"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987012	NM_001080517.3(SETD5):c.670del (p.Gln224fs)	SETD5 (Q126fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 265257	NM_001080517.3(SETD5):c.1333C>T (p.Arg445Ter)	SETD5 (R445* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 987206	NM_001080517.3(SETD5):c.2216_2217del (p.Leu739fs)	SETD5 (L641fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987190	NM_001080517.3(SETD5):c.2359C>T (p.Gln787Ter)	SETD5 (Q689* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987474	NM_001080517.3(SETD5):c.3016del (p.Val1006fs)	SETD5 (V1006fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987264	NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs)	SETD5 (Q1058fs +1 more)	Duplication (frameshift variant)	Developmental disorder +1 more	GPathogenic
Select item 3024173	NM_001080517.3(SETD5):c.3512C>G (p.Ser1171Ter)	SETD5 (S1073* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 127106	NM_001080517.3(SETD5):c.3856del (p.Ser1286fs)	SETD5 (S1188fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 987185	NM_001080517.3(SETD5):c.4107_4110dup (p.Ser1371fs)	SETD5 (S1273fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic