Full data view for gene ZFYVE26

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

207 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-70A>T r.(?) p.(=) Unknown - benign g.68282750T>A g.67816033T>A - - ZFYVE26_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6T>A r.(?) p.(Asn2Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.102del r.(?) p.(Cys35ValfsTer16) Unknown - likely pathogenic g.68282579del - ZFYVE26(NM_015346.3):c.102delA (p.C35Vfs*16) - RAD51B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A r.(?) p.(Glu41Lys) Unknown - VUS g.68282560C>T - ZFYVE26(NM_015346.3):c.121G>A (p.(Glu41Lys)) - RAD51B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122A>T r.(?) p.(Glu41Val) Unknown - VUS g.68282559T>A - ZFYVE26(NM_015346.3):c.122A>T (p.(Glu41Val)) - RAD51B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.273+13A>G r.(=) p.(=) Unknown - VUS g.68280690T>C - ZFYVE26(NM_015346.3):c.273+13A>G - ZFYVE26_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273+13A>G r.(=) p.(=) Unknown - likely benign g.68280690T>C - ZFYVE26(NM_015346.3):c.273+13A>G - ZFYVE26_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361G>A r.(?) p.(Glu121Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.361G>A r.(?) p.(Glu121Lys) Unknown - likely benign g.68275919C>T - ZFYVE26(NM_015346.3):c.361G>A (p.E121K, p.(Glu121Lys)) - ZFYVE26_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.443G>T r.(?) p.(Arg148Leu) Unknown - VUS g.68274558C>A - ZFYVE26(NM_015346.4):c.443G>T (p.(Arg148Leu)) - ZFYVE26_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593G>A r.(?) p.(Arg198Gln) Unknown - likely benign g.68274408C>T g.67807691C>T ZFYVE26(NM_015346.3):c.593G>A (p.R198Q), ZFYVE26(NM_015346.4):c.593G>A (p.(Arg198Gln)) - ZFYVE26_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593G>A r.(?) p.(Arg198Gln) Unknown - VUS g.68274408C>T - ZFYVE26(NM_015346.3):c.593G>A (p.R198Q), ZFYVE26(NM_015346.4):c.593G>A (p.(Arg198Gln)) - ZFYVE26_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.605G>A r.(?) p.(Arg202Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626C>T r.(?) p.(Ser209Leu) Unknown - likely benign g.68274375G>A - ZFYVE26(NM_015346.3):c.626C>T (p.S209L) - ZFYVE26_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.662C>G r.(?) p.(Ala221Gly) Unknown - VUS g.68274339G>C g.67807622G>C - - ZFYVE26_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677G>A r.(?) p.(Arg226His) Unknown - likely benign g.68274324C>T g.67807607C>T ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His)) - ZFYVE26_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677G>A r.(?) p.(Arg226His) Unknown - likely benign g.68274324C>T g.67807607C>T ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His)) - ZFYVE26_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677G>A r.(?) p.(Arg226His) Unknown - likely benign g.68274324C>T - ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His)) - ZFYVE26_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686C>A r.(?) p.(Ala229Glu) Unknown - VUS g.68274315G>T - ZFYVE26(NM_015346.4):c.686C>A (p.A229E) - ZFYVE26_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.748G>A r.(?) p.(Glu250Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748G>A r.(?) p.(Glu250Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987C>T r.(?) p.(Ser329=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1093del r.(?) p.(Leu365SerfsTer16) Both (homozygous) - pathogenic (recessive) g.68272263del g.67805546del - - ZFYVE26_000118 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamAPatIV2 PubMed: Saadi 2023 5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.1093del r.(?) p.(Leu365SerfsTer16) Both (homozygous) - pathogenic (recessive) g.68272263del g.67805546del - - ZFYVE26_000118 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamAPatIV3 PubMed: Saadi 2023 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1093del r.(?) p.(Leu365SerfsTer16) Both (homozygous) - pathogenic (recessive) g.68272263del g.67805546del - - ZFYVE26_000118 ACMG PVS1, PM2, PP1, PP4 PubMed: Saadi 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamAPatV1 PubMed: Saadi 2023 nephew F yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.1178C>A r.(?) p.(Thr393Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1184G>T r.(?) p.(Gly395Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1184G>T r.(?) p.(Gly395Val) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1184G>T r.(?) p.(Gly395Val) Unknown - likely benign g.68272021C>A - ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val)) - ZFYVE26_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1224G>T r.(?) p.(=) Unknown - benign g.68271981C>A - ZFYVE26(NM_015346.4):c.1224G>T (p.(Gly408=)) - ZFYVE26_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1261C>T r.(?) p.(Gln421Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1343_1344del r.(?) p.(Leu448ProfsTer31) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387C>T r.(?) p.(Leu463Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1420C>T r.(?) p.(Pro474Ser) Unknown - likely benign g.68270833G>A - ZFYVE26(NM_015346.3):c.1420C>T (p.P474S) - ZFYVE26_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1564C>A r.(?) p.(Gln522Lys) Unknown - VUS g.68268871G>T - ZFYVE26(NM_015346.4):c.1564C>A (p.Q522K) - ZFYVE26_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1597G>A r.(?) p.(Ala533Thr) Unknown - likely benign g.68268838C>T - ZFYVE26(NM_015346.4):c.1597G>A (p.(Ala533Thr)) - ZFYVE26_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1630_1631del r.(?) p.(Ser544Leufs*24) Both (homozygous) - VUS g.68268811_68268812del g.67802094_67802095del - - ZFYVE26_000100 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR212 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.1737C>T r.(?) p.(Phe579=) Unknown - likely benign g.68265242G>A - ZFYVE26(NM_015346.3):c.1737C>T (p.F579=) - ZFYVE26_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1844C>T r.(?) p.(Ser615Phe) Unknown - likely benign g.68265135G>A g.67798418G>A ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe)) - ZFYVE26_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1844C>T r.(?) p.(Ser615Phe) Unknown - likely benign g.68265135G>A g.67798418G>A ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe)) - ZFYVE26_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1844C>T r.(?) p.(Ser615Phe) Parent #1 - likely benign g.68265135G>A g.67798418G>A - - ZFYVE26_000055 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117228915 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.1870G>A r.(?) p.(Ala624Thr) Unknown - likely benign g.68265109C>T - ZFYVE26(NM_015346.3):c.1870G>A (p.A624T) - ZFYVE26_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1913C>G r.(?) p.(Pro638Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1933A>G r.(?) p.(Met645Val) Unknown - likely benign g.68265046T>C g.67798329T>C ZFYVE26(NM_015346.3):c.1933A>G (p.M645V, p.(Met645Val)) - ZFYVE26_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1933A>G r.(?) p.(Met645Val) Unknown - likely benign g.68265046T>C - ZFYVE26(NM_015346.3):c.1933A>G (p.M645V, p.(Met645Val)) - ZFYVE26_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2030del r.(?) p.(Gly677AspfsTer9) Unknown - pathogenic g.68264950del g.67798233del ZFYVE26(NM_015346.3):c.2030delG (p.G677Dfs*9) - ZFYVE26_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2067C>T r.(?) p.(Leu689=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2084A>G r.(?) p.(Gln695Arg) Unknown - VUS g.68264895T>C - ZFYVE26(NM_015346.3):c.2084A>G (p.(Gln695Arg)) - ZFYVE26_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2112= r.(=) p.(Pro704=) Unknown - benign g.68264867A>G g.67798150A>G ZFYVE26(NM_015346.4):c.2112T>C (p.P704=) - ZFYVE26_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2112= r.(=) p.(Pro704=) Unknown - benign g.68264867A>G g.67798150A>G ZFYVE26(NM_015346.4):c.2112T>C (p.P704=) - ZFYVE26_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2251G>A r.(?) p.(Glu751Lys) Unknown - VUS g.68264470C>T - - - ZFYVE26_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2263C>T r.(?) p.(Arg755*) Both (homozygous) - pathogenic g.68264458G>A g.67797741G>A - - ZFYVE26_000037 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
-?/. - c.2332+7del r.(=) p.(=) Unknown - likely benign g.68264382del g.67797665del ZFYVE26(NM_015346.3):c.2332+7del (p.(=)) - ZFYVE26_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2357del r.(?) p.(Pro786HisfsTer10) Unknown - pathogenic g.68260934del g.67794217del ZFYVE26(NM_015346.4):c.2357delC (p.P786Hfs*10) - ZFYVE26_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2401+11T>A r.(=) p.(=) Unknown - benign g.68260877A>T g.67794160A>T - - ZFYVE26_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2402-3C>T r.spl? p.? Unknown - VUS g.68260479G>A - ZFYVE26(NM_015346.4):c.2402-3C>T - ZFYVE26_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2404G>T r.(?) p.(Gly802*) Unknown - likely pathogenic g.68260474C>A - ZFYVE26(NM_015346.4):c.2404G>T (p.(Gly802*)) - ZFYVE26_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2423C>G r.(?) p.(Ser808Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2486T>C r.(?) p.(Met829Thr) Unknown - VUS g.68260392A>G g.67793675A>G - - ZFYVE26_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2559G>A r.(?) p.(Leu853=) Unknown - benign g.68257485C>T g.67790768C>T - - ZFYVE26_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2585C>G r.(?) p.(Pro862Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2639T>G r.(?) p.(Leu880Arg) Unknown - VUS g.68257405A>C - ZFYVE26(NM_015346.3):c.2639T>G (p.L880R) - ZFYVE26_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2692A>T r.(?) p.(Thr898Ser) Unknown - benign g.68257352T>A g.67790635T>A - - ZFYVE26_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2826G>A r.(?) p.(Met942Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2826G>A r.(?) p.(Met942Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2834A>T r.(?) p.(Glu945Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2852C>T r.(?) p.(Thr951Met) Unknown - benign g.68256219G>A - ZFYVE26(NM_015346.4):c.2852C>T (p.