TBC1D2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 3174597	NM_144572.2(TBC1D2B):c.2831G>A (p.Arg944His)	TBC1D2B (R832H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456142	NM_144572.2(TBC1D2B):c.2761C>A (p.Arg921Ser)	TBC1D2B (R921S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436964	NM_144572.2(TBC1D2B):c.2752C>T (p.Arg918Trp)	TBC1D2B (R768W +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 2645600	NM_144572.2(TBC1D2B):c.2642C>T (p.Ser881Leu)	TBC1D2B (S731L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3174596	NM_144572.2(TBC1D2B):c.2609A>G (p.Tyr870Cys)	TBC1D2B (Y869C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324688	NM_144572.2(TBC1D2B):c.2521G>A (p.Val841Ile)	TBC1D2B (V729I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342017	NM_144572.2(TBC1D2B):c.2497C>T (p.Leu833=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2608791	NM_144572.2(TBC1D2B):c.2473A>C (p.Thr825Pro)	TBC1D2B (T713P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207876	NM_144572.2(TBC1D2B):c.2471A>G (p.Tyr824Cys)	TBC1D2B (Y674C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713527	NM_144572.2(TBC1D2B):c.2456A>G (p.Gln819Arg)	TBC1D2B (Q819R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3174595	NM_144572.2(TBC1D2B):c.2398C>T (p.Arg800Trp)	TBC1D2B (R799W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098844	NM_144572.2(TBC1D2B):c.2378T>A (p.Leu793Ter)	TBC1D2B (L793* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 2265276	NM_144572.2(TBC1D2B):c.2354G>A (p.Arg785Gln)	TBC1D2B (R635Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058247	NM_144572.2(TBC1D2B):c.2353C>T (p.Arg785Ter)	TBC1D2B (R635* +3 more)	Single nucleotide variant (nonsense)	TBC1D2B-related disorder	GLikely pathogenic
Select item 2396304	NM_144572.2(TBC1D2B):c.2342T>C (p.Val781Ala)	TBC1D2B (V631A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098848	NM_144572.2(TBC1D2B):c.2295C>G (p.Tyr765Ter)	TBC1D2B (Y765* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 2645601	NM_144572.2(TBC1D2B):c.2289C>T (p.Leu763=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512502	NM_144572.2(TBC1D2B):c.2276T>C (p.Val759Ala)	TBC1D2B (V609A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694761	NM_144572.2(TBC1D2B):c.2270+4G>A	TBC1D2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3324690	NM_144572.2(TBC1D2B):c.2234G>A (p.Arg745Gln)	TBC1D2B (R744Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524947	NM_144572.2(TBC1D2B):c.2173T>A (p.Ser725Thr)	TBC1D2B (S575T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645602	NM_144572.2(TBC1D2B):c.2052G>A (p.Lys684=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208592	NM_144572.2(TBC1D2B):c.2046G>T (p.Lys682Asn)	TBC1D2B (K570N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243684	NM_144572.2(TBC1D2B):c.2033G>A (p.Arg678His)	TBC1D2B (R528H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633315	NM_144572.2(TBC1D2B):c.2016G>A (p.Trp672Ter)	TBC1D2B (W522* +3 more)	Single nucleotide variant (nonsense)	TBC1D2B-related disorder	GLikely pathogenic
Select item 2392261	NM_144572.2(TBC1D2B):c.1996G>A (p.Glu666Lys)	TBC1D2B (E665K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341297	NM_144572.2(TBC1D2B):c.1940G>C (p.Arg647Thr)	TBC1D2B (R497T +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 2645603	NM_144572.2(TBC1D2B):c.1890A>G (p.Glu630=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250849	NM_144572.2(TBC1D2B):c.1843G>A (p.Val615Ile)	TBC1D2B (V614I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301706	NM_144572.2(TBC1D2B):c.1742C>T (p.Pro581Leu)	TBC1D2B (P431L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645604	NM_144572.2(TBC1D2B):c.1704G>A (p.Leu568=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330480	NM_144572.2(TBC1D2B):c.1685G>T (p.Arg562Leu)	TBC1D2B (R561L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538403	