68257459G>C g.67790742G>C ZFYVE26(NM_015346.3):c.2585C>G (p.P862R) - ZFYVE26_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2639T>G r.(?) p.(Leu880Arg) - VUS g.68257405A>C - ZFYVE26(NM_015346.3):c.2639T>G (p.L880R) - ZFYVE26_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2692A>T r.(?) p.(Thr898Ser) - benign g.68257352T>A g.67790635T>A - - ZFYVE26_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.2826G>A r.(?) p.(Met942Ile) - benign g.68256245C>T g.67789528C>T ZFYVE26(NM_015346.3):c.2826G>A (p.M942I) - ZFYVE26_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.2834A>T r.(?) p.(Glu945Val) - VUS g.68256237T>A g.67789520T>A ZFYVE26(NM_015346.3):c.2834A>T (p.(Glu945Val)) - ZFYVE26_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2853G>A r.(?) p.(Thr951=) - likely benign g.68256218C>T g.67789501C>T ZFYVE26(NM_015346.3):c.2853G>A (p.T951=) - ZFYVE26_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.2887G>C r.(?) p.(Val963Leu) - benign, likely benign g.68256184C>G g.67789467C>G ZFYVE26(NM_015346.3):c.2887G>C (p.V963L) - ZFYVE26_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.3025C>G r.(?) p.(Arg1009Gly) - VUS g.68252945G>C g.67786228G>C ZFYVE26(NM_015346.3):c.3025C>G (p.R1009G) - ZFYVE26_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3031G>A r.(?) p.(Asp1011Asn) - VUS g.68252939C>T g.67786222C>T ZFYVE26(NM_015346.3):c.3031G>A (p.D1011N) - ZFYVE26_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3051T>C r.(?) p.(Ala1017=) - likely benign g.68252919A>G g.67786202A>G ZFYVE26(NM_015346.3):c.3051T>C (p.A1017=) - ZFYVE26_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3072A>G r.(?) p.(Pro1024=) - likely benign g.68252898T>C g.67786181T>C ZFYVE26(NM_015346.3):c.3072A>G (p.P1024=) - ZFYVE26_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3112C>T r.(?) p.(Leu1038Phe) - likely benign g.68252858G>A g.67786141G>A ZFYVE26(NM_015346.3):c.3112C>T (p.L1038F) - ZFYVE26_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.3118T>A r.(?) p.(Ser1040Thr) - benign g.68252852A>T g.67786135A>T ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T) - ZFYVE26_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.3139+1G>A r.spl? p.? - pathogenic g.68252830C>T g.67786113C>T ZFYVE26(NM_015346.3):c.3139+1G>A - ZFYVE26_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.3210C>G r.(?) p.(Pro1070=) - benign g.68252669G>C g.67785952G>C - - ZFYVE26_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3210C>T r.(?) p.(Pro1070=) - likely benign g.68252669G>A g.67785952G>A ZFYVE26(NM_015346.3):c.3210C>T (p.P1070=) - ZFYVE26_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3228T>C r.(?) p.(Cys1076=) - likely benign g.68252651A>G - ZFYVE26(NM_015346.3):c.3228T>C (p.C1076=) - ZFYVE26_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3236G>A r.(?) p.(Ser1079Asn) - likely benign g.68252643C>T g.67785926C>T ZFYVE26(NM_015346.3):c.3236G>A (p.S1079N) - ZFYVE26_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.3308C>T r.(?) p.(Pro1103Leu) - benign, likely benign g.68251991G>A g.67785274G>A ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu)) - ZFYVE26_000047 8 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs3742885 CLASSIFICATION record, Germline - 8/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
-/., -?/. 4 - c.3365C>T r.(?) p.(Ala1122Val) - benign, likely benign g.68251934G>A g.67785217G>A ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val)) - ZFYVE26_000046 2 homozygous; Clinindb (India), 86 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs3742884 CLASSIFICATION record, Germline - 2/2795 individuals, 86/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.3470G>C r.(?) p.(Ser1157Thr) - likely benign g.68251829C>G g.67785112C>G ZFYVE26(NM_015346.3):c.3470G>C (p.(Ser1157Thr)) - ZFYVE26_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3681C>T r.(?) p.(Ile1227=) - likely benign g.68250188G>A g.67783471G>A ZFYVE26(NM_015346.3):c.3681C>T (p.I1227=) - ZFYVE26_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3695G>C r.