25622[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 150224	GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1	CMSS1, COL8A1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 2654002	NM_001199198.3(TBC1D23):c.13G>A (p.Glu5Lys)	TBC1D23 (E5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436958	NM_001199198.3(TBC1D23):c.53+100G>A	TBC1D23	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 780384	NM_001199198.3(TBC1D23):c.54-7T>G	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174565	NM_001199198.3(TBC1D23):c.89G>A (p.Gly30Asp)	TBC1D23 (G30D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 801991	NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)	TBC1D23 (C31S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2357482	NM_001199198.3(TBC1D23):c.119T>C (p.Ile40Thr)	TBC1D23 (I40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174558	NM_001199198.3(TBC1D23):c.131C>T (p.Pro44Leu)	TBC1D23 (P44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029244	NM_001199198.3(TBC1D23):c.170C>T (p.Ala57Val)	TBC1D23 (A57V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 2592528	NM_001199198.3(TBC1D23):c.232G>A (p.Glu78Lys)	TBC1D23 (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590459	NM_001199198.3(TBC1D23):c.249C>G (p.His83Gln)	TBC1D23 (H83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2266843	NM_001199198.3(TBC1D23):c.272-5T>C	TBC1D23	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3174563	NM_001199198.3(TBC1D23):c.274C>G (p.Gln92Glu)	TBC1D23 (Q92E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214103	NM_001199198.3(TBC1D23):c.298G>A (p.Ala100Thr)	TBC1D23 (A100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654003	NM_001199198.3(TBC1D23):c.324A>G (p.Glu108=)	TBC1D23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388711	NM_001199198.3(TBC1D23):c.406G>A (p.Val136Met)	TBC1D23 (V136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336161	NM_001199198.3(TBC1D23):c.423A>G (p.Pro141=)	TBC1D23	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2288000	NM_001199198.3(TBC1D23):c.424C>T (p.Arg142Cys)	TBC1D23 (R142C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695576	NM_001199198.3(TBC1D23):c.424C>A (p.Arg142Ser)	TBC1D23 (R142S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709751	NM_001199198.3(TBC1D23):c.426C>G (p.Arg142=)	TBC1D23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2405740	NM_001199198.3(TBC1D23):c.430G>A (p.Asp144Asn)	TBC1D23 (D144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510512	NM_001199198.3(TBC1D23):c.454A>G (p.Ile152Val)	TBC1D23 (I152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503503	NM_001199198.3(TBC1D23):c.458T>C (p.Met153Thr)	TBC1D23 (M153T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 934904	NM_001199198.3(TBC1D23):c.460A>G (p.Asn154Asp)	TBC1D23 (N154D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3174564	NM_001199198.3(TBC1D23):c.536A>T (p.Glu179Val)	TBC1D23 (E179V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031926	NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser)	TBC1D23 (P180S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 3324676	NM_001199198.3(TBC1D23):c.543G>C (p.Glu181Asp)	TBC1D23 (E181D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057423	NM_001199198.3(TBC1D23):c.543G>A (p.Glu181=)	TBC1D23	Single nucleotide variant (synonymous variant)	TBC1D23-related disorder	GLikely benign
Select item 1325171	NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs)	TBC1D23 (F205fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 3032696	NM_001199198.3(TBC1D23):c.612T>C (p.Leu204=)	TBC1D23	Single nucleotide variant (synonymous variant)	TBC1D23-related disorder	GLikely benign
Select item 1323675	NM_001199198.3(TBC1D23):c.630del (p.Thr211fs)	TBC1D23 (T211fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 1299447	NM_001199198.3(TBC1D23):c.676G>C (p.Asp226His)	TBC1D23 (D226H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230855	NM_001199198.3(TBC1D23):c.679C>G (p.Pro227Ala)	TBC1D23 (P227A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605036	NM_001199198.3(TBC1D23):c.721G>C (p.Ala241Pro)	TBC1D23 (A241P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709752	NM_001199198.3(TBC1D23):c.726A>G (p.Lys242=)	TBC1D23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042314	NM_001199198.3(TBC1D23):c.735T>C (p.Ile245=)	TBC1D23	Single nucleotide variant (synonymous variant)	TBC1D23-related disorder	GBenign
Select item 2337173	NM_001199198.3(TBC1D23):c.794C>G (p.Ser265Cys)	TBC1D23 (S265C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279678	NM_001199198.3(TBC1D23):c.860C>T (p.Pro287Leu)	TBC1D23 (P287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1251837	NM_001199198.3(TBC1D23):c.876+27G>T	TBC1D23	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 11 +1 more	GBenign
Select item 1263919	NM_001199198.3(TBC1D23):c.876+47C>T	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290518	NM_001199198.3(TBC1D23):c.876+141del	TBC1D23	Deletion (intron variant)	not provided	GBenign
Select item 1266317	NM_001199198.3(TBC1D23):c.877-218dup	TBC1D23	Duplication (intron variant)	not provided	GBenign
Select item 3043488	NM_001199198.3(TBC1D23):c.899G>C (p.Ser300Thr)	TBC1D23 (S300T)	Single nucleotide variant (missense variant)	TBC1D23-related disorder	GBenign
Select item 987034	NM_001199198.3(TBC1D23):c.951_954del (p.Cys317fs)	TBC1D23 (C317fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 3174566	NM_001199198.3(TBC1D23):c.975C>G (p.Ile325Met)	TBC1D23 (I325M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386615	NM_001199198.3(TBC1D23):c.983C>T (p.Ala328Val)	TBC1D23 (A328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065496	NM_001199198.3(TBC1D23):c.1004G>T (p.Gly335Val)	TBC1D23 (G335V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3174557	NM_001199198.3(TBC1D23):c.1010G>A (p.Arg337Gln)	TBC1D23 (R337Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503049	NM_001199198.3(TBC1D23):c.1018del (p.Val340fs)	TBC1D23 (V340fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 2251512	NM_001199198.3(TBC1D23):c.1021G>T (p.Val341Leu)	TBC1D23 (V341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057302	NM_001199198.3(TBC1D23):c.1023G>A (p.Val341=)	TBC1D23	Single nucleotide variant (synonymous variant)	TBC1D23-related disorder	GLikely benign
