"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38340	NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	LAMA2 (R683fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 507122	NM_000426.4(LAMA2):c.2450+16A>G	LAMA2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 14301	NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)	LAMA2 (C967*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 265426	NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	LAMA2 (R1826*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 639721	NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys)	LAMA2 (W2208C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 92980	NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	LAMA2 (R2319*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +5 more	GPathogenic

ClinVar