"GeneDx"[submitter] AND "TFG"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 144848	GRCh38/hg38 3q12.2(chr3:100641848-100725206)x4	ADGRG7, LOC129937149 +2 more	Copy number gain	See cases	GBenign/Likely benign
Select item 144847	GRCh38/hg38 3q12.2(chr3:100641848-100725206)x5	ADGRG7, LOC129937149 +2 more	Copy number gain	See cases	GBenign
Select item 144846	GRCh38/hg38 3q12.2(chr3:100641848-100725206)x3	ADGRG7, LOC129937149 +2 more	Copy number gain	See cases	GBenign/Likely benign
Select item 1243867	NC_000003.12:g.100709217T>C	TFG	Single nucleotide variant	not provided	GBenign
Select item 1237331	NC_000003.12:g.100709274G>A	TFG	Single nucleotide variant	not provided	GBenign
Select item 378883	NM_006070.5(TFG):c.-323G>T	TFG	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1280370	NM_006070.5(TFG):c.-287delT	TFG	Deletion (intron variant)	not provided	GBenign
Select item 1291855	NM_006070.6(TFG):c.-253A>G	TFG	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 670587	NM_006070.6(TFG):c.-149G>C	TFG	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1257482	NM_006070.6(TFG):c.-44+79T>C	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212654	NM_006070.6(TFG):c.-43-161A>G	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301296	NM_006070.6(TFG):c.-43-70_-43-66del	TFG	Deletion (intron variant)	not provided	GBenign
Select item 423136	NM_006070.6(TFG):c.-43-1del	TFG	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 432643	NM_006070.6(TFG):c.24T>G (p.Ser8Arg)	TFG (S8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217000	NM_006070.6(TFG):c.68G>T (p.Arg23Leu)	TFG (R23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189956	NM_006070.6(TFG):c.125G>A (p.Arg42Gln)	TFG (R42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234789	NM_006070.6(TFG):c.184+33_184+34insCT	TFG	Insertion (intron variant)	not provided	GBenign
Select item 1203407	NM_006070.6(TFG):c.184+33_184+34insCTT	TFG	Insertion (intron variant)	not provided	GLikely benign
Select item 1190046	NM_006070.6(TFG):c.184+38dup	TFG	Duplication (intron variant)	not provided	GLikely benign
Select item 1199880	NM_006070.6(TFG):c.184+55dup	TFG	Duplication (intron variant)	not provided	GLikely benign
Select item 1246543	NM_006070.6(TFG):c.184+39A>T	TFG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1226803	NM_006070.6(TFG):c.184+55del	TFG	Deletion (intron variant)	not provided	GBenign
Select item 1286544	NM_006070.6(TFG):c.184+40A>T	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187448	NM_006070.6(TFG):c.184+41A>T	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279578	NM_006070.6(TFG):c.184+54A>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669894	NM_006070.6(TFG):c.184+262C>T	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674181	NM_006070.6(TFG):c.185-57T>C	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293411	NM_006070.6(TFG):c.185-35A>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225580	NM_006070.6(TFG):c.185-10del	TFG	Deletion (intron variant)	not provided	GBenign
Select item 386659	NM_006070.6(TFG):c.258G>T (p.Leu86=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +3 more	GBenign/Likely benign
Select item 670746	NM_006070.6(TFG):c.268+223del	TFG	Deletion (intron variant)	not provided	GBenign
Select item 1241422	NM_006070.6(TFG):c.268+289A>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675704	NM_006070.6(TFG):c.269-238C>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246290	NM_006070.6(TFG):c.269-179dup	TFG	Duplication (intron variant)	not provided	GBenign
Select item 1211280	NM_006070.6(TFG):c.269-141T>A	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186537	NM_006070.6(TFG):c.269-141_269-140insA	TFG	Insertion (intron variant)	not provided	GLikely benign
Select item 673469	NM_006070.6(TFG):c.269-140T>A	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217631	NM_006070.6(TFG):c.269-139A>T	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179640	NM_006070.6(TFG):c.269-110T>C	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 100909	NM_006070.6(TFG):c.316C>T (p.Arg106Cys)	TFG (R106C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1986386	NM_006070.6(TFG):c.325C>T (p.Leu109=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GConflicting classifications of pathogenicity
Select item 864373	NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)	TFG (S132Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 380301	NM_006070.6(TFG):c.415+16A>G	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +3 more	GBenign
Select item 675705	NM_006070.6(TFG):c.415+89G>A	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212387	NM_006070.6(TFG):c.415+230G>A	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181622	NM_006070.6(TFG):c.416-181T>A	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378719	NM_006070.6(TFG):c.416-9T>C	TFG	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 1313146	NM_006070.6(TFG):c.493A>G (p.Met165Val)	TFG (M165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 663351	NM_006070.6(TFG):c.545T>C (p.Met182Thr)	TFG (M182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 809518	NM_006070.6(TFG):c.550G>A (p.Ala184Thr)	TFG (A184T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +2 more	GUncertain significance
Select item 378720	NM_006070.6(TFG):c.552G>A (p.Ala184=)	TFG	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1236520	NM_006070.6(TFG):c.580+50G>A	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223228	NM_006070.6(TFG):c.580+252G>A	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669897	NM_006070.6(TFG):c.580+264T>C	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667550	NM_006070.6(TFG):c.581-281T>C	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 466410	NM_006070.6(TFG):c.594T>G (p.Ala198=)	TFG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 378721	NM_006070.6(TFG):c.663C>A (p.Gly221=)	TFG	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 855052	NM_006070.6(TFG):c.664G>A (p.Val222Ile)	TFG (V222I)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +3 more	GUncertain significance
Select item 1313147	NM_006070.6(TFG):c.720A>C (p.Glu240Asp)	TFG (E240D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 670747	NM_006070.6(TFG):c.721+50del	TFG	Deletion (intron variant)	not provided	GBenign
Select item 1228701	NM_006070.6(TFG):c.721+242C>T	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673632	NM_006070.6(TFG):c.721+269G>C	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673633	NM_006070.6(TFG):c.721+270A>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267258	NM_006070.6(TFG):c.722-25TG[11]	TFG	Microsatellite (intron variant)	not provided	GBenign
Select item 1231038	NM_006070.6(TFG):c.722-25TG[10]	TFG	Microsatellite (intron variant)	not provided	GBenign
Select item 1179683	NM_006070.6(TFG):c.722-26T>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510046	NM_006070.6(TFG):c.722-25TG[12]	TFG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199662	NM_006070.6(TFG):c.722-25TG[8]	TFG	Microsatellite (intron variant)	not provided	GLikely benign
Select item 378722	NM_006070.6(TFG):c.722-8G>T	TFG	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 387101	NM_006070.6(TFG):c.765A>C (p.Ala255=)	TFG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1019766	NM_006070.6(TFG):c.820+3G>A	TFG	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1198926	NM_006070.6(TFG):c.820+59T>C	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670232	NM_006070.6(TFG):c.820+209T>C	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677477	NM_006070.6(TFG):c.820+234T>C	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257222	NM_006070.6(TFG):c.820+252_820+253del	TFG	Deletion (intron variant)	not provided	GBenign
Select item 1232365	NM_006070.6(TFG):c.821-285A>G	TFG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678901	NM_006070.6(TFG):c.821-148T>C	TFG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 440333	NM_006070.6(TFG):c.846T>C (p.Pro282=)	TFG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 37089	NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	TFG (P285L +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 534741	NM_006070.6(TFG):c.944C>T (p.Pro315Leu)	TFG (P315L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +3 more	GUncertain significance
Select item 379906	NM_006070.6(TFG):c.945G>A (p.Pro315=)	TFG	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 946901	NM_006070.6(TFG):c.976G>T (p.Ala326Ser)	TFG (A326S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 517710	NM_006070.6(TFG):c.981A>G (p.Gln327=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +3 more	GLikely benign
Select item 466412	NM_006070.6(TFG):c.988A>G (p.Thr330Ala)	TFG (T330A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +3 more	GConflicting classifications of pathogenicity
Select item 234835	NM_006070.6(TFG):c.1006C>T (p.Pro336Ser)	TFG (P336S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 706581	NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)	TFG (A346T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 245772	NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)	TFG (P354A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 466404	NM_006070.6(TFG):c.1090A>C (p.Thr364Pro)	TFG (T364P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +2 more	GBenign
Select item 1796534	NM_006070.6(TFG):c.1117C>T (p.Pro373Ser)	TFG (P369S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313772	NM_006070.6(TFG):c.1147C>T (p.Arg383Cys)	TFG (R379C +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 246195	NM_006070.6(TFG):c.1169A>G (p.Gln390Arg)	TFG (Q390R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 941860	NM_006070.6(TFG):c.1172G>T (p.Gly391Val)	TFG (G391V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1233167	NM_006070.6(TFG):c.*38A>G	TFG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1197530	NM_006070.6(TFG):c.221_222del	TFG	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1190847	NM_006070.6(TFG):c.*272T>G	TFG	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1274476	NM_006070.6(TFG):c.*298G>A	TFG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1264779	NM_006070.6(TFG):c.*301A>T	TFG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 100