19002[HGNC] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 152109	GRCh38/hg38 4q31.23-31.3(chr4:149910581-150498400)x3	DCLK2, LOC110121159 +5 more	Copy number gain	See cases	GUncertain significance
Select item 57895	GRCh38/hg38 4q31.23(chr4:149956405-150119840)x3	DCLK2	Copy number gain	See cases	GUncertain significance
Select item 2511925	NM_001040260.4(DCLK2):c.14G>A (p.Arg5Lys)	DCLK2 (R5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521206	NM_001040260.4(DCLK2):c.44G>C (p.Arg15Pro)	DCLK2 (R15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655120	NM_001040260.4(DCLK2):c.63G>C (p.Pro21=)	DCLK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2211593	NM_001040260.4(DCLK2):c.136C>A (p.Pro46Thr)	DCLK2 (P46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259585	NM_001040260.4(DCLK2):c.297C>G (p.Phe99Leu)	DCLK2 (F99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080502	NM_001040260.4(DCLK2):c.300T>G (p.Asp100Glu)	DCLK2 (D100E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343725	NM_001040260.4(DCLK2):c.350C>T (p.Pro117Leu)	DCLK2 (P117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271076	NM_001040260.4(DCLK2):c.408C>G (p.Asp136Glu)	DCLK2 (D136E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313834	NM_001040260.4(DCLK2):c.718G>A (p.Gly240Arg)	DCLK2 (G240R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080503	NM_001040260.4(DCLK2):c.724G>A (p.Val242Ile)	DCLK2 (V242I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302436	NM_001040260.4(DCLK2):c.797T>G (p.Phe266Cys)	DCLK2 (F266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080504	NM_001040260.4(DCLK2):c.805T>C (p.Cys269Arg)	DCLK2 (C269R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080505	NM_001040260.4(DCLK2):c.833A>G (p.Gln278Arg)	DCLK2 (Q278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615623	NM_001040260.4(DCLK2):c.940C>A (p.Arg314Ser)	DCLK2 (R314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606030	NM_001040260.4(DCLK2):c.941G>A (p.Arg314His)	DCLK2 (R314H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271075	NM_001040260.4(DCLK2):c.961+955A>G	DCLK2 (Y331C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272767	NM_001040260.4(DCLK2):c.988T>C (p.Ser330Pro)	DCLK2 (S330P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080498	NM_001040260.4(DCLK2):c.1042T>C (p.Phe348Leu)	DCLK2 (F365L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271074	NM_001040260.4(DCLK2):c.1096G>A (p.Gly366Ser)	DCLK2 (G365S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523783	NM_001040260.4(DCLK2):c.1236A>G (p.Ile412Met)	DCLK2 (I429M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2541620	NM_001040260.4(DCLK2):c.1243T>G (p.Ser415Ala)	DCLK2 (S414A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080499	NM_001040260.4(DCLK2):c.1261G>T (p.Ala421Ser)	DCLK2 (A420S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672999	NM_001040260.4(DCLK2):c.1302A>G (p.Glu434=)	DCLK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080500	NM_001040260.4(DCLK2):c.1451C>T (p.Ser484Leu)	DCLK2 (S501L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366977	NM_001040260.4(DCLK2):c.1502A>G (p.Asn501Ser)	DCLK2 (N501S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212507	NM_001040260.4(DCLK2):c.1531A>G (p.Ile511Val)	DCLK2 (I511V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619455	NM_001040260.4(DCLK2):c.1577A>T (p.Tyr526Phe)	DCLK2 (Y525F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620014	NM_001040260.4(DCLK2):c.1816T>G (p.Leu606Val)	DCLK2 (L605V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282799	NM_001040260.4(DCLK2):c.1858A>G (p.Ile620Val)	DCLK2 (I619V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080501	NM_001040260.4(DCLK2):c.1970A>G (p.Gln657Arg)	DCLK2 (Q674R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271077	NM_001040260.4(DCLK2):c.2018T>G (p.Phe673Cys)	DCLK2 (F690C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508819	NM_001040260.4(DCLK2):c.2068A>G (p.Ile690Val)	DCLK2 (I689V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655121	NM_001040260.4(DCLK2):c.2193T>C (p.Pro731=)	DCLK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205383	NM_001040260.4(DCLK2):c.2203G>A (p.Val735Ile)	DCLK2 (V734I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591599	NM_001040260.4(DCLK2):c.2207C>T (p.Pro736Leu)	DCLK2 (P735L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2533281	NM_001040260.4(DCLK2):c.2284C>T (p.Arg762Cys)	DCLK2 (R762C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322306	NM_001040260.4(DCLK2):c.2294G>A (p.Arg765Gln)	DCLK2 (R765Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685995	GRCh37/hg19 4q31.23-31.3(chr4:150852782-151406064)x3	DCLK2, LRBA	Copy number gain	not provided	GUncertain significance
Select item 2685994	GRCh37/hg19 4q31.23-31.3(chr4:150791450-151120096)x3	DCLK2	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1807903	GRCh37/hg19 4q31.23-31.3(chr4:150448274-151233114)x3	DCLK2, LRBA	Copy number gain	not provided	GUncertain significance
Select item 1697205	NC_000004.11:g.(?_149081621)_(151082561_?)del	DCLK2, NR3C2	Deletion	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980698	GRCh37/hg19 4q31.23-31.3(chr4:150919052-151174062)x3	DCLK2	Copy number gain	not provided	GUncertain significance
Select item 814614	GRCh37/hg19 4q31.23-31.3(chr4:150272871-151174062)x3	DCLK2	Copy number gain	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 68