TBC1D8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 152113	GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3	CNOT11, CREG2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2271520	NM_001330348.2(TBC1D8):c.3428G>A (p.Ser1143Asn)	RPL31, TBC1D8 (S1128N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246960	NM_001330348.2(TBC1D8):c.3423A>C (p.Glu1141Asp)	RPL31, TBC1D8 (E1126D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1248315	NM_001330348.2(TBC1D8):c.3416_3418dup (p.Thr1139_Phe1140insSer)	RPL31, TBC1D8	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2553727	NM_001330348.2(TBC1D8):c.3373T>C (p.Ser1125Pro)	RPL31, TBC1D8 (S1125P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235420	NM_001330348.2(TBC1D8):c.3242C>G (p.Thr1081Arg)	TBC1D8, RPL31 (T1066R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 774833	NM_001330348.2(TBC1D8):c.3225T>C (p.Phe1075=)	RPL31, TBC1D8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3174701	NM_001330348.2(TBC1D8):c.3190C>T (p.Arg1064Trp)	RPL31, TBC1D8 (R1049W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510178	NM_001330348.2(TBC1D8):c.3155C>T (p.Ser1052Phe)	RPL31, TBC1D8 (S1037F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174700	NM_001330348.2(TBC1D8):c.3104T>C (p.Val1035Ala)	RPL31, TBC1D8 (V1020A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174699	NM_001330348.2(TBC1D8):c.2978A>G (p.Lys993Arg)	RPL31, TBC1D8 (K993R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368900	NM_001330348.2(TBC1D8):c.2915A>G (p.Asn972Ser)	RPL31, TBC1D8 (N972S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382135	NM_001330348.2(TBC1D8):c.2912C>A (p.Pro971His)	RPL31, TBC1D8 (P971H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1256912	NM_001330348.2(TBC1D8):c.2905G>A (p.Gly969Arg)	RPL31, TBC1D8 (G954R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2308976	NM_001330348.2(TBC1D8):c.2879T>C (p.Leu960Ser)	RPL31, TBC1D8 (L945S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1233276	NM_001098577.3(RPL31):c.347-173C>T	RPL31, TBC1D8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183797	NM_001098577.3(RPL31):c.347-91G>A	TBC1D8, RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2784319	NM_001098577.3(RPL31):c.347-1_357del	RPL31, TBC1D8	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1973977	NM_001098577.3(RPL31):c.359del (p.Asn120fs)	RPL31, TBC1D8 (N120fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3344985	NM_001098577.3(RPL31):c.359A>C (p.Asn120Thr)	RPL31, TBC1D8 (N120T)	Single nucleotide variant (missense variant +1 more)	RPL31-related condition	GUncertain significance
Select item 1287016	NM_001098577.3(RPL31):c.*38C>T	RPL31, TBC1D8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3174698	NM_001330348.2(TBC1D8):c.2771A>G (p.Tyr924Cys)	TBC1D8 (Y909C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174697	NM_001330348.2(TBC1D8):c.2726A>C (p.Gln909Pro)	TBC1D8 (Q894P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373934	NM_001330348.2(TBC1D8):c.2696C>T (p.Thr899Met)	TBC1D8 (T899M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363567	NM_001330348.2(TBC1D8):c.2665G>A (p.Gly889Arg)	TBC1D8 (G889R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546455	NM_001330348.2(TBC1D8):c.2612T>C (p.Ile871Thr)	TBC1D8 (I856T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174696	NM_001330348.2(TBC1D8):c.2611A>G (p.Ile871Val)	TBC1D8 (I856V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281070	NM_001330348.2(TBC1D8):c.2594A>G (p.Tyr865Cys)	TBC1D8 (Y865C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174695	NM_001330348.2(TBC1D8):c.2588G>A (p.Arg863Gln)	TBC1D8 (R848Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619067	NM_001330348.2(TBC1D8):c.2537G>A (p.Ser846Asn)	TBC1D8 (S846N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350554	NM_001330348.2(TBC1D8):c.2509G>A (p.Asp837Asn)	TBC1D8 (D837N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338802	NM_001330348.2(TBC1D8):c.2452C>G (p.Leu818Val)	TBC1D8 (L803V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174694	NM_001330348.2(TBC1D8):c.2435C>T (p.Thr812Ile)	TBC1D8 (T797I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379022	NM_001330348.2(TBC1D8):c.2338C>G (p.Arg780Gly)	TBC1D8 (R780G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324738	NM_001330348.2(TBC1D8):c.2327C>T (p.Ser776Leu)	TBC1D8 (S761L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174693	NM_001330348.2(TBC1D8):c.2296G>A (p.Asp766Asn)	TBC1D8 (D766N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546602	NM_001330348.2(TBC1D8):c.2293G>A (p.Asp765Asn)	TBC1D8 (D750N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536784	NM_001330348.2(TBC1D8):c.2224T>A (p.Phe742Ile)	TBC1D8 (F727I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302674	NM_001330348.2(TBC1D8):c.2204C>A (p.Ala735Asp)	TBC1D8 (A735D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324742	NM_001330348.2(TBC1D8):c.2124C>G (p.Ile708Met)	TBC1D8 (I693M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561196	NM_001330348.2(TBC1D8):c.2087C>T (p.Ala696Val)	TBC1D8 (A681V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344842	NM_001330348.2(TBC1D8):c.2032G>A (p.Val678Ile)	TBC1D8 (V663I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2617084	NM_001330348.2(TBC1D8):c.1918T>C (p.Phe640Leu)	TBC1D8 (F640L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512503	NM_001330348.2(TBC1D8):c.1900C>T (p.Arg634Trp)	TBC1D8 (R619W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324745	NM_001330348.2(TBC1D8):c.1805T>C (p.Ile602Thr)	TBC1D8 (I587T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397358	NM_001330348.2(TBC1D8):c.1732G>A (p.Ala578Thr)	TBC1D8 (A563T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256220	NM_001330348.2(TBC1D8):c.1658A>C (p.Glu553Ala)	TBC1D8 (E553A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545311	NM_001330348.2(TBC1D8):c.1631C>G (p.Pro544Arg)	TBC1D8 (P529R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324746	NM_001330348.2(TBC1D8):c.1448G>A (p.Arg483Gln)	TBC1D8 (R483Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311030	NM_001330348.2(TBC1D8):c.1427G>T (p.Gly476Val)	TBC1D8 (G476V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337174	NM_001330348.2(TBC1D8):c.1405G>A (p.Val469Ile)	TBC1D8 (V454I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3324739	NM_001330348.2(TBC1D8):c.1390C>T (p.His464Tyr)	TBC1D8 (H464Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174692	NM_001330348.2(TBC1D8):c.1361A>G (p.Glu454Gly)	TBC1D8 (E439G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224282	NM_001330348.2(TBC1D8):c.1357G>A (p.Glu453Lys)	TBC1D8 (E453K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598057	NM_001330348.2(TBC1D8):c.1340T>C (p.Met447Thr)	TBC1D8 (M432T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521864	NM_001330348.2(TBC1D8):c.1265A>T (p.Asp422Val)	TBC1D8 (D422V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174691	NM_001330348.2(TBC1D8):c.1264G>A (p.Asp422Asn)	TBC1D8 (D407N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174690	NM_001330348.2(TBC1D8):c.1256C>T (p.Thr419Ile)	TBC1D8 (T404I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174689	NM_001330348.2(TBC1D8):c.1250A>G (p.Tyr417Cys)	TBC1D8 (Y417C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524709	NM_001330348.2(TBC1D8):c.1239C>G (p.His413Gln)	TBC1D8 (H398Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616087	NM_001330348.2(TBC1D8):c.1207C>T (p.Leu403Phe)	TBC1D8 (L403F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511554	