KLHL24[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 149403	GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3	ATP11B, B3GNT5 +55 more	Copy number gain	See cases	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 1222273	NM_017644.3(KLHL24):c.-61-147T>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288159	NM_017644.3(KLHL24):c.-61-79G>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432253	NM_017644.3(KLHL24):c.1A>T (p.Met1Leu)	KLHL24 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 264648	NM_017644.3(KLHL24):c.1A>G (p.Met1Val)	KLHL24 (M1V)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type +2 more	GPathogenic
Select item 370042	NM_017644.3(KLHL24):c.2T>C (p.Met1Thr)	KLHL24 (M1T)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 931095	NM_017644.3(KLHL24):c.3G>C (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GPathogenic
Select item 264647	NM_017644.3(KLHL24):c.3G>T (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 264646	NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 3115572	NM_017644.3(KLHL24):c.8T>C (p.Leu3Pro)	KLHL24 (L3P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1599275	NM_017644.3(KLHL24):c.13T>C (p.Leu5=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2515916	NM_017644.3(KLHL24):c.19C>T (p.Arg7Cys)	KLHL24 (R7C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613084	NM_017644.3(KLHL24):c.20G>A (p.Arg7His)	KLHL24 (R7H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3115568	NM_017644.3(KLHL24):c.50G>A (p.Arg17His)	KLHL24 (R17H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3354026	NM_017644.3(KLHL24):c.53A>G (p.Asp18Gly)	KLHL24 (D18G)	Single nucleotide variant (missense variant +2 more)	KLHL24-related disorder	GUncertain significance
Select item 2496145	NM_017644.3(KLHL24):c.71G>A (p.Arg24Gln)	KLHL24 (R24Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1302789	NM_017644.3(KLHL24):c.72A>T (p.Arg24=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2919801	NM_017644.3(KLHL24):c.147C>T (p.Ala49=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3115566	NM_017644.3(KLHL24):c.148G>A (p.Glu50Lys)	KLHL24 (E50K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605299	NM_017644.3(KLHL24):c.179G>A (p.Arg60His)	KLHL24 (R60H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522468	NM_017644.3(KLHL24):c.188G>A (p.Arg63His)	KLHL24 (R63H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3065341	NM_017644.3(KLHL24):c.367T>C (p.Tyr123His)	KLHL24 (Y123H)	Single nucleotide variant (missense variant +2 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GUncertain significance
Select item 3115567	NM_017644.3(KLHL24):c.383A>G (p.Lys128Arg)	KLHL24 (K128R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 450020	NM_017644.3(KLHL24):c.442A>G (p.Ile148Val)	KLHL24 (I148V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1600773	NM_017644.3(KLHL24):c.582T>A (p.Thr194=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1601787	NM_017644.3(KLHL24):c.590A>C (p.Asp197Ala)	KLHL24 (D197A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1261504	NM_017644.3(KLHL24):c.603C>T (p.His201=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3115569	NM_017644.3(KLHL24):c.604G>A (p.Glu202Lys)	KLHL24 (E202K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2589644	NM_017644.3(KLHL24):c.622G>C (p.Asp208His)	KLHL24 (D208H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3362750	NM_017644.3(KLHL24):c.661C>T (p.Leu221Phe)	KLHL24 (L221F)	Single nucleotide variant (missense variant +2 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GLikely pathogenic
Select item 3115570	NM_017644.3(KLHL24):c.668T>C (p.Ile223Thr)	KLHL24 (I223T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1241603	NM_017644.3(KLHL24):c.747C>T (p.His249=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3115571	NM_017644.3(KLHL24):c.763G>A (p.Val255Met)	KLHL24 (V255M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3362479	NM_017644.3(KLHL24):c.821T>C (p.Leu274Ser)	KLHL24 (L274S)	Single nucleotide variant (missense variant +2 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GUncertain significance
