"DONSON-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046432	NM_017613.4(DONSON):c.1657C>T (p.Arg553Trp)	DONSON (R553W)	Single nucleotide variant (missense variant)	DONSON-related disorder	GUncertain significance
Select item 711008	NM_017613.4(DONSON):c.1615G>A (p.Glu539Lys)	DONSON (E539K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 771782	NM_017613.4(DONSON):c.1586C>T (p.Thr529Ile)	DONSON (T529I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3031745	NM_017613.4(DONSON):c.1563+1G>A	DONSON	Single nucleotide variant (splice donor variant)	DONSON-related disorder	GLikely pathogenic
Select item 2970129	NM_017613.4(DONSON):c.1524A>T (p.Val508=)	DONSON	Single nucleotide variant (synonymous variant)	DONSON-related disorder +1 more	GLikely benign
Select item 737509	NM_017613.4(DONSON):c.1466A>G (p.Lys489Arg)	DONSON (K489R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 431445	NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	DONSON (K489T)	Single nucleotide variant (missense variant)	Intellectual disability +7 more	GConflicting classifications of pathogenicity
Select item 718109	NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys)	DONSON (E471K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1565389	NM_017613.4(DONSON):c.1388G>T (p.Gly463Val)	DONSON (G463V)	Single nucleotide variant (missense variant)	DONSON-related disorder +1 more	GBenign
Select item 431414	NM_017613.4(DONSON):c.1047-9A>G	DONSON	Single nucleotide variant (intron variant)	DONSON-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1687665	NM_017613.4(DONSON):c.877C>T (p.Arg293Ter)	DONSON (R293*)	Single nucleotide variant (nonsense)	DONSON-related disorder +1 more	GPathogenic
Select item 2201724	NM_017613.4(DONSON):c.810T>C (p.Tyr270=)	DONSON	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2138383	NM_017613.4(DONSON):c.786-7T>C	DONSON	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3051838	NM_017613.4(DONSON):c.607-31_607-27del	DONSON	Deletion (intron variant)	DONSON-related disorder	GLikely benign
Select item 1987561	NM_017613.4(DONSON):c.30G>A (p.Pro10=)	DONSON	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign