KLHL40[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 506

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683981	NM_152393.3(KLHL40):c.-393G>A	KLHL40	Single nucleotide variant	not provided	GBenign
Select item 678403	NM_152393.3(KLHL40):c.-279G>A	KLHL40	Single nucleotide variant	not provided	GLikely benign
Select item 511677	NM_152393.4(KLHL40):c.-14C>G	KLHL40	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2768064	NM_152393.4(KLHL40):c.6G>T (p.Ala2=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2139767	NM_152393.4(KLHL40):c.13T>C (p.Leu5=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1506757	NM_152393.4(KLHL40):c.22_33del (p.Ala8_Gln11del)	KLHL40	Deletion (inframe_deletion)	Nemaline myopathy 8	GUncertain significance
Select item 2312499	NM_152393.4(KLHL40):c.16G>A (p.Glu6Lys)	KLHL40 (E6K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 972585	NM_152393.4(KLHL40):c.22G>A (p.Ala8Thr)	KLHL40 (A8T)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2084280	NM_152393.4(KLHL40):c.23C>T (p.Ala8Val)	KLHL40 (A8V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 804436	NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter)	KLHL40 (E9*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GLikely pathogenic
Select item 1355111	NM_152393.4(KLHL40):c.35G>C (p.Arg12Pro)	KLHL40 (R12P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 3115756	NM_152393.4(KLHL40):c.49A>G (p.Thr17Ala)	KLHL40 (T17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1489369	NM_152393.4(KLHL40):c.52C>G (p.Leu18Val)	KLHL40 (L18V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1388572	NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter)	KLHL40 (Q20*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GPathogenic
Select item 1587985	NM_152393.4(KLHL40):c.63C>T (p.Asp21=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1924683	NM_152393.4(KLHL40):c.77T>G (p.Met26Arg)	KLHL40 (M26R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 474338	NM_152393.4(KLHL40):c.81G>A (p.Leu27=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 858614	NM_152393.4(KLHL40):c.85C>T (p.His29Tyr)	KLHL40 (H29Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 954186	NM_152393.4(KLHL40):c.86A>G (p.His29Arg)	KLHL40 (H29R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 578842	NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser)	KLHL40 (G30S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +1 more	GUncertain significance
Select item 2170992	NM_152393.4(KLHL40):c.93G>T (p.Lys31Asn)	KLHL40 (K31N)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 474340	NM_152393.4(KLHL40):c.97C>T (p.Leu33Phe)	KLHL40 (L33F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1137332	NM_152393.4(KLHL40):c.99C>T (p.Leu33=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 640377	NM_152393.4(KLHL40):c.100G>C (p.Asp34His)	KLHL40 (D34H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GConflicting classifications of pathogenicity
Select item 1497634	NM_152393.4(KLHL40):c.104G>A (p.Cys35Tyr)	KLHL40 (C35Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 763875	NM_152393.4(KLHL40):c.105T>C (p.Cys35=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 649408	NM_152393.4(KLHL40):c.108G>A (p.Val36=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1358454	NM_152393.4(KLHL40):c.117G>A (p.Ala39=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 642829	NM_152393.4(KLHL40):c.119G>A (p.Gly40Asp)	KLHL40 (G40D)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1413197	NM_152393.4(KLHL40):c.124C>A (p.Arg42Ser)	KLHL40 (R42S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1517939	NM_152393.4(KLHL40):c.125G>T (p.Arg42Leu)	KLHL40 (R42L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 651143	NM_152393.4(KLHL40):c.125G>A (p.Arg42His)	KLHL40 (R42H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2827440	NM_152393.4(KLHL40):c.135G>C (p.Pro45=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 845112	NM_152393.4(KLHL40):c.140A>T (p.His47Leu)	KLHL40 (H47L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 739977	NM_152393.4(KLHL40):c.144C>G (p.Arg48=)	KLHL40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398142	NM_152393.4(KLHL40):c.148G>T (p.Val50Leu)	KLHL40 (V50L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 956865	NM_152393.4(KLHL40):c.148G>A (p.Val50Met)	KLHL40 (V50M)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 845113	NM_152393.4(KLHL40):c.164G>A (p.Ser55Asn)	KLHL40 (S55N)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1454686	NM_152393.4(KLHL40):c.173del (p.Phe58fs)	KLHL40 (F58fs)	Deletion (frameshift variant)	Nemaline myopathy 8	GPathogenic
Select item 807621	NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro)	KLHL40 (R59P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GLikely pathogenic
Select item 2746044	NM_152393.4(KLHL40):c.177G>A (p.Arg59=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1007773	NM_152393.4(KLHL40):c.182G>A (p.Arg61His)	KLHL40 (R61H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3236431	NM_152393.4(KLHL40):c.186del (p.Phe62_Leu63insTer)	KLHL40	Deletion (frameshift variant)	Nemaline myopathy 8	GLikely pathogenic
Select item 474334	NM_152393.4(KLHL40):c.187C>T (p.Leu63=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1650180	NM_152393.4(KLHL40):c.189A>G (p.Leu63=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1995861	NM_152393.4(KLHL40):c.192C>G (p.Ala64=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1350157	NM_152393.4(KLHL40):c.193G>A (p.Glu65Lys)	KLHL40 (E65K)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1391112	NM_152393.4(KLHL40):c.197C>T (p.Pro66Leu)	KLHL40 (P66L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 541332	NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg)	KLHL40 (P66R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1458028	NM_152393.4(KLHL40):c.205_214del (p.Ala69fs)	KLHL40 (A69fs)	Deletion (frameshift variant)	Nemaline myopathy 8	GPathogenic
