C3553947[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724319	NM_002617.4(PEX10):c.618del (p.Gly208fs)	PEX10 (G208fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1723948	NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)	PEX10 (W181* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 1725819	NM_002617.4(PEX10):c.522_523del (p.Gln175fs)	PEX10 (Q175fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 1724832	NM_002617.4(PEX10):c.445_452del (p.Thr149fs)	PEX10 (T149fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 1724122	NM_002617.4(PEX10):c.222_223del (p.Ser75fs)	PEX10 (S75fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1724150	NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)	PEX10 (W45*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic

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