Related gene-specific medical variations for Gene (Select 55138) - 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 2492301	NM_018088.3(FAM90A1):c.194A>G (p.Lys65Arg)	FAM90A1, LOC126861441 (K65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471088	NM_018088.3(FAM90A1):c.158C>G (p.Thr53Arg)	FAM90A1, LOC126861441 (T53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233211	NM_018088.3(FAM90A1):c.302G>T (p.Gly101Val)	FAM90A1, LOC126861441 (G101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394996	GRCh37/hg19 12p13.31(chr12:8352346-8379000)x3	FAM90A1	Copy number gain	See cases	GBenign
Select item 394178	GRCh37/hg19 12p13.31(chr12:8340669-8379000)x3	FAM90A1	Copy number gain	See cases	GBenign

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File