DAGLA[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign
Select item 3052577	NM_006133.3(DAGLA):c.12C>T (p.Ile4=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GLikely benign
Select item 3060353	NM_006133.3(DAGLA):c.63G>A (p.Pro21=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GBenign
Select item 3367730	NM_006133.3(DAGLA):c.96G>A (p.Trp32Ter)	DAGLA (W32*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2603414	NM_006133.3(DAGLA):c.124G>A (p.Gly42Ser)	DAGLA (G42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613288	NM_006133.3(DAGLA):c.161A>G (p.Asn54Ser)	DAGLA (N54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596625	NM_006133.3(DAGLA):c.166G>A (p.Val56Met)	DAGLA (V56M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371020	NM_006133.3(DAGLA):c.241A>G (p.Met81Val)	DAGLA (M81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033512	NM_006133.3(DAGLA):c.246C>T (p.Arg82=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GLikely benign
Select item 3030816	NM_006133.3(DAGLA):c.380A>G (p.Asn127Ser)	DAGLA (N127S)	Single nucleotide variant (missense variant)	DAGLA-related disorder	GUncertain significance
Select item 3052633	NM_006133.3(DAGLA):c.410-4G>A	DAGLA	Single nucleotide variant (intron variant)	DAGLA-related disorder	GLikely benign
Select item 783596	NM_006133.3(DAGLA):c.471C>T (p.Phe157=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3338174	NM_006133.3(DAGLA):c.647C>G (p.Ser216Ter)	DAGLA (S216*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 2228771	NM_006133.3(DAGLA):c.743G>A (p.Arg248Gln)	DAGLA (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616693	NM_006133.3(DAGLA):c.757G>A (p.Ala253Thr)	DAGLA (A253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080009	NM_006133.3(DAGLA):c.769G>A (p.Glu257Lys)	DAGLA (E257K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746838	NM_006133.3(DAGLA):c.780T>C (p.Asn260=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632571	NM_006133.3(DAGLA):c.856A>T (p.Met286Leu)	DAGLA (M286L)	Single nucleotide variant (missense variant)	DAGLA-related disorder	GUncertain significance
Select item 2504892	NM_006133.3(DAGLA):c.881A>G (p.Tyr294Cys)	DAGLA (Y294C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3080010	NM_006133.3(DAGLA):c.935A>G (p.Lys312Arg)	DAGLA (K312R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352133	NM_006133.3(DAGLA):c.998C>T (p.Pro333Leu)	DAGLA (P333L)	Single nucleotide variant (missense variant)	DAGLA-related disorder	GUncertain significance
Select item 785355	NM_006133.3(DAGLA):c.1005C>T (p.Phe335=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079999	NM_006133.3(DAGLA):c.1021A>G (p.Ile341Val)	DAGLA (I341V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270830	NM_006133.3(DAGLA):c.1022T>C (p.Ile341Thr)	DAGLA (I341T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459488	NM_006133.3(DAGLA):c.1064G>A (p.Arg355Gln)	DAGLA (R355Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641832	NM_006133.3(DAGLA):c.1128G>A (p.Ala376=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367499	NM_006133.3(DAGLA):c.1167C>A (p.Asp389Glu)	DAGLA (D389E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252786	NM_006133.3(DAGLA):c.1379G>T (p.Gly460Val)	DAGLA (G460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060723	NM_006133.3(DAGLA):c.1524G>A (p.Ala508=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GBenign
Select item 743522	NM_006133.3(DAGLA):c.1542G>A (p.Glu514=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3270824	NM_006133.3(DAGLA):c.1552G>T (p.Ala518Ser)	DAGLA (A518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045540	NM_006133.3(DAGLA):c.1657-4G>A	DAGLA	Single nucleotide variant (intron variant)	DAGLA-related disorder	GLikely benign
Select item 3080000	NM_006133.3(DAGLA):c.1733C>G (p.Ala578Gly)	DAGLA (A578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3045733	NM_006133.3(DAGLA):c.1785C>G (p.Ala595=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GLikely benign
Select item 3080001	NM_006133.3(DAGLA):c.1790C>T (p.Thr597Ile)	DAGLA (T597I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056430	NM_006133.3(DAGLA):c.1983+10C>T	DAGLA	Single nucleotide variant (intron variant)	DAGLA-related disorder	GBenign
Select item 932507	NM_006133.3(DAGLA):c.2007G>C (p.Gly669=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723043	NM_006133.3(DAGLA):c.2052C>A (p.Thr684=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402493	NM_006133.3(DAGLA):c.2147C>T (p.Ala716Val)	DAGLA (A716V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458280	NM_006133.3(DAGLA):c.2167G>A (p.Val723Ile)	DAGLA (V723I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297884	NM_006133.3(DAGLA):c.2192T>C (p.Met731Thr)	DAGLA (M731T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776618	NM_006133.3(DAGLA):c.2204G>T (p.Gly735Val)	DAGLA (G735V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3052350	NM_006133.3(DAGLA):c.2244G>A (p.Ala748=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GLikely benign
Select item 3057017	NM_006133.3(DAGLA):c.2246C>T (p.Ala749Val)	DAGLA (A749V)	Single nucleotide variant (missense variant)	DAGLA-related disorder	GLikely benign
Select item 3037919	NM_006133.3(DAGLA):c.2249C>T (p.Ala750Val)	DAGLA (A750V)	Single nucleotide variant (missense variant)	DAGLA-related disorder	GLikely benign