NM_001330348.2(TBC1D8):c.1178G>A (p.Arg393Gln)	TBC1D8 (R393Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386264	NM_001330348.2(TBC1D8):c.1177C>T (p.Arg393Trp)	TBC1D8 (R378W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347570	NM_001330348.2(TBC1D8):c.1099A>G (p.Met367Val)	TBC1D8 (M367V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343166	NM_001330348.2(TBC1D8):c.1040G>A (p.Arg347Lys)	TBC1D8 (R332K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310081	NM_001330348.2(TBC1D8):c.1001G>A (p.Arg334Gln)	TBC1D8 (R319Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713339	NM_001330348.2(TBC1D8):c.972G>A (p.Thr324=)	TBC1D8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2412226	NM_001330348.2(TBC1D8):c.971C>T (p.Thr324Met)	TBC1D8 (T309M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321820	NM_001330348.2(TBC1D8):c.907C>T (p.Arg303Trp)	TBC1D8 (R288W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174706	NM_001330348.2(TBC1D8):c.884C>T (p.Ala295Val)	TBC1D8 (A295V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262817	NM_001330348.2(TBC1D8):c.848A>G (p.Gln283Arg)	TBC1D8 (Q268R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597584	NM_001330348.2(TBC1D8):c.818A>C (p.Asn273Thr)	TBC1D8 (N258T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324741	NM_001330348.2(TBC1D8):c.797C>T (p.Thr266Met)	TBC1D8 (T266M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522477	NM_001330348.2(TBC1D8):c.790G>A (p.Asp264Asn)	TBC1D8 (D264N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562669	NM_001330348.2(TBC1D8):c.716C>T (p.Thr239Met)	TBC1D8 (T239M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207477	NM_001330348.2(TBC1D8):c.707G>A (p.Arg236Gln)	TBC1D8 (R236Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232869	NM_001330348.2(TBC1D8):c.683A>G (p.Asn228Ser)	TBC1D8 (N213S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3174705	NM_001330348.2(TBC1D8):c.589A>G (p.Ile197Val)	TBC1D8 (I182V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614501	NM_001330348.2(TBC1D8):c.580T>C (p.Tyr194His)	TBC1D8 (Y179H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345784	NM_001330348.2(TBC1D8):c.566G>A (p.Arg189His)	TBC1D8 (R174H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777998	NM_001330348.2(TBC1D8):c.525C>T (p.Val175=)	TBC1D8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2333669	NM_001330348.2(TBC1D8):c.510G>C (p.Glu170Asp)	TBC1D8 (E155D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174703	NM_001330348.2(TBC1D8):c.508G>A (p.Glu170Lys)	TBC1D8 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324743	NM_001330348.2(TBC1D8):c.488A>T (p.Glu163Val)	TBC1D8 (E148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174702	NM_001330348.2(TBC1D8):c.457G>A (p.Glu153Lys)	TBC1D8 (E138K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372910	NM_001330348.2(TBC1D8):c.329A>G (p.Gln110Arg)	TBC1D8 (Q95R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 58878	GRCh38/hg38 2q11.2(chr2:101080018-101646523)x3	CNOT11, CREG2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 3324747	NM_001330348.2(TBC1D8):c.223T>C (p.Ser75Pro)	TBC1D8 (S75P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556565	NM_001330348.2(TBC1D8):c.205C>G (p.Pro69Ala)	TBC1D8 (P69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324744	NM_001330348.2(TBC1D8):c.202G>A (p.Val68Ile)	TBC1D8 (V68I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252199	NM_001330348.2(TBC1D8):c.45G>T (p.Lys15Asn)	LOC129934458, TBC1D8 (K15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619211	NM_001330348.2(TBC1D8):c.11A>G (p.Lys4Arg)	LOC129934458, TBC1D8 (K4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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