VHL[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 156

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9977681.	NC_000003.11:g.10181832_10182443del GRCh37: Chr3:10181832-10182443 GRCh38: Chr3:10140148-10140759	VHL		Von Hippel-Lindau syndrome	Pathogenic (Jun 1, 2020)	criteria provided, single submitter
Select item 4176162.	NC_000003.12:g.(?_10141635)_(10142187_?)del GRCh37: Chr3:10183319-10183871 GRCh38: Chr3:10141635-10142187	VHL		Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Oct 5, 2016)	criteria provided, single submitter
Select item 1665613.	NM_000551.3(VHL):c.-75_-55del GRCh37: Chr3:10183457-10183477 GRCh38: Chr3:10141770-10141790	VHL		Von Hippel-Lindau syndrome	Likely pathogenic (Dec 9, 2014)	criteria provided, single submitter
Select item 6568364.	NC_000003.12:g.(?_10141838)_(10142197_?)del GRCh37: Chr3:10183522-10183881 GRCh38: Chr3:10141838-10142197	VHL		Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Jun 24, 2019)	criteria provided, single submitter
Select item 16925155.	NM_000551.4(VHL):c.123_126del (p.Glu41fs) GRCh37: Chr3:10183654-10183657 GRCh38: Chr3:10141970-10141973	VHL	E41fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Oct 29, 2021)	criteria provided, single submitter
Select item 16925176.	NM_000551.4(VHL):c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46fs) GRCh37: Chr3:10183663-10183664 GRCh38: Chr3:10141979-10141980	VHL	E46fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (May 21, 2021)	criteria provided, single submitter
Select item 8439907.	NM_000551.4(VHL):c.160A>T (p.Met54Leu) GRCh37: Chr3:10183691 GRCh38: Chr3:10142007	VHL	M54L	Von Hippel-Lindau syndrome, Chuvash polycythemia	Likely pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 20431628.	NM_000551.4(VHL):c.161T>G (p.Met54Arg) GRCh37: Chr3:10183692 GRCh38: Chr3:10142008	VHL	M54R	Chuvash polycythemia, Von Hippel-Lindau syndrome	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 2800539.	NM_000551.4(VHL):c.164_171dup (p.Arg60fs) GRCh37: Chr3:10183692-10183693 GRCh38: Chr3:10142008-10142009	VHL	R60fs	not provided, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22315910.	NM_000551.4(VHL):c.163dup (p.Glu55fs) GRCh37: Chr3:10183692-10183693 GRCh38: Chr3:10142008-10142009	VHL	E55fs	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 42880011.	NM_000551.4(VHL):c.163del (p.Glu55fs) GRCh37: Chr3:10183693 GRCh38: Chr3:10142009	VHL	E55fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 23, 2016)	criteria provided, single submitter
Select item 42340912.	NM_000551.4(VHL):c.179_192del (p.Arg60fs) GRCh37: Chr3:10183707-10183720 GRCh38: Chr3:10142023-10142036	VHL	R60fs	Chuvash polycythemia, Von Hippel-Lindau syndrome, not provided	Pathogenic/Likely pathogenic (Oct 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 18298613.	NM_000551.4(VHL):c.180del (p.Val62fs) GRCh37: Chr3:10183710 GRCh38: Chr3:10142026	VHL	V62fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 3, 2014)	criteria provided, single submitter
Select item 178038514.	NM_000551.4(VHL):c.180_193del (p.Pro61fs) GRCh37: Chr3:10183711-10183724 GRCh38: Chr3:10142027-10142040	VHL	P61fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 208521115.	NM_000551.4(VHL):c.184del (p.Val62fs) GRCh37: Chr3:10183715 GRCh38: Chr3:10142031	VHL	V62fs	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 212878916.	NM_000551.4(VHL):c.189_193dup (p.Ser65fs) GRCh37: Chr3:10183716-10183717 GRCh38: Chr3:10142032-10142033	VHL	S65fs	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 49605017.	NM_000551.4(VHL):c.189dup (p.Arg64fs) GRCh37: Chr3:10183719-10183720 GRCh38: Chr3:10142035-10142036	VHL	R64fs	Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Sep 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22320518.	NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer) GRCh37: Chr3:10183720-10183723 GRCh38: Chr3:10142036-10142039	VHL		Von Hippel-Lindau syndrome	Pathogenic (Feb 26, 2016)	no assertion criteria provided
