"PreventionGenetics, part of Exact Sciences"[submitter] AND "YY1AP1"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054037	NM_139119.3(YY1AP1):c.2073A>G (p.Gly691=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	YY1AP1-related disorder	GLikely benign
Select item 709137	NM_139119.3(YY1AP1):c.1773C>T (p.Ala591=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 710876	NM_139119.3(YY1AP1):c.1202A>G (p.Lys401Arg)	YY1AP1 (K381R +6 more)	Single nucleotide variant (missense variant +1 more)	YY1AP1-related disorder +2 more	GLikely benign
Select item 773817	NM_139119.3(YY1AP1):c.1149A>G (p.Leu383=)	YY1AP1	Single nucleotide variant (synonymous variant +1 more)	YY1AP1-related disorder +1 more	GLikely benign
Select item 720259	NM_139119.3(YY1AP1):c.975C>T (p.His325=)	YY1AP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 375642	NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter)	YY1AP1 (Q222* +4 more)	Single nucleotide variant (nonsense)	YY1AP1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3052471	NM_139119.3(YY1AP1):c.-145T>A	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	YY1AP1-related disorder	GLikely benign
Select item 720286	NM_139119.3(YY1AP1):c.-151-23C>T	DAP3, YY1AP1 (L81F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 791223	NM_139119.3(YY1AP1):c.-151-68T>C	DAP3, YY1AP1 (S66P)	Single nucleotide variant (missense variant +1 more)	YY1AP1-related disorder +2 more	GBenign/Likely benign
Select item 736159	NM_139119.3(YY1AP1):c.-151-128_-151-120del	DAP3, YY1AP1	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign
Select item 3054730	NM_139119.3(YY1AP1):c.-151-186A>G	DAP3, YY1AP1	Single nucleotide variant (synonymous variant +1 more)	YY1AP1-related disorder	GLikely benign