ClinVar for Gene (Select 57626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3288881	NM_020866.3(KLHL1):c.350G>A (p.Arg117Lys)	KLHL1 (R117K)	Single nucleotide variant (missense variant)	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 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 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 3115466	NM_020866.3(KLHL1):c.464C>G (p.Ser155Cys)	KLHL1 (S155C)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2569682	NM_020866.3(KLHL1):c.88G>A (p.Gly30Ser)	ATXN8OS, KLHL1 (G30S)	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 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 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 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 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 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 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 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 2367633	NM_020866.3(KLHL1):c.11C>G (p.Ser4Cys)	ATXN8OS, KLHL1 (S4C)	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 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 2325907	NM_020866.3(KLHL1):c.235T>G (p.Ser79Ala)	ATXN8OS, KLHL1 (S79A)	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 2320535	NM_020866.3(KLHL1):c.95C>T (p.Pro32Leu)	ATXN8OS, KLHL1 (P32L)	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 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 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 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 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 2251933	NM_020866.3(KLHL1):c.459C>A (p.Asp153Glu)	KLHL1 (D153E)	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 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 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 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
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1340563	GRCh37/hg19 13q21.33(chr13:70391359-70494595)x1	KLHL1	Copy number loss	not provided	GUncertain significance
Select item 1340297	GRCh37/hg19 13q21.33(chr13:70491587-70782030)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
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 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979378	GRCh37/hg19 13q21.33(chr13:70413831-70716299)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 979376	GRCh37/hg19 13q21.32-21.33(chr13:68057602-71591979)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 816480	GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3	ATXN8OS, BORA +10 more	Copy number gain	See cases	GUncertain significance
Select item 815599	GRCh37/hg19 13q21.33(chr13:70661217-71473984)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 815598	GRCh37/hg19 13q21.33(chr13:70582077-70860305)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 815597	GRCh37/hg19 13q21.33(chr13:70128310-70318441)x1	KLHL1	Copy number loss	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 790680	NM_020866.3(KLHL1):c.372A>C (p.Ser124=)	KLHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 689286	GRCh37/hg19 13q21.33(chr13:70582007-71601997)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 688265	GRCh37/hg19 13q21.32-21.33(chr13:68155074-72073076)x1	ATXN8OS, DACH1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 685211	GRCh37/hg19 13q21.33(chr13:70607071-70705524)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564072	GRCh37/hg19 13q21.32-21.33(chr13:66407739-70705524)x3	ATXN8OS, KLHL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564070	GRCh37/hg19 13q21.32-21.33(chr13:68171169-70951761)x1	ATXN8OS, KLHL1	Copy number loss	not provided	GUncertain significance
Select item 564056	GRCh37/hg19 13q21.33(chr13:70450871-71676137)x3	ATXN8OS, KLHL1	Copy number gain	not provided	GUncertain significance
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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