"Ambry Genetics"[submitter] AND "DPH1"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2350294	NM_001383.6(DPH1):c.-12C>T	DPH1 (R2C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304523	NM_001383.6(DPH1):c.-2T>A	DPH1 (V5E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321321	NM_001383.6(DPH1):c.10C>A (p.Leu4Met)	DPH1 (L9M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085464	NM_001383.6(DPH1):c.11T>C (p.Leu4Pro)	DPH1 (L4P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2441023	NM_001383.6(DPH1):c.65G>A (p.Arg22Gln)	DPH1 (R22Q +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more	GUncertain significance
Select item 2511345	NM_001383.6(DPH1):c.74G>A (p.Arg25Gln)	DPH1 (R30Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398935	NM_001383.6(DPH1):c.82G>A (p.Val28Met)	DPH1 (V33M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256825	NM_001383.6(DPH1):c.136A>G (p.Ile46Val)	DPH1 (I51V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2363993	NM_001383.6(DPH1):c.139C>T (p.Arg47Trp)	DPH1 (R52W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3085462	NM_001383.6(DPH1):c.140G>A (p.Arg47Gln)	DPH1 (R47Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2228708	NM_001383.6(DPH1):c.199G>A (p.Ala67Thr)	DPH1 (A72T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085463	NM_001383.6(DPH1):c.228G>T (p.Met76Ile)	DPH1 (M76I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085465	NM_001383.6(DPH1):c.268A>G (p.Ile90Val)	DPH1 (I90V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230404	NM_001383.6(DPH1):c.279-5C>T	DPH1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2591905	NM_001383.6(DPH1):c.296T>G (p.Val99Gly)	DPH1 (V104G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231425	NM_001383.6(DPH1):c.307G>A (p.Gly103Ser)	DPH1 (G103S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085466	NM_001383.6(DPH1):c.355G>A (p.Ala119Thr)	DPH1 (A119T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 521028	NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	DPH1 (L125P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2458584	NM_001383.6(DPH1):c.416C>T (p.Ser139Leu)	DPH1 (S144L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398308	NM_001383.6(DPH1):c.430C>T (p.Arg144Trp)	DPH1 (R9W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085467	NM_001383.6(DPH1):c.442G>A (p.Val148Ile)	DPH1 (V148I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085468	NM_001383.6(DPH1):c.457C>T (p.Arg153Trp)	DPH1 (R153W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488234	NM_001383.6(DPH1):c.520G>A (p.Ala174Thr)	DPH1 (A179T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236712	NM_001383.6(DPH1):c.558+4G>C	DPH1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3085469	NM_001383.6(DPH1):c.589C>T (p.Arg197Cys)	DPH1 (R202C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561061	NM_001383.6(DPH1):c.653G>A (p.Arg218Gln)	DPH1 (R212Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546813	NM_001383.6(DPH1):c.673G>A (p.Ala225Thr)	DPH1 (A219T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335552	NM_001383.6(DPH1):c.700T>C (p.Phe234Leu)	DPH1 (F239L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085471	NM_001383.6(DPH1):c.742G>A (p.Ala248Thr)	DPH1 (A242T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225838	NM_001383.6(DPH1):c.892C>T (p.Pro298Ser)	DPH1 (P298S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2348746	NM_001383.6(DPH1):c.946G>T (p.Val316Leu)	DPH1 (V300L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314716	NM_001383.6(DPH1):c.958C>G (p.Leu320Val)	DPH1 (L185V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517523	NM_001383.6(DPH1):c.994C>G (p.Pro332Ala)	DPH1 (P332A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085460	NM_001383.6(DPH1):c.1112C>T (p.Ser371Phe)	DPH1 (S344F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621802	NM_001383.6(DPH1):c.1141T>C (p.Tyr381His)	DPH1, LOC130059901 (Y354H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986047	NM_001383.6(DPH1):c.1198del (p.His400fs)	DPH1, LOC130059901 (H265fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478991	NM_001383.6(DPH1):c.1196C>T (p.Pro399Leu)	DPH1, LOC130059901 (P383L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548418	NM_001383.6(DPH1):c.1250C>T (p.Pro417Leu)	DPH1 (P390L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085461	NM_001383.6(DPH1):c.1258G>A (p.Ala420Thr)	DPH1 (A285T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411087	NM_001383.6(DPH1):c.1286G>C (p.Arg429Thr)	DPH1 (R294T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391930	NM_001383.6(DPH1):c.1300G>A (p.Ala434Thr)	DPH1 (A299T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388702	NM_080822.3(OVCA2):c.19C>G (p.Leu7Val)	DPH1, OVCA2 (L7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207459	NM_080822.3(OVCA2):c.25G>T (p.Val9Phe)	DPH1, OVCA2 (V9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207457	NM_080822.3(OVCA2):c.158G>C (p.Gly53Ala)	DPH1, LOC130059903 +1 more (G53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237826	NM_080822.3(OVCA2):c.169G>C (p.Ala57Pro)	DPH1, LOC130059903 +1 more (A57P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207458	NM_080822.3(OVCA2):c.194C>T (p.Pro65Leu)	DPH1, OVCA2 (P65L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390439	NM_080822.3(OVCA2):c.281G>A (p.Gly94Asp)	DPH1, OVCA2 (G94D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377911	NM_080822.3(OVCA2):c.284T>A (p.Leu95Gln)	DPH1, OVCA2 (L95Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491147	NM_080822.3(OVCA2):c.316C>A (p.Leu106Met)	DPH1, OVCA2 (L106M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494824	NM_080822.3(OVCA2):c.325C>G (p.Leu109Val)	DPH1, OVCA2 (L109V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303855	NM_080822.3(OVCA2):c.326T>C (p.Leu109Pro)	DPH1, OVCA2 (L109P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342344	NM_080822.3(OVCA2):c.343C>T (p.Leu115Phe)	DPH1, OVCA2 (L115F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323383	NM_080822.3(OVCA2):c.359A>C (p.Gln120Pro)	DPH1, OVCA2 (Q120P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536484	NM_080822.3(OVCA2):c.425C>T (p.Pro142Leu)	DPH1, OVCA2 (P142L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351092	NM_080822.3(OVCA2):c.541G>A (p.Val181Ile)	DPH1, OVCA2 (V181I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479830	NM_080822.3(OVCA2):c.547C>T (p.Pro183Ser)	DPH1, OVCA2 (P183S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204596	NM_080822.3(OVCA2):c.559A>T (p.Ser187Cys)	DPH1, OVCA2 (S187C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595368	NM_080822.3(OVCA2):c.560G>C (p.Ser187Thr)	DPH1, OVCA2 (S187T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517312	NM_080822.3(OVCA2):c.601A>C (p.Thr201Pro)	DPH1, OVCA2 (T201P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207461	NM_080822.3(OVCA2):c.613G>A (p.Gly205Ser)	DPH1, OVCA2 (G205S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305902	NM_080822.3(OVCA2):c.655C>T (p.Leu219Phe)	DPH1, OVCA2 (L219F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 61