Related gene-specific medical variations for Gene (Select 56949) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1217167	NC_000019.10:g.7629463C>T	LOC130063379, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 930724	NM_020196.3(XAB2):c.2267-1G>T	XAB2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 683454	NM_001171155.1(PET100):c.-327G>A	XAB2, LOC130063379 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign

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