Select item 2475458	NM_017644.3(KLHL24):c.844T>C (p.Tyr282His)	KLHL24 (Y282H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1639405	NM_017644.3(KLHL24):c.846T>C (p.Tyr282=)	KLHL24	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2338477	NM_017644.3(KLHL24):c.857A>G (p.His286Arg)	KLHL24 (H286R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2443765	NM_017644.3(KLHL24):c.917G>A (p.Arg306His)	KLHL24 (R306H)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	GPathogenic
Select item 1226880	NM_017644.3(KLHL24):c.920+260A>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289731	NM_017644.3(KLHL24):c.921-262T>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268025	NM_017644.3(KLHL24):c.921-222G>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272692	NM_017644.3(KLHL24):c.921-173C>G	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443764	NM_017644.3(KLHL24):c.1048G>T (p.Glu350Ter)	KLHL24 (E350* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	GPathogenic
Select item 3041294	NM_017644.3(KLHL24):c.1105+10G>T	KLHL24	Single nucleotide variant (intron variant)	KLHL24-related disorder	GBenign
Select item 3023980	NM_017644.3(KLHL24):c.1158T>A (p.Ile386=)	KLHL24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603271	NM_017644.3(KLHL24):c.1167A>G (p.Arg389=)	KLHL24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505336	NM_017644.3(KLHL24):c.1196G>T (p.Arg399Leu)	KLHL24 (R118L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3288943	NM_017644.3(KLHL24):c.1210G>A (p.Val404Ile)	KLHL24 (V404I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684844	NM_017644.3(KLHL24):c.1216C>T (p.Leu406Phe)	KLHL24 (L125F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1616379	NM_017644.3(KLHL24):c.1224+10A>T	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079483	NM_017644.3(KLHL24):c.1224+17T>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266596	NM_017644.3(KLHL24):c.1225-296G>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1511821	NM_017644.3(KLHL24):c.1313C>T (p.Ala438Val)	KLHL24 (A157V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178771	NM_017644.3(KLHL24):c.1344A>G (p.Ala448=)	KLHL24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1286525	NM_017644.3(KLHL24):c.1414-158G>A	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295540	NM_017644.3(KLHL24):c.1414-54T>C	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3115564	NM_017644.3(KLHL24):c.1427A>G (p.Asp476Gly)	KLHL24 (D195G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2963731	NM_017644.3(KLHL24):c.1508T>A (p.Leu503Gln)	KLHL24 (L528Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2483681	NM_017644.3(KLHL24):c.1546T>C (p.Cys516Arg)	KLHL24 (C235R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394648	NM_017644.3(KLHL24):c.1558G>C (p.Val520Leu)	KLHL24 (V520L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2206770	NM_017644.3(KLHL24):c.1579G>A (p.Val527Ile)	KLHL24 (V246I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1271363	NM_017644.3(KLHL24):c.1602+146C>T	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222294	NM_017644.3(KLHL24):c.1603-163C>T	KLHL24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267182	NM_017644.3(KLHL24):c.1603-159_1603-158del	KLHL24	Deletion (intron variant)	not provided	GBenign
Select item 1237482	NM_017644.3(KLHL24):c.1603-153_1603-149del	KLHL24	Deletion (intron variant)	not provided	GBenign
Select item 3220917	NM_017644.3(KLHL24):c.1609T>A (p.Cys537Ser)	KLHL24 (C256S +2 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GUncertain significance
Select item 2880339	NM_017644.3(KLHL24):c.1623G>T (p.Val541=)	KLHL24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2459080	NM_017644.3(KLHL24):c.1658G>A (p.Arg553Gln)	KLHL24 (R553Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288944	NM_017644.3(KLHL24):c.1672G>A (p.Ala558Thr)	KLHL24 (A277T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395829	NM_017644.3(KLHL24):c.1684A>G (p.Ile562Val)	KLHL24 (I281V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048237	NM_017644.3(KLHL24):c.1702G>T (p.Ala568Ser)	KLHL24 (A287S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2965846	NM_017644.3(KLHL24):c.1741C>T (p.Pro581Ser)	KLHL24 (P300S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1178666	NM_017644.3(KLHL24):c.*159A>G	KLHL24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic

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