"Ambry Genetics"[submitter] AND "DLGAP1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985894	NM_004746.4(DLGAP1):c.2925_2929del (p.Arg976fs)	DLGAP1 (R660fs +6 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3082826	NM_004746.4(DLGAP1):c.2921A>G (p.Gln974Arg)	DLGAP1 (Q682R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518642	NM_004746.4(DLGAP1):c.2657T>C (p.Met886Thr)	DLGAP1 (M570T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082825	NM_004746.4(DLGAP1):c.2597C>A (p.Thr866Asn)	DLGAP1 (T582N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299370	NM_004746.4(DLGAP1):c.2473G>A (p.Glu825Lys)	DLGAP1 (E523K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292363	NM_004746.4(DLGAP1):c.2446C>T (p.Arg816Trp)	DLGAP1 (R500W +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463471	NM_004746.4(DLGAP1):c.2370C>G (p.His790Gln)	DLGAP1 (H498Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082824	NM_004746.4(DLGAP1):c.2276C>T (p.Thr759Met)	DLGAP1 (T457M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082823	NM_004746.4(DLGAP1):c.2252G>T (p.Cys751Phe)	DLGAP1 (C429F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606653	NM_004746.4(DLGAP1):c.2201C>T (p.Ala734Val)	DLGAP1 (A440V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520923	NM_004746.4(DLGAP1):c.2195G>A (p.Arg732His)	DLGAP1 (R410H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082822	NM_004746.4(DLGAP1):c.2176A>T (p.Met726Leu)	DLGAP1 (M404L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246848	NM_004746.4(DLGAP1):c.2152G>C (p.Glu718Gln)	DLGAP1 (E402Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376409	NM_004746.4(DLGAP1):c.2147C>T (p.Ser716Phe)	DLGAP1 (S394F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335520	NM_004746.4(DLGAP1):c.1907C>T (p.Thr636Met)	DLGAP1 (T320M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596119	NM_004746.4(DLGAP1):c.1724G>A (p.Gly575Asp)	DLGAP1 (G273D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241429	NM_004746.4(DLGAP1):c.1486C>T (p.Arg496Trp)	DLGAP1 (R208W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270964	NM_004746.4(DLGAP1):c.1381G>A (p.Glu461Lys)	DLGAP1 (E205K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607601	NM_004746.4(DLGAP1):c.1330G>T (p.Ala444Ser)	DLGAP1 (A142S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383715	NM_004746.4(DLGAP1):c.1094C>T (p.Pro365Leu)	DLGAP1 (P63L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376758	NM_004746.4(DLGAP1):c.905C>T (p.Ala302Val)	DLGAP1, DLGAP1-AS3 (A302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276144	NM_004746.4(DLGAP1):c.781A>G (p.Thr261Ala)	DLGAP1, DLGAP1-AS3 (T261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301491	NM_004746.4(DLGAP1):c.656C>T (p.Ser219Leu)	DLGAP1, DLGAP1-AS3 (S219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293221	NM_004746.4(DLGAP1):c.628G>A (p.Gly210Ser)	DLGAP1, DLGAP1-AS3 (G210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082827	NM_004746.4(DLGAP1):c.560G>A (p.Arg187Gln)	DLGAP1, DLGAP1-AS3 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612014	NM_004746.4(DLGAP1):c.536G>A (p.Gly179Asp)	DLGAP1, DLGAP1-AS3 (G179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515530	NM_004746.4(DLGAP1):c.533A>G (p.Tyr178Cys)	DLGAP1, DLGAP1-AS3 (Y178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381048	NM_004746.4(DLGAP1):c.518C>T (p.Ala173Val)	DLGAP1, DLGAP1-AS3 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314297	NM_004746.4(DLGAP1):c.418C>G (p.His140Asp)	DLGAP1-AS3, DLGAP1 (H140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510783	NM_004746.4(DLGAP1):c.353A>G (p.Tyr118Cys)	DLGAP1, DLGAP1-AS3 (Y118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326728	NM_004746.4(DLGAP1):c.315C>G (p.Asp105Glu)	DLGAP1, DLGAP1-AS3 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608774	NM_004746.4(DLGAP1):c.169T>C (p.Cys57Arg)	DLGAP1, DLGAP1-AS3 (C57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536351	NM_004746.4(DLGAP1):c.148C>T (p.Arg50Trp)	DLGAP1, DLGAP1-AS3 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588285	NM_004746.4(DLGAP1):c.85C>T (p.Arg29Cys)	DLGAP1, DLGAP1-AS3 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082828	NM_004746.4(DLGAP1):c.82G>A (p.Asp28Asn)	DLGAP1, DLGAP1-AS3 (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082821	NM_004746.4(DLGAP1):c.14C>T (p.Ser5Leu)	DLGAP1, DLGAP1-AS3 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36