C1263858[trait identifier] AND "Mendelics"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180591	NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro)	LAMA2 (L11P)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 802260	NM_000426.4(LAMA2):c.1255del (p.Ile419fs)	LAMA2 (I419fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more	GPathogenic
Select item 800887	NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	LAMA2 (D631fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 38340	NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	LAMA2 (R683fs)	Microsatellite (frameshift variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 551522	NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)	LAMA2 (R1029*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 802261	NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)	LAMA2 (C1079R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 802262	NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)	LAMA2 (L1110fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 802263	NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)	LAMA2 (L1188fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 623353	NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)	LAMA2 (R1319*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 196660	NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	LAMA2 (A1496V)	Single nucleotide variant (missense variant)	LAMA2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 802264	NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)	LAMA2 (L1581fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more	GPathogenic
Select item 802265	NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)	LAMA2 (E1646*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 447687	NM_000426.4(LAMA2):c.5234+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 631972	NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)	LAMA2 (E1764fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 802266	NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)	LOC123864065, LAMA2 (K2066*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 92977	NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)	LAMA2 (F2184S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 129442	NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)	LAMA2 (R2477S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GBenign/Likely benign
Select item 167247	NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)	LAMA2 (A2583V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 550992	NM_000426.4(LAMA2):c.8244+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 190218	NM_000426.3(LAMA2):c.[2461A>C;8282T>C]	LOC126859784, LAMA2 (I2761T +2 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 92992	NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del)	LAMA2 (I2852del +1 more)	Deletion (inframe_deletion)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1458457	NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)	LAMA2 (S2868fs +1 more)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic
Select item 1685920	NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)	LAMA2	Insertion (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic

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Items: 23