10324[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 259913	NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe)	KLHL41 (S3F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1415101	NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln)	KLHL41 (R5Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 474866	NM_006063.3(KLHL41):c.15G>A (p.Arg5=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1035863	NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr)	KLHL41 (A8T)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 3115758	NM_006063.3(KLHL41):c.23C>T (p.Ala8Val)	KLHL41 (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022643	NM_006063.3(KLHL41):c.33G>C (p.Leu11=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2185775	NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)	KLHL41 (T17S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2146844	NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)	KLHL41 (L18F)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2069133	NM_006063.3(KLHL41):c.61G>C (p.Asp21His)	KLHL41 (D21H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1479763	NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala)	KLHL41 (G22A)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2116034	NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)	KLHL41 (D25N)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2090506	NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)	KLHL41 (D25Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1919296	NM_006063.3(KLHL41):c.78C>G (p.Leu26=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 817308	NM_006063.3(KLHL41):c.83_107delinsTGTCA (p.Asp28fs)	KLHL41 (D28fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2075292	NM_006063.3(KLHL41):c.99C>T (p.Ile33=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1417397	NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly)	KLHL41 (D34G)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 792601	NM_006063.3(KLHL41):c.102T>C (p.Asp34=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1929913	NM_006063.3(KLHL41):c.135T>C (p.Pro45=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2097438	NM_006063.3(KLHL41):c.145T>C (p.Leu49=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 859683	NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser)	KLHL41 (L49S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2556949	NM_006063.3(KLHL41):c.153G>T (p.Leu51Phe)	KLHL41 (L51F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982923	NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)	KLHL41 (S52fs)	Deletion (frameshift variant)	Nemaline myopathy 9	GPathogenic
Select item 581470	NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer)	KLHL41	Deletion (frameshift variant)	Nemaline myopathy 9	GPathogenic
Select item 934936	NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser)	KLHL41 (Y57S)	Indel (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 474868	NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys)	KLHL41 (R59C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1420685	NM_006063.3(KLHL41):c.176G>A (p.Arg59His)	KLHL41 (R59H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 1030070	NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro)	KLHL41 (R59P)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1034834	NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys)	KLHL41 (E65K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474869	NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr)	KLHL41 (I66T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1408193	NM_006063.3(KLHL41):c.199G>C (p.Asp67His)	KLHL41 (D67H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2847086	NM_006063.3(KLHL41):c.201T>C (p.Asp67=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1311677	NM_006063.3(KLHL41):c.206C>T (p.Ala69Val)	KLHL41 (A69V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 755944	NM_006063.3(KLHL41):c.207G>A (p.Ala69=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 566091	NM_006063.3(KLHL41):c.215dup (p.Glu73fs)	KLHL41 (E73fs)	Duplication (frameshift variant)	Nemaline myopathy 9	GPathogenic
Select item 1324627	NM_006063.3(KLHL41):c.215del (p.Lys72fs)	KLHL41 (K72fs)	Deletion (frameshift variant)	Nemaline myopathy 9	GPathogenic/Likely pathogenic
Select item 1051618	NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu)	KLHL41 (K70E)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 1431496	NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile)	KLHL41 (K70I)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1917402	NM_006063.3(KLHL41):c.223G>A (p.Val75Met)	KLHL41 (V75M)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1464812	NM_006063.3(KLHL41):c.229G>C (p.Asp77His)	KLHL41 (D77H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2157023	NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)	KLHL41 (N78S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1978517	NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)	KLHL41 (P81S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1952456	NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)	KLHL41 (K89R)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1603136	NM_006063.3(KLHL41):c.273G>T (p.Leu91=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1155904	NM_006063.3(KLHL41):c.273G>A (p.Leu91=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2731805	NM_006063.3(KLHL41):c.276C>T (p.Tyr92=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1335417	NM_006063.3(KLHL41):c.282C>T (p.Ala94=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610147	NM_006063.3(KLHL41):c.289G>A (p.Asp97Asn)	KLHL41 (D97N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474870	NM_006063.3(KLHL41):c.291T>C (p.Asp97=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 