NM_144572.2(TBC1D2B):c.1655C>T (p.Pro552Leu)	TBC1D2B (P440L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610282	NM_144572.2(TBC1D2B):c.1654C>T (p.Pro552Ser)	TBC1D2B (P551S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174592	NM_144572.2(TBC1D2B):c.1643A>C (p.Glu548Ala)	TBC1D2B (E436A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645605	NM_144572.2(TBC1D2B):c.1530C>G (p.Leu510=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174591	NM_144572.2(TBC1D2B):c.1501A>G (p.Lys501Glu)	TBC1D2B (K351E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098846	NM_144572.2(TBC1D2B):c.1480C>T (p.Gln494Ter)	TBC1D2B (Q494* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 2645606	NM_144572.2(TBC1D2B):c.1471-9_1471-8del	TBC1D2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2386634	NM_144572.2(TBC1D2B):c.1421C>T (p.Pro474Leu)	TBC1D2B (P473L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373113	NM_144572.2(TBC1D2B):c.1405G>A (p.Val469Met)	TBC1D2B (V357M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474685	NM_144572.2(TBC1D2B):c.1290G>C (p.Lys430Asn)	TBC1D2B (K429N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552546	NM_144572.2(TBC1D2B):c.1258G>A (p.Glu420Lys)	TBC1D2B (E308K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292773	NM_144572.2(TBC1D2B):c.1233G>C (p.Gln411His)	TBC1D2B (Q410H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411641	NM_144572.2(TBC1D2B):c.1159T>C (p.Cys387Arg)	TBC1D2B (C275R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329437	NM_144572.2(TBC1D2B):c.1153C>T (p.Arg385Trp)	TBC1D2B (R384W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274983	NM_144572.2(TBC1D2B):c.1149C>G (p.Ser383Arg)	TBC1D2B (S382R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174590	NM_144572.2(TBC1D2B):c.1134C>A (p.Asp378Glu)	TBC1D2B (D266E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174588	NM_144572.2(TBC1D2B):c.1097G>T (p.Arg366Leu)	TBC1D2B (R365L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488218	NM_144572.2(TBC1D2B):c.1096C>G (p.Arg366Gly)	TBC1D2B (R254G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377207	NM_144572.2(TBC1D2B):c.1085A>G (p.Lys362Arg)	TBC1D2B (K361R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174587	NM_144572.2(TBC1D2B):c.1007C>T (p.Pro336Leu)	TBC1D2B (P336L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645607	NM_144572.2(TBC1D2B):c.991G>A (p.Val331Ile)	TBC1D2B (V219I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2336972	NM_144572.2(TBC1D2B):c.971G>T (p.Gly324Val)	TBC1D2B (G323V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174603	NM_144572.2(TBC1D2B):c.940C>T (p.Arg314Cys)	TBC1D2B (R202C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174602	NM_144572.2(TBC1D2B):c.929C>T (p.Ser310Leu)	TBC1D2B (S309L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526636	NM_144572.2(TBC1D2B):c.919A>G (p.Ile307Val)	TBC1D2B (I307V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174601	NM_144572.2(TBC1D2B):c.893A>G (p.Tyr298Cys)	TBC1D2B (Y297C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721236	NM_144572.2(TBC1D2B):c.848-5T>C	TBC1D2B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2487276	NM_144572.2(TBC1D2B):c.811G>A (p.Glu271Lys)	TBC1D2B (E271K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174600	NM_144572.2(TBC1D2B):c.703C>T (p.Arg235Cys)	TBC1D2B (R123C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209636	NM_144572.2(TBC1D2B):c.674A>G (p.Asn225Ser)	TBC1D2B (N113S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098847	NM_144572.2(TBC1D2B):c.658_659del (p.Leu220fs)	TBC1D2B (L108fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 3174599	NM_144572.2(TBC1D2B):c.608C>T (p.Ala203Val)	TBC1D2B (A203V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262650	NM_144572.2(TBC1D2B):c.509A>G (p.Asn170Ser)	TBC1D2B (N170S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323666	NM_144572.2(TBC1D2B):c.475G>A (p.Gly159Arg)	TBC1D2B (G159R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098845	NM_144572.2(TBC1D2B):c.426dup (p.Asn143Ter)	TBC1D2B (N143* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GPathogenic