(?) p.(Cys1232Ser) - VUS g.68250174C>G - ZFYVE26(NM_015346.3):c.3695G>C (p.C1232S) - ZFYVE26_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.3722G>A r.(?) p.(Arg1241Gln) - likely benign g.68250147C>T g.67783430C>T ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln)) - ZFYVE26_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.3733C>A r.(?) p.(Gln1245Lys) - likely benign g.68250136G>T g.67783419G>T ZFYVE26(NM_015346.3):c.3733C>A (p.Q1245K) - ZFYVE26_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3757C>T r.(?) p.(Leu1253=) - benign g.68250112G>A g.67783395G>A - - ZFYVE26_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3781G>A r.(?) p.(Ala1261Thr) - likely benign g.68250088C>T - ZFYVE26(NM_015346.3):c.3781G>A (p.A1261T) - ZFYVE26_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3950C>T r.(?) p.(Thr1317Met) - likely benign g.68249919G>A g.67783202G>A ZFYVE26(NM_015346.3):c.3950C>T (p.T1317M) - ZFYVE26_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 21 c.3970T>A r.(?) p.(Ser1324Thr) - likely benign, VUS g.68249899A>T g.67783182A>T ZFYVE26(NM_015346.3):c.3970T>A (p.S1324T) - ZFYVE26_000074 VKGL data sharing initiative Nederland PubMed: Ganapathy 2019 ClinVar-RCV000380893.1 rs776708469 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.4066T>G r.(?) p.(Cys1356Gly) - likely benign g.68249803A>C g.67783086A>C ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G) - ZFYVE26_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4197C>T r.(?) p.(Thr1399=) - likely benign g.68249672G>A g.67782955G>A ZFYVE26(NM_015346.3):c.4197C>T (p.T1399=) - ZFYVE26_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4264G>A r.(?) p.(Val1422Met) - benign g.68249605C>T g.67782888C>T ZFYVE26(NM_015346.3):c.4264G>A (p.V1422M) - ZFYVE26_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.4293G>C r.(?) p.(Gln1431His) - likely benign, VUS g.68249576C>G g.67782859C>G ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His)) - ZFYVE26_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.4309G>A r.(?) p.(Gly1437Arg) - VUS g.68249560C>T g.67782843C>T ZFYVE26(NM_015346.3):c.4309G>A (p.G1437R) - ZFYVE26_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4324G>A r.(?) p.(Asp1442Asn) - likely benign g.68249545C>T - ZFYVE26(NM_015346.3):c.4324G>A (p.D1442N) - ZFYVE26_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.4370G>A r.(?) p.(Cys1457Tyr) - benign g.68249499C>T g.67782782C>T ZFYVE26(NM_015346.3):c.4370G>A (p.C1457Y) - ZFYVE26_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.4402G>A r.(?) p.(Val1468Met) - VUS g.68248217C>T g.67781500C>T - - ZFYVE26_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.4714A>T r.(?) p.(Ile1572Phe) - VUS g.68244926T>A - ZFYVE26(NM_015346.3):c.4714A>T (p.I1572F) - ZFYVE26_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.4734C>T r.(?) p.(Ile1578=) - likely benign g.68244906G>A g.67778189G>A ZFYVE26(NM_015346.3):c.4734C>T (p.I1578=) - ZFYVE26_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.4782T>C r.(?) p.(His1594=) - likely benign g.68244858A>G g.67778141A>G ZFYVE26(NM_015346.3):c.4782T>C (p.H1594=) - ZFYVE26_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.4854C>T r.(?) p.(Leu1618=) - likely benign g.68244396G>A g.67777679G>A ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=) - ZFYVE26_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.4937G>A r.(?) p.(Arg1646Gln) - VUS g.68244313C>T - ZFYVE26(NM_015346.3):c.4937G>A (p.R1646Q) - ZFYVE26_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5216G>T r.(?) p.(Arg1739Leu) - VUS g.68242582C>A g.67775865C>A ZFYVE26(NM_015346.3):c.5216G>T (p.R1739L) - ZFYVE26_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.5260G>A r.(?) p.(Ala1754Thr) - likely benign g.68241793C>T g.67775076C>T ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr)) - ZFYVE26_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.5401G>A r.