Select item 178264119.	NM_000551.4(VHL):c.191dup (p.Ser65fs) GRCh37: Chr3:10183721-10183722 GRCh38: Chr3:10142037-10142038	VHL	S65fs	Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102300520.	NM_000551.4(VHL):c.190C>A (p.Arg64Ser) GRCh37: Chr3:10183721 GRCh38: Chr3:10142037	VHL	R64S	Chuvash polycythemia, Von Hippel-Lindau syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 222621.	NM_000551.4(VHL):c.191G>C (p.Arg64Pro) GRCh37: Chr3:10183722 GRCh38: Chr3:10142038	VHL	R64P	Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, not provided, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18297222.	NM_000551.4(VHL):c.192del (p.Ser65fs) GRCh37: Chr3:10183723 GRCh38: Chr3:10142039	VHL	S65fs	Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Feb 3, 2016)	criteria provided, multiple submitters, no conflicts
Select item 142685823.	NM_000551.4(VHL):c.193T>A (p.Ser65Thr) GRCh37: Chr3:10183724 GRCh38: Chr3:10142040	VHL	S65T	Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 54782924.	NM_000551.4(VHL):c.193T>C (p.Ser65Pro) GRCh37: Chr3:10183724 GRCh38: Chr3:10142040	VHL	S65P	Von Hippel-Lindau syndrome	Pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 22316025.	NM_000551.4(VHL):c.193T>G (p.Ser65Ala) GRCh37: Chr3:10183724 GRCh38: Chr3:10142040	VHL	S65A	Von Hippel-Lindau syndrome	Likely pathogenic (Feb 26, 2016)	no assertion criteria provided
Select item 22316126.	NM_000551.4(VHL):c.194C>A (p.Ser65Ter) GRCh37: Chr3:10183725 GRCh38: Chr3:10142041	VHL	S65*	Von Hippel-Lindau syndrome, Chuvash polycythemia, Chuvash polycythemia	Pathogenic (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18297527.	NM_000551.4(VHL):c.194C>T (p.Ser65Leu) GRCh37: Chr3:10183725 GRCh38: Chr3:10142041	VHL	S65L	Von Hippel-Lindau syndrome, Chuvash polycythemia, Pancreatic cysts, Retinal capillary hemangioma, Spinal hemangioblastoma, Cerebellar hemangioblastoma, Von Hippel-Lindau syndrome	Pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4359728.	NM_000551.4(VHL):c.194C>G (p.Ser65Trp) GRCh37: Chr3:10183725 GRCh38: Chr3:10142041	VHL	S65W	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178537029.	NM_000551.4(VHL):c.207_208dup (p.Glu70fs) GRCh37: Chr3:10183733-10183734 GRCh38: Chr3:10142049-10142050	VHL	E70fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 18, 2017)	criteria provided, single submitter
Select item 178503530.	NM_000551.4(VHL):c.204dup (p.Arg69fs) GRCh37: Chr3:10183734-10183735 GRCh38: Chr3:10142050-10142051	VHL	R69fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 22, 2018)	criteria provided, single submitter
Select item 22316231.	NM_000551.4(VHL):c.203C>A (p.Ser68Ter) GRCh37: Chr3:10183734 GRCh38: Chr3:10142050	VHL	S68*	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Feb 15, 2021)	criteria provided, single submitter
Select item 47882032.	NM_000551.4(VHL):c.206dup (p.Glu70fs) GRCh37: Chr3:10183736-10183737 GRCh38: Chr3:10142052-10142053	VHL	E70fs	Von Hippel-Lindau syndrome	Pathogenic	no assertion criteria provided
