KLHL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 153172	GRCh38/hg38 13q21.32-21.33(chr13:66118423-70884392)x3	ATXN8OS, KLHL1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 2235311	NM_020866.3(KLHL1):c.2233A>G (p.Ile745Val)	KLHL1 (I684V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324740	NM_020866.3(KLHL1):c.2145C>A (p.Asn715Lys)	KLHL1 (N715K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115462	NM_020866.3(KLHL1):c.2144A>G (p.Asn715Ser)	KLHL1 (N715S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643838	NM_020866.3(KLHL1):c.2134A>G (p.Thr712Ala)	KLHL1 (T651A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473414	NM_020866.3(KLHL1):c.2083G>T (p.Val695Phe)	KLHL1 (V634F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556169	NM_020866.3(KLHL1):c.2060G>A (p.Ser687Asn)	KLHL1 (S626N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115461	NM_020866.3(KLHL1):c.2050G>T (p.Ala684Ser)	KLHL1 (A623S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310546	NM_020866.3(KLHL1):c.2041A>G (p.Thr681Ala)	KLHL1 (T620A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282270	NM_020866.3(KLHL1):c.1994G>A (p.Arg665Gln)	KLHL1 (R665Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546772	NM_020866.3(KLHL1):c.1939G>A (p.Gly647Ser)	KLHL1 (G586S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115460	NM_020866.3(KLHL1):c.1934G>A (p.Cys645Tyr)	KLHL1 (C584Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288879	NM_020866.3(KLHL1):c.1894C>T (p.Pro632Ser)	KLHL1 (P632S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243406	NM_020866.3(KLHL1):c.1891G>A (p.Ala631Thr)	KLHL1 (A631T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317553	NM_020866.3(KLHL1):c.1682A>G (p.His561Arg)	KLHL1 (H500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362129	NM_020866.3(KLHL1):c.1665T>G (p.Ile555Met)	KLHL1 (I555M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115458	NM_020866.3(KLHL1):c.1473G>A (p.Met491Ile)	KLHL1 (M430I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58261	GRCh38/hg38 13q21.33(chr13:69819548-70590191)x3	ATXN8OS, KLHL1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 3115457	NM_020866.3(KLHL1):c.1404T>A (p.Asp468Glu)	KLHL1 (D407E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115456	NM_020866.3(KLHL1):c.1358C>T (p.Pro453Leu)	KLHL1 (P392L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288878	NM_020866.3(KLHL1):c.1312C>G (p.Leu438Val)	KLHL1 (L377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287384	NM_020866.3(KLHL1):c.1186A>G (p.Met396Val)	KLHL1 (M335V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288883	NM_020866.3(KLHL1):c.1140G>T (p.Met380Ile)	KLHL1 (M380I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115455	NM_020866.3(KLHL1):c.1127T>A (p.Phe376Tyr)	KLHL1 (F315Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115454	NM_020866.3(KLHL1):c.1103A>G (p.Asn368Ser)	KLHL1 (N307S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326537	NM_020866.3(KLHL1):c.1090A>G (p.Ser364Gly)	KLHL1 (S364G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58147	GRCh38/hg38 13q21.33(chr13:69936164-70206329)x1	ATXN8OS, KLHL1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3115453	NM_020866.3(KLHL1):c.1009A>G (p.Thr337Ala)	KLHL1 (T276A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261429	NM_020866.3(KLHL1):c.980T>C (p.Ile327Thr)	KLHL1 (I266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496119	NM_020866.3(KLHL1):c.961G>T (p.Ala321Ser)	KLHL1 (A321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550452	NM_020866.3(KLHL1):c.956C>A (p.Ala319Asp)	KLHL1 (A258D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462600	NM_020866.3(KLHL1):c.832A>G (p.Lys278Glu)	KLHL1 (K217E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146033	GRCh38/hg38 13q21.33(chr13:69948741-70206270)x1	ATXN8OS, KLHL1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2371645	NM_020866.3(KLHL1):c.773T>C (p.Ile258Thr)	KLHL1 (I258T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288882	NM_020866.3(KLHL1):c.715G>T (p.Ala239Ser)	KLHL1 (A178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218509	NM_020866.3(KLHL1):c.593C>A (p.Thr198Asn)	KLHL1 (T198N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288880	NM_020866.3(KLHL1):c.529C>G (p.Gln177Glu)	KLHL1 (Q177E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643839	NM_020866.3(KLHL1):c.526C>T (p.Pro176Ser)	KLHL1 (P176S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 790679	NM_020866.3(KLHL1):c.498-3T>C	KLHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768619	NM_020866.3(KLHL1):c.498-32TG[11]	KLHL1	Microsatellite (intron variant)	not provided	GBenign
Select item 157282	NM_001286725.1(KLHL1):c.498-42937_498-30292del	KLHL1	Deletion	Normal pregnancy	Gnot provided
Select item 153837	GRCh38/hg38 13q21.33(chr13:70005620-71038635)x3	ATXN8OS, KLHL1 +6 more	Copy number gain	See cases	GLikely benign
Select item 3115466	NM_020866.3(KLHL1):c.464C>G (p.Ser155Cys)	KLHL1 (S155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251933	NM_020866.3(KLHL1):c.459C>A (p.Asp153Glu)	KLHL1 (D153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483960	NM_020866.3(KLHL1):c.424G>C (p.Gly142Arg)	KLHL1 (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476974	NM_020866.3(KLHL1):c.424G>A (p.Gly142Arg)	KLHL1 (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790680	NM_020866.3(KLHL1):c.372A>C (p.Ser124=)	KLHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3288881	NM_020866.3(KLHL1):c.350G>A (p.Arg117Lys)	KLHL1 (R117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115465	NM_020866.3(KLHL1):c.245C>G (p.Pro82Arg)	ATXN8OS, KLHL1 (P82R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115464	NM_020866.3(KLHL1):c.244C>T (p.Pro82Ser)	ATXN8OS, KLHL1 (P82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115463	NM_020866.3(KLHL1):c.238T>C (p.Ser80Pro)	ATXN8OS, KLHL1 (S80P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325907	NM_020866.3(KLHL1):c.235T>G (p.Ser79Ala)	ATXN8OS, KLHL1 (S79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059673	NM_020866.3(KLHL1):c.234A>G (p.Ser78=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related disorder	GBenign
Select item 3039641	NM_020866.3(KLHL1):c.183G>C (p.Glu61Asp)	ATXN8OS, KLHL1 (E61D)	Single nucleotide variant (missense variant +1 more)	KLHL1-related disorder	GBenign
Select item 3115459	NM_020866.3(KLHL1):c.155G>A (p.Ser52Asn)	ATXN8OS, KLHL1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176326	NM_020866.3(KLHL1):c.99G>A (p.Ala33=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320535	NM_020866.3(KLHL1):c.95C>T (p.Pro32Leu)	ATXN8OS, KLHL1 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052204	NM_020866.3(KLHL1):c.91G>T (p.Gly31Cys)	ATXN8OS, KLHL1 (G31C)	Single nucleotide variant (missense variant +1 more)	KLHL1-related disorder	GLikely benign
Select item 2569682	NM_020866.3(KLHL1):c.88G>A (p.Gly30Ser)	ATXN8OS, KLHL1 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039726	NM_020866.3(KLHL1):c.87C>G (p.Thr29=)	ATXN8OS, KLHL1	Single nucleotide variant (synonymous variant +1 more)	KLHL1-related disorder	GLikely benign
Select item 2622259	NM_020866.3(KLHL1):c.86C>T (p.Thr29Ile)	ATXN8OS, KLHL1 (T29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367633	NM_020866.3(KLHL1):c.11C>G (p.Ser4Cys)	ATXN8OS, KLHL1 (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063304	GRCh37/hg19 13q21.32-21.33(chr13:68064270-71592222)x3	ATXN8OS, KLHL1	Copy number gain	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685471	GRCh37/hg19 13q21.33(chr13:70128311-70516906)x1	KLHL1	Copy number loss	not provided	GUncertain significance
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527780	GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)	ATXN8OS, BORA +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic

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