Full data view for gene VHL

This database is one of the "Paraganglioma and pheochromocytoma" gene variant databases.
Information The variants shown are described using the NM_000551.3 transcript reference sequence.

208 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     
-/. 1 c.-258C>T - - Unknown - benign g.10183274C>T g.10141590C>T - - VHL_000586 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, renal - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 1 c.-195G>A r.(?) p.(=) Unknown - benign g.10183337G>A g.10141653G>A - - VHL_000587 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, renal - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. - c.-77C>T r.(?) p.(=) Unknown - benign g.10183455C>T g.10141771C>T - - VHL_000543 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5A>C r.(?) p.(=) Unknown - likely benign g.10183527A>C g.10141843A>C VHL(NM_000551.3):c.-5A>C - VHL_000516 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.10183534G>A g.10141850G>A VHL(NM_000551.3):c.3G>A (p.M1?), VHL(NM_000551.4):c.3G>A (p.(Met1?)) - VHL_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.10183534G>A - VHL(NM_000551.3):c.3G>A (p.M1?), VHL(NM_000551.4):c.3G>A (p.(Met1?)) - VHL_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.4C>T r.(?) p.(Pro2Ser) Unknown - VUS g.10183535C>T g.10141851C>T - - VHL_000588 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - - - - 1 Maximiliano Zeballos
-?/. - c.6C>A r.(?) p.(Pro2=) Unknown - likely benign g.10183537C>A g.10141853C>A - - VHL_000609 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Glu12Lys) Unknown - likely benign g.10183565G>A g.10141881G>A VHL(NM_000551.4):c.34G>A (p.E12K) - VHL_000518 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70G>A r.(?) p.(Gly24Ser) Unknown - likely benign g.10183601G>A - - - VHL_000636 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.74C>T r.(?) p.(Pro25Leu) Parent #1 - benign g.10183605C>T g.10141921C>T - - VHL_000330 - - - rs35460768 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - likely benign g.10183605C>T g.10141921C>T VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L) - VHL_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - likely benign g.10183605C>T g.10141921C>T VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L) - VHL_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - benign g.10183605C>T g.10141921C>T VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L) - VHL_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - benign g.10183605C>T g.10141921C>T VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L) - VHL_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - benign g.10183605C>T g.10141921C>T VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L) - VHL_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - benign g.10183605C>T - VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L) - VHL_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75T>C r.(?) p.(=) Unknown - likely benign g.10183606T>C - - - VHL_000629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.98C>A r.(?) p.(Ser33Ter) Unknown - likely pathogenic g.10183629C>A g.10141945C>A VHL(NM_000551.3):c.98C>A (p.S33*) - VHL_000610 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>A r.(?) p.(Ala35Asp) Unknown - VUS g.10183635C>A g.10141951C>A VHL(NM_000551.3):c.104C>A (p.A35D) - VHL_000611 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119C>T r.(?) p.(Pro40Leu) Unknown - likely benign g.10183650C>T - - - VHL_000641 - - - rs200343185 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>C r.(?) p.(Glu42Asp) Unknown - likely benign g.10183657G>C g.10141973G>C VHL(NM_000551.3):c.126G>C (p.E42D) - VHL_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>G r.(?) p.(Ala50=) Unknown - likely benign g.10183681C>G g.10141997C>G VHL(NM_000551.3):c.150C>G (p.A50=), VHL(NM_000551.4):c.150C>G (p.A50=) - VHL_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>G r.(?) p.(Ala50=) Unknown - likely benign g.10183681C>G g.10141997C>G VHL(NM_000551.3):c.150C>G (p.A50=), VHL(NM_000551.4):c.150C>G (p.A50=) - VHL_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150C>G r.(?) p.(Ala50=) Unknown - benign g.10183681C>G - VHL(NM_000551.3):c.150C>G (p.A50=), VHL(NM_000551.4):c.150C>G (p.A50=) - VHL_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151G>C r.(?) p.(Glu51Gln) Unknown - VUS g.10183682G>C - - - VHL_000628 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A r.(?) p.(Glu52Lys) Unknown - likely benign g.10183685G>A g.10142001G>A - - VHL_000612 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154G>A r.(?) p.(Glu52Lys) Parent #1 - VUS g.10183685G>A g.10142001G>A - - VHL_000612 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs373068386 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
