10342[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
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 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 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 156877	CM000665.1:g.100351696_100437892dup	ADGRG7, LOC129937149 +2 more	Duplication	Gestational diabetes mellitus uncontrolled +1 more	Gnot provided
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 466401	NC_000003.11:g.(?_100432510)_(100438922_?)dup	TFG	Duplication	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 1111154	NM_006070.6(TFG):c.6C>T (p.Asn2=)	TFG	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1009525	NM_006070.6(TFG):c.9_10delinsGA (p.Gln4Lys)	TFG (Q4K)	Indel (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 1610067	NM_006070.6(TFG):c.24T>C (p.Ser8=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
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 1425621	NM_006070.6(TFG):c.25G>A (p.Gly9Arg)	TFG (G9R)	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 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 624218	NM_006070.6(TFG):c.37A>G (p.Ile13Val)	TFG (I13V)	Single nucleotide variant (missense variant)	not provided +2 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 765652	NM_006070.6(TFG):c.57G>A (p.Glu19=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 2049955	NM_006070.6(TFG):c.61A>G (p.Ile21Val)	TFG (I21V)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 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 1452866	NM_006070.6(TFG):c.64C>T (p.Arg22Trp)	TFG (R22W)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GPathogenic
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 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 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 941987	NM_006070.6(TFG):c.97T>C (p.Tyr33His)	TFG (Y33H)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 581697	NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)	TFG (Y33C)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +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 2053438	NM_006070.6(TFG):c.99T>A (p.Tyr33Ter)	TFG (Y33*)	Single nucleotide variant (nonsense)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 2011413	NM_006070.6(TFG):c.101A>T (p.Asp34Val)	TFG (D34V)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	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 2005764	NM_006070.6(TFG):c.133A>C (p.Arg45=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
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 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 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 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 1582056	NM_006070.6(TFG):c.171G>A (p.Lys57=)	TFG	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1991551	NM_006070.6(TFG):c.174T>C (p.Tyr58=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 1990667	NM_006070.6(TFG):c.175A>G (p.Lys59Glu)	TFG (K59E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 765528	NM_006070.6(TFG):c.177A>G (p.Lys59=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +2 more	GLikely benign
Select item 1897727	NM_006070.6(TFG):c.183A>C (p.Glu61Asp)	TFG (E61D)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
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 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 1600793	NM_006070.6(TFG):c.184+11T>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GBenign
Select item 1976218	NM_006070.6(TFG):c.184+13T>C	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
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 1328018	NM_006070.6(TFG):c.185-10dup	TFG	Duplication (intron variant)	not specified	GBenign
Select item 1225580	NM_006070.6(TFG):c.185-10del	TFG	Deletion (intron variant)	not provided	GBenign
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 466406	NM_006070.6(TFG):c.185-10T>C	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GBenign
Select item 466405	NM_006070.6(TFG):c.185-10T>A	TFG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 1650878	NM_006070.6(TFG):c.185-7del	TFG	Deletion (intron variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
Select item 706163	NM_006070.6(TFG):c.185-9A>T	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 1379216	NM_006070.6(TFG):c.194T>G (p.Leu65Arg)	TFG (L65R)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	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 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 1004051	NM_006070.6(TFG):c.198A>G (p.Ile66Met)	TFG (I66M)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
Select item 1531432	NM_006070.6(TFG):c.213T>C (p.Ser71=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +2 more	GLikely benign
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 1621890	NM_006070.6(TFG):c.219C>T (p.Asp73=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 more	GLikely benign
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 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 1596375	NM_006070.6(TFG):c.231A>G (p.Ala77=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 1110815	NM_006070.6(TFG):c.234T>A (p.Ile78=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
Select item 658735	NM_006070.6(TFG):c.237G>T (p.Gln79His)	TFG (Q79H)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +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 964397	NM_006070.6(TFG):c.256C>G (p.Leu86Val)	TFG (L86V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 57 +1 more	GUncertain significance
Select item 1973601	NM_006070.6(TFG):c.258G>A (p.Leu86=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 57 +1 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 1334805	NM_006070.6(TFG):c.261ATT[1] (p.Leu88del)	TFG (L88del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 1131593	NM_006070.6(TFG):c.261A>G (p.Thr87=)	TFG	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign
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 851188	NM_006070.6(TFG):c.268G>A (p.Val90Ile)	TFG (V90I)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GUncertain significance
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 1131719	NM_006070.6(TFG):c.268+8G>A	TFG	Single nucleotide variant (intron variant)	Hereditary motor and sensory neuropathy, Okinawa type +1 more	GLikely benign

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