C1857682[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318732	NM_003321.5(TUFM):c.*561A>T	TUFM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318733	NM_003321.5(TUFM):c.*517G>C	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318734	NM_003321.5(TUFM):c.*445G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 886766	NM_003321.5(TUFM):c.*433T>C	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318735	NM_003321.5(TUFM):c.*398G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318736	NM_003321.5(TUFM):c.*370T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318737	NM_003321.5(TUFM):c.*349G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318738	NM_003321.5(TUFM):c.*300T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4 +1 more	GBenign
Select item 886767	NM_003321.5(TUFM):c.*270C>T	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 888045	NM_003321.5(TUFM):c.*229G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318739	NM_003321.5(TUFM):c.*149G>C	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318740	NM_003321.5(TUFM):c.*110A>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 888046	NM_003321.5(TUFM):c.*60T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318741	NM_003321.5(TUFM):c.*37G>A	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318742	NM_003321.5(TUFM):c.*24C>T	TUFM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 215313	NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)	TUFM (N431S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 215309	NM_003321.5(TUFM):c.1120G>A (p.Val374Met)	TUFM (V374M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318744	NM_003321.5(TUFM):c.975C>T (p.Leu325=)	TUFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318745	NM_003321.5(TUFM):c.923-9C>A	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 516840	NM_003321.5(TUFM):c.922+8A>G	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +1 more	GConflicting classifications of pathogenicity
Select item 318746	NM_003321.5(TUFM):c.894T>C (p.His298=)	TUFM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884916	NM_003321.5(TUFM):c.825C>G (p.Gly275=)	TUFM	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318747	NM_003321.5(TUFM):c.817+13T>C	TUFM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 884917	NM_003321.5(TUFM):c.810C>T (p.Ser270=)	TUFM	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 884918	NM_003321.5(TUFM):c.800C>T (p.Ala267Val)	TUFM (A267V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318748	NM_003321.5(TUFM):c.760G>A (p.Ala254Thr)	TUFM (A254T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318749	NM_003321.5(TUFM):c.759C>T (p.Pro253=)	TUFM	Single nucleotide variant (synonymous variant)	TUFM-related condition +2 more	GConflicting classifications of pathogenicity
Select item 318750	NM_003321.5(TUFM):c.684+8C>T	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +2 more	GConflicting classifications of pathogenicity
Select item 137860	NM_003321.5(TUFM):c.684+6C>T	TUFM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 215311	NM_003321.5(TUFM):c.622G>A (p.Glu208Lys)	TUFM (E208K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 885837	NM_003321.5(TUFM):c.619A>C (p.Thr207Pro)	TUFM (T207P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 885838	NM_003321.5(TUFM):c.595G>C (p.Glu199Gln)	TUFM (E199Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 885839	NM_003321.5(TUFM):c.581T>C (p.Met194Thr)	TUFM (M194T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318751	NM_003321.5(TUFM):c.568C>T (p.Gln190Ter)	TUFM (Q190*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 379527	NM_003321.5(TUFM):c.558T>C (p.Ala186=)	TUFM	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137859	NM_003321.5(TUFM):c.520-8A>T	TUFM	Single nucleotide variant (intron variant)	TUFM-related condition +3 more	GBenign/Likely benign
Select item 318752	NM_003321.5(TUFM):c.520-13C>G	TUFM	Single nucleotide variant (intron variant)	TUFM-related condition +2 more	GBenign/Likely benign
Select item 318753	NM_003321.5(TUFM):c.519+15G>A	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +1 more	GConflicting classifications of pathogenicity
Select item 886834	NM_003321.5(TUFM):c.519+14G>C	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 886835	NM_003321.5(TUFM):c.470A>G (p.Asn157Ser)	TUFM (N157S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 318754	NM_003321.5(TUFM):c.427G>A (p.Gly143Ser)	TUFM (G143S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4 +2 more	GConflicting classifications of pathogenicity
Select item 318755	NM_003321.5(TUFM):c.248-13T>G	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 137862	NM_003321.5(TUFM):c.198C>T (p.Ile66=)	TUFM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 888109	NM_003321.5(TUFM):c.166C>G (p.Arg56Gly)	TUFM (R56G)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 215318	NM_003321.5(TUFM):c.35C>G (p.Ala12Gly)	LOC130058735, TUFM (A12G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 888110	NM_003321.5(TUFM):c.12G>T (p.Met4Ile)	LOC130058735, TUFM (M4I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 425103	NM_003321.5(TUFM):c.6C>T (p.Thr2=)	LOC130058735, TUFM	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 4 +2 more	GConflicting classifications of pathogenicity
Select item 318756	NM_003321.5(TUFM):c.1A>G (p.Met1Val)	LOC130058735, TUFM (M1V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318757	NM_003321.5(TUFM):c.-37C>T	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318758	NM_003321.5(TUFM):c.-44G>T	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 318760	NM_003321.5(TUFM):c.-55T>C	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 884984	NM_003321.5(TUFM):c.-61C>T	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance

ClinVar

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Items: 52