ClinVar for MedGen (Select 162924) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251646	NM_001272071.2(AP1S2):c.319del (p.Glu107fs)	AP1S2 (E107fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GPathogenic
Select item 2500867	NM_001272071.2(AP1S2):c.*241A>C	AP1S2	Single nucleotide variant (3 prime UTR variant)	Pettigrew syndrome	GUncertain significance
Select item 2444373	NM_001272071.2(AP1S2):c.21del (p.Phe7fs)	AP1S2 (F7fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GLikely pathogenic
Select item 2442357	NM_001272071.2(AP1S2):c.288+1G>A	AP1S2	Single nucleotide variant (splice donor variant)	Pettigrew syndrome	GPathogenic
Select item 988587	NM_001272071.2(AP1S2):c.1-2A>G	AP1S2	Single nucleotide variant (splice acceptor variant)	Pettigrew syndrome	GPathogenic
Select item 972700	NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)	AP1S2 (E107fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GLikely pathogenic
Select item 929434	NM_001272071.2(AP1S2):c.-1+1G>A	AP1S2	Single nucleotide variant (splice donor variant)	Pettigrew syndrome	GPathogenic/Likely pathogenic
Select item 504198	NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)	AP1S2 (R14*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 434871	NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)	CUL4B (R896Q +3 more)	Single nucleotide variant (missense variant)	Pettigrew syndrome	GLikely pathogenic
Select item 434219	NM_001272071.2(AP1S2):c.281del (p.Phe94fs)	AP1S2 (F94fs)	Deletion (frameshift variant +1 more)	Pettigrew syndrome	GPathogenic
Select item 397541	NM_001272071.2(AP1S2):c.1-3C>A	AP1S2	Single nucleotide variant (intron variant)	Pettigrew syndrome	GPathogenic
Select item 140457	NM_001272071.2(AP1S2):c.426+1G>T	AP1S2	Single nucleotide variant (splice donor variant)	Pettigrew syndrome	GPathogenic
Select item 10781	NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter)	AP1S2 (E76*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome	GPathogenic
Select item 10780	NM_001272071.2(AP1S2):c.288+5G>A	AP1S2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 10779	NM_001272071.2(AP1S2):c.180-5_180-2del	AP1S2	Deletion (splice acceptor variant)	Pettigrew syndrome	GPathogenic
Select item 10778	NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)	AP1S2 (R52*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome +1 more	GPathogenic
Select item 10777	NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter)	AP1S2 (Q36*)	Single nucleotide variant (nonsense +1 more)	Pettigrew syndrome	GPathogenic