ClinVar for MedGen (Select 355842) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679367	NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)	TSFM	Deletion (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679366	NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)	TSFM (K47*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679365	NM_005726.6(TSFM):c.796dup (p.Leu266fs)	TSFM (L266fs +1 more)	Duplication (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679364	NM_005726.6(TSFM):c.545_548del (p.Leu182fs)	TSFM (L182fs +1 more)	Deletion (frameshift variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
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 2679361	NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)	TSFM (G210fs +1 more)	Insertion (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
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 2679359	NM_005726.6(TSFM):c.231+1G>A	TSFM	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2679358	NM_005726.6(TSFM):c.223del (p.Leu75fs)	TSFM (L75fs)	Deletion (frameshift variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679357	NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)	TSFM (W204* +1 more)	Single nucleotide variant (nonsense +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
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 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 2679354	NM_005726.6(TSFM):c.382del (p.Val128fs)	TSFM (V128fs)	Deletion (frameshift variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679353	NM_005726.6(TSFM):c.808_809del (p.Ser270fs)	TSFM (S270fs +1 more)	Deletion (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679352	NM_005726.6(TSFM):c.484-1G>A	TSFM	Single nucleotide variant (splice acceptor variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2679351	NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)	TSFM (L266fs +1 more)	Indel (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2584404	NM_005726.6(TSFM):c.243G>A (p.Trp81Ter)	TSFM (W81*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 2503795	NM_005726.6(TSFM):c.192C>A (p.Cys64Ter)	TSFM (C64*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
Select item 2445917	NM_005726.6(TSFM):c.551del (p.Asp184fs)	TSFM (D184fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2437388	NM_005726.6(TSFM):c.321T>G (p.Ile107Met)	TSFM (I107M)	Single nucleotide variant (missense variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 2137384	NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)	TSFM (C240S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2032839	NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)	TSFM (K84*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2022300	NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)	TSFM (Q87*)	Single nucleotide variant (nonsense)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1918350	NM_005726.6(TSFM):c.600dup (p.Arg201fs)	TSFM (R222fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1806099	NM_005726.6(TSFM):c.774G>C (p.Gln258His)	TSFM (Q258H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
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 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 1395995	NM_005726.6(TSFM):c.571+1G>C	TSFM	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323719	NM_005726.6(TSFM):c.748G>T (p.Glu250Ter)	TSFM (E250* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GPathogenic
Select item 1217328	NM_005726.6(TSFM):c.830del (p.Gly277fs)	TSFM (G277fs +1 more)	Deletion (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 1215833	NM_005726.6(TSFM):c.269G>A (p.Gly90Asp)	TSFM (G90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1180581	NM_006576.4(AVIL):c.1963-397C>T	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 1180580	NM_006576.4(AVIL):c.1963-316C>T	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 1132473	NM_005726.6(TSFM):c.231+1GT[6]	TSFM	Microsatellite (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1126237	NM_005726.6(TSFM):c.10C>T (p.Leu4=)	TSFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076656	NM_005726.6(TSFM):c.403C>T (p.Gln135Ter)	TSFM (Q135*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1070639	NM_005726.6(TSFM):c.85C>T (p.Gln29Ter)	TSFM (Q29*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1033357	NM_005726.6(TSFM):c.601C>T (p.Arg201Ter)	TSFM (R201* +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
Select item 883371	NM_006576.4(AVIL):c.*433A>C	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 883370	NM_005726.6(TSFM):c.*656A>G	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 883369	NM_005726.6(TSFM):c.*558C>T	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 883368	NM_005726.6(TSFM):c.*554A>G	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 883367	NM_005726.6(TSFM):c.*491G>A	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 883316	NM_005726.6(TSFM):c.322G>A (p.Gly108Arg)	TSFM (G108R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883315	NM_005726.6(TSFM):c.140A>G (p.Lys47Arg)	TSFM (K47R)	Single nucleotide variant (missense variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GUncertain significance
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 882583	NM_005726.6(TSFM):c.*381C>T	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 882582	NM_005726.6(TSFM):c.*291T>C	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 882581	NM_005726.6(TSFM):c.*176T>C	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 882315	NM_005726.6(TSFM):c.*98A>G	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
