TSFM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 1292286	NC_000012.12:g.57782637C>T	TSFM	Single nucleotide variant	not provided	GBenign
Select item 381395	NM_005726.6(TSFM):c.-8C>A	TSFM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2061807	NM_005726.6(TSFM):c.1A>G (p.Met1Val)	TSFM (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940093	NM_005726.6(TSFM):c.1A>T (p.Met1Leu)	TSFM (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2162512	NM_005726.6(TSFM):c.11_22dup (p.Leu7_Arg8insLeuArgSerLeu)	TSFM	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1959263	NM_005726.6(TSFM):c.2T>C (p.Met1Thr)	TSFM (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 222856	NM_005726.6(TSFM):c.2T>G (p.Met1Arg)	TSFM (M1R)	Single nucleotide variant (missense variant +1 more)	Skeletal myopathy	GUncertain significance
Select item 1484444	NM_005726.6(TSFM):c.3G>A (p.Met1Ile)	TSFM (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2679363	NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)	TSFM (S2*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 703844	NM_005726.6(TSFM):c.5C>T (p.Ser2Leu)	TSFM (S2L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2802836	NM_005726.6(TSFM):c.6G>C (p.Ser2=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754650	NM_005726.6(TSFM):c.7C>T (p.Leu3=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000027	NM_005726.6(TSFM):c.9G>T (p.Leu3=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108144	NM_005726.6(TSFM):c.9G>A (p.Leu3=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126237	NM_005726.6(TSFM):c.10C>T (p.Leu4=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157310	NM_005726.6(TSFM):c.11T>C (p.Leu4Pro)	TSFM (L4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555751	NM_005726.6(TSFM):c.12G>A (p.Leu4=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 705419	NM_005726.6(TSFM):c.12G>T (p.Leu4=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672834	NM_005726.6(TSFM):c.13C>A (p.Arg5=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183605	NM_005726.6(TSFM):c.17C>T (p.Ser6Leu)	TSFM (S6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1953006	NM_005726.6(TSFM):c.17C>G (p.Ser6Trp)	TSFM (S6W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361252	NM_005726.6(TSFM):c.17C>A (p.Ser6Ter)	TSFM (S6*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1653120	NM_005726.6(TSFM):c.19C>T (p.Leu7=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860457	NM_005726.6(TSFM):c.21G>T (p.Leu7=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073038	NM_005726.6(TSFM):c.22C>T (p.Arg8Cys)	TSFM (R8C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1359716	NM_005726.6(TSFM):c.23G>C (p.Arg8Pro)	TSFM (R8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918851	NM_005726.6(TSFM):c.24C>G (p.Arg8=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137764	NM_005726.6(TSFM):c.24C>T (p.Arg8=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1451766	NM_005726.6(TSFM):c.27_28del (p.Phe10fs)	TSFM (F10fs)	Microsatellite (frameshift variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1103415	NM_005726.6(TSFM):c.27G>A (p.Val9=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091119	NM_005726.6(TSFM):c.27G>T (p.Val9=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310006	NM_005726.6(TSFM):c.30T>C (p.Phe10=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 762998	NM_005726.6(TSFM):c.31C>T (p.Leu11=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423708	NM_005726.6(TSFM):c.34_37dup (p.Ala13fs)	TSFM (A13fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1920353	NM_005726.6(TSFM):c.34G>T (p.Val12Phe)	TSFM (V12F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955570	NM_005726.6(TSFM):c.36C>T (p.Val12=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962893	NM_005726.6(TSFM):c.37G>T (p.Ala13Ser)	TSFM (A13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865814	NM_005726.6(TSFM):c.42G>T (p.Arg14=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860601	NM_005726.6(TSFM):c.42G>A (p.Arg14=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604709	NM_005726.6(TSFM):c.45C>T (p.Thr15=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 883314	NM_005726.6(TSFM):c.48G>A (p.Gly16=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1089842	NM_005726.6(TSFM):c.51C>T (p.Ser17=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009373	NM_005726.6(TSFM):c.53A>C (p.Tyr18Ser)	TSFM (Y18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989550	NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe)	TSFM (Y18F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1507022	NM_005726.6(TSFM):c.57+1G>A	TSFM	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 155720	NM_005726.6(TSFM):c.57+4A>G	TSFM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2765513	NM_005726.6(TSFM):c.57+6_57+7insCTC	TSFM	Insertion (intron variant)	not provided	GLikely benign
