KLHL24[gene] and "single gene"[properties] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 6, generalized, with scarring and hair loss +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 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 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 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)	KLHL24-related disorder +1 more	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 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)	Inborn genetic diseases +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 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)	not provided +2 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 2443767	KLHL24, 1A-T	KLHL24	Single nucleotide variant	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GPathogenic
Select item 2443766	KLHL24, 2T-G	KLHL24	Single nucleotide variant	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	GPathogenic

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Items: 69