Select item 84794833.	NM_000551.4(VHL):c.208G>C (p.Glu70Gln) GRCh37: Chr3:10183739 GRCh38: Chr3:10142055	VHL	E70Q	Von Hippel-Lindau syndrome, Chuvash polycythemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 42880634.	NM_000551.4(VHL):c.208G>T (p.Glu70Ter) GRCh37: Chr3:10183739 GRCh38: Chr3:10142055	VHL	E70*	Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, not provided	Pathogenic (Aug 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 4359835.	NM_000551.4(VHL):c.208G>A (p.Glu70Lys) GRCh37: Chr3:10183739 GRCh38: Chr3:10142055	VHL	E70K	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 178623636.	NM_000551.4(VHL):c.212_213dup (p.Ser72fs) GRCh37: Chr3:10183741-10183742 GRCh38: Chr3:10142057-10142058	VHL	S72fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 20, 2014)	criteria provided, single submitter
Select item 22316337.	NM_000551.4(VHL):c.214T>C (p.Ser72Pro) GRCh37: Chr3:10183745 GRCh38: Chr3:10142061	VHL	S72P	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22316438.	NM_000551.4(VHL):c.217C>T (p.Gln73Ter) GRCh37: Chr3:10183748 GRCh38: Chr3:10142064	VHL	Q73*	Von Hippel-Lindau syndrome, Chuvash polycythemia, not provided	Pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18298839.	NM_000551.4(VHL):c.219_220del (p.Gln73fs) GRCh37: Chr3:10183750-10183751 GRCh38: Chr3:10142066-10142067	VHL	Q73fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 12, 2014)	criteria provided, single submitter
Select item 172389140.	NM_000551.4(VHL):c.222_225dup (p.Phe76fs) GRCh37: Chr3:10183752-10183753 GRCh38: Chr3:10142068-10142069	VHL	F76fs	Von Hippel-Lindau syndrome	Likely pathogenic (Apr 6, 2021)	no assertion criteria provided
Select item 22316541.	NM_000551.4(VHL):c.221del (p.Val74fs) GRCh37: Chr3:10183752 GRCh38: Chr3:10142068	VHL	V74fs	Von Hippel-Lindau syndrome	Pathogenic (Feb 26, 2016)	no assertion criteria provided
Select item 221442.	NM_000551.4(VHL):c.223_225del (p.Ile75del) GRCh37: Chr3:10183752-10183754 GRCh38: Chr3:10142068-10142070	VHL	I75del	Von Hippel-Lindau syndrome	Pathogenic (Jun 1, 1995)	no assertion criteria provided
Select item 63535043.	NM_000551.4(VHL):c.222C>A (p.Val74=) GRCh37: Chr3:10183753 GRCh38: Chr3:10142069	VHL		Chuvash polycythemia	Pathogenic (Feb 9, 2021)	no assertion criteria provided
Select item 22316644.	NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) GRCh37: Chr3:10183755-10183757 GRCh38: Chr3:10142071-10142073	VHL	F76del	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, not provided, Von Hippel-Lindau syndrome	Pathogenic (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82099445.	NM_000551.4(VHL):c.226T>A (p.Phe76Ile) GRCh37: Chr3:10183757 GRCh38: Chr3:10142073	VHL	F76I	Hereditary cancer-predisposing syndrome	Likely pathogenic (Oct 25, 2019)	criteria provided, single submitter
Select item 41196146.	NM_000551.4(VHL):c.226_227del (p.Phe76fs) GRCh37: Chr3:10183757-10183758 GRCh38: Chr3:10142073-10142074	VHL	F76fs	Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Dec 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 202820647.	NM_000551.4(VHL):c.231C>A (p.Cys77Ter) GRCh37: Chr3:10183762 GRCh38: Chr3:10142078	VHL	C77*	Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 62522748.	NM_000551.4(VHL):c.233del (p.Asn78fs) GRCh37: Chr3:10183763 GRCh38: Chr3:10142079	VHL	N78fs	Von Hippel-Lindau syndrome	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 62522649.	NM_000551.4(VHL):c.232A>G (p.Asn78Asp) GRCh37: Chr3:10183763 GRCh38: Chr3:10142079	VHL	N78D	not provided, Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62522550.	NM_000551.4(VHL):c.232A>C (p.Asn78His) GRCh37: Chr3:10183763 GRCh38: Chr3:10142079	VHL	N78H	Von Hippel-Lindau syndrome	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 22316751.	NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) GRCh37: Chr3:10183763 GRCh38: Chr3:10142079	VHL	N78Y	Hereditary cancer-predisposing syndrome	Likely pathogenic (Dec 19, 2016)	criteria provided, single submitter
