C4225271[trait identifier] AND "Centre of Medical Genetics, University - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523604	NM_019074.4(DLL4):c.265_267del (p.Phe89del)	DLL4 (F89del)	Deletion (inframe_deletion)	Adams-Oliver syndrome 6	GUncertain significance
Select item 204375	NM_019074.4(DLL4):c.361G>C (p.Ala121Pro)	DLL4 (A121P)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 204373	NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)	DLL4 (R186C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 204374	NM_019074.4(DLL4):c.799C>A (p.Pro267Thr)	DLL4 (P267T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GUncertain significance
Select item 523590	NM_019074.4(DLL4):c.949A>C (p.Thr317Pro)	DLL4 (T317P)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GLikely pathogenic
Select item 204372	NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg)	DLL4 (C390R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 204371	NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)	DLL4 (C390Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 523605	NM_019074.4(DLL4):c.1240+5G>C	DLL4	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 6	GUncertain significance
Select item 523591	NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser)	DLL4 (C437S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GPathogenic
Select item 523592	NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr)	DLL4 (C466Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GPathogenic
Select item 204368	NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter)	DLL4 (Q554*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome	GPathogenic
Select item 204369	NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)	DLL4 (R558*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome	GPathogenic
Select item 523582	NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter)	DLL4 (Q609*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 6	GPathogenic