"GeneDx"[submitter] AND "LEMD3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310219	NM_014319.5(LEMD3):c.336C>T (p.Ala112=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 310222	NM_014319.5(LEMD3):c.378C>T (p.Ser126=)	LEMD3, LOC130008224	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1947192	NM_014319.5(LEMD3):c.614C>T (p.Pro205Leu)	LEMD3 (P205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817380	NM_014319.5(LEMD3):c.785_792dup (p.Asp265fs)	LEMD3 (D265fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 523926	NM_014319.5(LEMD3):c.782_787del (p.Ser261_Glu263delinsTer)	LEMD3	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 450089	NM_014319.5(LEMD3):c.898A>T (p.Lys300Ter)	LEMD3 (K300*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3372589	NM_014319.5(LEMD3):c.1321T>G (p.Tyr441Asp)	LEMD3 (Y441D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271966	NM_014319.5(LEMD3):c.1522+103A>G	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 310234	NM_014319.5(LEMD3):c.1523-12C>T	LEMD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225454	NM_014319.5(LEMD3):c.1560+174G>A	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182425	NM_014319.5(LEMD3):c.1561-245del	LEMD3	Deletion (intron variant)	not provided	GBenign
Select item 1261927	NM_014319.5(LEMD3):c.1561-69dup	LEMD3	Duplication (intron variant)	not provided	GBenign
Select item 1286345	NM_014319.5(LEMD3):c.1627+30A>T	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250564	NM_014319.5(LEMD3):c.1628-233G>A	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 310236	NM_014319.5(LEMD3):c.1628-11A>C	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 310237	NM_014319.5(LEMD3):c.1695+8A>G	LEMD3	Single nucleotide variant (intron variant)	Dermatofibrosis lenticularis disseminata +1 more	GBenign
Select item 1282873	NM_014319.5(LEMD3):c.1695+100G>A	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242440	NM_014319.5(LEMD3):c.1695+185dup	LEMD3	Duplication (intron variant)	not provided	GBenign
Select item 1290209	NM_014319.5(LEMD3):c.1696-67A>G	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620578	NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)	LEMD3 (E601* +1 more)	Single nucleotide variant (nonsense)	Dermatofibrosis lenticularis disseminata +1 more	GPathogenic/Likely pathogenic
Select item 381745	NM_014319.5(LEMD3):c.1873C>T (p.Arg625Ter)	LEMD3 (R625* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1181636	NM_014319.5(LEMD3):c.1922-317A>G	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232149	NM_014319.5(LEMD3):c.2305+112G>T	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245109	NM_014319.5(LEMD3):c.2388-45C>T	LEMD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223964	NM_014319.5(LEMD3):c.2494-25_2494-22del	LEMD3	Deletion (intron variant)	not provided	GBenign

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Items: 25