Select item 22316952.	NM_000551.4(VHL):c.233A>T (p.Asn78Ile) GRCh37: Chr3:10183764 GRCh38: Chr3:10142080	VHL	N78I	Chuvash polycythemia, Von Hippel-Lindau syndrome	Likely pathogenic (Nov 27, 2018)	criteria provided, single submitter
Select item 22316853.	NM_000551.4(VHL):c.233A>C (p.Asn78Thr) GRCh37: Chr3:10183764 GRCh38: Chr3:10142080	VHL	N78T	Von Hippel-Lindau syndrome, Chuvash polycythemia, not provided	Pathogenic (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9332654.	NM_000551.4(VHL):c.233A>G (p.Asn78Ser) GRCh37: Chr3:10183764 GRCh38: Chr3:10142080	VHL	N78S	Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, not provided, Von Hippel-Lindau syndrome	Pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62522855.	NM_000551.4(VHL):c.239_261del (p.Ser80fs) GRCh37: Chr3:10183769-10183791 GRCh38: Chr3:10142085-10142107	VHL	S80fs	Von Hippel-Lindau syndrome	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 49605256.	NM_000551.4(VHL):c.238A>C (p.Ser80Arg) GRCh37: Chr3:10183769 GRCh38: Chr3:10142085	VHL	S80R	Von Hippel-Lindau syndrome	Pathogenic (Feb 5, 2016)	criteria provided, single submitter
Select item 18622057.	NM_000551.4(VHL):c.238A>G (p.Ser80Gly) GRCh37: Chr3:10183769 GRCh38: Chr3:10142085	VHL	S80G	Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107017958.	NM_000551.4(VHL):c.239G>A (p.Ser80Asn) GRCh37: Chr3:10183770 GRCh38: Chr3:10142086	VHL	S80N	Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 62522959.	NM_000551.4(VHL):c.239G>T (p.Ser80Ile) GRCh37: Chr3:10183770 GRCh38: Chr3:10142086	VHL	S80I	Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome	Pathogenic (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107206960.	NM_000551.4(VHL):c.241_244dup (p.Arg82fs) GRCh37: Chr3:10183771-10183772 GRCh38: Chr3:10142087-10142088	VHL	R82fs	Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Aug 11, 2020)	criteria provided, single submitter
Select item 107119661.	NM_000551.4(VHL):c.244_259dup (p.Val87fs) GRCh37: Chr3:10183771-10183772 GRCh38: Chr3:10142087-10142088	VHL	V87fs	Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Mar 28, 2018)	criteria provided, single submitter
Select item 3689962.	NM_000551.4(VHL):c.242C>T (p.Pro81Leu) GRCh37: Chr3:10183773 GRCh38: Chr3:10142089	VHL	P81L	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, not provided, Von Hippel-Lindau syndrome, See cases	Pathogenic/Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52667563.	NM_000551.4(VHL):c.245G>T (p.Arg82Leu) GRCh37: Chr3:10183776 GRCh38: Chr3:10142092	VHL	R82L	Hereditary cancer-predisposing syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19311864.	NM_000551.4(VHL):c.245G>C (p.Arg82Pro) GRCh37: Chr3:10183776 GRCh38: Chr3:10142092	VHL	R82P	Von Hippel-Lindau syndrome, not provided	Pathogenic (Feb 14, 2019)	criteria provided, multiple submitters, no conflicts
Select item 179237165.	NM_000551.4(VHL):c.250del (p.Val84fs) GRCh37: Chr3:10183781 GRCh38: Chr3:10142097	VHL	V84fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 16, 2014)	criteria provided, single submitter