+/. 1 c.162G>C r.(?) p.(Met54Ile) Paternal (inferred) - pathogenic g.10183693G>C g.10142009G>C - - VHL_000002 - - - - Germline yes - - - - DNA SEQ - - ECYT2 - - - - - Netherlands - - - - - 1 Richard van Wijk
+/. 1 c.162G>C r.(?) p.(Met54Ile) Maternal (inferred) - pathogenic g.10183693G>C g.10142009G>C - - VHL_000002 - - - - Germline yes - - - - DNA SEQ - - ECYT2 - - - - - Netherlands - - - - - 1 Richard van Wijk
?/. - c.162G>C r.(?) p.(Met54Ile) Unknown - VUS g.10183693G>C g.10142009G>C VHL(NM_000551.3):c.162G>C (p.M54I) - VHL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>G r.(?) p.(Ala56=) Unknown - likely benign g.10183699C>G g.10142015C>G VHL(NM_000551.4):c.168C>G (p.A56=) - VHL_000572 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Ala56=) Unknown - likely benign g.10183699C>T g.10142015C>T VHL(NM_000551.4):c.168C>T (p.A56=) - VHL_000521 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.169G>C r.(?) p.(Gly57Arg) Parent #1 - VUS g.10183700G>C g.10142016G>C - - VHL_000515 PolyPhen2: (PSIC: 0,9)- probably damaging; SIFT: deleterious - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.183C>G r.(?) p.(Pro61=) Unknown - likely benign g.10183714C>G g.10142030C>G VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=) - VHL_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>G r.(?) p.(Pro61=) Unknown - likely benign g.10183714C>G g.10142030C>G VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=) - VHL_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>G r.(?) p.(Pro61=) Unknown - likely benign g.10183714C>G g.10142030C>G VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=) - VHL_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183C>G r.(?) p.(Pro61=) Unknown - likely benign g.10183714C>G - VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=) - VHL_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.189_192del r.(?) p.(Ser65*) Unknown - likely pathogenic g.10183720_10183723del g.10142036_10142039del 189_192delGCGC - VHL_000619 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 985 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+/. - c.191G>C r.(?) p.(Arg64Pro) Unknown - pathogenic g.10183722G>C g.10142038G>C VHL(NM_000551.3):c.191G>C (p.R64P) - VHL_000522 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.192del r.(?) p.(Ser65Argfs*2) Parent #1 - likely pathogenic g.10183723del g.10142039del - - VHL_000613 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730882031 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.193T>C r.(?) p.(Ser65Pro) Unknown - pathogenic g.10183724T>C g.10142040T>C VHL(NM_000551.3):c.193T>C (p.S65P) - VHL_000523 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.194C>A r.(?) p.(Ser65*) Parent #1 - pathogenic g.10183725C>A g.10142041C>A - - VHL_000589 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - - - - 1 Maximiliano Zeballos
+/. 1 c.194C>A r.(?) p.(Ser65*) Parent #1 - pathogenic g.10183725C>A g.10142041C>A - - VHL_000589 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, renal - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
+/. - c.194C>G r.(?) p.(Ser65Trp) Unknown - pathogenic g.10183725C>G g.10142041C>G VHL(NM_000551.3):c.194C>G (p.S65W) - VHL_000524 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194C>G r.(?) p.(Ser65Trp) Unknown - pathogenic g.10183725C>G g.10142041C>G VHL(NM_000551.3):c.194C>G (p.S65W) - VHL_000524 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194C>T r.(?) p.(Ser65Leu) Unknown - pathogenic g.10183725C>T g.10142041C>T VHL(NM_000551.3):c.194C>T (p.S65L) - VHL_000525 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.202T>C r.(?) p.(Ser68Pro) Unknown - likely pathogenic g.10183733T>C g.10142049T>C VHL(NM_000551.3):c.202T>C (p.S68P) - VHL_000526 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208G>A r.(?) p.(Glu70Lys) Unknown - pathogenic g.10183739G>A g.10142055G>A VHL(NM_000551.3):c.208G>A (p.E70K) - VHL_000527 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.208G>A r.(?) p.(Glu70Lys) Unknown - likely pathogenic (dominant) g.10183739G>A g.10142055G>A - - VHL_000527 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Kim 2021 - - - Korea - - - - - 1 Johan den Dunnen
