Full data view for gene ZFYVE19

Information The variants shown are described using the NM_001077268.1 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-36877G>C r.(?) p.(=) Unknown - likely benign g.41062911G>C - C15ORF62(NM_001130448.2):c.218G>C (p.(Arg73Pro)) - DNAJC17_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.118_122dup r.(118_122dup) - Both (homozygous) - benign g.41099905_41099909dup g.40807707_40807711dup 112_113insGGGGC - ZFYVE19_000002 variant suggests true translation initiation is at Met76 PubMed: Luan 2021 - rs142730574 Germline - 0.126 homozygotes ExAC - - - DNA SEQ - - Healthy/Control control - - - - - - - - - - 1 Johan den Dunnen
+/. - c.226A>G r.(?) p.(Met76Val) Paternal (confirmed) - likely pathogenic (recessive) g.41100013A>G g.40807815A>G - - ZFYVE19_000003 alternative translation initiation gives p.(Arg97*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam4 PubMed: Luan 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
?/. - c.300C>G r.(?) p.(=) Unknown - VUS g.41101337C>G - ZFYVE19(NM_001077268.2):c.300C>G (p.(Gly100=)) - DNAJC17_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.314C>G r.(?) p.(Ser105*) Both (homozygous) - likely pathogenic (recessive) g.41101351C>G g.40809153C>G - - ZFYVE19_000004 alternative translation initiation gives p.(Ser30*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam1 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - - - - 1 Johan den Dunnen
+/. - c.314C>G r.(?) p.(Ser105*) Maternal (confirmed) - likely pathogenic (recessive) g.41101351C>G g.40809153C>G - - ZFYVE19_000004 alternative translation initiation gives p.(Ser30*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam4 PubMed: Luan 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.314C>G r.(?) p.(Ser105*) Paternal (confirmed) - likely pathogenic (recessive) g.41101351C>G g.40809153C>G - - ZFYVE19_000004 alternative translation initiation gives p.(Ser30*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam6 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.314C>G r.(?) p.(Ser105*) Both (homozygous) - likely pathogenic (recessive) g.41101351C>G g.40809153C>G - - ZFYVE19_000004 alternative translation initiation gives p.(Ser30*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam13 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.314C>G r.(?) p.(Ser105*) Maternal (confirmed) - likely pathogenic (recessive) g.41101351C>G g.40809153C>G - - ZFYVE19_000004 alternative translation initiation gives p.(Arg97*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam23 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.314C>G r.(?) p.(Ser105*) Maternal (confirmed) - likely pathogenic (recessive) g.41101351C>G g.40809153C>G - - ZFYVE19_000004 alternative translation initiation gives p.0? (Met1?) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam27 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Gln127*) Paternal (confirmed) - likely pathogenic (recessive) g.41101416C>T g.40809218C>T - - ZFYVE19_000005 alternative translation initiation gives p.(Gln52*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam27 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.514C>T r.(?) p.(Arg172*) Both (homozygous) - likely pathogenic (recessive) g.41102111C>T g.40809913C>T - - ZFYVE19_000006 alternative translation initiation gives p.(Ser30*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam26 PubMed: Luan 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.514C>T r.(?) p.(Arg172*) Maternal (confirmed) - likely pathogenic (recessive) g.41102111C>T g.40809913C>T - - ZFYVE19_000006 alternative translation initiation gives p.(Arg108*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam6 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - c.514C>T r.(?) p.(Arg172*) Unknown - VUS g.41102111C>T - ZFYVE19(NM_001077268.1):c.514C>T (p.R172*) - ZFYVE19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539G>A r.(?) p.(Arg180His) Unknown - VUS g.41102136G>A - ZFYVE19(NM_001077268.2):c.539G>A (p.(Arg180His)) - DNAJC17_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.547C>T r.(?) p.(Arg183*) Paternal (confirmed) - likely pathogenic (recessive) g.41102144C>T g.40809946C>T - - ZFYVE19_000007 alternative translation initiation gives p.(Gln52*) PubMed: Luan 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam23 PubMed: Luan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.569C>T r.(?) p.(Pro190Leu) Unknown - likely benign g.41102166C>T - ZFYVE19(NM_001077268.2):c.569C>T (p.(Pro190Leu)) - DNAJC17_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604C>T r.(?) p.(Arg202Trp) Unknown - likely benign g.41102301C>T - ZFYVE19(NM_001077268.2):c.604C>T (p.(Arg202Trp)) - DNAJC17_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617T>C r.(?) p.(Leu206Pro) Unknown - VUS g.41102314T>C g.40810116T>C ZFYVE19(NM_001077268.1):c.617T>C (p.(Leu206Pro)) - ZFYVE19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1337+9A>C r.(=) p.(=) Unknown - likely benign g.41106277A>C - ZFYVE19(NM_001077268.2):c.1337+9A>C - DNAJC17_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1739T>C r.(=) p.(=) Unknown - likely benign g.41108163T>C g.40815965T>C PPP1R14D(NM_001130143.1):c.485A>G (p.(Gln162Arg)) - DNAJC17_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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