Full data view for gene ZFYVE27

Information The variants shown are described using the NM_144588.6 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-1G>A r.(?) p.(=) Unknown - benign g.99498234G>A g.97738477G>A ZFYVE27(NM_144588.7):c.-1G>A - ZFYVE27_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - benign g.99498266C>T g.97738509C>T ZFYVE27(NM_144588.6):c.32C>T (p.P11L) - ZFYVE27_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>A r.(?) p.(Val17Met) Unknown - likely benign g.99498283G>A - ZFYVE27(NM_144588.6):c.49G>A (p.V17M) - ZFYVE27_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62C>T r.(?) p.(Ala21Val) Unknown - likely benign g.99498296C>T g.97738539C>T ZFYVE27(NM_001002261.3):c.62C>T (p.(Ala21Val)), ZFYVE27(NM_144588.6):c.62C>T (p.A21V), ZFYVE27(NM_144588.7):c.62C>T (p.A21V) - ZFYVE27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62C>T r.(?) p.(Ala21Val) Unknown - likely benign g.99498296C>T g.97738539C>T ZFYVE27(NM_001002261.3):c.62C>T (p.(Ala21Val)), ZFYVE27(NM_144588.6):c.62C>T (p.A21V), ZFYVE27(NM_144588.7):c.62C>T (p.A21V) - ZFYVE27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.62C>T r.(?) p.(Ala21Val) Unknown - benign g.99498296C>T - ZFYVE27(NM_001002261.3):c.62C>T (p.(Ala21Val)), ZFYVE27(NM_144588.6):c.62C>T (p.A21V), ZFYVE27(NM_144588.7):c.62C>T (p.A21V) - ZFYVE27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(?) p.(Leu42=) Unknown - likely benign g.99498360C>T g.97738603C>T ZFYVE27(NM_144588.6):c.126C>T (p.L42=) - ZFYVE27_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(=) p.(=) Parent #1 - likely benign g.99498360C>T g.97738603C>T - - ZFYVE27_000003 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17419023 Germline - 17/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
?/. - c.149A>G r.(?) p.(Tyr50Cys) Unknown - VUS g.99498383A>G g.97738626A>G ZFYVE27(NM_144588.6):c.149A>G (p.Y50C) - ZFYVE27_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244G>A r.(?) p.(Val82Ile) Unknown - benign g.99502897G>A g.97743140G>A ZFYVE27(NM_144588.7):c.244G>A (p.V82I) - ZFYVE27_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.378G>A r.(=) p.(=) Parent #1 - likely benign g.99504595G>A g.97744838G>A - - ZFYVE27_000017 208 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75060573 Germline - 208/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 208 Mohammed Faruq
-?/. - c.378G>A r.(=) p.(=) Both (homozygous) - likely benign g.99504595G>A g.97744838G>A - - ZFYVE27_000017 11 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75060573 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-/. - c.413G>T r.(?) p.(Gly138Val) Unknown - benign g.99504630G>T g.97744873G>T ZFYVE27(NM_144588.7):c.413G>T (p.G138V) - ZFYVE27_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.516C>T r.(?) p.(Arg172=) Unknown - benign g.99508086C>T g.97748329C>T ZFYVE27(NM_144588.6):c.516C>T (p.R172=) - ZFYVE27_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.541G>A r.(?) p.(Val181Met) Unknown - likely benign g.99508111G>A - ZFYVE27(NM_001002261.3):c.541G>A (p.V181M) - ZFYVE27_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.572G>T r.(?) p.(Gly191Val) Unknown - benign g.99509251G>T g.97749494G>T ZFYVE27(NM_001002261.3):c.572G>T (p.G191V), ZFYVE27(NM_144588.7):c.572G>T (p.G191V) - ZFYVE27_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572G>T r.(?) p.(Gly191Val) Parent #1 - VUS g.99509251G>T g.97749494G>T - - ZFYVE27_000012 conflicting interpretations of pathogenicity; 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35077384 Germline - 24/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
-/. - c.572G>T r.(?) p.(Gly191Val) Unknown - benign g.99509251G>T - ZFYVE27(NM_001002261.3):c.572G>T (p.G191V), ZFYVE27(NM_144588.7):c.572G>T (p.G191V) - ZFYVE27_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.665-20G>T r.(=) p.(=) Unknown - benign g.99510068G>T g.97750311G>T ZFYVE27(NM_144588.7):c.665-20G>T - ZFYVE27_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668T>G r.(?) p.(Val223Gly) Unknown - likely benign g.99510091T>G g.97750334T>G - - ZFYVE27_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682G>A r.(?) p.(Ala228Thr) Unknown - VUS g.99510105G>A g.97750348G>A ZFYVE27(NM_144588.6):c.682G>A (p.A228T) - ZFYVE27_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700A>G r.(?) p.(Met234Val) Unknown - likely benign g.99510123A>G g.97750366A>G ZFYVE27(NM_144588.6):c.700A>G (p.M234V) - ZFYVE27_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.782C>T r.(?) p.(Thr261Met) Unknown - VUS g.99510205C>T g.97750448C>T ZFYVE27(NM_144588.6):c.782C>T (p.T261M) - ZFYVE27_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881C>A r.(?) p.(Thr294Asn) Unknown - VUS g.99512618C>A - ZFYVE27(NM_001002261.4):c.896C>A (p.T299N) - ZFYVE27_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.897+5G>A r.spl? p.? Unknown - VUS g.99512639G>A - - - ZFYVE27_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142A>G r.(?) p.(Lys381Arg) Unknown - VUS g.99517451A>G - ZFYVE27(NM_144588.6):c.1142A>G (p.K381R) - ZFYVE27_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1172-1G>T r.spl? p.? Unknown - likely benign g.99518992G>T g.97759235G>T - - ZFYVE27_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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