(?) p.(Ala1801Thr) - likely benign g.68238847C>T g.67772130C>T ZFYVE26(NM_015346.3):c.5401G>A (p.A1801T) - ZFYVE26_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.5472G>A r.(?) p.(Glu1824=) - likely benign g.68238776C>T g.67772059C>T ZFYVE26(NM_015346.3):c.5472G>A (p.E1824=) - ZFYVE26_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5484+13G>A r.(=) p.(=) - likely benign g.68238751C>T g.67772034C>T ZFYVE26(NM_015346.3):c.5484+13G>A - ZFYVE26_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.5485-75C>T r.(=) p.(=) - benign g.68236522G>A g.67769805G>A ZFYVE26(NM_015346.3):c.5485-75C>T - ZFYVE26_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.5612G>A r.(?) p.(Cys1871Tyr) - benign, likely benign g.68236320C>T g.67769603C>T ZFYVE26(NM_015346.3):c.5612G>A (p.(Cys1871Tyr)) - ZFYVE26_000042 9 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61746722 CLASSIFICATION record, Germline - 9/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
-/. 2 - c.5672A>G r.(?) p.(Asn1891Ser) - benign g.68234539T>C g.67767822T>C ZFYVE26(NM_015346.3):c.5672A>G (p.N1891S) - ZFYVE26_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 2 - c.5678G>T r.(?) p.(Ser1893Ile) - benign g.68234533C>A g.67767816C>A - - ZFYVE26_000095 1 homozygous; Clinindb (India), 23 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34952009 Germline - 1/2794 individuals, 23/2794 individuals - - - Mohammed Faruq
?/. 1 - c.5767C>T r.(?) p.(Arg1923Trp) - VUS g.68234444G>A g.67767727G>A ZFYVE26(NM_015346.3):c.5767C>T (p.R1923W) - ZFYVE26_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.5791G>A r.(?) p.(Ala1931Thr) - VUS g.68233164C>T g.67766447C>T ZFYVE26(NM_015346.3):c.5791G>A (p.A1931T) - ZFYVE26_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.6086T>C r.(?) p.(Ile2029Thr) - likely benign g.68229462A>G g.67762745A>G ZFYVE26(NM_015346.3):c.6086T>C (p.I2029T) - ZFYVE26_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6153C>T r.(?) p.(Gly2051=) - likely benign g.68229395G>A - ZFYVE26(NM_015346.3):c.6153C>T (p.G2051=) - ZFYVE26_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6154G>A r.(?) p.(Val2052Ile) - VUS g.68229394C>T g.67762677C>T ZFYVE26(NM_015346.3):c.6154G>A (p.V2052I) - ZFYVE26_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6189C>T r.(?) p.(Thr2063=) - likely benign g.68229100G>A g.67762383G>A ZFYVE26(NM_015346.3):c.6189C>T (p.T2063=) - ZFYVE26_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6228C>T r.(?) p.(Ala2076=) - likely benign g.68229061G>A g.67762344G>A ZFYVE26(NM_015346.3):c.6228C>T (p.A2076=) - ZFYVE26_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6405G>A r.(?) p.(Leu2135=) - likely benign g.68228266C>T g.67761549C>T - - ZFYVE26_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.6507C>T r.(?) p.(Asn2169=) - likely benign g.68228164G>A g.67761447G>A ZFYVE26(NM_015346.3):c.6507C>T (p.N2169=) - ZFYVE26_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6629C>G r.(?) p.(Pro2210Arg) - VUS g.68222822G>C g.67756105G>C ZFYVE26(NM_015346.3):c.6629C>G (p.P2210R) - ZFYVE26_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 36 c.6692T>A r.(?) p.(Leu2231Ter) - likely pathogenic g.68222759A>T g.67756042A>T - - ZFYVE26_000101 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.6789C>T r.(?) p.(Asp2263=) - likely benign g.68221965G>A g.67755248G>A ZFYVE26(NM_015346.3):c.6789C>T (p.D2263=) - ZFYVE26_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.6819G>A r.(?) p.(Arg2273=) - benign g.68221935C>T g.67755218C>T ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=) - ZFYVE26_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.6849A>G r.(?) p.(Thr2283=) - likely benign g.68221905T>C g.67755188T>C ZFYVE26(NM_015346.3):c.6849A>G (p.T2283=) - ZFYVE26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.6987-3C>T r.spl? p.? - benign, likely benign g.68220932G>A g.67754215G>A ZFYVE26(NM_015346.3):c.6987-3C>T (p.?) - ZFYVE26_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »