ClinVar for Gene (Select 9229) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346866	NM_004746.4(DLGAP1):c.205A>C (p.Thr69Pro)	DLGAP1, DLGAP1-AS3 (T69P)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GUncertain significance
Select item 3346702	NM_004746.4(DLGAP1):c.806T>A (p.Leu269Gln)	DLGAP1, DLGAP1-AS3 (L269Q)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GUncertain significance
Select item 3272271	NM_004746.4(DLGAP1):c.593C>T (p.Ser198Phe)	DLGAP1, DLGAP1-AS3 (S198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272270	NM_004746.4(DLGAP1):c.2767G>A (p.Gly923Ser)	DLGAP1 (G621S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272269	NM_004746.4(DLGAP1):c.22C>T (p.Arg8Cys)	DLGAP1, DLGAP1-AS3 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272268	NM_004746.4(DLGAP1):c.2714T>A (p.Leu905His)	DLGAP1 (L627H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272267	NM_004746.4(DLGAP1):c.368A>T (p.Tyr123Phe)	DLGAP1, DLGAP1-AS3 (Y123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272266	NM_004746.4(DLGAP1):c.1380C>G (p.Phe460Leu)	DLGAP1 (F210L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272265	NM_004746.4(DLGAP1):c.815C>A (p.Pro272Gln)	DLGAP1, DLGAP1-AS3 (P272Q)	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 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 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 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 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 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 3082821	NM_004746.4(DLGAP1):c.14C>T (p.Ser5Leu)	DLGAP1, DLGAP1-AS3 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3060984	NM_004746.4(DLGAP1):c.1083G>C (p.Thr361=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3060604	NM_004746.4(DLGAP1):c.1551G>A (p.Pro517=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3056726	NM_004746.4(DLGAP1):c.1590G>A (p.Thr530=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3056276	NM_004746.4(DLGAP1):c.2349C>T (p.Ala783=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3056064	NM_004746.4(DLGAP1):c.2389C>T (p.Leu797=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3055806	NM_004746.4(DLGAP1):c.1548G>A (p.Pro516=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3054756	NM_004746.4(DLGAP1):c.1392C>T (p.Cys464=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3054401	NM_004746.4(DLGAP1):c.406G>A (p.Gly136Ser)	DLGAP1, DLGAP1-AS3 (G136S)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GLikely benign
Select item 3053483	NM_004746.4(DLGAP1):c.57C>A (p.Ala19=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3052453	NM_004746.4(DLGAP1):c.1488G>A (p.Arg496=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3051867	NM_004746.4(DLGAP1):c.421C>T (p.Leu141=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3047198	NM_004746.4(DLGAP1):c.1434G>T (p.Ala478=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3043779	NM_004746.4(DLGAP1):c.957+4875G>C	DLGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	DLGAP1-related disorder	GBenign
Select item 3043709	NM_004746.4(DLGAP1):c.2613G>A (p.Ala871=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3039311	NM_004746.4(DLGAP1):c.1351-3C>T	DLGAP1	Single nucleotide variant (intron variant)	DLGAP1-related disorder	GLikely benign
Select item 3038851	NM_004746.4(DLGAP1):c.345C>T (p.Arg115=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3038427	NM_004746.4(DLGAP1):c.957+4405C>G	DLGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	DLGAP1-related disorder	GLikely benign
Select item 3037438	NM_004746.4(DLGAP1):c.2447G>A (p.Arg816Gln)	DLGAP1 (R494Q +15 more)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GBenign
Select item 3034969	NM_004746.4(DLGAP1):c.957+4508T>C	DLGAP1	Single nucleotide variant (intron variant)	DLGAP1-related disorder	GBenign
Select item 3033863	NM_004746.4(DLGAP1):c.1383G>A (p.Glu461=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3033733	NM_004746.4(DLGAP1):c.860G>A (p.Arg287Gln)	DLGAP1, DLGAP1-AS3 (R287Q)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GLikely benign
Select item 3033553	NM_004746.4(DLGAP1):c.957+4506C>T	DLGAP1	Single nucleotide variant (intron variant)	DLGAP1-related disorder	GLikely benign
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2648534	NM_004746.4(DLGAP1):c.567G>A (p.Ala189=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648533	NM_004746.4(DLGAP1):c.2913C>T (p.Pro971=)	DLGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
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 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 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 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 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 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 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2429870	NM_004746.4(DLGAP1):c.733G>T (p.Glu245Ter)	DLGAP1-AS3, DLGAP1 (E245*)	Single nucleotide variant (nonsense)	Developmental disorder	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 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 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 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 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 2314297	NM_004746.4(DLGAP1):c.418C>G (p.His140Asp)	DLGAP1, DLGAP1-AS3 (H140D)	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 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 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 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 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 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 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 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 1809068	GRCh37/hg19 18p11.31(chr18:3824312-6983454)x1	AKAIN1, ARHGAP28 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808701	GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1	DLGAP1, DLGAP1-AS2 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807893	GRCh37/hg19 18p11.31(chr18:4112815-4195858)x1	DLGAP1	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1807658	GRCh37/hg19 18p11.32-11.31(chr18:2485817-4086341)x3	DLGAP1, DLGAP1-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	DLGAP1, DLGAP1-AS2 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526600	GRCh37/hg19 18p11.31(chr18:3914584-5267842)	AKAIN1, DLGAP1	Copy number loss	not specified	GUncertain significance
Select item 1526599	GRCh37/hg19 18p11.31-11.23(chr18:3532742-7487522)	AKAIN1, ARHGAP28 +8 more	Copy number gain	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic

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