Related gene-specific medical variations for Gene (Select 84062) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273956	NM_032122.5(DTNBP1):c.52T>C (p.Ser18Pro)	DTNBP1, LOC129995888 (S18P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3001176	NM_032122.5(DTNBP1):c.56+13T>G	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812967	NM_032122.5(DTNBP1):c.19_20delinsTT (p.Glu7Leu)	DTNBP1, LOC129995888 (E7L)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 2500235	NM_032122.5(DTNBP1):c.111-2A>G	DTNBP1	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 7	GUncertain significance
Select item 2491187	NM_032122.5(DTNBP1):c.38A>G (p.Gln13Arg)	DTNBP1, LOC129995888 (Q13R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2133834	NM_032122.5(DTNBP1):c.56+11G>A	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639022	NM_032122.5(DTNBP1):c.56+17C>A	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575406	NM_032122.5(DTNBP1):c.6G>T (p.Leu2=)	DTNBP1, LOC129995888	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1499545	NM_032122.5(DTNBP1):c.34G>A (p.Val12Met)	DTNBP1, LOC129995888 (V12M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1251590	NM_032122.5(DTNBP1):c.56+262G>C	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225118	NM_032122.5(DTNBP1):c.56+154C>T	DTNBP1, LOC129995888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 814795	GRCh37/hg19 6p22.3(chr6:15582919-15635697)x1	DTNBP1	Copy number loss	not provided	GUncertain significance
Select item 738737	NM_032122.5(DTNBP1):c.12C>T (p.Thr4=)	DTNBP1, LOC129995888	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 563161	GRCh37/hg19 6p22.3(chr6:15569836-15670039)x1	DTNBP1	Copy number loss	not provided	GUncertain significance
Select item 559532	NM_032122.5(DTNBP1):c.286G>T (p.Glu96Ter)	DTNBP1 (E96* +3 more)	Single nucleotide variant (nonsense +1 more)	Interstitial lung disease 2	GUncertain significance
Select item 262009	NM_032122.5(DTNBP1):c.-18A>G	DTNBP1, LOC129995888	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign