DAPK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524171	t(1;9)(p36.3;q23)dn	DAPK1	Translocation	not specified	GUncertain significance
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 149170	GRCh38/hg38 9q21.33-22.1(chr9:87209403-87977877)x3	CDK20, CTSL +28 more	Copy number gain	See cases	GUncertain significance
Select item 57292	GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1	C9orf47, CDK20 +131 more	Copy number loss	See cases	GPathogenic
Select item 793439	NM_004938.4(DAPK1):c.33T>C (p.Asp11=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770750	NM_004938.4(DAPK1):c.42C>T (p.Asp14=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605433	NM_004938.4(DAPK1):c.53A>G (p.Glu18Gly)	DAPK1 (E18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604444	NM_004938.4(DAPK1):c.82A>C (p.Lys28Gln)	DAPK1 (K28Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226223	NM_004938.4(DAPK1):c.91C>T (p.Arg31Cys)	DAPK1 (R31C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313881	NM_004938.4(DAPK1):c.161G>A (p.Arg54Gln)	DAPK1 (R54Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338968	NM_004938.4(DAPK1):c.175G>C (p.Glu59Gln)	DAPK1 (E59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713719	NM_004938.4(DAPK1):c.285-6T>C	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784146	NM_004938.4(DAPK1):c.366A>G (p.Gln122=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1801770	NM_004938.4(DAPK1):c.415G>C (p.Asp139His)	DAPK1 (D139H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2243385	NM_004938.4(DAPK1):c.531A>G (p.Ile177Met)	DAPK1 (I177M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796293	NM_004938.4(DAPK1):c.639G>A (p.Gly213=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2462396	NM_004938.4(DAPK1):c.698A>G (p.Asn233Ser)	DAPK1 (N233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783551	NM_004938.4(DAPK1):c.783-9C>G	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2594086	NM_004938.4(DAPK1):c.804T>G (p.Asp268Glu)	DAPK1 (D268E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395276	NM_004938.4(DAPK1):c.834A>C (p.Lys278Asn)	DAPK1 (K278N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776428	NM_004938.4(DAPK1):c.919-10_919-9insTA	DAPK1	Insertion (intron variant)	not provided	GBenign
Select item 712032	NM_004938.4(DAPK1):c.919-10T>A	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712484	NM_004938.4(DAPK1):c.919-9A>T	DAPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2240046	NM_004938.4(DAPK1):c.947A>G (p.Gln316Arg)	DAPK1 (Q316R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610711	NM_004938.4(DAPK1):c.958A>G (p.Arg320Gly)	DAPK1 (R320G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617158	NM_004938.4(DAPK1):c.961T>G (p.Ser321Ala)	DAPK1 (S321A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267339	NM_004938.4(DAPK1):c.1058A>G (p.Asn353Ser)	DAPK1 (N353S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713720	NM_004938.4(DAPK1):c.1131+9C>T	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709465	NM_004938.4(DAPK1):c.1132-7A>G	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780817	NM_004938.4(DAPK1):c.1209G>A (p.Ser403=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776429	NM_004938.4(DAPK1):c.1231-6C>G	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2313880	NM_004938.4(DAPK1):c.1252T>C (p.Trp418Arg)	DAPK1 (W418R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780818	NM_004938.4(DAPK1):c.1293C>T (p.Leu431=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2229773	NM_004938.4(DAPK1):c.1494T>G (p.Cys498Trp)	DAPK1 (C498W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390169	NM_004938.4(DAPK1):c.1501G>A (p.Gly501Ser)	DAPK1 (G501S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339596	NM_004938.4(DAPK1):c.1575C>G (p.Asp525Glu)	DAPK1 (D525E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659290	NM_004938.4(DAPK1):c.1599T>C (p.His533=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267675	NM_004938.4(DAPK1):c.1609C>G (p.Leu537Val)	DAPK1 (L537V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291678	NM_004938.4(DAPK1):c.1619G>A (p.Cys540Tyr)	DAPK1 (C540Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464809	NM_004938.4(DAPK1):c.1711G>A (p.Asp571Asn)	DAPK1 (D571N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312364	NM_004938.4(DAPK1):c.1724G>A (p.Arg575Lys)	DAPK1 (R575K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748451	NM_004938.4(DAPK1):c.1725G>A (p.Arg575=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624114	NM_004938.4(DAPK1):c.1733A>G (p.Asn578Ser)	DAPK1 (N578S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554538	NM_004938.4(DAPK1):c.1804A>G (p.Asn602Asp)	DAPK1 (N602D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280619	NM_004938.4(DAPK1):c.1880G>A (p.Arg627Gln)	DAPK1 (R627Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713721	NM_004938.4(DAPK1):c.1971C>T (p.His657=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718543	