-?/. - c.213C>T r.(?) p.(Pro71=) Unknown - likely benign g.10183744C>T - - - VHL_000642 - - - rs201663073 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.217C>T r.(?) p.(Gln73*) Parent #1 - pathogenic g.10183748C>T g.10142064C>T - - VHL_000590 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+/. 1 c.217dup r.(?) p.(Gln73Profs*59) Parent #1 - pathogenic g.10183748dup g.10142064dup - - VHL_000591 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+/. 1 c.227_229del r.(?) p.(Phe76del) Parent #1 - pathogenic g.10183758_10183760del g.10142074_10142076del - - VHL_000097 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.227_229del r.(?) p.(Phe76del) Unknown - pathogenic g.10183758_10183760del g.10142074_10142076del VHL(NM_000551.3):c.227_229delTCT (p.F76del) - VHL_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232A>G r.(?) p.(Asn78Asp) Unknown - VUS g.10183763A>G g.10142079A>G VHL(NM_000551.3):c.232A>G (p.N78D) - VHL_000574 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.233A>G r.(?) p.(Asn78Ser) Unknown - pathogenic g.10183764A>G g.10142080A>G VHL(NM_000551.3):c.233A>G (p.N78S) - VHL_000556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.233A>G r.(?) p.(Asn78Ser) Unknown - likely pathogenic g.10183764A>G g.10142080A>G - - VHL_000556 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 984 PubMed: Stone 2017 family, 7 affected F - (United States) - - - - - 7 LOVD
+/. - c.240T>G r.(?) p.(Ser80Arg) Unknown - pathogenic g.10183771T>G g.10142087T>G - - VHL_000575 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>T r.(?) p.(Pro81Ser) Unknown - likely benign g.10183772C>T g.10142088C>T VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S) - VHL_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>T r.(?) p.(Pro81Ser) Unknown - likely benign g.10183772C>T g.10142088C>T VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S) - VHL_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>T r.(?) p.(Pro81Ser) Unknown - likely benign g.10183772C>T - VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S) - VHL_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>T r.(?) p.(Pro81Ser) Unknown - likely benign g.10183772C>T - VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S) - VHL_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.242C>T r.(?) p.(Pro81Leu) Parent #1 - VUS g.10183773C>T g.10142089C>T - - VHL_000514 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - likely pathogenic (dominant) g.10183773C>T g.10142089C>T - - VHL_000514 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Kim 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - likely pathogenic (dominant) g.10183773C>T g.10142089C>T - - VHL_000514 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Kim 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.245G>C r.(?) p.(Arg82Pro) Unknown ACMG likely pathogenic g.10183776G>C g.10142092G>C - - VHL_000608 ACMG: PM2,PM5,PP1,PP3,PP4; Dollfus et al. 2002. Invest Ophthalmol Vis Sci 43: 3067; Chacon-Camacho et al. 2010. Clin Exp Ophthalmol 38: 277 - - rs794726890 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.250G>C r.(?) p.(Val84Leu) Unknown - pathogenic g.10183781G>C g.10142097G>C - - VHL_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.250G>T r.(?) p.(Val84Leu) Parent #1 - pathogenic g.10183781G>T g.10142097G>T - - VHL_000592 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+/. - c.253_255delinsTTT r.(?) p.(Leu85Phe) Unknown - pathogenic (dominant) g.10183784_10183786delinsTTT g.10142100_10142102delinsTTT - - VHL_000621 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Kim 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.256C>A r.(?) p.(Pro86Thr) Unknown - likely pathogenic g.10183787C>A g.10142103C>A VHL(NM_000551.3):c.256C>A (p.P86T) - VHL_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.256C>T r.(?) p.(Pro86Ser) Parent #1 - pathogenic g.10183787C>T g.10142103C>T - - VHL_000593 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+/. - c.258del r.(?) p.(Val87Tyrfs*72) Unknown - pathogenic g.10183789del - - - VHL_000637 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.259_260insA r.(?) p.(Val87AspfsTer45) Unknown - pathogenic g.10183790_10183791insA g.10142106_10142107insA VHL(NM_000551.3):c.259_260insA (p.V87Dfs*45) - VHL_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.263G>A r.