Select item 22986066.	NM_000551.4(VHL):c.250G>C (p.Val84Leu) GRCh37: Chr3:10183781 GRCh38: Chr3:10142097	VHL	V84L	Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 223667.	NM_000551.4(VHL):c.250G>T (p.Val84Leu) GRCh37: Chr3:10183781 GRCh38: Chr3:10142097	VHL	V84L	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179252268.	NM_000551.4(VHL):c.251T>A (p.Val84Glu) GRCh37: Chr3:10183782 GRCh38: Chr3:10142098	VHL	V84E	Hereditary cancer-predisposing syndrome	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 62523069.	NM_000551.4(VHL):c.258dup (p.Val87fs) GRCh37: Chr3:10183786-10183787 GRCh38: Chr3:10142102-10142103	VHL	V87fs	Von Hippel-Lindau syndrome	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 22048770.	NM_000551.4(VHL):c.258del (p.Val87fs) GRCh37: Chr3:10183787 GRCh38: Chr3:10142103	VHL	V87fs	Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17869271.	NM_000551.4(VHL):c.256C>T (p.Pro86Ser) GRCh37: Chr3:10183787 GRCh38: Chr3:10142103	VHL	P86S	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, not provided, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9332772.	NM_000551.4(VHL):c.256C>G (p.Pro86Ala) GRCh37: Chr3:10183787 GRCh38: Chr3:10142103	VHL	P86A	Chuvash polycythemia, Von Hippel-Lindau syndrome, not provided, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Nov 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22317073.	NM_000551.4(VHL):c.257C>G (p.Pro86Arg) GRCh37: Chr3:10183788 GRCh38: Chr3:10142104	VHL	P86R	Von Hippel-Lindau syndrome, Chuvash polycythemia, Nonpapillary renal cell carcinoma, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18297774.	NM_000551.4(VHL):c.257C>T (p.Pro86Leu) GRCh37: Chr3:10183788 GRCh38: Chr3:10142104	VHL	P86L	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179378975.	NM_000551.4(VHL):c.261_262dup (p.Trp88fs) GRCh37: Chr3:10183790-10183791 GRCh38: Chr3:10142106-10142107	VHL	W88fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 49605376.	NM_000551.4(VHL):c.262T>C (p.Trp88Arg) GRCh37: Chr3:10183793 GRCh38: Chr3:10142109	VHL	W88R	Chuvash polycythemia, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome	Pathogenic (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45657777.	NM_000551.4(VHL):c.262T>A (p.Trp88Arg) GRCh37: Chr3:10183793 GRCh38: Chr3:10142109	VHL	W88R	Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia, not provided	Pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42880578.	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg) GRCh37: Chr3:10183793-10183794 GRCh38: Chr3:10142109-10142110	VHL		Hereditary cancer-predisposing syndrome	Likely pathogenic (Jun 1, 2018)	criteria provided, single submitter
Select item 94940979.	NM_000551.4(VHL):c.264_267dup (p.Asn90fs) GRCh37: Chr3:10183794-10183795 GRCh38: Chr3:10142110-10142111	VHL	N90fs	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 18297880.	NM_000551.4(VHL):c.263G>A (p.Trp88Ter) GRCh37: Chr3:10183794 GRCh38: Chr3:10142110	VHL	W88*	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 222081.	NM_000551.4(VHL):c.263G>C (p.Trp88Ser) GRCh37: Chr3:10183794 GRCh38: Chr3:10142110	VHL	W88S	Von Hippel-Lindau syndrome	Pathogenic (Dec 1, 1995)	no assertion criteria provided
