KLHL38[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 2380684	NM_001081675.3(KLHL38):c.1726C>T (p.Arg576Cys)	KLHL38 (R576C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464560	NM_001081675.3(KLHL38):c.1621G>A (p.Ala541Thr)	KLHL38 (A541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115741	NM_001081675.3(KLHL38):c.1615G>A (p.Asp539Asn)	KLHL38 (D539N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289027	NM_001081675.3(KLHL38):c.1598C>T (p.Thr533Met)	KLHL38 (T533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548114	NM_001081675.3(KLHL38):c.1589G>A (p.Arg530Gln)	KLHL38 (R530Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205992	NM_001081675.3(KLHL38):c.1588C>T (p.Arg530Trp)	KLHL38 (R530W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2397605	NM_001081675.3(KLHL38):c.1573G>A (p.Val525Met)	KLHL38 (V525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345121	NM_001081675.3(KLHL38):c.1532G>T (p.Arg511Met)	KLHL38 (R511M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508249	NM_001081675.3(KLHL38):c.1486C>A (p.Pro496Thr)	KLHL38 (P496T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550281	NM_001081675.3(KLHL38):c.1438C>T (p.Arg480Trp)	KLHL38 (R480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289026	NM_001081675.3(KLHL38):c.1398G>T (p.Met466Ile)	KLHL38 (M466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607619	NM_001081675.3(KLHL38):c.1384A>C (p.Met462Leu)	KLHL38 (M462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615632	NM_001081675.3(KLHL38):c.1333C>T (p.Pro445Ser)	KLHL38 (P445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205128	NM_001081675.3(KLHL38):c.1310G>A (p.Gly437Glu)	KLHL38 (G437E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294119	NM_001081675.3(KLHL38):c.1300T>C (p.Tyr434His)	KLHL38 (Y434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115739	NM_001081675.3(KLHL38):c.1287A>T (p.Lys429Asn)	KLHL38 (K429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115738	NM_001081675.3(KLHL38):c.1279G>A (p.Ala427Thr)	KLHL38 (A427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530265	NM_001081675.3(KLHL38):c.1279G>T (p.Ala427Ser)	KLHL38 (A427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115737	NM_001081675.3(KLHL38):c.1236G>T (p.Glu412Asp)	KLHL38 (E412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218774	NM_001081675.3(KLHL38):c.1222T>C (p.Cys408Arg)	KLHL38 (C408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379859	NM_001081675.3(KLHL38):c.1218C>A (p.Ser406Arg)	KLHL38 (S406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299870	NM_001081675.3(KLHL38):c.1195G>A (p.Gly399Ser)	KLHL38 (G399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608282	NM_001081675.3(KLHL38):c.1186G>C (p.Glu396Gln)	KLHL38 (E396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245653	NM_001081675.3(KLHL38):c.1180G>C (p.Gly394Arg)	KLHL38 (G394R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346881	NM_001081675.3(KLHL38):c.1172T>C (p.Ile391Thr)	KLHL38 (I391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115735	NM_001081675.3(KLHL38):c.1165G>A (p.Gly389Arg)	KLHL38 (G389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115734	NM_001081675.3(KLHL38):c.1156T>C (p.Phe386Leu)	KLHL38 (F386L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306594	NM_001081675.3(KLHL38):c.1117C>T (p.Arg373Cys)	KLHL38 (R373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476382	NM_001081675.3(KLHL38):c.1099G>A (p.Glu367Lys)	KLHL38 (E367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232810	NM_001081675.3(KLHL38):c.1068C>G (p.Phe356Leu)	KLHL38 (F356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365232	NM_001081675.3(KLHL38):c.1045G>C (p.Val349Leu)	KLHL38 (V349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563899	NM_001081675.3(KLHL38):c.995G>A (p.Arg332His)	KLHL38 (R332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115747	NM_001081675.3(KLHL38):c.982A>G (p.Ile328Val)	KLHL38 (I328V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115746	NM_001081675.3(KLHL38):c.926C>A (p.Thr309Asn)	KLHL38 (T309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228752	NM_001081675.3(KLHL38):c.904G>A (p.Val302Ile)	KLHL38 (V302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115745	NM_001081675.3(KLHL38):c.776T>C (p.Met259Thr)	KLHL38 (M259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268635	NM_001081675.3(KLHL38):c.763G>A (p.Ala255Thr)	KLHL38 (A255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363457	NM_001081675.3(KLHL38):c.719C>A (p.Ala240Asp)	KLHL38 (A240D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289022	NM_001081675.3(KLHL38):c.713A>G (p.Asn238Ser)	KLHL38 (N238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544846	NM_001081675.3(KLHL38):c.709G>C (p.Ala237Pro)	KLHL38 (A237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484578	NM_001081675.3(KLHL38):c.706A>G (p.Ile236Val)	KLHL38 (I236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312378	NM_001081675.3(KLHL38):c.700C>T (p.His234Tyr)	KLHL38 (H234Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784140	NM_001081675.3(KLHL38):c.595G>A (p.Ala199Thr)	KLHL38 (A199T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2408317	NM_001081675.3(KLHL38):c.540G>C (p.Leu180Phe)	KLHL38 (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776383	NM_001081675.3(KLHL38):c.510C>T (p.Ala170=)	KLHL38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790613	NM_001081675.3(KLHL38):c.459G>A (p.Lys153=)	KLHL38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2612212	NM_001081675.3(KLHL38):c.454A>G (p.Lys152Glu)	KLHL38 (K152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397183	NM_001081675.3(KLHL38):c.448A>G (p.Thr150Ala)	KLHL38 (T150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115744	NM_001081675.3(KLHL38):c.419T>C (p.Ile140Thr)	KLHL38 (I140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289021	NM_001081675.3(KLHL38):c.403A>C (p.Asn135His)	KLHL38 (N135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115743	NM_001081675.3(KLHL38):c.395C>T (p.Ala132Val)	KLHL38 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289025	NM_001081675.3(KLHL38):c.388C>A (p.Gln130Lys)	KLHL38 (Q130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478057	NM_001081675.3(KLHL38):c.369C>G (p.Cys123Trp)	KLHL38 (C123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484484	NM_001081675.3(KLHL38):c.367T>C (p.Cys123Arg)	KLHL38 (C123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381742	NM_001081675.3(KLHL38):c.331G>A (p.Ala111Thr)	KLHL38 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354004	NM_001081675.3(KLHL38):c.307A>G (p.Asn103Asp)	KLHL38 (N103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347518	NM_001081675.3(KLHL38):c.274G>A (p.Val92Met)	KLHL38 (V92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289020	NM_001081675.3(KLHL38):c.265G>A (p.Val89Ile)	KLHL38 (V89I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611168	NM_001081675.3(KLHL38):c.257A>G (p.Asp86Gly)	KLHL38 (D86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300965	NM_001081675.3(KLHL38):c.250A>G (p.Thr84Ala)	KLHL38 (T84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470914	NM_001081675.3(KLHL38):c.244C>G (p.Pro82Ala)	KLHL38 (P82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289024	NM_001081675.3(KLHL38):c.235G>A (p.Gly79Ser)	KLHL38 (G79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115742	NM_001081675.3(KLHL38):c.203G>A (p.Arg68Gln)	KLHL38 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259367	NM_001081675.3(KLHL38):c.145C>A (p.Arg49Ser)	KLHL38 (R49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280051	NM_001081675.3(KLHL38):c.121G>A (p.Gly41Ser)	KLHL38 (G41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610485	NM_001081675.3(KLHL38):c.112A>G (p.Ile38Val)	KLHL38 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399915	NM_001081675.3(KLHL38):c.40C>G (p.His14Asp)	KLHL38 (H14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2425276	NC_000008.10:g.(?_124545411)_(125559374_?)dup	TATDN1, TMEM65 +8 more	Duplication	not provided	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic

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