ClinVar for MedGen (Select 815539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236431	NM_152393.4(KLHL40):c.186del (p.Phe62_Leu63insTer)	KLHL40	Deletion (frameshift variant)	Nemaline myopathy 8	GLikely pathogenic
Select item 3068281	NM_152393.4(KLHL40):c.1755del	KLHL40	Deletion (splice acceptor variant)	Nemaline myopathy 8	GUncertain significance
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 2996040	NM_152393.4(KLHL40):c.1532G>A (p.Arg511His)	KLHL40 (R511H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2989009	NM_152393.4(KLHL40):c.1386C>T (p.Asp462=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2986777	NM_152393.4(KLHL40):c.1560C>T (p.Asp520=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2985571	NM_152393.4(KLHL40):c.1086C>T (p.Phe362=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2979933	NM_152393.4(KLHL40):c.729C>T (p.Leu243=)	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 2903499	NM_152393.4(KLHL40):c.1193T>G (p.Leu398Arg)	KLHL40 (L398R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2891369	NM_152393.4(KLHL40):c.1665G>T (p.Leu555=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2874169	NM_152393.4(KLHL40):c.654C>T (p.Pro218=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2857052	NM_152393.4(KLHL40):c.1734A>C (p.Thr578=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2848796	NM_152393.4(KLHL40):c.1702C>T (p.Leu568=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
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 2826151	NM_152393.4(KLHL40):c.1450dup (p.Asp484fs)	KLHL40 (D484fs)	Duplication (frameshift variant)	Nemaline myopathy 8	GPathogenic
Select item 2813759	NM_152393.4(KLHL40):c.1852C>T (p.Leu618=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2790947	NM_152393.4(KLHL40):c.1767G>A (p.Glu589=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	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 2746044	NM_152393.4(KLHL40):c.177G>A (p.Arg59=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2722915	NM_152393.4(KLHL40):c.435C>T (p.Cys145=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2722429	NM_152393.4(KLHL40):c.1713G>A (p.Glu571=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2703500	NM_152393.4(KLHL40):c.1783G>A (p.Gly595Ser)	KLHL40 (G595S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2703307	NM_152393.4(KLHL40):c.1608-1G>C	KLHL40	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 8	GPathogenic
Select item 2689319	NM_152393.4(KLHL40):c.460G>A (p.Asp154Asn)	KLHL40 (D154N)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2689318	NM_152393.4(KLHL40):c.632C>T (p.Ala211Val)	KLHL40 (A211V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	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 2573172	NM_152393.4(KLHL40):c.1305C>A (p.Tyr435Ter)	KLHL40 (Y435*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GLikely pathogenic
Select item 2433165	NM_152393.4(KLHL40):c.1327G>A (p.Gly443Ser)	KLHL40 (G443S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2433164	NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)	KLHL40	Deletion (inframe_deletion)	Nemaline myopathy 8	GUncertain significance
Select item 2427375	NC_000003.11:g.(?_42727111)_(42733485_?)dup	KLHL40	Duplication	Nemaline myopathy 8	GUncertain significance
Select item 2427374	NC_000003.11:g.(?_42733354)_(42733485_?)dup	KLHL40	Duplication	Nemaline myopathy 8	GUncertain significance
Select item 2415438	NM_152393.4(KLHL40):c.1668G>A (p.Val556=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2414400	NM_152393.4(KLHL40):c.605C>G (p.Ala202Gly)	KLHL40 (A202G)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2413452	NM_152393.4(KLHL40):c.981C>A (p.Gly327=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2198575	NM_152393.4(KLHL40):c.599G>T (p.Arg200Leu)	KLHL40 (R200L)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2197108	NM_152393.4(KLHL40):c.1494C>T (p.Thr498=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2191177	NM_152393.4(KLHL40):c.879G>A (p.Glu293=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
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 2185026	NM_152393.4(KLHL40):c.1727T>C (p.Val576Ala)	KLHL40 (V576A)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2180735	NM_152393.4(KLHL40):c.1814G>A (p.Gly605Asp)	KLHL40 (G605D)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2180504	NM_152393.4(KLHL40):c.1152+1G>A	KLHL40	Single nucleotide variant (splice donor variant)	Nemaline myopathy 8	GLikely pathogenic
Select item 2179419	NM_152393.4(KLHL40):c.709C>T (p.Arg237Cys)	KLHL40 (R237C)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2176697	NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)	KLHL40 (S431*)	Single nucleotide variant (nonsense)	Nemaline myopathy 8	GPathogenic
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 2164791	NM_152393.4(KLHL40):c.1016A>G (p.Tyr339Cys)	KLHL40 (Y339C)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2157953	NM_152393.4(KLHL40):c.1834C>T (p.Arg612Trp)	KLHL40 (R612W)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
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 2131253	NM_152393.4(KLHL40):c.221T>C (p.Leu74Pro)	KLHL40 (L74P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
