Related gene-specific medical variations for Gene (Select 10102) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244363	NC_000012.11:g.(?_58176585)_(58180965_?)del	TSFM	Deletion	not provided	GPathogenic
Select item 3244362	NC_000012.11:g.(?_58189940)_(58190366_?)del	TSFM	Deletion	not provided	GPathogenic
Select item 3240662	NM_005726.6(TSFM):c.559_560delinsA (p.Ala187fs)	TSFM (A187fs +1 more)	Indel (frameshift variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	GLikely pathogenic
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 3234599	NM_006576.4(AVIL):c.2413C>T (p.Pro805Ser)	AVIL, TSFM (P805S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3132394	NM_006576.4(AVIL):c.2322G>C (p.Glu774Asp)	AVIL, TSFM (E774D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132393	NM_006576.4(AVIL):c.2188G>C (p.Gly730Arg)	AVIL, TSFM (G730R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132392	NM_006576.4(AVIL):c.2011G>A (p.Ala671Thr)	AVIL, TSFM (A671T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132391	NM_006576.4(AVIL):c.2009G>C (p.Ser670Thr)	AVIL, TSFM (S670T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054986	NM_006576.4(AVIL):c.2239C>T (p.Leu747Phe)	AVIL, TSFM (L747F)	Single nucleotide variant (missense variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3054530	NM_006576.4(AVIL):c.1999G>A (p.Glu667Lys)	AVIL, TSFM (E667K)	Single nucleotide variant (missense variant +1 more)	AVIL-related disorder	GUncertain significance
Select item 3050431	NM_006576.4(AVIL):c.2037G>A (p.Leu679=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3049077	NM_006576.4(AVIL):c.2292G>A (p.Leu764=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3036171	NM_006576.4(AVIL):c.2412G>A (p.Leu804=)	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	AVIL-related disorder	GLikely benign
Select item 3034124	NM_006576.4(AVIL):c.1963-226T>A	AVIL, TSFM	Single nucleotide variant (synonymous variant +1 more)	TSFM-related disorder	GLikely benign
Select item 3028934	NM_006576.4(AVIL):c.1963-7_1963-6insTG	AVIL, TSFM	Insertion (intron variant)	AVIL-related disorder	GLikely benign
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 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 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 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 2622868	NM_006576.4(AVIL):c.2135A>G (p.Asp712Gly)	AVIL, TSFM (D712G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485465	NM_006576.4(AVIL):c.2282T>C (p.Ile761Thr)	AVIL, TSFM (I761T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2439445	NM_006576.4(AVIL):c.2250T>A (p.Asn750Lys)	AVIL, TSFM (N750K)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 21	GUncertain significance
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 2392523	NM_006576.4(AVIL):c.2195C>G (p.Ala732Gly)	AVIL, TSFM (A732G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386846	NM_006576.4(AVIL):c.2331C>A (p.Asn777Lys)	AVIL, TSFM (N777K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386123	NM_006576.4(AVIL):c.2009G>T (p.Ser670Ile)	AVIL, TSFM (S670I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 1225336	NM_006576.4(AVIL):c.2346+130A>G	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202459	NM_006576.4(AVIL):c.1976T>C (p.Ile659Thr)	AVIL, TSFM (I659T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 734180	NM_006576.4(AVIL):c.2152-9T>C	AVIL, TSFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684651	NM_006576.4(AVIL):c.1964dup (p.Phe656fs)	AVIL, TSFM (F656fs)	Duplication (frameshift variant +1 more)	Nephrotic syndrome, type 21	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 242493	NM_001172696.1:c.355G>C	TSFM (V119L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 50