"Ambry Genetics"[submitter] AND "KLHL38"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 provided +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 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 2408317	NM_001081675.3(KLHL38):c.540G>C (p.Leu180Phe)	KLHL38 (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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Items: 63