16133[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 150049	GRCh38/hg38 20p13(chr20:80106-702368)x3	C20orf96, CSNK2A1 +51 more	Copy number gain	See cases	GUncertain significance
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 151035	GRCh38/hg38 20p13(chr20:102451-458699)x3	C20orf96, DEFB126 +34 more	Copy number gain	See cases	GLikely benign
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 150978	GRCh38/hg38 20p13(chr20:295139-500987)x1	CSNK2A1, LOC116286198 +29 more	Copy number loss	See cases	GUncertain significance
Select item 151036	GRCh38/hg38 20p13(chr20:364204-879317)x3	ANGPT4, CSNK2A1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 100778	NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del	TBC1D20	Deletion	Warburg micro syndrome 4	GPathogenic
Select item 1214737	NM_144628.4(TBC1D20):c.*256C>G	TBC1D20	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1186630	NM_144628.4(TBC1D20):c.*247C>G	TBC1D20	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1229481	NM_144628.4(TBC1D20):c.*163G>A	TBC1D20	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1211898	NM_144628.4(TBC1D20):c.*3G>A	TBC1D20	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3324659	NM_144628.4(TBC1D20):c.1184C>G (p.Pro395Arg)	TBC1D20 (P395R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284128	NM_144628.4(TBC1D20):c.1163A>C (p.Lys388Thr)	TBC1D20 (K388T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1598806	NM_144628.4(TBC1D20):c.1158G>A (p.Val386=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1190055	NM_144628.4(TBC1D20):c.1150C>T (p.Leu384=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 212369	NM_144628.4(TBC1D20):c.1143G>A (p.Ala381=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1375084	NM_144628.4(TBC1D20):c.1102G>A (p.Val368Met)	TBC1D20 (V368M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 717466	NM_144628.4(TBC1D20):c.1089G>A (p.Arg363=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521918	NM_144628.4(TBC1D20):c.1061G>A (p.Arg354Gln)	TBC1D20 (R354Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 212368	NM_144628.4(TBC1D20):c.1060C>G (p.Arg354Gly)	TBC1D20 (R354G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 432573	NM_144628.4(TBC1D20):c.1059T>G (p.Asp353Glu)	TBC1D20 (D353E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2594455	NM_144628.4(TBC1D20):c.1054G>C (p.Glu352Gln)	TBC1D20 (E352Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2182233	NM_144628.4(TBC1D20):c.1053T>G (p.Pro351=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1723551	NM_144628.4(TBC1D20):c.1040G>A (p.Gly347Glu)	TBC1D20 (G347E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2406515	NM_144628.4(TBC1D20):c.1037G>A (p.Arg346Gln)	TBC1D20 (R346Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324660	NM_144628.4(TBC1D20):c.1030C>T (p.Arg344Trp)	TBC1D20 (R344W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1214523	NM_144628.4(TBC1D20):c.1025G>A (p.Arg342Gln)	TBC1D20 (R342Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2402076	NM_144628.4(TBC1D20):c.1016T>C (p.Met339Thr)	TBC1D20 (M339T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1198205	NM_144628.4(TBC1D20):c.1008G>A (p.Arg336=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 436943	NM_144628.4(TBC1D20):c.1005G>A (p.Gln335=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 723142	NM_144628.4(TBC1D20):c.993A>G (p.Ala331=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3174545	NM_144628.4(TBC1D20):c.975C>G (p.Phe325Leu)	TBC1D20 (F325L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268490	NM_144628.4(TBC1D20):c.970A>G (p.Thr324Ala)	TBC1D20 (T324A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723143	NM_144628.4(TBC1D20):c.966C>G (p.Ala322=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205882	NM_144628.4(TBC1D20):c.959C>T (p.Thr320Met)	TBC1D20 (T320M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1918253	NM_144628.4(TBC1D20):c.957-7C>G	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991428	NM_144628.4(TBC1D20):c.957-17G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512190	NM_144628.4(TBC1D20):c.957-18C>T	TBC1D20	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1205485	NM_144628.4(TBC1D20):c.956+132C>T	