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

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GConflicting classifications of pathogenicity
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 137764	NM_005726.6(TSFM):c.24C>T (p.Arg8=)	TSFM	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 423708	NM_005726.6(TSFM):c.34_37dup (p.Ala13fs)	TSFM (A13fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 676766	NM_005726.6(TSFM):c.58-96A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327817	NM_005726.6(TSFM):c.59C>T (p.Ala20Val)	TSFM (A20V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310007	NM_005726.6(TSFM):c.69T>A (p.Leu23=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 378795	NM_005726.6(TSFM):c.117T>A (p.Arg39=)	TSFM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1241908	NM_005726.6(TSFM):c.231+25C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679463	NM_005726.6(TSFM):c.231+226G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210535	NM_005726.6(TSFM):c.232-260C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679385	NM_005726.6(TSFM):c.232-210G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137762	NM_005726.6(TSFM):c.232-19T>G	TSFM	Single nucleotide variant (intron variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GBenign/Likely benign
Select item 1215833	NM_005726.6(TSFM):c.269G>A (p.Gly90Asp)	TSFM (G90D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420165	NM_005726.6(TSFM):c.284C>T (p.Ala95Val)	TSFM (A95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506325	NM_005726.6(TSFM):c.303G>A (p.Lys101=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137763	NM_005726.6(TSFM):c.361-12T>G	TSFM	Single nucleotide variant (intron variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GConflicting classifications of pathogenicity
Select item 310013	NM_005726.6(TSFM):c.408G>A (p.Leu136=)	TSFM	Single nucleotide variant (synonymous variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GConflicting classifications of pathogenicity
Select item 516345	NM_005726.6(TSFM):c.484-1033G>A	TSFM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1181604	NM_005726.6(TSFM):c.484-999A>T	TSFM (N169I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1244716	NM_005726.6(TSFM):c.484-996T>C	TSFM (L170P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1290523	NM_005726.6(TSFM):c.484-977A>G	TSFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1290522	NM_005726.6(TSFM):c.484-963T>C	TSFM (L181P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 137765	NM_005726.6(TSFM):c.484-947A>G	TSFM	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 507150	NM_005726.6(TSFM):c.484-939C>T	TSFM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1207160	NM_005726.6(TSFM):c.484-295T>C	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678659	NM_005726.6(TSFM):c.484-236G>A	TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678633	NM_005726.6(TSFM):c.484-175C>T	TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678634	NM_005726.6(TSFM):c.484-174A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668504	NM_005726.6(TSFM):c.484-6A>G	TSFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2679356	NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)	TSFM (G162S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310016	NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)	TSFM (G201A +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1511482	NM_005726.6(TSFM):c.568A>G (p.Ile190Val)	TSFM (I211V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 389053	NM_005726.6(TSFM):c.571+11G>T	TSFM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2045642	NM_005726.6(TSFM):c.604G>C (p.Ala202Pro)	TSFM (A202P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 418526	NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)	TSFM (S236F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 387069	NM_005726.6(TSFM):c.654C>T (p.His218=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 450022	NM_005726.6(TSFM):c.679C>G (p.His227Asp)	TSFM (H248D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 310017	NM_005726.6(TSFM):c.688G>T (p.Val230Leu)	TSFM (V251L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GUncertain significance
Select item 137761	NM_005726.6(TSFM):c.754G>A (p.Val252Ile)	TSFM (V273I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GBenign/Likely benign
Select item 310018	NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)	TSFM (R275C +1 more)	Single nucleotide variant (missense variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882314	NM_005726.6(TSFM):c.787A>T (p.Met263Leu)	TSFM (M284L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 235467	NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)	TSFM (L287I +1 more)	Single nucleotide variant (missense variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GBenign/Likely benign
Select item 559172	NM_005726.6(TSFM):c.797T>A (p.Leu266His)	TSFM (L287H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GConflicting classifications of pathogenicity
Select item 310019	NM_005726.6(TSFM):c.814G>C (p.Asp272His)	TSFM (D293H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GUncertain significance
Select item 155718	NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	TSFM (Q286* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2044119	NM_005726.6(TSFM):c.917C>T (p.Ser306Leu)	TSFM (S327L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1305295	NM_005726.6(TSFM):c.978G>A (p.Ter326=)	TSFM	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1225336	NM_006576.4(AVIL):c.2346+130A>G	TSFM, AVIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231318	NM_006576.4(AVIL):c.2151+170G>A	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226718	NM_006576.4(AVIL):c.2151+142A>G	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202459	NM_001172697.2(TSFM):c.572-220A>G	AVIL, TSFM (I659T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1180580	NM_001172697.2(TSFM):c.*33G>A	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GBenign
Select item 1180581	NM_001172697.2(TSFM):c.*114G>A	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GBenign
Select item 1250094	NC_000012.12:g.57803019A>G	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 58