C1864840[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 310015	NM_005726.6(TSFM):c.520G>T (p.Ala174Ser)	TSFM (A174S +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 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 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 310017	NM_005726.6(TSFM):c.688G>T (p.Val230Leu)	TSFM (V251L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +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)	not provided +3 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

ClinVar

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Items: 44