ClinVar for MedGen (Select 75679) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438860	NM_001752.4(CAT):c.1056+1G>C	CAT	Single nucleotide variant (splice donor variant)	Acatalasia	GLikely pathogenic
Select item 1692993	NC_000011.10:g.34438684C>G	CAT	Single nucleotide variant	Acatalasia	GUncertain significance
Select item 773245	NM_001752.4(CAT):c.903+5G>T	CAT	Single nucleotide variant (intron variant)	CAT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 29622	NM_001752.4(CAT):c.203_204dup (p.Ile69fs)	CAT (I69fs)	Microsatellite (frameshift variant)	Acatalasia	GPathogenic

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