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256696	NM_144628.4(TBC1D20):c.956+22G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388835	NM_144628.4(TBC1D20):c.956+17C>G	TBC1D20	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2858603	NM_144628.4(TBC1D20):c.948A>G (p.Gln316=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168440	NM_144628.4(TBC1D20):c.934G>A (p.Ala312Thr)	TBC1D20 (A312T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 731955	NM_144628.4(TBC1D20):c.933C>T (p.Ala311=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 976405	NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp)	TBC1D20 (A311D)	Single nucleotide variant (missense variant +1 more)	Warburg micro syndrome 4	GUncertain significance
Select item 2181716	NM_144628.4(TBC1D20):c.926G>A (p.Arg309Gln)	TBC1D20 (R309Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3324658	NM_144628.4(TBC1D20):c.903G>T (p.Gln301His)	TBC1D20 (Q301H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1029160	NM_144628.4(TBC1D20):c.874A>G (p.Ile292Val)	TBC1D20 (I292V)	Single nucleotide variant (missense variant +1 more)	Warburg micro syndrome 4	GUncertain significance
Select item 2866237	NM_144628.4(TBC1D20):c.846C>A (p.Ile282=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1997243	NM_144628.4(TBC1D20):c.801C>G (p.Asp267Glu)	TBC1D20 (D267E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298136	NM_144628.4(TBC1D20):c.769-159A>G	TBC1D20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670226	NM_144628.4(TBC1D20):c.769-166C>T	TBC1D20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1637028	NM_144628.4(TBC1D20):c.768+9A>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 212370	NM_144628.4(TBC1D20):c.766G>A (p.Val256Met)	TBC1D20 (V256M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2182806	NM_144628.4(TBC1D20):c.765C>T (p.Ala255=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722568	NM_144628.4(TBC1D20):c.756C>T (p.Tyr252=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713226	NM_144628.4(TBC1D20):c.750G>A (p.Pro250=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728413	NM_144628.4(TBC1D20):c.738C>T (p.His246=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2318678	NM_144628.4(TBC1D20):c.730G>T (p.Ala244Ser)	TBC1D20 (A244S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1587256	NM_144628.4(TBC1D20):c.716A>G (p.Tyr239Cys)	TBC1D20 (Y239C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1348888	NM_144628.4(TBC1D20):c.710G>A (p.Arg237Gln)	TBC1D20 (R237Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908344	NM_144628.4(TBC1D20):c.705C>T (p.Val235=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 100777	NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)	TBC1D20 (W224*)	Single nucleotide variant (nonsense +1 more)	Warburg micro syndrome 4	GPathogenic
Select item 2241578	NM_144628.4(TBC1D20):c.627-1G>C	TBC1D20	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1606144	NM_144628.4(TBC1D20):c.627-10T>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192797	NM_144628.4(TBC1D20):c.627-26G>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200271	NM_144628.4(TBC1D20):c.627-32G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242820	NM_144628.4(TBC1D20):c.627-322_627-319del	TBC1D20	Deletion (intron variant)	not provided	GBenign
Select item 1200452	NM_144628.4(TBC1D20):c.626+201A>G	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916145	NM_144628.4(TBC1D20):c.626+6T>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2299805	NM_144628.4(TBC1D20):c.626+5A>G	TBC1D20	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2294491	NM_144628.4(TBC1D20):c.625A>C (p.Ser209Arg)	TBC1D20 (S209R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1646227	NM_144628.4(TBC1D20):c.609C>G (p.Leu203=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579611	NM_144628.4(TBC1D20):c.595G>C (p.Val199Leu)	TBC1D20 (V199L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 506842	NM_144628.4(TBC1D20):c.549C>T (p.Asp183=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2230521	NM_144628.4(TBC1D20):c.547G>A (p.Asp183Asn)	TBC1D20 (D183N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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