ClinVar for MedGen (Select 481386) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1698876	NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter)	DTNBP1 (L210* +3 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome 7	GLikely pathogenic
Select item 1615910	NM_032122.5(DTNBP1):c.512-16T>C	DTNBP1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 7 +1 more	GLikely benign
Select item 1575214	NM_032122.5(DTNBP1):c.355+10A>G	DTNBP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1032266	NM_032122.5(DTNBP1):c.488+18G>A	DTNBP1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 7	GUncertain significance
Select item 626951	NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)	DTNBP1 (E259fs +3 more)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
Select item 434965	NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)	DTNBP1 (E305fs +3 more)	Microsatellite (frameshift variant)	not provided +2 more	GUncertain significance
Select item 162098	NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter)	DTNBP1 (W59* +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hermansky-Pudlak syndrome 7	GPathogenic
Select item 98379	NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)	DTNBP1	Single nucleotide variant (synonymous variant +1 more)	Hermansky-Pudlak syndrome 7 +1 more	GLikely benign
Select item 98378	NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)	DTNBP1 (I218M +3 more)	Single nucleotide variant (missense variant +1 more)	DTNBP1-related disorder +1 more	GUncertain significance
Select item 3432	NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)	DTNBP1 (Q103* +3 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome 7 +1 more	GPathogenic