"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226620	NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly)	DTNBP1 (R292G +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 163299	NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)	DTNBP1 (P272S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 163300	NM_032122.5(DTNBP1):c.811+96G>A	DTNBP1 (A303T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 163301	NM_032122.5(DTNBP1):c.811+78C>T	DTNBP1 (H297Y)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 178772	NM_032122.5(DTNBP1):c.811+59A>G	DTNBP1	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GBenign
Select item 434962	NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)	DTNBP1 (T264A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 226619	NM_032122.5(DTNBP1):c.667+2C>T	DTNBP1	Single nucleotide variant (splice donor variant)	not specified +1 more	GBenign
Select item 355969	NM_032122.5(DTNBP1):c.489-8dup	DTNBP1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163302	NM_032122.5(DTNBP1):c.356-7C>T	DTNBP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign