TFAM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 150914	GRCh38/hg38 10q21.1(chr10:58148435-58483261)x1	CISD1, IPMK +8 more	Copy number loss	See cases	GUncertain significance
Select item 1317763	NC_000010.11:g.58384847G>A	TFAM	Single nucleotide variant	not provided	GLikely benign
Select item 684175	NM_003201.2(TFAM):c.-424C>T	TFAM	Single nucleotide variant	not provided	GBenign
Select item 1317995	NC_000010.11:g.58385197C>T	TFAM	Single nucleotide variant	not provided	GLikely benign
Select item 669576	NM_003201.2(TFAM):c.-310C>A	TFAM	Single nucleotide variant	not provided	GBenign
Select item 673276	NM_003201.2(TFAM):c.-256T>G	TFAM	Single nucleotide variant	not provided	GBenign
Select item 684177	NM_003201.2(TFAM):c.-229A>G	TFAM	Single nucleotide variant	not provided	GBenign
Select item 2136865	NM_003201.3(TFAM):c.-91C>A	TFAM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1318234	NM_003201.3(TFAM):c.-50A>G	TFAM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2888979	NM_003201.3(TFAM):c.10C>G (p.Leu4Val)	TFAM (L4V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2056594	NM_003201.3(TFAM):c.28G>T (p.Val10Leu)	TFAM (V10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 670994	NM_003201.3(TFAM):c.35G>C (p.Ser12Thr)	TFAM (S12T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2072138	NM_003201.3(TFAM):c.49T>C (p.Ser17Pro)	TFAM (S17P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927330	NM_003201.3(TFAM):c.101+13G>C	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684179	NM_003201.3(TFAM):c.101+189G>C	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318157	NM_003201.3(TFAM):c.102-206A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243323	NM_003201.3(TFAM):c.102-185T>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316730	NM_003201.3(TFAM):c.102-165C>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247413	NM_003201.3(TFAM):c.102-134_102-133del	TFAM	Microsatellite (intron variant)	not provided	GBenign
Select item 1537200	NM_003201.3(TFAM):c.102-7T>A	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3053130	NM_003201.3(TFAM):c.102-6A>G	TFAM	Single nucleotide variant (intron variant)	TFAM-related disorder	GLikely benign
Select item 3176439	NM_003201.3(TFAM):c.139G>A (p.Ala47Thr)	TFAM (A47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 669577	NM_003201.3(TFAM):c.183T>C (p.Ser61=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3009977	NM_003201.3(TFAM):c.185A>C (p.Lys62Thr)	TFAM (K62T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3034666	NM_003201.3(TFAM):c.186A>G (p.Lys62=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	TFAM-related disorder	GLikely benign
Select item 1317894	NM_003201.3(TFAM):c.221-174A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684187	NM_003201.3(TFAM):c.221-166G>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672912	NM_003201.3(TFAM):c.221-16T>C	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2900513	NM_003201.3(TFAM):c.221-3T>C	TFAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2313349	NM_003201.3(TFAM):c.278A>G (p.Asp93Gly)	TFAM (D93G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2715682	NM_003201.3(TFAM):c.280T>G (p.Ser94Ala)	TFAM (S94A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043897	NM_003201.3(TFAM):c.291+9A>G	TFAM	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 1317997	NM_003201.3(TFAM):c.291+85C>A	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980822	NM_003201.3(TFAM):c.292-15G>C	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223044	NM_003201.3(TFAM):c.292-9dup	TFAM	Duplication (intron variant)	not provided	GBenign
Select item 2052996	NM_003201.3(TFAM):c.298C>G (p.Gln100Glu)	TFAM (Q100E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437048	NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)	TFAM (A105T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GUncertain significance
Select item 1316810	NM_003201.3(TFAM):c.315G>A (p.Ala105=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2473460	NM_003201.3(TFAM):c.322C>G (p.Gln108Glu)	TFAM (Q108E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2538372	NM_003201.3(TFAM):c.326T>C (p.Val109Ala)	TFAM (V109A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2811529	NM_003201.3(TFAM):c.376A>G (p.Ile126Val)	TFAM (I126V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2905013	NM_003201.3(TFAM):c.410A>G (p.His137Arg)	TFAM (H137R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2385274	NM_003201.3(TFAM):c.429G>A (p.Met143Ile)	TFAM (M143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468768	NM_003201.3(TFAM):c.431C>A (p.Thr144Lys)	TFAM (T144K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2585248	NM_003201.3(TFAM):c.441del (p.Glu148fs)	TFAM (E148fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GLikely pathogenic
Select item 2414115	NM_003201.3(TFAM):c.432A>C (p.Thr144=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845688	NM_003201.3(TFAM):c.441+16A>C	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684189	NM_003201.3(TFAM):c.441+113A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684190	NM_003201.3(TFAM):c.441+172A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232792	NM_003201.3(TFAM):c.441+214A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317583	NM_003201.3(TFAM):c.442-282G>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316732	NM_003201.3(TFAM):c.442-234G>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264574	NM_003201.3(TFAM):c.442-80A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2856204	NM_003201.3(TFAM):c.475C>T (p.Arg159Cys)	TFAM (R159C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1925604	NM_003201.3(TFAM):c.490G>A (p.Val164Ile)	TFAM (V164I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 748521	NM_003201.3(TFAM):c.504A>G (p.Glu168=)	TFAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2787830	NM_003201.3(TFAM):c.505A>C (p.Arg169=)	TFAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 221285	NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)	TFAM (P178L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GLikely pathogenic
Select item 1320584	NM_003201.3(TFAM):c.534G>A (p.Pro178=)	TFAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1316729	NM_003201.3(TFAM):c.538-288A>C	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904965	NM_003201.3(TFAM):c.538-3C>T	TFAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1599758	NM_003201.3(TFAM):c.594+11C>T	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669578	NM_003201.3(TFAM):c.594+12G>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318277	NM_003201.3(TFAM):c.594+33A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701134	NM_003201.3(TFAM):c.594+39G>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318257	NM_003201.3(TFAM):c.595-29A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956481	NM_003201.3(TFAM):c.595-11C>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3325587	NM_003201.3(TFAM):c.613A>G (p.Lys205Glu)	TFAM (K205E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243900	NM_003201.3(TFAM):c.622G>A (p.Glu208Lys)	TFAM (E176K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3325588	NM_003201.3(TFAM):c.625A>T (p.Thr209Ser)	TFAM (T177S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046845	NM_003201.3(TFAM):c.633T>C (p.Tyr211=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	TFAM-related disorder	GLikely benign
Select item 2863185	NM_003201.3(TFAM):c.673G>A (p.Val225Ile)	TFAM (V193I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252431	NM_003201.3(TFAM):c.692T>C (p.Leu231Pro)	TFAM (L199P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 869199	NM_003201.3(TFAM):c.694C>T (p.Arg232Cys)	TFAM (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 2218299	NM_003201.3(TFAM):c.697C>T (p.Arg233Cys)	TFAM (R201C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2465309	NM_003201.3(TFAM):c.698G>A (p.Arg233His)	TFAM (R233H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2917982	NM_003201.3(TFAM):c.715C>T (p.Arg239Ter)	TFAM (R207* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 709696	NM_003201.3(TFAM):c.723T>C (p.Tyr241=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3023186	NM_003201.3(TFAM):c.736T>G (p.Cys246Gly)	TFAM (C246G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1245159	NM_003201.3(TFAM):c.*286G>T	TFAM	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 980920	GRCh37/hg19 10q21.1(chr10:60151412-60583505)x3	BICC1, TFAM	Copy number gain	not provided	GLikely benign
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 688024	GRCh37/hg19 10q21.1-21.2(chr10:59199424-62981900)x3	ANK3, BICC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic

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