ClinVar for MedGen (Select 483339) - 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 1298312	NM_006392.4(NOP56):c.909G>A (p.Ala303=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 36	GLikely pathogenic
Select item 1030104	NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg)	NOP56 (Q492R)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 36	GUncertain significance
Select item 126458	NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)	LOC109504727, LOC130065308 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GBenign
Select item 126457	NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]	NOP56, LOC109504727 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GPathogenic
Select item 31106	NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]	LOC109504727, LOC130065308 +1 more	Microsatellite	Spinocerebellar ataxia type 36	GPathogenic

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File