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

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1054786	NM_006070.6(TFG):c.34A>G (p.Ile12Val)	TFG (I12V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +2 more	GUncertain significance
Select item 1035040	NM_006070.6(TFG):c.61A>T (p.Ile21Phe)	TFG (I21F)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 579063	NM_006070.6(TFG):c.68G>A (p.Arg23Gln)	TFG (R23Q)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	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 952320	NM_006070.6(TFG):c.196A>G (p.Ile66Val)	TFG (I66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1786863	NM_006070.6(TFG):c.215C>G (p.Ser72Cys)	TFG (S72C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 466407	NM_006070.6(TFG):c.225C>G (p.Ser75=)	TFG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 648724	NM_006070.6(TFG):c.290T>A (p.Leu97His)	TFG (L97H)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 684501	NM_006070.6(TFG):c.302A>G (p.Gln101Arg)	TFG (Q101R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1075540	NM_006070.6(TFG):c.317G>A (p.Arg106His)	TFG (R106H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +4 more	GConflicting classifications of pathogenicity
Select item 1733307	NM_006070.6(TFG):c.361G>A (p.Asp121Asn)	TFG (D121N)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
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 3176542	NM_006070.6(TFG):c.481A>G (p.Met161Val)	TFG (M161V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1747585	NM_006070.6(TFG):c.544A>G (p.Met182Val)	TFG (M182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1510713	NM_006070.6(TFG):c.556G>A (p.Gly186Ser)	TFG (G186S)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 1749780	NM_006070.6(TFG):c.580+4A>C	TFG	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 466410	NM_006070.6(TFG):c.594T>G (p.Ala198=)	TFG	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1753423	NM_006070.6(TFG):c.641C>T (p.Ser214Phe)	TFG (S214F)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 378721	NM_006070.6(TFG):c.663C>A (p.Gly221=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +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 534748	NM_006070.6(TFG):c.672A>C (p.Pro224=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GLikely benign
Select item 1755871	NM_006070.6(TFG):c.686A>G (p.Tyr229Cys)	TFG (Y229C)	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 1039628	NM_006070.6(TFG):c.738G>C (p.Gln246His)	TFG (Q242H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1498398	NM_006070.6(TFG):c.773C>T (p.Pro258Leu)	TFG (P254L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +2 more	GUncertain significance
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 1764463	NM_006070.6(TFG):c.872A>G (p.Tyr291Cys)	TFG (Y291C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575628	NM_006070.6(TFG):c.882A>C (p.Gln294His)	TFG (Q294H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 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 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 1972499	NM_006070.6(TFG):c.1113G>A (p.Met371Ile)	TFG (M367I +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
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 534742	NM_006070.6(TFG):c.1123C>G (p.Pro375Ala)	TFG (P375A +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 862024	NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)	TFG (R381C +1 more)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GUncertain significance
Select item 1741237	NM_006070.6(TFG):c.1178C>T (p.Thr393Ile)	TFG (T389I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 44