(Thr951Met)) - ZFYVE26_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2853G>A r.(?) p.(Thr951=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2887G>C r.(?) p.(Val963Leu) Unknown - benign g.68256184C>G g.67789467C>G ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L) - ZFYVE26_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2887G>C r.(?) p.(Val963Leu) Unknown - likely benign g.68256184C>G g.67789467C>G ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L) - ZFYVE26_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2887G>C r.(?) p.(Val963Leu) Unknown - likely benign g.68256184C>G - ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L) - ZFYVE26_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3025C>G r.(?) p.(Arg1009Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3025C>T r.(?) p.(Arg1009Trp) Unknown - likely benign g.68252945G>A - ZFYVE26(NM_015346.4):c.3025C>T (p.(Arg1009Trp)) - ZFYVE26_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3031G>A r.(?) p.(Asp1011Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3051T>C r.(?) p.(Ala1017=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3051T>C r.(?) p.(Ala1017=) Unknown - likely benign g.68252919A>G - ZFYVE26(NM_015346.3):c.3051T>C (p.A1017=) - ZFYVE26_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3072A>G r.(?) p.(Pro1024=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3112C>T r.(?) p.(Leu1038Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3118T>A r.(?) p.(Ser1040Thr) Unknown - benign g.68252852A>T g.67786135A>T ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr)) - ZFYVE26_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3118T>A r.(?) p.(Ser1040Thr) Unknown - benign g.68252852A>T g.67786135A>T ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr)) - ZFYVE26_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3118T>A r.(?) p.(Ser1040Thr) Unknown - benign g.68252852A>T g.67786135A>T ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr)) - ZFYVE26_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3118T>A r.(?) p.(Ser1040Thr) Unknown - benign g.68252852A>T g.67786135A>T ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr)) - ZFYVE26_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3139+1G>A r.spl? p.? Unknown - pathogenic g.68252830C>T g.67786113C>T ZFYVE26(NM_015346.3):c.3139+1G>A - ZFYVE26_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3210C>G r.(?) p.(Pro1070=) Unknown - benign g.68252669G>C g.67785952G>C ZFYVE26(NM_015346.4):c.3210C>G (p.(Pro1070=)) - ZFYVE26_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3210C>G r.(?) p.(Pro1070=) Unknown - benign g.68252669G>C - ZFYVE26(NM_015346.4):c.3210C>G (p.(Pro1070=)) - ZFYVE26_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3210C>T r.(?) p.(Pro1070=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3228T>C r.(?) p.(Cys1076=) Unknown - likely benign g.68252651A>G - ZFYVE26(NM_015346.3):c.3228T>C (p.C1076=) - ZFYVE26_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3236G>A r.(?) p.(Ser1079Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3308C>T r.(?) p.(Pro1103Leu) Unknown - benign g.68251991G>A g.67785274G>A ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu)) - ZFYVE26_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3308C>T r.(?) p.(Pro1103Leu) Unknown - likely benign g.68251991G>A g.67785274G>A ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu)) - ZFYVE26_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3308C>T r.(?) p.(Pro1103Leu) Both (homozygous) - likely benign g.68251991G>A g.67785274G>A - - ZFYVE26_000047 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3742885 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-/. - c.3365C>T r.(?) p.(Ala1122Val) Unknown - benign g.68251934G>A g.67785217G>A ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val)) - ZFYVE26_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3365C>T r.(?) p.(Ala1122Val) Unknown - likely benign g.68251934G>A g.67785217G>A ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val)) - ZFYVE26_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3365C>T r.(?) p.(Ala1122Val) Parent #1 - likely benign g.68251934G>A g.67785217G>A - - ZFYVE26_000046 86 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3742884 Germline - 86/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 86 Mohammed Faruq
-?/. - c.3365C>T r.(?) p.(Ala1122Val) Both (homozygous) - likely benign g.68251934G>A g.67785217G>A - - ZFYVE26_000046 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3742884 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.3470G>C r.(?) p.(Ser1157Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3681C>T r.(?) p.(Ile1227=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3695G>C r.(?) p.(Cys1232Ser) Unknown - VUS g.68250174C>G - ZFYVE26(NM_015346.3):c.3695G>C (p.C1232S) - ZFYVE26_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3722G>A r.(?) p.(Arg1241Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3722G>A r.(?) p.(Arg1241Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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