Select item 3005462	NM_152393.4(KLHL40):c.207G>C (p.Ala69=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1556732	NM_152393.4(KLHL40):c.207G>A (p.Ala69=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1044742	NM_152393.4(KLHL40):c.211G>A (p.Glu71Lys)	KLHL40 (E71K)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 961304	NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter)	KLHL40 (E71*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GPathogenic
Select item 2131253	NM_152393.4(KLHL40):c.221T>C (p.Leu74Pro)	KLHL40 (L74P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2113656	NM_152393.4(KLHL40):c.222G>A (p.Leu74=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1405293	NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter)	KLHL40 (E75*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GPathogenic
Select item 1584634	NM_152393.4(KLHL40):c.225G>A (p.Glu75=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1673753	NM_152393.4(KLHL40):c.231G>A (p.Val77=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 998848	NM_152393.4(KLHL40):c.236C>T (p.Pro79Leu)	KLHL40 (P79L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 639447	NM_152393.4(KLHL40):c.238G>C (p.Asp80His)	KLHL40 (D80H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +2 more	GConflicting classifications of pathogenicity
Select item 1493227	NM_152393.4(KLHL40):c.248C>T (p.Ala83Val)	KLHL40 (A83V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1408374	NM_152393.4(KLHL40):c.248C>G (p.Ala83Gly)	KLHL40 (A83G)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1036142	NM_152393.4(KLHL40):c.251A>G (p.Gln84Arg)	KLHL40 (Q84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2576958	NM_152393.4(KLHL40):c.270C>G (p.Tyr90Ter)	KLHL40 (Y90*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GPathogenic
Select item 2189114	NM_152393.4(KLHL40):c.270C>T (p.Tyr90=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 949568	NM_152393.4(KLHL40):c.273A>G (p.Thr91=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GUncertain significance
Select item 1971874	NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)	KLHL40 (S92*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GPathogenic
Select item 380952	NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln)	KLHL40 (E93Q)	Single nucleotide variant (missense variant)	KLHL40-related disorder +2 more	GBenign/Likely benign
Select item 1309520	NM_152393.4(KLHL40):c.284C>A (p.Ala95Glu)	KLHL40 (A95E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934123	NM_152393.4(KLHL40):c.288G>A (p.Leu96=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2125137	NM_152393.4(KLHL40):c.289G>T (p.Asp97Tyr)	KLHL40 (D97Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1381347	NM_152393.4(KLHL40):c.295G>A (p.Ala99Thr)	KLHL40 (A99T)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1034564	NM_152393.4(KLHL40):c.296C>T (p.Ala99Val)	KLHL40 (A99V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1347203	NM_152393.4(KLHL40):c.300C>A (p.Ser100Arg)	KLHL40 (S100R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1095793	NM_152393.4(KLHL40):c.303G>A (p.Val101=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2967417	NM_152393.4(KLHL40):c.321G>A (p.Ala107=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 262644	NM_152393.4(KLHL40):c.324A>G (p.Ala108=)	KLHL40	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2257529	NM_152393.4(KLHL40):c.340C>T (p.Pro114Ser)	KLHL40 (P114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396663	NM_152393.4(KLHL40):c.341C>T (p.Pro114Leu)	KLHL40 (P114L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1968585	NM_152393.4(KLHL40):c.344C>A (p.Ser115Tyr)	KLHL40 (S115Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 661064	NM_152393.4(KLHL40):c.344C>T (p.Ser115Phe)	KLHL40 (S115F)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1116332	NM_152393.4(KLHL40):c.348C>A (p.Ile116=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1406191	NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile)	KLHL40 (T118I)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1980533	NM_152393.4(KLHL40):c.354C>G (p.Thr118=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1061045	NM_152393.4(KLHL40):c.355A>G (p.Ile119Val)	KLHL40 (I119V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +2 more	GUncertain significance
Select item 2006560	NM_152393.4(KLHL40):c.359G>C (p.Cys120Ser)	KLHL40 (C120S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 940130	NM_152393.4(KLHL40):c.361G>C (p.Val121Leu)	KLHL40 (V121L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 952136	NM_152393.4(KLHL40):c.379C>T (p.Arg127Cys)	KLHL40 (R127C)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 859109	NM_152393.4(KLHL40):c.385T>G (p.Cys129Gly)	KLHL40 (C129G)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 961426	NM_152393.4(KLHL40):c.386G>C (p.Cys129Ser)	KLHL40 (C129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360141	NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe)	KLHL40 (L130F)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 579724	NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser)	KLHL40 (N132S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1492166	NM_152393.4(KLHL40):c.412C>T (p.Arg138Cys)	KLHL40 (R138C)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +1 more	GUncertain significance
Select item 474335	NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro)	KLHL40 (R138P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +2 more	GUncertain significance
Select item 642688	NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro)	KLHL40 (L139P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2052436	NM_152393.4(KLHL40):c.419G>C (p.Gly140Ala)	KLHL40 (G140A)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1313746	NM_152393.4(KLHL40):c.427C>T (p.Leu143Phe)	KLHL40 (L143F)	Single nucleotide variant (missense variant)	Nemaline myopathy 8 +2 more	GUncertain significance
Select item 1308357	NM_152393.4(KLHL40):c.430G>C (p.Asp144His)	KLHL40 (D144H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468992	NM_152393.4(KLHL40):c.433T>A (p.Cys145Ser)	KLHL40 (C145S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance

<< First< Prev

Page of 6