ClinVar for Gene (Select 1612) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080076	NM_004938.4(DAPK1):c.769G>A (p.Val257Ile)	DAPK1 (V257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080075	NM_004938.4(DAPK1):c.4043G>A (p.Gly1348Glu)	DAPK1 (G1348E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080074	NM_004938.4(DAPK1):c.3900C>G (p.Ile1300Met)	DAPK1 (I1300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080073	NM_004938.4(DAPK1):c.3868G>A (p.Val1290Ile)	DAPK1 (V1290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080071	NM_004938.4(DAPK1):c.377G>A (p.Gly126Asp)	DAPK1 (G126D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080070	NM_004938.4(DAPK1):c.3503G>A (p.Arg1168His)	DAPK1 (R1168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080069	NM_004938.4(DAPK1):c.3461G>A (p.Arg1154Gln)	DAPK1 (R1154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080068	NM_004938.4(DAPK1):c.3385G>A (p.Val1129Met)	DAPK1 (V1129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080067	NM_004938.4(DAPK1):c.3307G>A (p.Val1103Ile)	DAPK1 (V1103I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080066	NM_004938.4(DAPK1):c.290C>T (p.Ala97Val)	DAPK1 (A97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080065	NM_004938.4(DAPK1):c.286G>T (p.Val96Phe)	DAPK1 (V96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080064	NM_004938.4(DAPK1):c.2455G>A (p.Val819Met)	DAPK1 (V819M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080063	NM_004938.4(DAPK1):c.2401G>A (p.Ala801Thr)	DAPK1 (A801T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080062	NM_004938.4(DAPK1):c.1861G>A (p.Gly621Arg)	DAPK1 (G621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080061	NM_004938.4(DAPK1):c.1801T>G (p.Cys601Gly)	DAPK1 (C601G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080060	NM_004938.4(DAPK1):c.1772C>T (p.Pro591Leu)	DAPK1 (P591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080059	NM_004938.4(DAPK1):c.1629C>G (p.Asp543Glu)	DAPK1 (D543E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080058	NM_004938.4(DAPK1):c.1510G>A (p.Val504Met)	DAPK1 (V504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080057	NM_004938.4(DAPK1):c.1375G>A (p.Asp459Asn)	DAPK1 (D459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080056	NM_004938.4(DAPK1):c.1149A>C (p.Leu383Phe)	DAPK1 (L383F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684582	GRCh37/hg19 9q21.33-22.1(chr9:90211612-90496584)x3	CTSL, DAPK1	Copy number gain	not provided	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 2659290	NM_004938.4(DAPK1):c.1599T>C (p.His533=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624115	NM_004938.4(DAPK1):c.4238C>G (p.Ser1413Trp)	DAPK1 (S1413W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624114	NM_004938.4(DAPK1):c.1733A>G (p.Asn578Ser)	DAPK1 (N578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621969	NM_004938.4(DAPK1):c.3752T>C (p.Ile1251Thr)	DAPK1 (I1251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617158	NM_004938.4(DAPK1):c.961T>G (p.Ser321Ala)	DAPK1 (S321A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612535	NM_004938.4(DAPK1):c.2177C>T (p.Thr726Ile)	DAPK1 (T726I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610711	NM_004938.4(DAPK1):c.958A>G (p.Arg320Gly)	DAPK1 (R320G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609802	NM_004938.4(DAPK1):c.4253G>T (p.Gly1418Val)	DAPK1 (G1418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605433	NM_004938.4(DAPK1):c.53A>G (p.Glu18Gly)	DAPK1 (E18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604444	NM_004938.4(DAPK1):c.82A>C (p.Lys28Gln)	DAPK1 (K28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594086	NM_004938.4(DAPK1):c.804T>G (p.Asp268Glu)	DAPK1 (D268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588387	NM_004938.4(DAPK1):c.3226A>G (p.Ser1076Gly)	DAPK1 (S1076G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558845	NM_004938.4(DAPK1):c.2617G>A (p.Gly873Ser)	DAPK1 (G873S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558306	NM_004938.4(DAPK1):c.3926C>T (p.Thr1309Ile)	DAPK1 (T1309I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554538	NM_004938.4(DAPK1):c.1804A>G (p.Asn602Asp)	DAPK1 (N602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550405	NM_004938.4(DAPK1):c.2875T>A (p.Cys959Ser)	DAPK1, LOC126860671 (C959S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535489	NM_004938.4(DAPK1):c.2608A>G (p.Ile870Val)	DAPK1 (I870V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532046	NM_004938.4(DAPK1):c.3849G>A (p.Met1283Ile)	DAPK1 (M1283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531698	NM_004938.4(DAPK1):c.4264A>C (p.Asn1422His)	DAPK1 (N1422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522051	NM_004938.4(DAPK1):c.3494C>T (p.Ala1165Val)	DAPK1 (A1165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521557	NM_004938.4(DAPK1):c.3818G>A (p.Gly1273Glu)	DAPK1 (G1273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492489	NM_004938.4(DAPK1):c.3961G>A (p.Asp1321Asn)	DAPK1 (D1321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489265	NM_004938.4(DAPK1):c.3058G>A (p.Glu1020Lys)	DAPK1, LOC126860671 (E1020K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485437	NM_004938.4(DAPK1):c.3125C>G (p.Thr1042Arg)	DAPK1 (T1042R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470254	NM_004938.4(DAPK1):c.4217A>G (p.Asn1406Ser)	DAPK1 (N1406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464809	NM_004938.4(DAPK1):c.1711G>A (p.Asp571Asn)	