"Genome-Nilou Lab"[submitter] AND "LAMA2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92938	NM_000426.4(LAMA2):c.156C>T (p.Ile52=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92955	NM_000426.4(LAMA2):c.381C>A (p.Thr127=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92949	NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 256064	NM_000426.4(LAMA2):c.3174+38A>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GBenign
Select item 92951	NM_000426.4(LAMA2):c.3411+13G>A	LAMA2	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92966	NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92967	NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 256076	NM_000426.4(LAMA2):c.5727-24T>A	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GBenign
Select item 682929	NM_000426.4(LAMA2):c.5727-22C>T	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +2 more	GBenign
Select item 682931	NM_000426.4(LAMA2):c.5727-21T>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +2 more	GBenign
Select item 92987	NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +4 more	GBenign
Select item 92988	NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign