7428[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 665653	NC_000003.12:g.(?_10052377)_(10149975_?)del	BRK1, FANCD2 +7 more	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 654670	NC_000003.11:g.(?_10094061)_(10191659_?)dup	BRK1, FANCD2 +7 more	Duplication	Chuvash polycythemia +1 more	GUncertain significance
Select item 584124	NC_000003.11:g.(?_10106403)_(10191659_?)dup	FANCD2, FANCD2OS +7 more	Duplication	Chuvash polycythemia +1 more	GUncertain significance
Select item 526503	NC_000003.12:g.(?_10064723)_(10146642_?)del	BRK1, FANCD2 +7 more	Deletion	Fanconi anemia	GPathogenic
Select item 456559	NC_000003.12:g.(?_10064723)_(10149971_?)del	LOC107303340, LOC129936148 +7 more	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 374036	NC_000003.12:g.10133799_10141895del	LOC107303339, VHL	Deletion	Pancreatic cysts +1 more	GPathogenic
Select item 2574137	NC_000003.12:g.10133996_10152871del	LOC107303339, LOC107303340 +1 more	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997741	NC_000003.12:g.10135142_10142466del	LOC107303339, LOC107303340 +1 more	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997740	NC_000003.12:g.10135142_10143568del	LOC107303340, LOC107303339 +1 more	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997742	NC_000003.12:g.10137026_10145481del	LOC107303340, LOC107303339 +1 more	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997743	NC_000003.12:g.10137102_10143357del	LOC107303339, LOC107303340 +1 more	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997746	NC_000003.12:g.10139220_10148953del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997747	NC_000003.12:g.10139708_10142406del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997748	NC_000003.12:g.10139761_10142459del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997768	NC_000003.12:g.10140148_10140759del	VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997750	NC_000003.12:g.10140648_10148414del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 997754	NC_000003.12:g.10140738_10142535del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 1178859	NC_000003.12:g.10141318G>C	VHL	Single nucleotide variant	not provided	GBenign
Select item 997755	NC_000003.12:g.10141523_10142610del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome	GPathogenic
Select item 1676867	NC_000003.12:g.10141556_10141557insAAA	VHL	Insertion	not provided	GLikely benign
Select item 1292417	NC_000003.12:g.10141570_10141571dup	VHL	Duplication	not provided	GBenign
Select item 1267817	NC_000003.12:g.10141569_10141571dup	VHL	Duplication	not provided	GBenign
Select item 1274684	NC_000003.12:g.10141590C>T	VHL	Single nucleotide variant	not provided	GBenign
Select item 417800	NC_000003.12:g.(?_10141635)_(10153670_?)del	LOC107303340, VHL	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 417616	NC_000003.12:g.(?_10141635)_(10142187_?)del	VHL	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 342396	NM_000551.3(VHL):c.-207C>T	VHL	Single nucleotide variant	Chuvash polycythemia +3 more	GUncertain significance
Select item 342397	NM_000551.3(VHL):c.-195G>A	VHL	Single nucleotide variant	not provided +2 more	GBenign
Select item 900507	NM_000551.3(VHL):c.-188G>A	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 900508	NM_000551.3(VHL):c.-179G>A	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome	GUncertain significance
Select item 342398	NM_000551.3(VHL):c.-166C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome	GUncertain significance
Select item 342399	NM_000551.3(VHL):c.-125C>A	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome	GUncertain significance
Select item 1337521	NM_000551.3(VHL):c.-122T>C	VHL	Single nucleotide variant	not specified	GUncertain significance
Select item 902166	NM_000551.3(VHL):c.-118C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome	GUncertain significance
Select item 1337837	NM_000551.3(VHL):c.-110C>G	VHL	Single nucleotide variant	not specified	GUncertain significance
Select item 560737	NM_000551.3(VHL):c.-97T>G	VHL	Single nucleotide variant	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2679582	NM_000551.4(VHL):c.-89_-51del	VHL	Deletion	Chuvash polycythemia	GLikely pathogenic
Select item 2954173	NC_000003.12:g.10141762_10141816del	VHL	Deletion	Chuvash polycythemia +1 more	GUncertain significance
Select item 433541	NM_000551.3(VHL):c.-77_-32del	VHL	Deletion	Von Hippel-Lindau syndrome	GUncertain significance
Select item 166561	NM_000551.3(VHL):c.-75_-55del	VHL	Deletion	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 256649	NM_000551.3(VHL):c.-77C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +2 more	GBenign/Likely benign
Select item 560736	NM_000551.3(VHL):c.-73C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3073063	NM_000551.4(VHL):c.-70G>A	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GLikely benign
Select item 517152	NM_000551.4(VHL):c.-61_-51dup	VHL	Duplication (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 342400	NM_000551.4(VHL):c.-64C>T	VHL	Single nucleotide variant (5 prime UTR variant)	VHL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2498921	NM_000551.4(VHL):c.-62_-43del	VHL	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 182985	NM_000551.4(VHL):c.-54_-35dup	VHL	Duplication (5 prime UTR variant)	VHL-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3072506	NM_000551.4(VHL):c.-50_-28dup	VHL	Duplication (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 3069676	NM_000551.4(VHL):c.-50_-28del	VHL	Deletion (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 560735	NM_000551.4(VHL):c.-55del	VHL	Deletion (5 prime UTR variant)	Von Hippel-Lindau syndrome +2 more	GUncertain significance
Select item 2931776	NM_000551.4(VHL):c.-51G>A	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2928623	NM_000551.4(VHL):c.-49C>T	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 2928424	NM_000551.4(VHL):c.-48C>T	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 511068	NM_000551.4(VHL):c.-48C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511159	NM_000551.4(VHL):c.-47C>T	VHL	Single nucleotide variant (5 prime UTR variant)	Chuvash polycythemia +2 more	GConflicting classifications of pathogenicity
Select item 382948	NM_000551.4(VHL):c.-47C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2930348	NM_000551.4(VHL):c.-45C>T	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 1290627	NM_000551.4(VHL):c.-45C>A	VHL	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2928001	NM_000551.4(VHL):c.-39_-10del	VHL	Deletion (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome +1 more	GUncertain significance
Select item 2927689	NM_000551.4(VHL):c.-44G>A	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Chuvash polycythemia +1 more	GUncertain significance
Select item 507432	NM_000551.4(VHL):c.-44G>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384826	NM_000551.4(VHL):c.-40C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380659	NM_000551.4(VHL):c.-38C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 513189	NM_000551.4(VHL):c.-36C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511831	NM_000551.4(VHL):c.-36C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137904	NM_000551.4(VHL):c.-35G>A	VHL	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3058970	NM_000551.4(VHL):c.-31T>C	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	VHL-related condition	GLikely benign
Select item 342401	NM_000551.4(VHL):c.-30C>T	VHL	Single nucleotide variant (5 prime UTR variant)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 389597	NM_000551.4(VHL):c.-29C>A	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3051890	NM_000551.4(VHL):c.-28G>C	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	VHL-related condition	GLikely benign
Select item 902167	NM_000551.4(VHL):c.-26C>T	VHL	Single nucleotide variant (5 prime UTR variant)	Von Hippel-Lindau syndrome	GUncertain significance
Select item 378851	NM_000551.4(VHL):c.-26C>G	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 508543	NM_000551.4(VHL):c.-25C>A	VHL	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 560734	NM_000551.4(VHL):c.-23G>C	VHL	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 378852	NM_000551.4(VHL):c.-16C>T	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2446103	NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)	VHL	Duplication (inframe_insertion +2 more)	not provided +1 more	GUncertain significance
Select item 1311090	NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs)	VHL (M1fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 381125	NM_000551.4(VHL):c.-15T>C	VHL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3074056	NM_000551.4(VHL):c.-13G>C	VHL	Single nucleotide variant (5 prime UTR variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance

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