Select item 1683745	NM_144572.2(TBC1D2B):c.425delinsTT (p.Cys142fs)	TBC1D2B (C142fs +1 more)	Indel (frameshift variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GLikely pathogenic
Select item 2226971	NM_144572.2(TBC1D2B):c.385T>C (p.Tyr129His)	TBC1D2B (Y17H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174598	NM_144572.2(TBC1D2B):c.371G>A (p.Arg124His)	TBC1D2B (R12H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2260568	NM_144572.2(TBC1D2B):c.368A>G (p.Asn123Ser)	TBC1D2B (N11S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369986	NM_144572.2(TBC1D2B):c.361G>A (p.Ala121Thr)	TBC1D2B (A9T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544579	NM_144572.2(TBC1D2B):c.343G>A (p.Ala115Thr)	LOC130057678, TBC1D2B (A115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605071	NM_144572.2(TBC1D2B):c.311C>T (p.Pro104Leu)	LOC130057678, TBC1D2B (P104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257792	NM_144572.2(TBC1D2B):c.305C>G (p.Thr102Arg)	LOC130057678, TBC1D2B (T102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388192	NM_144572.2(TBC1D2B):c.299C>T (p.Pro100Leu)	LOC130057678, TBC1D2B (P100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263758	NM_144572.2(TBC1D2B):c.281C>T (p.Pro94Leu)	LOC130057678, TBC1D2B (P94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323452	NM_144572.2(TBC1D2B):c.278G>T (p.Gly93Val)	LOC130057678, TBC1D2B (G93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663793	NM_144572.2(TBC1D2B):c.274C>T (p.Gln92Ter)	LOC130057678, TBC1D2B (Q92*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GLikely pathogenic
Select item 3025190	NM_144572.2(TBC1D2B):c.244T>C (p.Leu82=)	TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375514	NM_144572.2(TBC1D2B):c.221A>G (p.Gln74Arg)	TBC1D2B (Q74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064911	NM_144572.2(TBC1D2B):c.220C>T (p.Gln74Ter)	TBC1D2B (Q74*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 3174594	NM_144572.2(TBC1D2B):c.212A>G (p.Lys71Arg)	TBC1D2B (K71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068025	NM_144572.2(TBC1D2B):c.197A>G (p.Tyr66Cys)	TBC1D2B (Y66C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures and gingival overgrowth	GUncertain significance
Select item 3174593	NM_144572.2(TBC1D2B):c.167G>T (p.Arg56Leu)	TBC1D2B (R56L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059042	NM_144572.2(TBC1D2B):c.159C>G (p.Tyr53Ter)	TBC1D2B (Y53*)	Single nucleotide variant (nonsense)	TBC1D2B-related disorder	GLikely pathogenic
Select item 2542468	NM_144572.2(TBC1D2B):c.89C>A (p.Pro30Gln)	TBC1D2B (P30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303376	NM_144572.2(TBC1D2B):c.82G>C (p.Ala28Pro)	TBC1D2B (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324689	NM_144572.2(TBC1D2B):c.60G>C (p.Gln20His)	LOC130057679, TBC1D2B (Q20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352098	NM_144572.2(TBC1D2B):c.32GCG[7] (p.Gly15_Glu16insGlyGly)	LOC130057679, TBC1D2B	Microsatellite (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 768719	NM_144572.2(TBC1D2B):c.36C>G (p.Gly12=)	LOC130057679, TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041747	NM_144572.2(TBC1D2B):c.23C>G (p.Ala8Gly)	LOC130057679, TBC1D2B (A8G)	Single nucleotide variant (missense variant)	TBC1D2B-related disorder	GBenign
Select item 2334956	NM_144572.2(TBC1D2B):c.22G>T (p.Ala8Ser)	LOC130057679, TBC1D2B (A8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174589	NM_144572.2(TBC1D2B):c.10G>C (p.Ala4Pro)	LOC130057679, TBC1D2B (A4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic

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