C3553330[trait identifier] AND "Daryl Scott Lab, Baylor College of Med - ClinVar - NCBI

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Items: 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561034	NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	CRPPA	Single nucleotide variant (stop lost +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GConflicting classifications of pathogenicity
Select item 561033	NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	CRPPA (E439* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GConflicting classifications of pathogenicity