Related gene-specific medical variations for Gene (Select 3915) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601611	NM_002293.4(LAMC1):c.4498G>A (p.Glu1500Lys)	LAMC1, LAMC1-AS1 (E1500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404235	NM_002293.4(LAMC1):c.4531A>G (p.Thr1511Ala)	LAMC1, LAMC1-AS1 (T1511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696717	NM_002293.4(LAMC1):c.1640T>C (p.Ile547Thr)	LAMC1 (I547T)	Single nucleotide variant (missense variant)	LAMC1-related autism spectrum disorder	GUncertain significance
Select item 1679690	NM_002293.4(LAMC1):c.1021+1G>A	LAMC1	Single nucleotide variant (splice donor variant)	LAMC1-associated syndrome	GUncertain significance
Select item 1294851	NM_002293.4(LAMC1):c.4474-37T>A	LAMC1, LAMC1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282385	NM_002293.4(LAMC1):c.-118A>G	LAMC1, LOC129932071	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248168	NM_002293.4(LAMC1):c.4474-173del	LAMC1, LAMC1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 978146	NM_002293.4(LAMC1):c.3528G>C (p.Met1176Ile)	LAMC1 (M1176I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100838	NM_002293.4(LAMC1):c.814T>C (p.Ser272Pro)	LAMC1 (S272P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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