NM_004938.4(DAPK1):c.1972G>T (p.Val658Leu)	DAPK1 (V658L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2246331	NM_004938.4(DAPK1):c.2032C>G (p.Leu678Val)	DAPK1 (L678V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249531	NM_004938.4(DAPK1):c.2119C>T (p.Leu707Phe)	DAPK1 (L707F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612535	NM_004938.4(DAPK1):c.2177C>T (p.Thr726Ile)	DAPK1 (T726I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731613	NM_004938.4(DAPK1):c.2400C>T (p.Asn800=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316621	NM_004938.4(DAPK1):c.2522G>A (p.Ser841Asn)	DAPK1 (S841N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329103	NM_004938.4(DAPK1):c.2556A>C (p.Gln852His)	DAPK1 (Q852H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535489	NM_004938.4(DAPK1):c.2608A>G (p.Ile870Val)	DAPK1 (I870V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558845	NM_004938.4(DAPK1):c.2617G>A (p.Gly873Ser)	DAPK1 (G873S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456942	NM_004938.4(DAPK1):c.2870C>T (p.Ser957Leu)	DAPK1, LOC126860670 (S957L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550405	NM_004938.4(DAPK1):c.2875T>A (p.Cys959Ser)	DAPK1, LOC126860671 (C959S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461659	NM_004938.4(DAPK1):c.2939A>G (p.Asn980Ser)	DAPK1, LOC126860671 (N980S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271797	NM_004938.4(DAPK1):c.2967G>C (p.Gln989His)	DAPK1, LOC126860671 (Q989H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732975	NM_004938.4(DAPK1):c.2976G>T (p.Val992=)	DAPK1, LOC126860671	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2489265	NM_004938.4(DAPK1):c.3058G>A (p.Glu1020Lys)	DAPK1, LOC126860671 (E1020K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774430	NM_004938.4(DAPK1):c.3061-4G>A	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2328934	NM_004938.4(DAPK1):c.3065A>G (p.Asn1022Ser)	DAPK1 (N1022S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249298	NM_004938.4(DAPK1):c.3097C>G (p.Leu1033Val)	DAPK1 (L1033V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485437	NM_004938.4(DAPK1):c.3125C>G (p.Thr1042Arg)	DAPK1 (T1042R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214260	NM_004938.4(DAPK1):c.3130G>A (p.Val1044Ile)	DAPK1 (V1044I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225812	NM_004938.4(DAPK1):c.3163C>T (p.Arg1055Trp)	DAPK1 (R1055W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284587	NM_004938.4(DAPK1):c.3181C>T (p.Arg1061Trp)	DAPK1 (R1061W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588387	NM_004938.4(DAPK1):c.3226A>G (p.Ser1076Gly)	DAPK1 (S1076G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297961	NM_004938.4(DAPK1):c.3274G>A (p.Ala1092Thr)	DAPK1 (A1092T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659291	NM_004938.4(DAPK1):c.3399C>T (p.Pro1133=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522051	NM_004938.4(DAPK1):c.3494C>T (p.Ala1165Val)	DAPK1 (A1165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261151	NM_004938.4(DAPK1):c.3544G>A (p.Glu1182Lys)	DAPK1 (E1182K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345829	NM_004938.4(DAPK1):c.3674C>G (p.Thr1225Ser)	DAPK1 (T1225S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399598	NM_004938.4(DAPK1):c.3745G>A (p.Val1249Ile)	DAPK1 (V1249I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621969	NM_004938.4(DAPK1):c.3752T>C (p.Ile1251Thr)	DAPK1 (I1251T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391547	NM_004938.4(DAPK1):c.3783G>C (p.Gln1261His)	DAPK1 (Q1261H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783028	NM_004938.4(DAPK1):c.3816G>T (p.Met1272Ile)	DAPK1 (M1272I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2521557	NM_004938.4(DAPK1):c.3818G>A (p.Gly1273Glu)	DAPK1 (G1273E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532046	NM_004938.4(DAPK1):c.3849G>A (p.Met1283Ile)	DAPK1 (M1283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740974	NM_004938.4(DAPK1):c.3864C>T (p.His1288=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392399	NM_004938.4(DAPK1):c.3865G>A (p.Asp1289Asn)	DAPK1 (D1289N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770954	NM_004938.4(DAPK1):c.3876A>G (p.Ser1292=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558306	NM_004938.4(DAPK1):c.3926C>T (p.Thr1309Ile)	DAPK1 (T1309I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331210	NM_004938.4(DAPK1):c.3928C>G (p.Arg1310Gly)	DAPK1 (R1310G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492489	NM_004938.4(DAPK1):c.3961G>A (p.Asp1321Asn)	DAPK1 (D1321N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786745	NM_004938.4(DAPK1):c.4041C>T (p.Asn1347=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739762	NM_004938.4(DAPK1):c.4043G>T (p.Gly1348Val)	DAPK1 (G1348V)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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