"GeneDx"[submitter] AND "LMOD3"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 1234364	NM_198271.5(LMOD3):c.*281C>A	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1188646	NM_198271.5(LMOD3):c.*255C>T	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1222613	NM_198271.5(LMOD3):c.*152A>C	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278003	NM_198271.5(LMOD3):c.*96C>T	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180899	NM_198271.5(LMOD3):c.*15A>G	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 475312	NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val)	LMOD3 (A560V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 1242359	NM_198271.5(LMOD3):c.1657-26C>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190601	NM_198271.5(LMOD3):c.1657-129A>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208044	NM_198271.5(LMOD3):c.1657-161T>C	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212864	NM_198271.5(LMOD3):c.1657-181T>C	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236245	NM_198271.5(LMOD3):c.1657-231del	LMOD3	Deletion (intron variant)	not provided	GBenign
Select item 1202837	NM_198271.5(LMOD3):c.1657-253C>T	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219669	NM_198271.5(LMOD3):c.1656+145A>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 475310	NM_198271.5(LMOD3):c.1655C>A (p.Pro552His)	LMOD3 (P552H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 542081	NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His)	LMOD3 (Y549H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3364341	NM_198271.5(LMOD3):c.1637G>T (p.Ser546Ile)	LMOD3 (S546I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475308	NM_198271.5(LMOD3):c.1519G>A (p.Glu507Lys)	LMOD3 (E507K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1002441	NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly)	LMOD3 (A502G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475307	NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln)	LMOD3 (R498Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 793155	NM_198271.5(LMOD3):c.1353A>G (p.Pro451=)	LMOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 475302	NM_198271.5(LMOD3):c.1313A>T (p.Lys438Met)	LMOD3 (K438M)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 475300	NM_198271.5(LMOD3):c.1270T>C (p.Leu424=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 475298	NM_198271.5(LMOD3):c.1257G>C (p.Met419Ile)	LMOD3 (M419I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 475297	NM_198271.5(LMOD3):c.1226A>G (p.Gln409Arg)	LMOD3 (Q409R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 475293	NM_198271.5(LMOD3):c.1190A>G (p.Gln397Arg)	LMOD3 (Q397R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 475296	NM_198271.5(LMOD3):c.1144C>T (p.Pro382Ser)	LMOD3 (P382S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 162218	NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)	LMOD3 (N367fs)	Deletion (frameshift variant)	Nemaline myopathy 10 +1 more	GPathogenic/Likely pathogenic
Select item 2148132	NM_198271.5(LMOD3):c.990C>G (p.Ile330Met)	LMOD3 (I330M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475334	NM_198271.5(LMOD3):c.878G>A (p.Gly293Asp)	LMOD3 (G293D)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 698004	NM_198271.5(LMOD3):c.837G>A (p.Lys279=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 475333	NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)	LMOD3 (I263T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GConflicting classifications of pathogenicity
Select item 432042	NM_198271.5(LMOD3):c.779T>C (p.Leu260Pro)	LMOD3 (L260P)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GConflicting classifications of pathogenicity
Select item 475332	NM_198271.5(LMOD3):c.759T>C (p.Pro253=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 817627	NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)	LMOD3 (D242fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 475331	NM_198271.5(LMOD3):c.671A>G (p.Asp224Gly)	LMOD3 (D224G)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GUncertain significance
Select item 475330	NM_198271.5(LMOD3):c.642G>A (p.Ser214=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 849579	NM_198271.5(LMOD3):c.468CGA[1] (p.Asp157del)	LMOD3 (D157del)	Microsatellite (inframe_deletion)	Nemaline myopathy 10 +1 more	GUncertain significance
Select item 1112133	NM_198271.5(LMOD3):c.456TGA[3] (p.Asp157del)	LMOD3 (D157del)	Microsatellite (inframe_deletion)	Nemaline myopathy 10 +1 more	GLikely benign
Select item 475325	NM_198271.5(LMOD3):c.444AGA[3] (p.Glu151del)	LMOD3 (E151del)	Microsatellite (inframe_deletion)	Nemaline myopathy 10 +1 more	GUncertain significance
Select item 475323	NM_198271.5(LMOD3):c.426A>G (p.Glu142=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 475322	NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp)	LMOD3 (E142D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2571781	NM_198271.5(LMOD3):c.360dup (p.Glu121fs)	LMOD3 (E121fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1257505	NM_198271.5(LMOD3):c.295-178_295-174del	LMOD3	Deletion (intron variant)	not provided	GBenign
Select item 1230072	NM_198271.5(LMOD3):c.295-255T>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240937	NM_198271.5(LMOD3):c.295-274A>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 475320	NM_198271.5(LMOD3):c.39_41del (p.Leu14del)	LMOD3, LOC126806710 (L14del)	Deletion (inframe_deletion)	Nemaline myopathy 10 +1 more	GBenign
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 1283928	NC_000003.12:g.69122652T>C	LMOD3	Single nucleotide variant	not provided	GBenign

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Items: 57