3115759	NM_006063.3(KLHL41):c.296A>G (p.Asn99Ser)	KLHL41 (N99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1531718	NM_006063.3(KLHL41):c.300C>T (p.Asp100=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2111827	NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)	KLHL41 (D105G)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1011255	NM_006063.3(KLHL41):c.318T>G (p.Ile106Met)	KLHL41 (I106M)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2046677	NM_006063.3(KLHL41):c.335G>A (p.Arg112His)	KLHL41 (R112H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 707104	NM_006063.3(KLHL41):c.366C>T (p.Cys122=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2010482	NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)	KLHL41 (L126V)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1400954	NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr)	KLHL41 (A131T)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 474871	NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp)	KLHL41 (G133D)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GBenign/Likely benign
Select item 795490	NM_006063.3(KLHL41):c.408A>G (p.Leu136=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2689320	NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)	KLHL41 (L143F)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 474872	NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del)	KLHL41 (L145del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2153761	NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)	KLHL41 (L144P)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2988073	NM_006063.3(KLHL41):c.432T>C (p.Leu144=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 665319	NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala)	KLHL41 (D146A)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 572226	NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu)	KLHL41 (P148L)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2920468	NM_006063.3(KLHL41):c.450C>T (p.Leu150=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2190200	NM_006063.3(KLHL41):c.453C>A (p.Ala151=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1595725	NM_006063.3(KLHL41):c.456T>C (p.Ile152=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1371920	NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr)	KLHL41 (S153Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 183241	NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu)	KLHL41	Indel (inframe_insertion)	Nemaline myopathy 9	GPathogenic
Select item 1922584	NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)	KLHL41 (R155C)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 2051459	NM_006063.3(KLHL41):c.464G>A (p.Arg155His)	KLHL41 (R155H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2065093	NM_006063.3(KLHL41):c.468dup (p.Phe157fs)	KLHL41 (F157fs)	Duplication (frameshift variant)	Nemaline myopathy 9	GPathogenic
Select item 2109307	NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)	KLHL41 (I165M)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 955852	NM_006063.3(KLHL41):c.519A>T (p.Gln173His)	KLHL41 (Q173H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 541710	NM_006063.3(KLHL41):c.519A>G (p.Gln173=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1059098	NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys)	KLHL41 (S175C)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1486785	NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro)	KLHL41 (Q177P)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 1335418	NM_006063.3(KLHL41):c.534A>G (p.Glu178=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079873	NM_006063.3(KLHL41):c.535C>T (p.Leu179=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2191835	NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)	KLHL41 (I180N)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2056481	NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)	KLHL41 (D186E)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 183244	NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del)	KLHL41 (E194del)	Microsatellite (inframe_deletion)	Nemaline myopathy 9	GPathogenic
Select item 953084	NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala)	KLHL41 (E194A)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2733387	NM_006063.3(KLHL41):c.612G>A (p.Val204=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 474873	NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln)	KLHL41 (R205Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 945042	NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly)	KLHL41 (R211G)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 3115760	NM_006063.3(KLHL41):c.633G>T (p.Arg211Ser)	KLHL41 (R211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 183243	NM_006063.3(KLHL41):c.641del (p.Asn214fs)	KLHL41 (N214fs)	Deletion (frameshift variant)	Nemaline myopathy +1 more	GPathogenic/Likely pathogenic
Select item 1006388	NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys)	KLHL41 (N214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474874	NM_006063.3(KLHL41):c.652G>A (p.Val218Met)	KLHL41 (V218M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1105589	NM_006063.3(KLHL41):c.657T>C (p.Phe219=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1472289	NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser)	KLHL41 (C221S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1465145	NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys)	KLHL41 (R223C)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GLikely pathogenic
Select item 695017	NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser)	KLHL41 (R223S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance

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