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)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GUncertain significance
Select item 854965	NM_005726.6(TSFM):c.399del (p.Lys133fs)	TSFM (K133fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 852530	NM_005726.6(TSFM):c.908_909del (p.Gln303fs)	TSFM (Q324fs +1 more)	Deletion (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GLikely pathogenic
Select item 845374	NM_005726.6(TSFM):c.557T>A (p.Leu186Ter)	TSFM (L207* +1 more)	Single nucleotide variant (nonsense +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GPathogenic/Likely pathogenic
Select item 806907	NM_005726.6(TSFM):c.161G>A (p.Arg54Gln)	TSFM (R54Q)	Single nucleotide variant (missense variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GUncertain significance
Select item 740261	NM_005726.6(TSFM):c.726G>A (p.Thr242=)	TSFM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 725434	NM_005726.6(TSFM):c.885C>T (p.Thr295=)	TSFM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 706660	NM_005726.6(TSFM):c.484-10G>A	TSFM	Single nucleotide variant (intron 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 703844	NM_005726.6(TSFM):c.5C>T (p.Ser2Leu)	TSFM (S2L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424804	NM_001172696.1(TSFM):c.[355G>C];[997C>T]			Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
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)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GUncertain significance
Select item 310030	NM_006576.4(AVIL):c.*302C>G	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GBenign
Select item 310029	NM_006576.4(AVIL):c.*341G>C	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GBenign
Select item 310028	NM_006576.4(AVIL):c.*404T>C	AVIL, TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310027	NM_005726.6(TSFM):c.*561A>C	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310026	NM_005726.6(TSFM):c.*461T>C	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310025	NM_005726.6(TSFM):c.*412C>T	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310024	NM_005726.6(TSFM):c.*262T>A	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310023	NM_005726.6(TSFM):c.*210G>A	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310022	NM_005726.6(TSFM):c.*182T>G	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310021	NM_005726.6(TSFM):c.*20C>T	TSFM	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310020	NM_005726.6(TSFM):c.816C>T (p.Asp272=)	TSFM	Single nucleotide variant (synonymous variant +2 more)	TSFM-related condition +2 more	GConflicting classifications of pathogenicity
Select item 310019	NM_005726.6(TSFM):c.814G>C (p.Asp272His)	TSFM (D293H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 310018	NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)	TSFM (R275C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	TSFM-related condition +2 more	GConflicting classifications of pathogenicity
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 310016	NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)	TSFM (G201A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310015	NM_005726.6(TSFM):c.520G>T (p.Ala174Ser)	TSFM (A174S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 310014	NM_005726.6(TSFM):c.484-11C>T	TSFM	Single nucleotide variant (intron variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GConflicting classifications of pathogenicity
Select item 310013	NM_005726.6(TSFM):c.408G>A (p.Leu136=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310012	NM_005726.6(TSFM):c.375A>G (p.Thr125=)	TSFM	Single nucleotide variant (synonymous variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310011	NM_005726.6(TSFM):c.361-14A>G	TSFM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310010	NM_005726.6(TSFM):c.271T>G (p.Trp91Gly)	TSFM (W91G)	Single nucleotide variant (missense variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GLikely benign
Select item 310008	NM_005726.6(TSFM):c.232-8A>G	TSFM	Single nucleotide variant (intron variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GUncertain significance
Select item 310007	NM_005726.6(TSFM):c.69T>A (p.Leu23=)	TSFM	Single nucleotide variant (synonymous variant)	not provided +3 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 235467	NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)	TSFM (L287I +1 more)	Single nucleotide variant (missense variant +2 more)	TSFM-related condition +2 more	GBenign/Likely benign
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 155719	NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	TSFM (C315Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more	GLikely pathogenic
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 137764	NM_005726.6(TSFM):c.24C>T (p.Arg8=)	TSFM	Single nucleotide variant (synonymous variant)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GConflicting classifications of pathogenicity
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 137762	NM_005726.6(TSFM):c.232-19T>G	TSFM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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)	not provided +3 more	GBenign/Likely benign
Select item 5379	NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	TSFM (R333W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more	GPathogenic

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Items: 97