Select item 3270828	NM_006133.3(DAGLA):c.2251C>T (p.Arg751Cys)	DAGLA (R751C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383901	NM_006133.3(DAGLA):c.2261C>T (p.Pro754Leu)	DAGLA (P754L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328358	NM_006133.3(DAGLA):c.2282C>T (p.Ser761Phe)	DAGLA (S761F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1274834	NM_006133.3(DAGLA):c.2301G>A (p.Ala767=)	DAGLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346266	NM_006133.3(DAGLA):c.2317C>T (p.Arg773Trp)	DAGLA (R773W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346808	NM_006133.3(DAGLA):c.2318G>A (p.Arg773Gln)	DAGLA (R773Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233425	NM_006133.3(DAGLA):c.2370C>G (p.Tyr790Ter)	DAGLA (Y790*)	Single nucleotide variant (nonsense)	Benign paroxysmal tonic upgaze of childhood with ataxia	GPathogenic
Select item 2663893	NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)	DAGLA, MYRF-AS1 (L813fs)	Deletion (frameshift variant)	Autosomal dominant cerebellar ataxia	GLikely pathogenic
Select item 3041620	NM_006133.3(DAGLA):c.2439G>A (p.Leu813=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GBenign
Select item 3233428	NM_006133.3(DAGLA):c.2440G>T (p.Glu814Ter)	DAGLA (E814*)	Single nucleotide variant (nonsense)	Benign paroxysmal tonic upgaze of childhood with ataxia	GPathogenic
Select item 2505472	NM_006133.3(DAGLA):c.2456_2457del (p.His819fs)	DAGLA (H819fs)	Deletion (frameshift variant)	DAGLA-related disorder	GUncertain significance
Select item 2672162	NM_006133.3(DAGLA):c.2468T>C (p.Ile823Thr)	DAGLA (I823T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3075711	NM_006133.3(DAGLA):c.2484del (p.Glu829fs)	DAGLA (E829fs)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 3040997	NM_006133.3(DAGLA):c.2484C>T (p.Pro828=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GLikely benign
Select item 3233426	NM_006133.3(DAGLA):c.2485G>T (p.Glu829Ter)	DAGLA (E829*)	Single nucleotide variant (nonsense)	Benign paroxysmal tonic upgaze of childhood with ataxia	GPathogenic
Select item 3080002	NM_006133.3(DAGLA):c.2513C>T (p.Thr838Ile)	DAGLA (T838I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662807	NM_006133.3(DAGLA):c.2551C>T (p.Gln851Ter)	DAGLA (Q851*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2561017	NM_006133.3(DAGLA):c.2605C>T (p.Arg869Trp)	DAGLA (R869W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233427	NM_006133.3(DAGLA):c.2613dup (p.Ser872fs)	DAGLA (S872fs)	Duplication (frameshift variant)	Benign paroxysmal tonic upgaze of childhood with ataxia	GUncertain significance
Select item 3080003	NM_006133.3(DAGLA):c.2631C>A (p.Asp877Glu)	DAGLA (D877E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3040716	NM_006133.3(DAGLA):c.2661C>T (p.Gly887=)	DAGLA	Single nucleotide variant (synonymous variant)	DAGLA-related disorder	GLikely benign
Select item 3059923	NM_006133.3(DAGLA):c.2666C>T (p.Pro889Leu)	DAGLA (P889L)	Single nucleotide variant (missense variant)	DAGLA-related disorder	GBenign
Select item 3080004	NM_006133.3(DAGLA):c.2674C>T (p.Arg892Cys)	DAGLA (R892C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270825	NM_006133.3(DAGLA):c.2701C>T (p.Arg901Cys)	DAGLA (R901C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2507101	NM_006133.3(DAGLA):c.2740_2742delinsCTCAGGTGCTG (p.Ala914fs)	DAGLA (A914fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3351200	NM_006133.3(DAGLA):c.2804_2812del (p.Cys935_Val938delinsLeu)	DAGLA	Deletion (inframe_indel)	DAGLA-related disorder	GUncertain significance
Select item 3080005	NM_006133.3(DAGLA):c.2804G>A (p.Cys935Tyr)	DAGLA (C935Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080006	NM_006133.3(DAGLA):c.2809G>T (p.Val937Leu)	DAGLA (V937L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080007	NM_006133.3(DAGLA):c.2855C>T (p.Ser952Phe)	DAGLA (S952F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270829	NM_006133.3(DAGLA):c.2861G>C (p.Ser954Thr)	DAGLA (S954T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2396228	NM_006133.3(DAGLA):c.2893G>A (p.Glu965Lys)	DAGLA (E965K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785888	NM_006133.3(DAGLA):c.2962C>G (p.Leu988Val)	DAGLA (L988V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257048	NM_006133.3(DAGLA):c.3011C>T (p.Thr1004Met)	DAGLA (T1004M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080008	NM_006133.3(DAGLA):c.3017C>T (p.Thr1006Met)	DAGLA (T1006M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470714	NM_006133.3(DAGLA):c.3036A>T (p.Glu1012Asp)	DAGLA (E1012D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 690309	NM_006133.3(DAGLA):c.3049G>C (p.Asp1017His)	DAGLA (D1017H)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder	GUncertain significance
Select item 2481945	NM_006133.3(DAGLA):c.3070C>G (p.Pro1024Ala)	DAGLA (P1024A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270831	NM_006133.3(DAGLA):c.3071C>A (p.Pro1024His)	DAGLA (P1024H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613364	NM_006133.3(DAGLA):c.3125G>C (p.Arg1042Pro)	DAGLA (R1042P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464802	NM_006133.3(DAGLA):c.3125G>T (p.Arg1042Leu)	DAGLA (R1042L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426363	NC_000011.9:g.(?_61197619)_(61552680_?)del	DAGLA, LRRC10B +4 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 3361661	NM_006133.3(DAGLA):c.2743del (p.Glu915fs)	DAGLA (E915fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 99