Select item 1133290	NM_005726.6(TSFM):c.57+7A>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108879	NM_005726.6(TSFM):c.57+7A>G	TSFM	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3010701	NM_005726.6(TSFM):c.57+8G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002620	NM_005726.6(TSFM):c.57+13G>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154764	NM_005726.6(TSFM):c.57+13G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2201706	NM_005726.6(TSFM):c.57+17C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782581	NM_005726.6(TSFM):c.57+20G>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676766	NM_005726.6(TSFM):c.58-96A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051663	NM_005726.6(TSFM):c.58-19C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965677	NM_005726.6(TSFM):c.58-15_58-12del	TSFM	Deletion (intron variant)	not provided	GLikely benign
Select item 1658436	NM_005726.6(TSFM):c.58-18C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139664	NM_005726.6(TSFM):c.58-14C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557673	NM_005726.6(TSFM):c.58-7_58-3del	TSFM	Deletion (intron variant)	not provided	GLikely benign
Select item 1156717	NM_005726.6(TSFM):c.58-8_58-7del	TSFM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2893135	NM_005726.6(TSFM):c.58-9C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528636	NM_005726.6(TSFM):c.58-8T>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559171	NM_005726.6(TSFM):c.58-7C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1103148	NM_005726.6(TSFM):c.58-5T>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836942	NM_005726.6(TSFM):c.58-4C>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828364	NM_005726.6(TSFM):c.58-4C>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667105	NM_005726.6(TSFM):c.58-4C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3240661	NM_005726.6(TSFM):c.58-2A>G	TSFM	Single nucleotide variant (splice acceptor variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 1354493	NC_000012.12:g.57783110del	TSFM	Deletion	not provided	GPathogenic
Select item 2163746	NM_005726.6(TSFM):c.58G>A (p.Ala20Thr)	TSFM (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327817	NM_005726.6(TSFM):c.59C>T (p.Ala20Val)	TSFM (A20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446021	NM_005726.6(TSFM):c.62G>C (p.Gly21Ala)	TSFM (G21A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973336	NM_005726.6(TSFM):c.69T>G (p.Leu23=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310007	NM_005726.6(TSFM):c.69T>A (p.Leu23=)	TSFM	Single nucleotide variant (synonymous variant)	TSFM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1359598	NM_005726.6(TSFM):c.71T>G (p.Leu24Arg)	TSFM (L24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926321	NM_005726.6(TSFM):c.73C>A (p.Arg25Ser)	TSFM (R25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2679355	NM_005726.6(TSFM):c.74del (p.Arg25fs)	TSFM (R25fs)	Deletion (frameshift variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 1488765	NM_005726.6(TSFM):c.74G>A (p.Arg25His)	TSFM (R25H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1074148	NM_005726.6(TSFM):c.76C>T (p.Gln26Ter)	TSFM (Q26*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2006288	NM_005726.6(TSFM):c.78G>A (p.Gln26=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760842	NM_005726.6(TSFM):c.84C>A (p.Pro28=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669753	NM_005726.6(TSFM):c.84C>T (p.Pro28=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070639	NM_005726.6(TSFM):c.85C>T (p.Gln29Ter)	TSFM (Q29*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1895979	NM_005726.6(TSFM):c.88C>T (p.Pro30Ser)	TSFM (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421901	NM_005726.6(TSFM):c.92G>C (p.Arg31Thr)	TSFM (R31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511699	NM_005726.6(TSFM):c.94C>G (p.His32Asp)	TSFM (H32D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424737	NM_005726.6(TSFM):c.97A>G (p.Thr33Ala)	TSFM (T33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845459	NM_005726.6(TSFM):c.99A>G (p.Thr33=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129291	NM_005726.6(TSFM):c.102T>C (p.Phe34=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151119	NM_005726.6(TSFM):c.105T>C (p.Tyr35=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2202442	NM_005726.6(TSFM):c.106G>T (p.Ala36Ser)	TSFM (A36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714504	NM_005726.6(TSFM):c.108T>G (p.Ala36=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1096609	NM_005726.6(TSFM):c.108T>C (p.Ala36=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2679360	NM_005726.6(TSFM):c.115dup (p.Arg39fs)	TSFM (R39fs)	Duplication (frameshift variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 1649729	NM_005726.6(TSFM):c.111G>T (p.Gly37=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187316	NM_005726.6(TSFM):c.112C>T (p.Pro38Ser)	TSFM (P38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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