Related gene-specific medical variations for Gene (Select 56203) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246934	NC_000003.11:g.(?_69158246)_(69171537_?)dup	LMOD3	Duplication	Nemaline myopathy 10	GUncertain significance
Select item 3119401	NM_198271.5(LMOD3):c.283G>A (p.Val95Met)	LMOD3, LOC126806710 (V95M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032618	NM_198271.5(LMOD3):c.201T>C (p.Asn67=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	LMOD3-related disorder	GLikely benign
Select item 2892115	NM_198271.5(LMOD3):c.294+7A>G	LMOD3, LOC126806710	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 2853766	NM_198271.5(LMOD3):c.78C>T (p.Asn26=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2712484	NM_198271.5(LMOD3):c.131_132del (p.Pro44fs)	LMOD3, LOC126806710 (P44fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2695772	NM_198271.5(LMOD3):c.63T>C (p.Asp21=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2693010	NM_198271.5(LMOD3):c.265C>A (p.Arg89=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2653961	NM_198271.5(LMOD3):c.6A>G (p.Ser2=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501771	NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)	LMOD3 (L315fs)	Microsatellite (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2441198	NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter)	LMOD3 (S473*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GLikely pathogenic
Select item 2433491	NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)	LMOD3, LOC126806710 (V72I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2433490	NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)	LMOD3 (N456K)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2384723	NM_198271.5(LMOD3):c.113A>G (p.Glu38Gly)	LMOD3, LOC126806710 (E38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194135	NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn)	LMOD3, LOC126806710 (D15N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2189577	NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile)	LMOD3, LOC126806710 (R6I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2176069	NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)	LMOD3, LOC126806710 (T93fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2172668	NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu)	LMOD3, LOC126806710 (P91L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2148039	NM_198271.5(LMOD3):c.48G>A (p.Glu16=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2119165	NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)	LMOD3, LOC126806710 (E38*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GPathogenic
Select item 2076082	NM_198271.5(LMOD3):c.116T>C (p.Met39Thr)	LMOD3, LOC126806710 (M39T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2057448	NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu)	LMOD3, LOC126806710 (P46L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2046292	NM_198271.5(LMOD3):c.96G>T (p.Leu32=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2015299	NM_198271.5(LMOD3):c.226T>C (p.Tyr76His)	LMOD3, LOC126806710 (Y76H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1947435	NM_198271.5(LMOD3):c.294+20C>T	LMOD3, LOC126806710	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 1717611	NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly)	LMOD3, LOC126806710 (D9G)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1675927	NM_198271.5(LMOD3):c.228T>C (p.Tyr76=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659089	NM_198271.5(LMOD3):c.276C>T (p.Val92=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1620985	NM_198271.5(LMOD3):c.294+17G>A	LMOD3, LOC126806710	Single nucleotide variant (intron variant)	Nemaline myopathy 10 +1 more	GLikely benign
Select item 1563248	NM_198271.5(LMOD3):c.294+15G>A	LOC126806710, LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 1525358	NM_198271.5(LMOD3):c.43G>C (p.Asp15His)	LMOD3, LOC126806710 (D15H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1516194	NM_198271.5(LMOD3):c.263A>T (p.Glu88Val)	LMOD3, LOC126806710 (E88V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1473625	NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu)	LMOD3, LOC126806710 (W77L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1457468	NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer)	LMOD3, LOC126806710	Deletion (nonsense)	Nemaline myopathy 10	GPathogenic
Select item 1450617	NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer)	LMOD3, LOC126806710	Deletion (nonsense)	Nemaline myopathy 10	GPathogenic
Select item 1394361	NM_198271.5(LMOD3):c.17G>C (p.Arg6Thr)	LMOD3, LOC126806710 (R6T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1365740	NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu)	LMOD3, LOC126806710 (S37L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1364843	NM_198271.5(LMOD3):c.114A>G (p.Glu38=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1357871	NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp)	LMOD3, LOC126806710 (N26D)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1323243	NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs)	LMOD3 (T341fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 1323241	NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter)	LMOD3 (Q448*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GPathogenic
Select item 1259631	NM_198271.5(LMOD3):c.-128del	LMOD3, LOC126806710	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1193668	NM_198271.5(LMOD3):c.-140A>G	LMOD3, LOC126806710	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1158747	NM_198271.5(LMOD3):c.111G>A (p.Ser37=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1139522	NM_198271.5(LMOD3):c.138C>T (p.Pro46=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1097235	NM_198271.5(LMOD3):c.171A>G (p.Gln57=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1081899	NM_198271.5(LMOD3):c.54T>C (p.Ile18=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1043774	NM_198271.5(LMOD3):c.110C>G (p.Ser37Trp)	LMOD3, LOC126806710 (S37W)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1032596	NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn)	LMOD3, LOC126806710 (D56N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1032594	NM_198271.5(LMOD3):c.127G>A (p.Ala43Thr)	LMOD3, LOC126806710 (A43T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1027923	NM_198271.5(LMOD3):c.23C>G (p.Ser8Ter)	LMOD3, LOC126806710 (S8*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GLikely pathogenic
Select item 1020427	NM_198271.5(LMOD3):c.46GAG[1] (p.Glu17del)	LMOD3, LOC126806710 (E17del)	Microsatellite (inframe_deletion)	Nemaline myopathy 10	GUncertain significance
Select item 970526	NM_198271.5(LMOD3):c.155T>C (p.Met52Thr)	LMOD3, LOC126806710 (M52T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 947404	NM_198271.5(LMOD3):c.56A>G (p.Asn19Ser)	LMOD3, LOC126806710 (N19S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 942494	NM_198271.5(LMOD3):c.102del (p.Glu34fs)	LMOD3, LOC126806710 (E34fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 940038	NM_198271.5(LMOD3):c.149T>A (p.Val50Glu)	LMOD3, LOC126806710 (V50E)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 863284	NM_198271.5(LMOD3):c.142C>G (p.Leu48Val)	LMOD3, LOC126806710 (L48V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 863058	NM_198271.5(LMOD3):c.52A>G (p.Ile18Val)	LMOD3, LOC126806710 (I18V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 862573	NM_198271.5(LMOD3):c.148G>A (p.Val50Met)	LMOD3, LOC126806710 (V50M)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +2 more	GUncertain significance
Select item 862414	NM_198271.5(LMOD3):c.117G>C (p.Met39Ile)	LMOD3, LOC126806710 (M39I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 849886	NM_198271.5(LMOD3):c.150G>A (p.Val50=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 809504	NM_198271.5(LMOD3):c.1637G>A (p.Ser546Asn)	LMOD3 (S546N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 705169	NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)	LMOD3, LOC126806710 (R83C)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GConflicting classifications of pathogenicity
Select item 704647	NM_198271.5(LMOD3):c.42C>T (p.Leu14=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 656879	NM_198271.5(LMOD3):c.89A>C (p.Glu30Ala)	LOC126806710, LMOD3 (E30A)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 653040	NM_198271.5(LMOD3):c.160C>G (p.Gln54Glu)	LOC126806710, LMOD3 (Q54E)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 646174	NM_198271.5(LMOD3):c.266G>A (p.Arg89Gln)	LMOD3, LOC126806710 (R89Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 575688	NM_198271.5(LMOD3):c.169C>A (p.Gln57Lys)	LMOD3, LOC126806710 (Q57K)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 569573	NM_198271.5(LMOD3):c.292G>A (p.Glu98Lys)	LMOD3, LOC126806710 (E98K)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 542092	NM_198271.5(LMOD3):c.147C>T (p.Pro49=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 542090	NM_198271.5(LMOD3):c.123C>T (p.Val41=)	LOC126806710, LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 542089	NM_198271.5(LMOD3):c.132T>C (p.Pro44=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GBenign
Select item 542085	NM_198271.5(LMOD3):c.203A>G (p.His68Arg)	LMOD3, LOC126806710 (H68R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 475320	NM_198271.5(LMOD3):c.39_41del (p.Leu14del)	LMOD3, LOC126806710 (L14del)	Deletion (inframe_deletion)	Nemaline myopathy 10 +1 more	GBenign
Select item 475316	NM_198271.5(LMOD3):c.252_253delinsAA (p.Met84_Leu85delinsIleMet)	LMOD3, LOC126806710	Indel (missense variant)	Nemaline myopathy 10	GBenign
Select item 475315	NM_198271.5(LMOD3):c.248G>A (p.Arg83His)	LMOD3, LOC126806710 (R83H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 475314	NM_198271.5(LMOD3):c.200A>G (p.Asn67Ser)	LMOD3, LOC126806710 (N67S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GLikely benign
Select item 475313	NM_198271.5(LMOD3):c.186G>A (p.Pro62=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 475303	NM_198271.5(LMOD3):c.135C>T (p.Asp45=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 475301	NM_198271.5(LMOD3):c.129C>T (p.Ala43=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GLikely benign
Select item 435783	NM_198271.5(LMOD3):c.252G>A (p.Met84Ile)	LMOD3, LOC126806710 (M84I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 435782	NM_198271.5(LMOD3):c.253C>A (p.Leu85Met)	LMOD3, LOC126806710 (L85M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 162215	NM_198271.5(LMOD3):c.138dup (p.Ser47fs)	LMOD3, LOC126806710 (S47fs)	Duplication (frameshift variant)	Nemaline myopathy 10	GPathogenic

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Items: 83