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

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086065	NM_016448.4(DTL):c.11A>G (p.Asn4Ser)	DTL (N4S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2218855	NM_016448.4(DTL):c.104G>C (p.Ser35Thr)	DTL (S35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327615	NM_016448.4(DTL):c.175T>A (p.Ser59Thr)	DTL (S59T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086072	NM_016448.4(DTL):c.271T>G (p.Phe91Val)	DTL (F91V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3086073	NM_016448.4(DTL):c.301G>A (p.Val101Ile)	DTL (V101I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2317305	NM_016448.4(DTL):c.606G>C (p.Lys202Asn)	DTL (K160N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086074	NM_016448.4(DTL):c.629C>T (p.Ala210Val)	DTL (A210V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458680	NM_016448.4(DTL):c.683A>T (p.Asn228Ile)	DTL (N186I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086075	NM_016448.4(DTL):c.848G>A (p.Gly283Asp)	DTL (G12D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220428	NM_016448.4(DTL):c.893T>A (p.Phe298Tyr)	DTL (F298Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273950	NM_016448.4(DTL):c.919C>T (p.Pro307Ser)	DTL (P307S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261112	NM_016448.4(DTL):c.1091C>T (p.Thr364Met)	DTL (T93M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474109	NM_016448.4(DTL):c.1102T>C (p.Trp368Arg)	DTL (W368R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325788	NM_016448.4(DTL):c.1393C>T (p.Pro465Ser)	DTL (P423S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619172	NM_016448.4(DTL):c.1407T>G (p.Ile469Met)	DTL (I469M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260446	NM_016448.4(DTL):c.1421C>G (p.Ala474Gly)	DTL (A432G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086067	NM_016448.4(DTL):c.1497G>A (p.Met499Ile)	DTL (M228I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086068	NM_016448.4(DTL):c.1552C>T (p.Pro518Ser)	DTL (P476S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086069	NM_016448.4(DTL):c.1559C>T (p.Ser520Leu)	DTL (S478L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233652	NM_016448.4(DTL):c.1565C>T (p.Thr522Ile)	DTL (T251I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086070	NM_016448.4(DTL):c.1781A>G (p.Asn594Ser)	DTL (N323S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254013	NM_016448.4(DTL):c.2008C>T (p.Arg670Trp)	DTL (R399W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273949	NM_016448.4(DTL):c.2033G>A (p.Arg678Gln)	DTL (R407Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086071	NM_016448.4(DTL):c.2093C>G (p.Pro698Arg)	DTL (P427R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328936	NM_016448.4(DTL):c.2093C>T (p.Pro698Leu)	DTL (P656L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558063	NM_016448.4(DTL):c.2162T>A (p.Phe721Tyr)	DTL (F721Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 26