ClinVar for Gene (Select 23093) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330019	NM_015072.5(TTLL5):c.3473A>G (p.Gln1158Arg)	TTLL5 (Q1158R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330017	NM_015072.5(TTLL5):c.788A>C (p.Gln263Pro)	TTLL5 (Q263P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330016	NM_015072.5(TTLL5):c.1488G>A (p.Gly496=)	TTLL5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3330015	NM_015072.5(TTLL5):c.112A>G (p.Arg38Gly)	TTLL5 (R38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330014	NM_015072.5(TTLL5):c.587C>T (p.Pro196Leu)	TTLL5 (P196L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3244096	NC_000014.8:g.(?_76286330)_(76286524_?)dup	TTLL5	Duplication	not provided	GLikely pathogenic
Select item 3244095	NC_000014.8:g.(?_76129493)_(76420789_?)dup	TTLL5	Duplication	not provided	GUncertain significance
Select item 3244093	NC_000014.8:g.(?_76230938)_(76259463_?)del	TTLL5	Deletion	not provided	GPathogenic
Select item 3244092	NC_000014.8:g.(?_76147868)_(76147990_?)del	TTLL5	Deletion	not provided	GPathogenic
Select item 3244091	NC_000014.8:g.(?_76238057)_(76238217_?)del	TTLL5	Deletion	not provided	GPathogenic
Select item 3244033	NC_000014.8:g.(?_76349008)_(76967064_?)dup	ESRRB, GPATCH2L +3 more	Duplication	Rienhoff syndrome	GUncertain significance
Select item 3184630	NM_015072.5(TTLL5):c.847G>T (p.Asp283Tyr)	TTLL5 (D283Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184629	NM_015072.5(TTLL5):c.3515G>A (p.Arg1172Gln)	TTLL5 (R1172Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184627	NM_015072.5(TTLL5):c.2884C>T (p.Arg962Cys)	TTLL5 (R962C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184625	NM_015072.5(TTLL5):c.2272G>T (p.Val758Leu)	TTLL5 (V758L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184624	NM_015072.5(TTLL5):c.2233A>G (p.Arg745Gly)	TTLL5 (R745G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184623	NM_015072.5(TTLL5):c.1519T>G (p.Tyr507Asp)	TTLL5 (Y507D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184622	NM_015072.5(TTLL5):c.1334C>T (p.Ser445Leu)	TTLL5 (S445L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184621	NM_015072.5(TTLL5):c.1286G>A (p.Cys429Tyr)	TTLL5 (C429Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184620	NM_015072.5(TTLL5):c.1283G>A (p.Arg428His)	TTLL5 (R428H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022649	NM_015072.5(TTLL5):c.951A>G (p.Val317=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019822	NM_015072.5(TTLL5):c.260_261dup (p.Glu88fs)	TTLL5 (E88fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3010724	NM_015072.5(TTLL5):c.615T>C (p.Ile205=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006689	NM_015072.5(TTLL5):c.741-10C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000907	NM_015072.5(TTLL5):c.740+14T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999021	NM_015072.5(TTLL5):c.273A>G (p.Pro91=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998914	NM_015072.5(TTLL5):c.957C>T (p.Asp319=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994992	NM_015072.5(TTLL5):c.561del (p.Arg188fs)	TTLL5 (R188fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2991681	NM_015072.5(TTLL5):c.1282-2A>G	TTLL5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2990891	NM_015072.5(TTLL5):c.2137-18C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990284	NM_015072.5(TTLL5):c.265-19T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989456	NM_015072.5(TTLL5):c.489C>T (p.Tyr163=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984713	NM_015072.5(TTLL5):c.831A>G (p.Gly277=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984629	NM_015072.5(TTLL5):c.2136+13T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980682	NM_015072.5(TTLL5):c.3006G>A (p.Lys1002=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980052	NM_015072.5(TTLL5):c.342T>G (p.Ser114=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978936	NM_015072.5(TTLL5):c.3159C>T (p.Leu1053=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974503	NM_015072.5(TTLL5):c.3525A>G (p.Ala1175=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966859	NM_015072.5(TTLL5):c.1187-20G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965537	NM_015072.5(TTLL5):c.399A>G (p.Arg133=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963104	NM_015072.5(TTLL5):c.1395+14C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960386	NM_015072.5(TTLL5):c.1281+19A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960148	NM_015072.5(TTLL5):c.265-12G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958616	NM_015072.5(TTLL5):c.789_793del (p.Gln263fs)	TTLL5 (Q263fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2956845	NM_015072.5(TTLL5):c.3168A>G (p.Gln1056=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955301	NM_015072.5(TTLL5):c.1112CTT[1] (p.Ser372del)	TTLL5 (S372del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2888538	NM_015072.5(TTLL5):c.2890C>T (p.Arg964Ter)	TTLL5 (R964*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2876799	NM_015072.5(TTLL5):c.740+11G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875216	NM_015072.5(TTLL5):c.2603-23TTGTT[2]	TTLL5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2873247	