Select item 2316933	NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter)	TBC1D23 (C343*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1695858	NM_001199198.3(TBC1D23):c.1031G>A (p.Arg344His)	TBC1D23 (R344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324970	NM_001199198.3(TBC1D23):c.1072T>C (p.Phe358Leu)	TBC1D23 (F358L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1323676	NM_001199198.3(TBC1D23):c.1092+2T>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 2510970	NM_001199198.3(TBC1D23):c.1175T>C (p.Ile392Thr)	TBC1D23 (I392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602409	NM_001199198.3(TBC1D23):c.1275A>C (p.Glu425Asp)	TBC1D23 (E425D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595732	NM_001199198.3(TBC1D23):c.1286T>C (p.Ile429Thr)	TBC1D23 (I429T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2309581	NM_001199198.3(TBC1D23):c.1291A>G (p.Ser431Gly)	TBC1D23 (S431G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634555	NM_001199198.3(TBC1D23):c.1306+3A>G	TBC1D23	Single nucleotide variant (intron variant)	TBC1D23-related disorder	GUncertain significance
Select item 1335999	NM_001199198.3(TBC1D23):c.1306+10T>C	TBC1D23	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1181396	NM_001199198.3(TBC1D23):c.1306+201T>A	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1029243	NM_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn)	TBC1D23 (D443N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 3053816	NM_001199198.3(TBC1D23):c.1342G>A (p.Gly448Arg)	TBC1D23 (G448R)	Single nucleotide variant (missense variant)	TBC1D23-related disorder	GUncertain significance
Select item 2393511	NM_001199198.3(TBC1D23):c.1345C>T (p.Pro449Ser)	TBC1D23 (P449S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1288065	NM_001199198.3(TBC1D23):c.1413+224del	TBC1D23	Deletion (intron variant)	not provided	GBenign
Select item 1247853	NM_001199198.3(TBC1D23):c.1414-74A>G	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2337912	NM_001199198.3(TBC1D23):c.1424C>T (p.Pro475Leu)	TBC1D23 (P475L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538711	NM_001199198.3(TBC1D23):c.1466A>G (p.Lys489Arg)	TBC1D23 (K489R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174560	NM_001199198.3(TBC1D23):c.1468A>G (p.Met490Val)	TBC1D23 (M490V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 397553	NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs)	TBC1D23 (V492fs)	Microsatellite (frameshift variant)	Pontoneocerebellar hypoplasia +1 more	GPathogenic
Select item 2436959	NM_001199198.3(TBC1D23):c.1505G>A (p.Arg502Lys)	TBC1D23 (R502K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 3174561	NM_001199198.3(TBC1D23):c.1519A>G (p.Ser507Gly)	TBC1D23 (S507G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 397554	NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)	TBC1D23 (I509fs)	Indel (frameshift variant)	Pontoneocerebellar hypoplasia +1 more	GPathogenic
Select item 1334928	NM_001199198.3(TBC1D23):c.1554-49dup	TBC1D23	Duplication (intron variant)	Pontocerebellar hypoplasia, type 11	GBenign
Select item 3040079	NM_001199198.3(TBC1D23):c.1554-4A>G	TBC1D23	Single nucleotide variant (intron variant)	TBC1D23-related disorder	GLikely benign
Select item 1181187	NM_001199198.3(TBC1D23):c.1599-94A>T	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174562	NM_001199198.3(TBC1D23):c.1630C>A (p.Pro544Thr)	TBC1D23 (P544T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276012	NM_001199198.3(TBC1D23):c.1642G>A (p.Val548Ile)	TBC1D23 (V548I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612399	NM_001199198.3(TBC1D23):c.1661T>C (p.Ile554Thr)	TBC1D23 (I554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525958	NM_001199198.3(TBC1D23):c.1674A>C (p.Glu558Asp)	TBC1D23 (E558D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 934903	NM_001199198.3(TBC1D23):c.1677A>G (p.Glu559=)	TBC1D23	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 930943	NM_001199198.3(TBC1D23):c.1687+1G>C	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 440764	NM_001199198.3(TBC1D23):c.1687+1G>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 440763	NM_001199198.3(TBC1D23):c.1687+2T>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 397555	NM_001199198.3(TBC1D23):c.1687+2T>G	TBC1D23	Single nucleotide variant (splice donor variant)	Pontoneocerebellar hypoplasia +1 more	GPathogenic
Select item 1269167	NM_001199198.3(TBC1D23):c.1688-118G>C	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2386802	NM_001199198.3(TBC1D23):c.1783C>T (p.Pro595Ser)	TBC1D23 (P580S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806653	NM_001199198.3(TBC1D23):c.1801G>T (p.Glu601Ter)	TBC1D23 (E586* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1222634	NM_001199198.3(TBC1D23):c.1823+180T>C	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182269	NM_001199198.3(TBC1D23):c.1823+235dup	TBC1D23	Duplication (intron variant)	not provided	GBenign
Select item 1031925	NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val)	TBC1D23 (G613V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 2258776	NM_001199198.3(TBC1D23):c.1892A>G (p.Tyr631Cys)	TBC1D23 (Y631C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472206	NM_001199198.3(TBC1D23):c.2008G>T (p.Ala670Ser)	TBC1D23 (A655S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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