"Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Child - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218693	NM_001128126.3(AP4S1):c.306+4253C>A	AP4S1 (D145E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 218694	NM_001128126.3(AP4S1):c.306+4254_306+4255insAGC	AP4S1	Insertion (inframe_indel +2 more)	not specified	GUncertain significance
Select item 218695	NM_001128126.3(AP4S1):c.306+4255G>T	AP4S1 (S146I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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