KLHL21[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 3035585	NM_014851.4(KLHL21):c.1779C>T (p.Pro593=)	KLHL21	Single nucleotide variant (3 prime UTR variant +1 more)	KLHL21-related disorder	GBenign
Select item 2548812	NM_014851.4(KLHL21):c.1771C>T (p.Arg591Trp)	KLHL21 (R591W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2549503	NM_014851.4(KLHL21):c.1769C>T (p.Pro590Leu)	KLHL21 (P590L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3115541	NM_014851.4(KLHL21):c.1763G>A (p.Arg588Gln)	KLHL21 (R588Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209676	NM_014851.4(KLHL21):c.1712G>A (p.Arg571His)	KLHL21 (R571H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2613311	NM_014851.4(KLHL21):c.1700T>C (p.Phe567Ser)	KLHL21 (F567S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2613310	NM_014851.4(KLHL21):c.1699T>A (p.Phe567Ile)	KLHL21 (F567I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2496461	NM_014851.4(KLHL21):c.1622G>T (p.Ser541Ile)	KLHL21 (S541I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3115540	NM_014851.4(KLHL21):c.1580C>T (p.Ser527Leu)	KLHL21 (S527L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2532353	NM_014851.4(KLHL21):c.1532G>T (p.Gly511Val)	KLHL21 (G511V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3288924	NM_014851.4(KLHL21):c.1487C>T (p.Pro496Leu)	KLHL21 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204925	NM_014851.4(KLHL21):c.1384G>A (p.Ala462Thr)	KLHL21, LOC126805599 (A462T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288925	NM_014851.4(KLHL21):c.1364A>G (p.Gln455Arg)	KLHL21, LOC126805599 (Q455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512198	NM_014851.4(KLHL21):c.1298A>G (p.Lys433Arg)	KLHL21, LOC126805599 (K433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043278	NM_014851.4(KLHL21):c.1242C>T (p.Asn414=)	KLHL21, LOC126805599	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 2544209	NM_014851.4(KLHL21):c.1232C>T (p.Pro411Leu)	KLHL21, LOC126805599 (P411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296645	NM_014851.4(KLHL21):c.1190A>G (p.His397Arg)	KLHL21, LOC126805599 (H397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115538	NM_014851.4(KLHL21):c.1183T>A (p.Tyr395Asn)	KLHL21, LOC126805599 (Y395N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115537	NM_014851.4(KLHL21):c.1168G>A (p.Asp390Asn)	KLHL21, LOC126805599 (D390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115536	NM_014851.4(KLHL21):c.1156G>A (p.Val386Met)	KLHL21, LOC126805599 (V386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056491	NM_014851.4(KLHL21):c.1097C>T (p.Ala366Val)	KLHL21, LOC126805599 (A366V)	Single nucleotide variant (missense variant)	KLHL21-related disorder	GLikely benign
Select item 2322496	NM_014851.4(KLHL21):c.1074C>G (p.Ser358Arg)	KLHL21, LOC126805599 (S358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225393	NM_014851.4(KLHL21):c.1054G>A (p.Val352Met)	KLHL21, LOC126805599 (V352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115535	NM_014851.4(KLHL21):c.1046A>T (p.Tyr349Phe)	KLHL21, LOC126805599 (Y349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526766	NM_014851.4(KLHL21):c.1036T>A (p.Ser346Thr)	KLHL21, LOC126805599 (S346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288926	NM_014851.4(KLHL21):c.1004A>G (p.Asn335Ser)	KLHL21 (N335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288927	NM_014851.4(KLHL21):c.983A>G (p.Tyr328Cys)	KLHL21 (Y328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034671	NM_014851.4(KLHL21):c.897C>T (p.Asp299=)	KLHL21, LOC129929253	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GBenign
Select item 2530066	NM_014851.4(KLHL21):c.845C>T (p.Thr282Ile)	KLHL21 (T282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288921	NM_014851.4(KLHL21):c.740G>A (p.Cys247Tyr)	KLHL21 (C247Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115547	NM_014851.4(KLHL21):c.737G>A (p.Arg246His)	KLHL21 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283665	NM_014851.4(KLHL21):c.733G>T (p.Ala245Ser)	KLHL21 (A245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547249	NM_014851.4(KLHL21):c.673C>T (p.Arg225Cys)	KLHL21, LOC129929254 (R225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115546	NM_014851.4(KLHL21):c.655C>A (p.Gln219Lys)	KLHL21, LOC129929254 (Q219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527712	NM_014851.4(KLHL21):c.653C>T (p.Pro218Leu)	KLHL21, LOC129929254 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115545	NM_014851.4(KLHL21):c.646C>G (p.His216Asp)	KLHL21, LOC129929254 (H216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115544	NM_014851.4(KLHL21):c.620G>T (p.Arg207Leu)	KLHL21, LOC129929254 (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041860	NM_014851.4(KLHL21):c.590C>T (p.Ala197Val)	KLHL21, LOC129929254 (A197V)	Single nucleotide variant (missense variant)	KLHL21-related disorder	GBenign
Select item 2491287	NM_014851.4(KLHL21):c.562G>A (p.Asp188Asn)	KLHL21, LOC129929254 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225911	NM_014851.4(KLHL21):c.557G>A (p.Arg186Gln)	KLHL21, LOC129929254 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115543	NM_014851.4(KLHL21):c.553C>A (p.Leu185Met)	KLHL21, LOC129929254 (L185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487795	NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp)	KLHL21 (E167D)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 3288922	NM_014851.4(KLHL21):c.475C>T (p.Arg159Trp)	KLHL21 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534221	NM_014851.4(KLHL21):c.451T>G (p.Ser151Ala)	KLHL21 (S151A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512199	NM_014851.4(KLHL21):c.447C>A (p.Ser149Arg)	KLHL21 (S149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288928	NM_014851.4(KLHL21):c.407C>G (p.Ala136Gly)	KLHL21 (A136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044357	NM_014851.4(KLHL21):c.363G>A (p.Val121=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 2510446	NM_014851.4(KLHL21):c.358G>C (p.Ala120Pro)	KLHL21 (A120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384856	NM_014851.4(KLHL21):c.233G>T (p.Arg78Leu)	KLHL21 (R78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115542	NM_014851.4(KLHL21):c.221C>T (p.Ala74Val)	KLHL21 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288923	NM_014851.4(KLHL21):c.146C>T (p.Ala49Val)	KLHL21 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041121	NM_014851.4(KLHL21):c.123G>A (p.Ala41=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 3115548	NM_014851.4(KLHL21):c.94C>T (p.Arg32Cys)	KLHL21 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278670	NM_014851.4(KLHL21):c.86G>T (p.Arg29Leu)	KLHL21 (R29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048947	NM_014851.4(KLHL21):c.82C>T (p.Leu28=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 3048912	NM_014851.4(KLHL21):c.81G>A (p.Gln27=)	KLHL21	Single nucleotide variant (synonymous variant)	KLHL21-related disorder	GLikely benign
Select item 2591044	NM_014851.4(KLHL21):c.20T>C (p.Leu7Pro)	KLHL21 (L7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685794	GRCh37/hg19 1p36.31(chr1:6498150-6886649)x3	PLEKHG5, TNFRSF25 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1526428	GRCh37/hg19 1p36.31-36.23(chr1:6360146-7888730)	ACOT7, CAMTA1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic

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