C4014821[trait identifier] AND "Sayer Lab, Translational and Clinical - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521310	NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter)	LAMA1 (R1133*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1098869	NM_005559.4(LAMA1):c.3053del (p.Pro1018fs)	LAMA1 (P1018fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098918	NM_005559.4(LAMA1):c.2962del (p.Tyr988fs)	LAMA1 (Y988fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 523859	NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter)	LAMA1 (R782*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GPathogenic
Select item 1098919	NM_005559.4(LAMA1):c.1281C>A (p.Cys427Ter)	LAMA1 (C427*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098868	NM_005559.4(LAMA1):c.494del (p.Ile165fs)	LAMA1 (I165fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098870	NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg)	LAMA1 (Q94R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic

ClinVar