(?) p.(Trp88*) Parent #1 - pathogenic g.10183794G>A g.10142110G>A - - VHL_000594 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+/. - c.264G>T r.(?) p.(Trp88Cys) Unknown - pathogenic g.10183795G>T g.10142111G>T VHL(NM_000551.3):c.264G>T (p.W88C) - VHL_000558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.266T>A r.(?) p.(Leu89His) Unknown - likely pathogenic g.10183797T>A - - - VHL_000617 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.266T>C r.(?) p.(Leu89Pro) Unknown - pathogenic g.10183797T>C g.10142113T>C VHL(NM_000551.3):c.266T>C (p.L89P) - VHL_000559 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.269A>T r.(?) p.(Asn90Ile) Unknown - pathogenic g.10183800A>T g.10142116A>T VHL(NM_000551.3):c.269A>T (p.N90I) - VHL_000580 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.277G>A r.(?) p.(Gly93Ser) Parent #1 - pathogenic g.10183808G>A g.10142124G>A - - VHL_000595 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+/. - c.277G>A r.(?) p.(Gly93Ser) Unknown - pathogenic g.10183808G>A - - - VHL_000595 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.292T>C r.(?) p.(Tyr98His) Unknown - likely pathogenic g.10183823T>C g.10142139T>C - - VHL_000620 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 982 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.292T>C r.(?) p.(Tyr98His) Unknown - likely pathogenic g.10183823T>C g.10142139T>C - - VHL_000620 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 983 PubMed: Stone 2017 family, 17 affected M - (United States) - - - - - 17 LOVD
+?/. - c.293A>G r.(?) p.(Tyr98Cys) Unknown - likely pathogenic g.10183824A>G g.10142140A>G VHL(NM_000551.3):c.293A>G (p.Y98C) - VHL_000528 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293A>G r.(?) p.(Tyr98Cys) Unknown - pathogenic g.10183824A>G - - - VHL_000528 - - - rs864321643 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295_301del r.(?) p.(Pro99Cysfs*58) Unknown - pathogenic g.10183826_10183832del - - - chr3_007429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.319C>G r.(?) p.(Arg107Gly) Parent #1 - pathogenic g.10183850C>G g.10142166C>G - - VHL_000596 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+?/. - c.320G>C r.(?) p.(Arg107Pro) Unknown - likely pathogenic g.10183851G>C g.10142167G>C - - VHL_000544 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.332G>A r.(?) p.(Ser111Asn) Unknown - pathogenic g.10183863G>A g.10142179G>A VHL(NM_000551.3):c.332G>A (p.S111N) - VHL_000560 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338G>T r.(?) p.(Arg113Leu) Unknown - likely benign g.10183869G>T - VHL(NM_001354723.1):c.338G>T (p.R113L) - VHL_000618 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.340+1G>A r.spl? p.? Unknown - pathogenic g.10183872G>A g.10142188G>A VHL(NM_000551.3):c.340+1G>A - VHL_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.340+1G>A r.spl? p.? Unknown - pathogenic g.10183872G>A g.10142188G>A VHL(NM_000551.3):c.340+1G>A - VHL_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.340+5G>C r.spl? p.? Parent #1 - benign g.10183876G>C g.10142192G>C - - VHL_000081 - - - rs61758376 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.340+5G>C r.spl? p.? Unknown - likely benign g.10183876G>C g.10142192G>C VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C - VHL_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340+5G>C r.spl? p.? Unknown - benign g.10183876G>C g.10142192G>C VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C - VHL_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340+5G>C r.spl? p.? Unknown - benign g.10183876G>C g.10142192G>C VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C - VHL_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340+5G>C r.spl? p.? Unknown - benign g.10183876G>C - VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C - VHL_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340+171_340+174del r.(?) p.(?) Unknown - likely benign g.10184042_10184045del - - - VHL_000638 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340+174del r.(?) p.(?) Unknown - likely benign g.10184045del - - - VHL_000639 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.340+299del r.(=) p.(=) Unknown - pathogenic g.10184170del g.10142486del VHL(NM_000551.3):c.340+299delC - VHL_000561 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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