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 2117571	NM_152393.4(KLHL40):c.1513G>A (p.Ala505Thr)	KLHL40 (A505T)	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 2112453	NM_152393.4(KLHL40):c.1447T>C (p.Tyr483His)	KLHL40 (Y483H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2106780	NM_152393.4(KLHL40):c.439C>A (p.Arg147Ser)	KLHL40 (R147S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2100749	NM_152393.4(KLHL40):c.1057A>C (p.Ser353Arg)	KLHL40 (S353R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2090986	NM_152393.4(KLHL40):c.780A>C (p.Ala260=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2087355	NM_152393.4(KLHL40):c.901A>G (p.Ile301Val)	KLHL40 (I301V)	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 2080108	NM_152393.4(KLHL40):c.1041C>T (p.Val347=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2072128	NM_152393.4(KLHL40):c.768G>C (p.Met256Ile)	KLHL40 (M256I)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2069963	NM_152393.4(KLHL40):c.601T>C (p.Trp201Arg)	KLHL40 (W201R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2062001	NM_152393.4(KLHL40):c.1280G>A (p.Arg427His)	KLHL40 (R427H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2050311	NM_152393.4(KLHL40):c.1110C>G (p.Asn370Lys)	KLHL40 (N370K)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 2045908	NM_152393.4(KLHL40):c.1317A>G (p.Ser439=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2044894	NM_152393.4(KLHL40):c.1458G>A (p.Lys486=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2044057	NM_152393.4(KLHL40):c.1313+10G>A	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8	GLikely benign
Select item 2043179	NM_152393.4(KLHL40):c.1341G>T (p.Pro447=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2040905	NM_152393.4(KLHL40):c.1173G>A (p.Glu391=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2035297	NM_152393.4(KLHL40):c.720C>T (p.Arg240=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 2012838	NM_152393.4(KLHL40):c.755_757del (p.Arg252_Lys253delinsGln)	KLHL40	Deletion (inframe_indel)	Nemaline myopathy 8	GUncertain significance
Select item 2012186	NM_152393.4(KLHL40):c.1275C>G (p.Gly425=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
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 1998504	NM_152393.4(KLHL40):c.458G>A (p.Arg153His)	KLHL40 (R153H)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
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 1991029	NM_152393.4(KLHL40):c.1444G>A (p.Val482Ile)	KLHL40 (V482I)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1988356	NM_152393.4(KLHL40):c.1607+13G>A	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8	GLikely benign
Select item 1986051	NM_152393.4(KLHL40):c.1755G>A (p.Arg585=)	KLHL40	Single nucleotide variant (synonymous 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 1974822	NM_152393.4(KLHL40):c.1219C>T (p.Leu407=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1973784	NM_152393.4(KLHL40):c.1231C>A (p.Leu411Ile)	KLHL40 (L411I)	Single nucleotide variant (missense 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 1968585	NM_152393.4(KLHL40):c.344C>A (p.Ser115Tyr)	KLHL40 (S115Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1966565	NM_152393.4(KLHL40):c.1607A>G (p.Lys536Arg)	KLHL40 (K536R)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1947279	NM_152393.4(KLHL40):c.480C>T (p.Phe160=)	KLHL40	Single nucleotide variant (synonymous variant)	Nemaline myopathy 8	GLikely benign
Select item 1939928	NM_152393.4(KLHL40):c.799A>T (p.Thr267Ser)	KLHL40 (T267S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1936543	NM_152393.4(KLHL40):c.1315T>A (p.Ser439Thr)	KLHL40 (S439T)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1936434	NM_152393.4(KLHL40):c.1608-17T>G	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8	GLikely benign
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 1927887	NM_152393.4(KLHL40):c.619G>C (p.Ala207Pro)	KLHL40 (A207P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
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 1915011	NM_152393.4(KLHL40):c.1823T>C (p.Phe608Ser)	KLHL40 (F608S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1904547	NM_152393.4(KLHL40):c.1755-16T>A	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8	GLikely benign
Select item 1902529	NM_152393.4(KLHL40):c.1279C>A (p.Arg427Ser)	KLHL40 (R427S)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1900856	NM_152393.4(KLHL40):c.1607+17C>T	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8	GLikely benign
Select item 1897185	NM_152393.4(KLHL40):c.1754+17G>A	KLHL40	Single nucleotide variant (intron variant)	Nemaline myopathy 8	GLikely benign
Select item 1896853	NM_152393.4(KLHL40):c.1547C>T (p.Ala516Val)	KLHL40 (A516V)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1716553	NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro)	KLHL40 (R240P)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1713677	NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr)	KLHL40 (S525T)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance
Select item 1713637	NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly)	KLHL40 (R213G)	Single nucleotide variant (missense variant)	Nemaline myopathy 8	GUncertain significance

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