ClinVar for Gene (Select 10324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
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 3017995	NM_006063.3(KLHL41):c.1110+17G>A	KLHL41	Single nucleotide variant (intron variant)	Nemaline myopathy 9	GLikely benign
Select item 3012084	NM_006063.3(KLHL41):c.945G>A (p.Val315=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
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 2976070	NM_006063.3(KLHL41):c.1111-11G>A	KLHL41	Single nucleotide variant (intron variant)	Nemaline myopathy 9	GLikely benign
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 2913876	NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)	KLHL41 (Y438C)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2901165	NM_006063.3(KLHL41):c.1173C>T (p.Phe391=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2873424	NM_006063.3(KLHL41):c.1561_1562+2del	KLHL41	Deletion (splice donor variant)	Nemaline myopathy 9	GLikely pathogenic
Select item 2856559	NM_006063.3(KLHL41):c.771T>C (p.Asp257=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
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 2815530	NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)	KLHL41 (W475*)	Single nucleotide variant (nonsense)	Nemaline myopathy 9	GPathogenic
Select item 2788199	NM_006063.3(KLHL41):c.1191T>C (p.Asp397=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2759480	NM_006063.3(KLHL41):c.1560T>C (p.Asn520=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2744765	NM_006063.3(KLHL41):c.1038G>A (p.Gln346=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
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 2731805	NM_006063.3(KLHL41):c.276C>T (p.Tyr92=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2730302	NM_006063.3(KLHL41):c.1111-4del	KLHL41	Deletion (intron variant)	Nemaline myopathy 9	GBenign
Select item 2705560	NM_006063.3(KLHL41):c.801C>T (p.Ser267=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2689321	NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)	KLHL41 (E556K)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
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 2619657	NM_006063.3(KLHL41):c.1335T>A (p.His445Gln)	KLHL41 (H445Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2556949	NM_006063.3(KLHL41):c.153G>T (p.Leu51Phe)	KLHL41 (L51F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531446	NM_006063.3(KLHL41):c.805A>C (p.Asn269His)	KLHL41 (N269H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460296	NM_006063.3(KLHL41):c.1025C>G (p.Thr342Ser)	KLHL41 (T342S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445984	NM_006063.3(KLHL41):c.881_890del (p.Asp294fs)	KLHL41 (D294fs)	Deletion (frameshift variant)	Nemaline myopathy 9	GLikely pathogenic
Select item 2433166	NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)	KLHL41 (L478V)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2427372	NC_000002.11:g.(?_170344296)_(170382206_?)dup	BBS5, KLHL41	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2418857	NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)	KLHL41 (G352V)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2365130	NM_006063.3(KLHL41):c.1192G>A (p.Asp398Asn)	KLHL41 (D398N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318011	NM_006063.3(KLHL41):c.1187T>G (p.Val396Gly)	KLHL41 (V396G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307007	NM_006063.3(KLHL41):c.1285G>A (p.Glu429Lys)	KLHL41 (E429K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250228	NM_006063.3(KLHL41):c.680T>C (p.Met227Thr)	KLHL41 (M227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249750	NM_006063.3(KLHL41):c.898A>G (p.Met300Val)	KLHL41 (M300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226274	NM_006063.3(KLHL41):c.799A>T (p.Ser267Cys)	KLHL41 (S267C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196703	NM_006063.3(KLHL41):c.1110+7A>G	KLHL41	Single nucleotide variant (intron variant)	Nemaline myopathy 9	GLikely benign
Select item 2195299	NM_006063.3(KLHL41):c.1113C>T (p.Leu371=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2195002	NM_006063.3(KLHL41):c.1764T>C (p.Ala588=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2194440	NM_006063.3(KLHL41):c.1605C>A (p.Ile535=)	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 2190200	NM_006063.3(KLHL41):c.453C>A (p.Ala151=)	KLHL41	Single nucleotide variant (synonymous variant)	not provided +1 more	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 2183013	NM_006063.3(KLHL41):c.1376+15C>T	KLHL41	Single nucleotide variant (intron variant)	Nemaline myopathy 9	GLikely benign
Select item 2176700	NM_006063.3(KLHL41):c.897A>C (p.Gly299=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2165394	NM_006063.3(KLHL41):c.1662A>G (p.Gln554=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2163592	NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)	KLHL41 (T312I)	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 2153761	NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)	KLHL41 (L144P)	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 2143759	NM_006063.3(KLHL41):c.1110+10A>G	KLHL41	Single nucleotide variant (intron variant)	Nemaline myopathy 9	GLikely benign
Select item 2136469	NM_006063.3(KLHL41):c.1668G>A (p.Glu556=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 2131570	NM_006063.3(KLHL41):c.1111-19T>A	KLHL41	Single nucleotide variant (intron variant)	Nemaline myopathy 9	GLikely benign
Select item 2118516	NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)	KLHL41 (K253*)	Insertion (nonsense)	Nemaline myopathy 9	GPathogenic
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 2111827	NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)	KLHL41 (D105G)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
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 2097438	NM_006063.3(KLHL41):c.145T>C (p.Leu49=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
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 2078449	NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)	KLHL41 (N359S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
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 2069133	NM_006063.3(KLHL41):c.61G>C (p.Asp21His)	KLHL41 (D21H)	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 2063060	NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)	KLHL41 (G542R)	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 2051694	NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)	KLHL41 (V465M)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	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 2046677	NM_006063.3(KLHL41):c.335G>A (p.Arg112His)	KLHL41 (R112H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2046651	NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)	KLHL41 (K471R)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 2046304	NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)	KLHL41 (V490I)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2043411	NM_006063.3(KLHL41):c.1710-4_1710-2dup	KLHL41	Duplication (splice acceptor variant)	Nemaline myopathy 9	GLikely benign
Select item 2041673	NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)	KLHL41 (V465L)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2038829	NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GUncertain significance
Select item 2030088	NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)	KLHL41 (Y545fs)	Deletion (frameshift variant)	Nemaline myopathy 9	GPathogenic
Select item 2022391	NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)	KLHL41 (Y348*)	Single nucleotide variant (nonsense)	Nemaline myopathy 9	GPathogenic
Select item 2011954	NM_006063.3(KLHL41):c.1587C>G (p.Pro529=)	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 2005402	NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)	KLHL41 (D311N)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2004630	NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)	KLHL41 (G290A)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 2003330	NM_006063.3(KLHL41):c.1095G>A (p.Gln365=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1989981	NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)	KLHL41 (M552V)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	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 1978517	NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)	KLHL41 (P81S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1956127	NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)	KLHL41 (P480S)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1956125	NM_006063.3(KLHL41):c.810C>T (p.Ala270=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
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 1932330	NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)	KLHL41 (D372H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
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 1925179	NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)	KLHL41 (D361Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1924322	NM_006063.3(KLHL41):c.1712A>G (p.Tyr571Cys)	KLHL41 (Y571C)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GLikely benign
Select item 1922584	NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)	KLHL41 (R155C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1918674	NM_006063.3(KLHL41):c.1041A>T (p.Ile347=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
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 1897563	NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)	KLHL41 (G290D)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1719051	NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)	KLHL41 (A510P)	Single nucleotide variant (missense variant)	Nemaline myopathy 9	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1674892	NM_006063.3(KLHL41):c.795A>G (p.Glu265=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign
Select item 1660036	NM_006063.3(KLHL41):c.1017C>T (p.Ser339=)	KLHL41	Single nucleotide variant (synonymous variant)	Nemaline myopathy 9	GLikely benign

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