ClinVar for MedGen (Select 1727728) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Links from MedGen

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236053	NM_201280.3(BLOC1S5):c.154del (p.Val52fs)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (V52fs)	Deletion (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 11	GLikely pathogenic
Select item 3065169	NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1R)	Single nucleotide variant (non-coding transcript variant +3 more)	Hermansky-Pudlak syndrome 11	GPathogenic
Select item 2431939	NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E7*)	Single nucleotide variant (non-coding transcript variant +2 more)	Hermansky-Pudlak syndrome 11	GLikely pathogenic
Select item 996012	NM_201280.2:c.196-678_384+3483del	BLOC1S5	Deletion	Hermansky-Pudlak syndrome 11	GPathogenic
Select item 870631	NM_201280.3(BLOC1S5):c.345del (p.Val116fs)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (Q72fs +2 more)	Deletion (non-coding transcript variant +1 more)	Hermansky-Pudlak syndrome +1 more	GPathogenic

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File