DAPK1 (D571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462396	NM_004938.4(DAPK1):c.698A>G (p.Asn233Ser)	DAPK1 (N233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461659	NM_004938.4(DAPK1):c.2939A>G (p.Asn980Ser)	DAPK1, LOC126860671 (N980S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456942	NM_004938.4(DAPK1):c.2870C>T (p.Ser957Leu)	DAPK1, LOC126860670 (S957L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399598	NM_004938.4(DAPK1):c.3745G>A (p.Val1249Ile)	DAPK1 (V1249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395276	NM_004938.4(DAPK1):c.834A>C (p.Lys278Asn)	DAPK1 (K278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392399	NM_004938.4(DAPK1):c.3865G>A (p.Asp1289Asn)	DAPK1 (D1289N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391547	NM_004938.4(DAPK1):c.3783G>C (p.Gln1261His)	DAPK1 (Q1261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390169	NM_004938.4(DAPK1):c.1501G>A (p.Gly501Ser)	DAPK1 (G501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389842	NM_004938.4(DAPK1):c.4052A>G (p.Lys1351Arg)	DAPK1 (K1351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345829	NM_004938.4(DAPK1):c.3674C>G (p.Thr1225Ser)	DAPK1 (T1225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339596	NM_004938.4(DAPK1):c.1575C>G (p.Asp525Glu)	DAPK1 (D525E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338968	NM_004938.4(DAPK1):c.175G>C (p.Glu59Gln)	DAPK1 (E59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331210	NM_004938.4(DAPK1):c.3928C>G (p.Arg1310Gly)	DAPK1 (R1310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329103	NM_004938.4(DAPK1):c.2556A>C (p.Gln852His)	DAPK1 (Q852H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328934	NM_004938.4(DAPK1):c.3065A>G (p.Asn1022Ser)	DAPK1 (N1022S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316621	NM_004938.4(DAPK1):c.2522G>A (p.Ser841Asn)	DAPK1 (S841N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313881	NM_004938.4(DAPK1):c.161G>A (p.Arg54Gln)	DAPK1 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313880	NM_004938.4(DAPK1):c.1252T>C (p.Trp418Arg)	DAPK1 (W418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312364	NM_004938.4(DAPK1):c.1724G>A (p.Arg575Lys)	DAPK1 (R575K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297961	NM_004938.4(DAPK1):c.3274G>A (p.Ala1092Thr)	DAPK1 (A1092T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291678	NM_004938.4(DAPK1):c.1619G>A (p.Cys540Tyr)	DAPK1 (C540Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284587	NM_004938.4(DAPK1):c.3181C>T (p.Arg1061Trp)	DAPK1 (R1061W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280619	NM_004938.4(DAPK1):c.1880G>A (p.Arg627Gln)	DAPK1 (R627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271797	NM_004938.4(DAPK1):c.2967G>C (p.Gln989His)	DAPK1, LOC126860671 (Q989H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267675	NM_004938.4(DAPK1):c.1609C>G (p.Leu537Val)	DAPK1 (L537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267339	NM_004938.4(DAPK1):c.1058A>G (p.Asn353Ser)	DAPK1 (N353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261151	NM_004938.4(DAPK1):c.3544G>A (p.Glu1182Lys)	DAPK1 (E1182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249531	NM_004938.4(DAPK1):c.2119C>T (p.Leu707Phe)	DAPK1 (L707F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249298	NM_004938.4(DAPK1):c.3097C>G (p.Leu1033Val)	DAPK1 (L1033V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246331	NM_004938.4(DAPK1):c.2032C>G (p.Leu678Val)	DAPK1 (L678V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243385	NM_004938.4(DAPK1):c.531A>G (p.Ile177Met)	DAPK1 (I177M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243011	NM_004938.4(DAPK1):c.4053G>T (p.Lys1351Asn)	DAPK1 (K1351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240046	NM_004938.4(DAPK1):c.947A>G (p.Gln316Arg)	DAPK1 (Q316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229773	NM_004938.4(DAPK1):c.1494T>G (p.Cys498Trp)	DAPK1 (C498W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226223	NM_004938.4(DAPK1):c.91C>T (p.Arg31Cys)	DAPK1 (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225812	NM_004938.4(DAPK1):c.3163C>T (p.Arg1055Trp)	DAPK1 (R1055W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214260	NM_004938.4(DAPK1):c.3130G>A (p.Val1044Ile)	DAPK1 (V1044I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808880	GRCh37/hg19 9q21.33-22.1(chr9:90266171-90565780)x3	CTSL, DAPK1 +2 more	Copy number gain	not provided	GUncertain significance
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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 979267	GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1	CKS2, DAPK1-IT1 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 815266	GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3	AUH, C9orf47 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 796293	NM_004938.4(DAPK1):c.639G>A (p.Gly213=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793439	NM_004938.4(DAPK1):c.33T>C (p.Asp11=)	DAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786745	NM_004938.4(DAPK1):c.4041C>T (p.Asn1347=)	DAPK1	Single nucleotide variant (synonymous 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 783552	NM_004938.4(DAPK1):c.4214G>T (p.Gly1405Val)	DAPK1 (G1405V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783551	NM_004938.4(DAPK1):c.783-9C>G	DAPK1	Single nucleotide variant (intron variant)	not provided	GBenign

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