Related gene-specific medical variations for Gene (Select 5557) - 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 Gene

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218673	NM_000946.3(PRIM1):c.71C>G (p.Ser24Cys)	LOC124629375, PRIM1 (S24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618996	NM_000946.3(PRIM1):c.98G>A (p.Gly33Asp)	LOC124629375, PRIM1 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462605	NM_000946.3(PRIM1):c.80A>G (p.Tyr27Cys)	LOC124629375, PRIM1 (Y27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701203	NM_000946.3(PRIM1):c.103+2T>G	LOC124629375, PRIM1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 981921	NM_000946.3(PRIM1):c.103+1G>T	LOC124629375, PRIM1	Single nucleotide variant (splice donor variant)	Primordial dwarfism-immunodeficiency-lipodystrophy 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