"Ambry Genetics"[submitter] AND "DET1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081800	NM_001144074.3(DET1):c.1634T>A (p.Met545Lys)	DET1 (M511K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271661	NM_001144074.3(DET1):c.1584C>T (p.Phe528=)	DET1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3081799	NM_001144074.3(DET1):c.1575T>A (p.Phe525Leu)	DET1 (F536L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271664	NM_001144074.3(DET1):c.1472C>T (p.Ala491Val)	DET1 (A502V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2407964	NM_001144074.3(DET1):c.1369G>A (p.Gly457Ser)	DET1 (G423S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081798	NM_001144074.3(DET1):c.1272G>A (p.Arg424=)	DET1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2367882	NM_001144074.3(DET1):c.1247A>T (p.Asn416Ile)	DET1 (N427I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271660	NM_001144074.3(DET1):c.1245C>A (p.Asn415Lys)	DET1 (N381K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285384	NM_001144074.3(DET1):c.1164G>C (p.Glu388Asp)	DET1 (E354D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081797	NM_001144074.3(DET1):c.1150G>C (p.Asp384His)	DET1 (D384H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377631	NM_001144074.3(DET1):c.1115C>T (p.Thr372Met)	DET1 (T338M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604135	NM_001144074.3(DET1):c.1108A>C (p.Met370Leu)	DET1 (M336L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081796	NM_001144074.3(DET1):c.1100T>C (p.Val367Ala)	DET1 (V378A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257479	NM_001144074.3(DET1):c.1013A>T (p.Asp338Val)	DET1 (D304V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267756	NM_001144074.3(DET1):c.913C>T (p.Arg305Cys)	DET1 (R305C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319667	NM_001144074.3(DET1):c.897G>T (p.Leu299Phe)	DET1 (L299F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283031	NM_001144074.3(DET1):c.836G>C (p.Ser279Thr)	DET1 (S279T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081807	NM_001144074.3(DET1):c.761G>A (p.Arg254Gln)	DET1 (R220Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331701	NM_001144074.3(DET1):c.696G>C (p.Leu232Phe)	DET1 (L232F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081806	NM_001144074.3(DET1):c.647T>C (p.Leu216Ser)	DET1 (L182S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556234	NM_001144074.3(DET1):c.625T>G (p.Phe209Val)	DET1 (F220V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271663	NM_001144074.3(DET1):c.623C>T (p.Thr208Met)	DET1 (T219M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458031	NM_001144074.3(DET1):c.551C>A (p.Pro184Gln)	DET1 (P195Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081805	NM_001144074.3(DET1):c.524G>A (p.Arg175Gln)	DET1 (R141Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253086	NM_001144074.3(DET1):c.478G>C (p.Ala160Pro)	DET1 (A160P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081804	NM_001144074.3(DET1):c.367C>T (p.Arg123Cys)	DET1 (R123C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081803	NM_001144074.3(DET1):c.359T>C (p.Leu120Pro)	DET1 (L120P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555309	NM_001144074.3(DET1):c.356G>A (p.Arg119Gln)	DET1 (R119Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469572	NM_001144074.3(DET1):c.355C>T (p.Arg119Trp)	DET1 (R119W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081802	NM_001144074.3(DET1):c.350G>A (p.Arg117Gln)	DET1 (R117Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081801	NM_001144074.3(DET1):c.332A>T (p.Gln111Leu)	DET1 (Q122L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271662	NM_001144074.3(DET1):c.268T>A (p.Cys90Ser)	DET1 (C56S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395065	NM_001144074.3(DET1):c.74G>A (p.Arg25Gln)	DET1 (R25Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081795	NM_001144074.3(DET1):c.71G>A (p.Arg24His)	DET1 (R24H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081794	NM_001144074.3(DET1):c.70C>T (p.Arg24Cys)	DET1 (R35C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351574	NM_001144074.3(DET1):c.62G>A (p.Arg21His)	DET1 (R32H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 36