Related gene-specific medical variations for Gene (Select 79863) - 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 3152099	NM_024805.3(RBFA):c.34C>T (p.Arg12Cys)	LOC130062798, RBFA (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388084	NM_024805.3(RBFA):c.6G>C (p.Trp2Cys)	LOC130062798, RBFA (W2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385389	NM_024805.3(RBFA):c.46C>T (p.Arg16Trp)	LOC130062798, RBFA (R16W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441977	GRCh37/hg19 18q23(chr18:77753638-77844276)x4	RBFA	Copy number gain	See cases	GUncertain significance

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File