ClinVar for Gene (Select 10342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379482	NM_006070.6(TFG):c.404T>C (p.Ile135Thr)	TFG (I135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375106	NC_000003.11:g.(?_100428337)_(100438903_100447555)dup	TFG	Duplication	not specified	GBenign
Select item 3370995	NM_006070.6(TFG):c.273T>G (p.Asn91Lys)	TFG (N91K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347304	NM_006070.6(TFG):c.722-10del	TFG	Deletion (intron variant)	TFG-related disorder	GLikely benign
Select item 3342020	NM_006070.6(TFG):c.1132C>G (p.Pro378Ala)	TFG (P374A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3246886	NC_000003.11:g.(?_100432530)_(100432733_?)dup	TFG	Duplication	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GBenign
Select item 3176542	NM_006070.6(TFG):c.481A>G (p.Met161Val)	TFG (M161V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176541	NM_006070.6(TFG):c.173A>G (p.Tyr58Cys)	TFG (Y58C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3051495	NM_006070.6(TFG):c.722-8del	TFG	Deletion (intron variant)	TFG-related disorder	GLikely benign
Select item 2954394	NM_006070.6(TFG):c.585A>C (p.Pro195=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2954201	NM_006070.6(TFG):c.580+19C>T	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2952706	NM_006070.6(TFG):c.808A>C (p.Ile270Leu)	TFG (I266L +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2952418	NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)	TFG (G396E +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2952327	NM_006070.6(TFG):c.280C>A (p.Pro94Thr)	TFG (P94T)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2951843	NM_006070.6(TFG):c.774G>C (p.Pro258=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2951753	NM_006070.6(TFG):c.722-10G>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2951451	NM_006070.6(TFG):c.1118dup (p.Pro374fs)	TFG (P370fs +1 more)	Duplication (frameshift variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2950416	NM_006070.6(TFG):c.80A>G (p.His27Arg)	TFG (H27R)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2950032	NM_006070.6(TFG):c.489A>G (p.Ala163=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2949484	NM_006070.6(TFG):c.820+19G>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2949266	NM_006070.6(TFG):c.230C>T (p.Ala77Val)	TFG (A77V)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2948815	NM_006070.6(TFG):c.721+14T>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2947528	NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)	TFG (G385D +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2947382	NM_006070.6(TFG):c.184+6A>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2947332	NM_006070.6(TFG):c.597T>C (p.Pro199=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2947141	NM_006070.6(TFG):c.684A>G (p.Pro228=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2947109	NM_006070.6(TFG):c.518A>G (p.Asn173Ser)	TFG (N173S)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2945304	NM_006070.6(TFG):c.1202A>G (p.Ter401=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2945202	NM_006070.6(TFG):c.1097T>A (p.Leu366His)	TFG (L366H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2945125	NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)	TFG (Y339* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2944895	NM_006070.6(TFG):c.264A>G (p.Leu88=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2944387	NM_006070.6(TFG):c.541_543del (p.Val181del)	TFG (V181del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2944080	NM_006070.6(TFG):c.880C>A (p.Gln294Lys)	TFG (Q294K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2943284	NM_006070.6(TFG):c.33A>T (p.Leu11=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2942510	NM_006070.6(TFG):c.954G>A (p.Gln318=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2941799	NM_006070.6(TFG):c.332A>C (p.Glu111Ala)	TFG (E111A)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2941433	NM_006070.6(TFG):c.17A>C (p.Asp6Ala)	TFG (D6A)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2940870	NM_006070.6(TFG):c.830G>A (p.Ser277Asn)	TFG (S273N +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2940399	NM_006070.6(TFG):c.185-13T>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2940180	NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)	TFG (N334D +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2939756	NM_006070.6(TFG):c.352C>T (p.Arg118Cys)	TFG (R118C)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2938585	NM_006070.6(TFG):c.715A>G (p.Ile239Val)	TFG (I239V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2938299	NM_006070.6(TFG):c.820+18G>A	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2938271	NM_006070.6(TFG):c.729G>A (p.Met243Ile)	TFG (M243I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2938252	NM_006070.6(TFG):c.796C>G (p.Gln266Glu)	TFG (Q262E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2938007	NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)	TFG (S348G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2937014	NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)	TFG (R385G +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2936851	NM_006070.6(TFG):c.166A>G (p.Ile56Val)	TFG (I56V)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2936668	NM_006070.6(TFG):c.324A>G (p.Glu108=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2936462	NM_006070.6(TFG):c.721+20A>T	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2935772	NM_006070.6(TFG):c.184+5G>A	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2934667	NM_006070.6(TFG):c.636C>T (p.Ser212=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2934582	NM_006070.6(TFG):c.338G>T (p.Arg113Leu)	TFG (R113L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2934050	NM_006070.6(TFG):c.709G>A (p.Gly237Ser)	TFG (G237S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2933789	NM_006070.6(TFG):c.99T>C (p.Tyr33=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2933734	NM_006070.6(TFG):c.923C>T (p.Pro308Leu)	TFG (P308L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2933625	NM_006070.6(TFG):c.330A>G (p.Ile110Met)	TFG (I110M)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2932000	NM_006070.6(TFG):c.524A>G (p.Asp175Gly)	TFG (D175G)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2930061	NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)	TFG (Y253C +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2929151	NM_006070.6(TFG):c.722-25TG[5]	TFG	Microsatellite (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2927334	NM_006070.6(TFG):c.722-8G>A	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2926930	NM_006070.6(TFG):c.870A>T (p.Gly290=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2925238	NM_006070.6(TFG):c.600A>G (p.Ala200=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2924931	NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)	TFG (T333A +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2923531	NM_006070.6(TFG):c.580+16A>G	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2923250	NM_006070.6(TFG):c.160G>A (p.Val54Ile)	TFG (V54I)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2654004	NM_006070.6(TFG):c.562A>G (p.Thr188Ala)	TFG (T188A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635406	NM_006070.6(TFG):c.145C>A (p.Leu49Met)	TFG (L49M)	Single nucleotide variant (missense variant)	TFG-related disorder	GUncertain significance
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 2501480	NM_006070.6(TFG):c.451G>C (p.Asp151His)	TFG (D151H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498936	NM_006070.6(TFG):c.416-633C>T	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2437053	NM_006070.6(TFG):c.922C>T (p.Pro308Ser)	TFG (P304S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437052	NM_006070.6(TFG):c.547T>C (p.Ser183Pro)	TFG (S183P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437051	NM_006070.6(TFG):c.290T>C (p.Leu97Pro)	TFG (L97P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2335405	NM_006070.6(TFG):c.928C>G (p.Gln310Glu)	TFG (Q310E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332455	NM_006070.6(TFG):c.691G>C (p.Gly231Arg)	TFG (G231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203564	NM_006070.6(TFG):c.276C>T (p.Gly92=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2195864	NM_006070.6(TFG):c.820+15_820+19del	TFG	Deletion (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2192190	NM_006070.6(TFG):c.641C>G (p.Ser214Cys)	TFG (S214C)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2169657	NM_006070.6(TFG):c.303G>A (p.Gln101=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2169512	NM_006070.6(TFG):c.197T>C (p.Ile66Thr)	TFG (I66T)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2158429	NM_006070.6(TFG):c.53G>C (p.Gly18Ala)	TFG (G18A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2157571	NM_006070.6(TFG):c.581-14_581-11del	TFG	Deletion (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2154424	NM_006070.6(TFG):c.722-25TG[6]	TFG	Microsatellite (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2153618	NM_006070.6(TFG):c.268+18del	TFG	Deletion (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2148435	NM_006070.6(TFG):c.927A>G (p.Gln309=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2144339	NM_006070.6(TFG):c.268+7A>G	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2140510	NM_006070.6(TFG):c.581-10G>T	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2137923	NM_006070.6(TFG):c.162A>C (p.Val54=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2137304	NM_006070.6(TFG):c.581-8C>G	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2134982	NM_006070.6(TFG):c.269-13G>A	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 2133448	NM_006070.6(TFG):c.766C>A (p.Gln256Lys)	TFG (Q256K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2126515	NM_006070.6(TFG):c.254A>C (p.Lys85Thr)	TFG (K85T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2123224	NM_006070.6(TFG):c.833A>C (p.Gln278Pro)	TFG (Q278P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 2120358	NM_006070.6(TFG):c.783A>G (p.Pro261=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2119006	NM_006070.6(TFG):c.1131G>A (p.Gly377=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2118376	NM_006070.6(TFG):c.925C>G (p.Gln309Glu)	TFG (Q305E +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance

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