Related gene-specific medical variations for Gene (Select 121099708) - 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: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2566742	NM_024028.4(PCYOX1L):c.11C>T (p.Ala4Val)	LOC121099708, LOC129994954 +1 more (A4V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491632	NM_024028.4(PCYOX1L):c.28G>C (p.Ala10Pro)	LOC121099708, LOC129994954 +1 more (A10P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363666	NM_024028.4(PCYOX1L):c.17C>A (p.Pro6Gln)	LOC121099708, LOC129994954 +1 more (P6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302570	NM_024028.4(PCYOX1L):c.20T>A (p.Leu7Gln)	LOC121099708, LOC129994954 +1 more (L7Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File