"Ambry Genetics"[submitter] AND "DTNB"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539660	NM_021907.5(DTNB):c.1880G>A (p.Gly627Asp)	DTNB (G416D +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327675	NM_021907.5(DTNB):c.1837G>T (p.Ala613Ser)	DTNB (A436S +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307503	NM_021907.5(DTNB):c.1831G>A (p.Glu611Lys)	DTNB (E544K +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086081	NM_021907.5(DTNB):c.1780T>A (p.Ser594Thr)	DTNB (S282T +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389886	NM_021907.5(DTNB):c.1756A>C (p.Asn586His)	DTNB (N409H +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491816	NM_021907.5(DTNB):c.1739C>T (p.Thr580Met)	DTNB (T268M +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365325	NM_021907.5(DTNB):c.1724C>T (p.Ala575Val)	DTNB (A263V +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607013	NM_021907.5(DTNB):c.1714G>T (p.Val572Leu)	DTNB (V361L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086080	NM_021907.5(DTNB):c.1660G>A (p.Gly554Ser)	DTNB (G377S +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279122	NM_021907.5(DTNB):c.1616G>C (p.Gly539Ala)	DTNB (G502A +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292435	NM_021907.5(DTNB):c.1292A>G (p.Asp431Gly)	DTNB (D126G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328001	NM_021907.5(DTNB):c.1262G>A (p.Arg421His)	DTNB (R217H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086079	NM_021907.5(DTNB):c.1255G>A (p.Val419Met)	DTNB (V215M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3086078	NM_021907.5(DTNB):c.1219C>T (p.Arg407Cys)	DTNB (R102C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481419	NM_021907.5(DTNB):c.1207C>T (p.Arg403Cys)	DTNB (R403C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273952	NM_021907.5(DTNB):c.1190G>A (p.Arg397Gln)	DTNB (R193Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562475	NM_021907.5(DTNB):c.1168C>T (p.Arg390Cys)	DTNB (R186C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273951	NM_021907.5(DTNB):c.1124A>G (p.His375Arg)	DTNB (H318R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455021	NM_021907.5(DTNB):c.1117G>A (p.Asp373Asn)	DTNB (D226N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291469	NM_021907.5(DTNB):c.967C>G (p.Gln323Glu)	DTNB (Q119E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344955	NM_021907.5(DTNB):c.950A>G (p.His317Arg)	DTNB (H170R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315053	NM_021907.5(DTNB):c.841A>G (p.Ser281Gly)	DTNB (S134G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086088	NM_021907.5(DTNB):c.832G>A (p.Gly278Ser)	DTNB (G278S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086086	NM_021907.5(DTNB):c.830G>T (p.Gly277Val)	DTNB (G277V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594681	NM_021907.5(DTNB):c.829G>A (p.Gly277Ser)	DTNB (G277S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3086085	NM_021907.5(DTNB):c.770G>A (p.Arg257Gln)	DTNB (R200Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224437	NM_021907.5(DTNB):c.476A>G (p.Asn159Ser)	DTNB (N102S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3086084	NM_021907.5(DTNB):c.475A>G (p.Asn159Asp)	DTNB (N102D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2392570	NM_021907.5(DTNB):c.404T>C (p.Met135Thr)	DTNB (M135T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2593202	NM_021907.5(DTNB):c.400G>A (p.Ala134Thr)	DTNB (A77T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2350232	NM_021907.5(DTNB):c.371G>A (p.Arg124Gln)	DTNB (R67Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2604447	NM_021907.5(DTNB):c.334C>G (p.Leu112Val)	DTNB (L112V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526905	NM_021907.5(DTNB):c.331C>T (p.Leu111Phe)	DTNB (L111F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273953	NM_021907.5(DTNB):c.314A>G (p.Glu105Gly)	DTNB (E105G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461020	NM_021907.5(DTNB):c.295A>G (p.Thr99Ala)	DTNB (T42A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086082	NM_021907.5(DTNB):c.238C>T (p.Arg80Cys)	DTNB (R80C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608658	NM_021907.5(DTNB):c.25C>T (p.Arg9Trp)	DTNB (R9W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 37