"Ambry Genetics"[submitter] AND "TBCD"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2306470	NM_005993.5(TBCD):c.54C>G (p.Asp18Glu)	TBCD (D18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1895619	NM_005993.5(TBCD):c.82G>A (p.Glu28Lys)	TBCD (E28K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2517461	NM_005993.5(TBCD):c.110G>A (p.Arg37Gln)	TBCD (R37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619269	NM_005993.5(TBCD):c.379G>A (p.Ala127Thr)	TBCD (A127T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297046	NM_005993.5(TBCD):c.535G>C (p.Gly179Arg)	TBCD (G162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512664	NM_005993.5(TBCD):c.541G>C (p.Ala181Pro)	TBCD (A181P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2060277	NM_005993.5(TBCD):c.553A>G (p.Ile185Val)	TBCD (I168V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521490	NM_005993.5(TBCD):c.625G>A (p.Val209Ile)	TBCD (V209I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2289881	NM_005993.5(TBCD):c.704A>T (p.Asn235Ile)	TBCD (N218I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1962127	NM_005993.5(TBCD):c.704A>G (p.Asn235Ser)	TBCD (N218S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2465860	NM_005993.5(TBCD):c.749T>C (p.Met250Thr)	TBCD (M233T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 489140	NM_005993.5(TBCD):c.988C>T (p.Gln330Ter)	TBCD (Q330*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 429334	NM_005993.5(TBCD):c.1244C>T (p.Ala415Val)	TBCD (A415V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2386515	NM_005993.5(TBCD):c.1265C>T (p.Ala422Val)	TBCD (A405V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2319556	NM_024702.3(ZNF750):c.2109G>C (p.Lys703Asn)	ZNF750, TBCD (K703N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527918	NM_024702.3(ZNF750):c.2072G>A (p.Ser691Asn)	TBCD, ZNF750 (S691N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282150	NM_024702.3(ZNF750):c.2066G>C (p.Arg689Thr)	TBCD, ZNF750 (R689T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459238	NM_024702.3(ZNF750):c.2017A>G (p.Met673Val)	TBCD, ZNF750 (M673V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270543	NM_024702.3(ZNF750):c.2012G>A (p.Ser671Asn)	TBCD, ZNF750 (S671N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512322	NM_024702.3(ZNF750):c.1976C>T (p.Pro659Leu)	TBCD, ZNF750 (P659L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 720410	NM_024702.3(ZNF750):c.1970C>G (p.Ala657Gly)	ZNF750, TBCD (A657G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2388861	NM_024702.3(ZNF750):c.1906G>A (p.Val636Met)	TBCD, ZNF750 (V636M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469005	NM_024702.3(ZNF750):c.1898C>T (p.Thr633Met)	TBCD, ZNF750 (T633M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461580	NM_024702.3(ZNF750):c.1881C>A (p.Ser627Arg)	TBCD, ZNF750 (S627R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279893	NM_024702.3(ZNF750):c.1813G>A (p.Asp605Asn)	TBCD, ZNF750 (D605N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204887	NM_024702.3(ZNF750):c.1733C>G (p.Ala578Gly)	TBCD, ZNF750 (A578G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403908	NM_024702.3(ZNF750):c.1715C>A (p.Pro572Gln)	ZNF750, TBCD (P572Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546640	NM_024702.3(ZNF750):c.1706C>G (p.Pro569Arg)	TBCD, ZNF750 (P569R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569908	NM_024702.3(ZNF750):c.1699G>A (p.Ala567Thr)	TBCD, ZNF750 (A567T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399936	NM_024702.3(ZNF750):c.1597C>G (p.Gln533Glu)	TBCD, ZNF750 (Q533E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555718	NM_024702.3(ZNF750):c.1584C>G (p.His528Gln)	TBCD, ZNF750 (H528Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382923	NM_024702.3(ZNF750):c.1519G>A (p.Asp507Asn)	TBCD, ZNF750 (D507N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354730	NM_024702.3(ZNF750):c.1420G>A (p.Ala474Thr)	TBCD, ZNF750 (A474T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371180	NM_024702.3(ZNF750):c.1321G>A (p.Ala441Thr)	TBCD, ZNF750 (A441T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2520984	NM_024702.3(ZNF750):c.1255G>A (p.Asp419Asn)	TBCD, ZNF750 (D419N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2288283	NM_024702.3(ZNF750):c.1238G>A (p.Gly413Glu)	ZNF750, TBCD (G413E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283635	NM_024702.3(ZNF750):c.1238G>C (p.Gly413Ala)	ZNF750, TBCD (G413A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475477	NM_024702.3(ZNF750):c.1210G>C (p.Ala404Pro)	TBCD, ZNF750 (A404P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208741	NM_024702.3(ZNF750):c.1100C>T (p.Pro367Leu)	TBCD, ZNF750 (P367L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376385	NM_024702.3(ZNF750):c.1067T>A (p.Val356Asp)	TBCD, ZNF750 (V356D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555892	NM_024702.3(ZNF750):c.787G>A (p.Gly263Arg)	TBCD, ZNF750 (G263R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321469	NM_024702.3(ZNF750):c.769T>C (p.Ser257Pro)	TBCD, ZNF750 (S257P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318649	NM_024702.3(ZNF750):c.694T>A (p.Ser232Thr)	TBCD, ZNF750 (S232T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209640	NM_024702.3(ZNF750):c.595G>A (p.Ala199Thr)	TBCD, ZNF750 (A199T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372255	NM_024702.3(ZNF750):c.565G>A (p.Ala189Thr)	TBCD, ZNF750 (A189T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357888	NM_024702.3(ZNF750):c.496G>A (p.Gly166Ser)	TBCD, ZNF750 (G166S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477029	NM_024702.3(ZNF750):c.328G>A (p.Asp110Asn)	TBCD, ZNF750 (D110N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316550	NM_024702.3(ZNF750):c.269C>T (p.Ser90Phe)	ZNF750, TBCD (S90F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286962	NM_024702.3(ZNF750):c.256G>A (p.Ala86Thr)	ZNF750, TBCD (A86T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2259260	NM_024702.3(ZNF750):c.19C>T (p.Arg7Trp)	TBCD, ZNF750 (R7W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510038	NM_005993.5(TBCD):c.1483G>A (p.Val495Met)	TBCD (V478M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 392122	NM_005993.5(TBCD):c.1615G>A (p.Val539Ile)	TBCD (V539I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2377903	NM_005993.5(TBCD):c.1695C>A (p.Asp565Glu)	TBCD (D548E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062184	NM_005993.5(TBCD):c.1699C>G (p.Leu567Val)	TBCD (L550V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1526119	NM_005993.5(TBCD):c.1720C>T (p.His574Tyr)	TBCD (H574Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1483505	NM_005993.5(TBCD):c.1751C>T (p.Ala584Val)	TBCD (A584V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2477150	NM_005993.5(TBCD):c.1784C>A (p.Pro595His)	TBCD (P595H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386335	NM_005993.5(TBCD):c.1826T>G (p.Met609Arg)	TBCD (M609R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2265581	NM_005993.5(TBCD):c.1837C>T (p.Pro613Ser)	TBCD (P613S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612768	NM_005993.5(TBCD):c.1851G>A (p.Met617Ile)	TBCD (M600I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312967	NM_005993.5(TBCD):c.1913A>G (p.Gln638Arg)	TBCD (Q638R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2385913	NM_005993.5(TBCD):c.1931C>T (p.Thr644Met)	TBCD (T627M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066101	NM_005993.5(TBCD):c.2095G>A (p.Val699Ile)	LOC126862673, TBCD (V672I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2058015	NM_005993.5(TBCD):c.2137C>T (p.His713Tyr)	TBCD (H713Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2296612	NM_005993.5(TBCD):c.2164C>A (p.Arg722Ser)	TBCD (R705S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483583	NM_005993.5(TBCD):c.2225T>C (p.Met742Thr)	TBCD (M742T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034235	NM_005993.5(TBCD):c.2239G>A (p.Glu747Lys)	TBCD (E747K)	Single nucleotide variant (missense variant)	TBCD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1034236	NM_005993.5(TBCD):c.2273C>T (p.Thr758Met)	TBCD (T758M)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 740006	NM_005993.5(TBCD):c.2327C>T (p.Ser776Leu)	TBCD (S776L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2515142	NM_005993.5(TBCD):c.2351G>A (p.Gly784Asp)	TBCD (G767D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230666	NM_005993.5(TBCD):c.2366G>C (p.Gly789Ala)	TBCD (G772A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1394140	NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp)	TBCD (R790W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2258186	NM_005993.5(TBCD):c.2369G>A (p.Arg790Gln)	TBCD (R773Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1510324	NM_005993.5(TBCD):c.2419G>A (p.Glu807Lys)	TBCD (E807K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 521488	NM_005993.5(TBCD):c.2468C>A (p.Ala823Glu)	TBCD (A823E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356642	NM_005993.5(TBCD):c.2524G>A (p.Gly842Arg)	TBCD (G825R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1372626	NM_005993.5(TBCD):c.2582C>T (p.Thr861Met)	TBCD (T861M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1640550	NM_005993.5(TBCD):c.2609+4C>T	TBCD	Single nucleotide variant (intron variant)	TBCD-related condition +2 more	GLikely benign
Select item 1030995	NM_005993.5(TBCD):c.2690A>G (p.His897Arg)	TBCD (H897R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more	GUncertain significance
Select item 2380279	NM_005993.5(TBCD):c.2720C>T (p.Ala907Val)	TBCD (A907V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405053	NM_005993.5(TBCD):c.2723A>G (p.Gln908Arg)	TBCD (Q908R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2382541	NM_005993.5(TBCD):c.2780C>T (p.Thr927Met)	TBCD (T900M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 546810	NM_005993.5(TBCD):c.2852+3A>G	TBCD	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1302399	NM_005993.5(TBCD):c.2867C>T (p.Ser956Phe)	TBCD (S956F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2230824	NM_005993.5(TBCD):c.2869G>A (p.Val957Met)	TBCD (V930M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507847	NM_005993.5(TBCD):c.2944G>A (p.Val982Ile)	TBCD (V965I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391050	NM_005993.5(TBCD):c.2993T>G (p.Ile998Ser)	TBCD (I971S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191459	NM_005993.5(TBCD):c.3160G>A (p.Gly1054Ser)	TBCD (G1027S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2218371	NM_005993.5(TBCD):c.3277G>A (p.Ala1093Thr)	TBCD (A1093T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2085532	NM_005993.5(TBCD):c.3424G>A (p.Val1142Ile)	TBCD (V1125I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2253148	NM_005993.5(TBCD):c.3433G>A (p.Ala1145Thr)	TBCD (A1128T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488121	NM_005993.5(TBCD):c.3451G>T (p.Val1151Leu)	TBCD (V1134L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302398	NM_005993.5(TBCD):c.3476C>T (p.Ala1159Val)	TBCD (A1159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028464	NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile)	TBCD (V1180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 94