ClinVar for Gene (Select 128637) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361397	NM_144628.4(TBC1D20):c.230A>G (p.Asn77Ser)	TBC1D20 (N77S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3324661	NM_144628.4(TBC1D20):c.155G>A (p.Arg52His)	TBC1D20 (R52H)	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 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 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 3248308	NC_000020.10:g.(?_389402)_(443049_?)del	RBCK1, TBC1D20	Deletion	Polyglucosan body myopathy type 1	GPathogenic
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 3174544	NM_144628.4(TBC1D20):c.66G>C (p.Lys22Asn)	LOC130065265, TBC1D20 (K22N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174542	NM_144628.4(TBC1D20):c.475G>A (p.Glu159Lys)	TBC1D20 (E159K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174541	NM_144628.4(TBC1D20):c.460C>G (p.Leu154Val)	TBC1D20 (L154V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174540	NM_144628.4(TBC1D20):c.38C>T (p.Ser13Phe)	LOC130065265, TBC1D20 (S13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174538	NM_144628.4(TBC1D20):c.154C>T (p.Arg52Cys)	TBC1D20 (R52C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062418	GRCh37/hg19 20p13(chr20:404407-483858)x1	CSNK2A1, RBCK1 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 3055898	NM_144628.4(TBC1D20):c.387C>T (p.Ile129=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	TBC1D20-related disorder	GLikely benign
Select item 3042557	NM_144628.4(TBC1D20):c.338-8G>C	TBC1D20	Single nucleotide variant (intron variant)	TBC1D20-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 3002304	NM_144628.4(TBC1D20):c.257-15C>T	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992885	NM_144628.4(TBC1D20):c.257-16C>G	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955367	NM_144628.4(TBC1D20):c.257-19G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2866237	NM_144628.4(TBC1D20):c.846C>A (p.Ile282=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2809198	NM_144628.4(TBC1D20):c.495G>C (p.Leu165=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799742	NM_144628.4(TBC1D20):c.71-11C>T	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789165	NM_144628.4(TBC1D20):c.524+14G>C	TBC1D20	Single nucleotide variant (intron variant)	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 2696780	NM_144628.4(TBC1D20):c.257-17G>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684900	GRCh37/hg19 20p13(chr20:438458-1083208)x3	ANGPT4, CSNK2A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 2652127	NM_144628.4(TBC1D20):c.345A>T (p.Pro115=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2501329	NM_144628.4(TBC1D20):c.184A>T (p.Thr62Ser)	TBC1D20 (T62S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2484399	NM_144628.4(TBC1D20):c.340A>G (p.Met114Val)	TBC1D20 (M114V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479755	NM_144628.4(TBC1D20):c.89A>G (p.Lys30Arg)	TBC1D20 (K30R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465838	NM_144628.4(TBC1D20):c.307G>A (p.Val103Ile)	TBC1D20 (V103I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426962	NC_000020.10:g.(?_401495)_(443049_?)dup	RBCK1, TBC1D20	Duplication	Polyglucosan body myopathy type 1	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 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 2366105	NM_144628.4(TBC1D20):c.407G>A (p.Arg136His)	TBC1D20 (R136H)	Single nucleotide variant (missense variant +1 more)	Warburg micro syndrome 4 +1 more	GUncertain significance
Select item 2342664	NM_144628.4(TBC1D20):c.125G>A (p.Ser42Asn)	TBC1D20 (S42N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2313015	NM_144628.4(TBC1D20):c.529T>G (p.Phe177Val)	TBC1D20 (F177V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2276702	NM_144628.4(TBC1D20):c.304G>T (p.Asp102Tyr)	TBC1D20 (D102Y)	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 2262121	NM_144628.4(TBC1D20):c.65A>G (p.Lys22Arg)	LOC130065265, TBC1D20 (K22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255351	NM_144628.4(TBC1D20):c.268C>T (p.Arg90Trp)	TBC1D20 (R90W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2230521	NM_144628.4(TBC1D20):c.547G>A (p.Asp183Asn)	TBC1D20 (D183N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2182806	NM_144628.4(TBC1D20):c.765C>T (p.Ala255=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2028456	NM_144628.4(TBC1D20):c.257-6C>T	TBC1D20	Single nucleotide variant (intron variant)	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 1991428	NM_144628.4(TBC1D20):c.957-17G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962936	NM_144628.4(TBC1D20):c.337+16G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947296	NM_144628.4(TBC1D20):c.410A>G (p.Asn137Ser)	TBC1D20 (N137S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941956	NM_144628.4(TBC1D20):c.62A>G (p.Glu21Gly)	LOC130065265, TBC1D20 (E21G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918253	NM_144628.4(TBC1D20):c.957-7C>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 1912933	NM_144628.4(TBC1D20):c.238G>A (p.Asp80Asn)	TBC1D20 (D80N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904220	NM_144628.4(TBC1D20):c.59C>T (p.Ala20Val)	LOC130065265, TBC1D20 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902203	NM_144628.4(TBC1D20):c.70+17G>C	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901213	NM_144628.4(TBC1D20):c.70+9G>A	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809495	GRCh37/hg19 20p13(chr20:404407-611731)x3	CSNK2A1, RBCK1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809161	GRCh37/hg19 20p13(chr20:384444-744450)x3	CSNK2A1, RBCK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1801060	NM_144628.4(TBC1D20):c.406C>T (p.Arg136Cys)	TBC1D20 (R136C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1706406	NM_144628.4(TBC1D20):c.290A>G (p.Gln97Arg)	TBC1D20 (Q97R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
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 1637028	NM_144628.4(TBC1D20):c.768+9A>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606144	NM_144628.4(TBC1D20):c.627-10T>C	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602742	NM_144628.4(TBC1D20):c.6C>G (p.Ala2=)	LOC130065265, TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1587256	NM_144628.4(TBC1D20):c.716A>G (p.Tyr239Cys)	TBC1D20 (Y239C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1567482	NM_144628.4(TBC1D20):c.519C>T (p.His173=)	TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1530315	NM_144628.4(TBC1D20):c.257-17G>A	TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526677	GRCh37/hg19 20p13(chr20:242496-742740)	C20orf96, CSNK2A1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1526675	GRCh37/hg19 20p13(chr20:61568-806878)	C20orf96, CSNK2A1 +16 more	Copy number loss	not specified	GLikely pathogenic
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 1491506	NM_144628.4(TBC1D20):c.411C>G (p.Asn137Lys)	TBC1D20 (N137K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1474791	NC_000020.10:g.(?_389402)_(746418_?)dup	CSNK2A1, RBCK1 +5 more	Duplication	not provided	GUncertain significance
Select item 1412733	NC_000020.10:g.(?_419230)_(428738_?)dup	TBC1D20	Duplication	not provided	GUncertain significance
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 1373812	NC_000020.10:g.(?_389402)_(746418_?)del	TCF15, CSNK2A1 +5 more	Deletion	Brown-Vialetto-van Laere syndrome 1	GPathogenic
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 1298136	NM_144628.4(TBC1D20):c.769-159A>G	TBC1D20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296195	NM_144628.4(TBC1D20):c.257-91C>T	TBC1D20	Single nucleotide variant (intron variant)	not provided	GBenign

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