NM_015072.5(TTLL5):c.1396-16C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872275	NM_015072.5(TTLL5):c.935-10T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871443	NM_015072.5(TTLL5):c.1089del (p.Trp363fs)	TTLL5 (W363fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2868265	NM_015072.5(TTLL5):c.1914T>C (p.Arg638=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868222	NM_015072.5(TTLL5):c.1043-20G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866278	NM_015072.5(TTLL5):c.3401del (p.Val1134fs)	TTLL5 (V1134fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2851244	NM_015072.5(TTLL5):c.1353A>G (p.Pro451=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847518	NM_015072.5(TTLL5):c.56AGG[1] (p.Glu20del)	TTLL5 (E20del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2844221	NM_015072.5(TTLL5):c.3105G>A (p.Arg1035=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834593	NM_015072.5(TTLL5):c.1482A>G (p.Ile494Met)	TTLL5 (I494M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828237	NM_015072.5(TTLL5):c.1962G>A (p.Glu654=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827354	NM_015072.5(TTLL5):c.2478G>A (p.Lys826=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825833	NM_015072.5(TTLL5):c.3100C>T (p.Gln1034Ter)	TTLL5 (Q1034*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2825243	NM_015072.5(TTLL5):c.3522+18T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819360	NM_015072.5(TTLL5):c.663G>T (p.Lys221Asn)	TTLL5 (K221N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815406	NM_015072.5(TTLL5):c.960G>C (p.Leu320=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807540	NM_015072.5(TTLL5):c.1487+8G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803846	NM_015072.5(TTLL5):c.181+18C>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802084	NM_015072.5(TTLL5):c.561dup (p.Arg188fs)	TTLL5 (R188fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2794544	NM_015072.5(TTLL5):c.2986+14C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789017	NM_015072.5(TTLL5):c.265-12G>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788018	NM_015072.5(TTLL5):c.3523-19T>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786826	NM_015072.5(TTLL5):c.3329del (p.Ser1110fs)	TTLL5 (S1110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2785426	NM_015072.5(TTLL5):c.733T>C (p.Leu245=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770378	NM_015072.5(TTLL5):c.2365C>T (p.Gln789Ter)	TTLL5 (Q789*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2758054	NM_015072.5(TTLL5):c.1873T>G (p.Leu625Val)	TTLL5 (L625V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754417	NM_015072.5(TTLL5):c.2387+20G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752416	NM_015072.5(TTLL5):c.716A>G (p.Tyr239Cys)	TTLL5 (Y239C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746887	NM_015072.5(TTLL5):c.2388-8_2388-6del	TTLL5	Deletion (intron variant)	not provided	GLikely benign
Select item 2744617	NM_015072.5(TTLL5):c.1709-20T>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742587	NM_015072.5(TTLL5):c.313C>T (p.Leu105=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723762	NM_015072.5(TTLL5):c.756A>G (p.Arg252=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704796	NM_015072.5(TTLL5):c.2394T>A (p.Ala798=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697448	NM_015072.5(TTLL5):c.938T>G (p.Leu313Trp)	TTLL5 (L313W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697399	NM_015072.5(TTLL5):c.2106C>T (p.Ala702=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693054	NM_015072.5(TTLL5):c.95G>A (p.Trp32Ter)	TTLL5 (W32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644375	NM_015072.5(TTLL5):c.338T>G (p.Leu113Arg)	TTLL5 (L113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636182	NM_015072.5(TTLL5):c.357_360dup (p.His121Ter)	TTLL5 (H121*)	Duplication (nonsense)	TTLL5-related disorder	GLikely pathogenic
Select item 2615488	NM_015072.5(TTLL5):c.853C>A (p.Pro285Thr)	TTLL5 (P285T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614102	NM_015072.5(TTLL5):c.3834C>G (p.His1278Gln)	TTLL5 (H1278Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604199	NM_015072.5(TTLL5):c.434A>G (p.His145Arg)	TTLL5 (H145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578721	NM_015072.5(TTLL5):c.940A>G (p.Met314Val)	TTLL5 (M314V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577498	NM_015072.5(TTLL5):c.2412_2420delinsAATTTTTT (p.Thr805fs)	TTLL5 (T805fs)	Indel (frameshift variant)	Cone-rod dystrophy	GLikely pathogenic
Select item 2558554	NM_015072.5(TTLL5):c.1729A>G (p.Met577Val)	TTLL5 (M577V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556430	NM_015072.5(TTLL5):c.611A>C (p.Asn204Thr)	TTLL5 (N204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541175	NM_015072.5(TTLL5):c.212G>T (p.Arg71Leu)	TTLL5 (R71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540387	NM_015072.5(TTLL5):c.3492G>C (p.Gln1164His)	TTLL5 (Q1164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483220	NM_015072.5(TTLL5):c.2492A>G (p.Tyr831Cys)	TTLL5 (Y831C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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