Select item 93668482.	NM_000551.4(VHL):c.264G>A (p.Trp88Ter) GRCh37: Chr3:10183795 GRCh38: Chr3:10142111	VHL	W88*	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 58084783.	NM_000551.4(VHL):c.264G>C (p.Trp88Cys) GRCh37: Chr3:10183795 GRCh38: Chr3:10142111	VHL	W88C	Von Hippel-Lindau syndrome, Chuvash polycythemia	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 22317184.	NM_000551.4(VHL):c.264G>T (p.Trp88Cys) GRCh37: Chr3:10183795 GRCh38: Chr3:10142111	VHL	W88C	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65169485.	NM_000551.4(VHL):c.265C>T (p.Leu89Phe) GRCh37: Chr3:10183796 GRCh38: Chr3:10142112	VHL	L89F	Chuvash polycythemia, Von Hippel-Lindau syndrome	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 37604786.	NM_000551.4(VHL):c.266T>A (p.Leu89His) GRCh37: Chr3:10183797 GRCh38: Chr3:10142113	VHL	L89H	Papillary renal cell carcinoma type 1	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 18297987.	NM_000551.4(VHL):c.266T>C (p.Leu89Pro) GRCh37: Chr3:10183797 GRCh38: Chr3:10142113	VHL	L89P	Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic/Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22317388.	NM_000551.4(VHL):c.269del (p.Asn90fs) GRCh37: Chr3:10183799 GRCh38: Chr3:10142115	VHL	N90fs	Von Hippel-Lindau syndrome	Pathogenic (Feb 26, 2016)	no assertion criteria provided
Select item 22317289.	NM_000551.4(VHL):c.269A>T (p.Asn90Ile) GRCh37: Chr3:10183800 GRCh38: Chr3:10142116	VHL	N90I	Hereditary cancer-predisposing syndrome	Likely pathogenic (Oct 9, 2020)	criteria provided, single submitter
Select item 56074090.	NM_000551.4(VHL):c.273del (p.Phe91fs) GRCh37: Chr3:10183804 GRCh38: Chr3:10142120	VHL	F91fs	not provided	Likely pathogenic (Sep 22, 2015)	criteria provided, single submitter
Select item 42881191.	NM_000551.4(VHL):c.278del (p.Gly93fs) GRCh37: Chr3:10183808 GRCh38: Chr3:10142124	VHL	G93fs	Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22317592.	NM_000551.4(VHL):c.277G>T (p.Gly93Cys) GRCh37: Chr3:10183808 GRCh38: Chr3:10142124	VHL	G93C	Von Hippel-Lindau syndrome	Pathogenic (Feb 26, 2016)	no assertion criteria provided
Select item 22317493.	NM_000551.4(VHL):c.277G>C (p.Gly93Arg) GRCh37: Chr3:10183808 GRCh38: Chr3:10142124	VHL	G93R	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome	Likely pathogenic (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 223794.	NM_000551.4(VHL):c.277G>A (p.Gly93Ser) GRCh37: Chr3:10183808 GRCh38: Chr3:10142124	VHL	G93S	Von Hippel-Lindau syndrome, Chuvash polycythemia, Hereditary cancer-predisposing syndrome	Pathogenic (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58307595.	NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) GRCh37: Chr3:10183809-10183810 GRCh38: Chr3:10142125-10142126	VHL	G93V	Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome	Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49605496.	NM_000551.4(VHL):c.278G>A (p.Gly93Asp) GRCh37: Chr3:10183809 GRCh38: Chr3:10142125	VHL	G93D	Von Hippel-Lindau syndrome, Chuvash polycythemia, Von Hippel-Lindau syndrome	Pathogenic (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58447797.	NM_000551.4(VHL):c.280G>T (p.Glu94Ter) GRCh37: Chr3:10183811 GRCh38: Chr3:10142127	VHL	E94*	Chuvash polycythemia, Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132628498.	NM_000551.4(VHL):c.284C>G (p.Pro95Arg) GRCh37: Chr3:10183815 GRCh38: Chr3:10142131	VHL	P95R	Von Hippel-Lindau syndrome	Likely pathogenic (Oct 6, 2021)	no assertion criteria provided
Select item 42880499.	NM_000551.4(VHL):c.286C>T (p.Gln96Ter) GRCh37: Chr3:10183817 GRCh38: Chr3:10142133	VHL	Q96*	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 821976100.	NM_000551.4(VHL):c.291_296del (p.Tyr98_Pro99del) GRCh37: Chr3:10183820-10183825 GRCh38: Chr3:10142136-10142141	VHL		Hereditary cancer-predisposing syndrome	Likely pathogenic (Dec 21, 2017)	criteria provided, single submitter

<< First< Prev

Page of 2