"Ambry Genetics"[submitter] AND "UBD"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185509	NM_006398.4(UBD):c.462C>A (p.Asn154Lys)	OR2I1P, UBD (N154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533310	NM_006398.4(UBD):c.230C>T (p.Thr77Ile)	OR2I1, UBD (T77I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185507	NM_006398.4(UBD):c.199G>A (p.Gly67Ser)	OR2I1P, UBD (G67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185508	NM_006398.4(UBD):c.38G>A (p.Arg13His)	OR2I1P, UBD (R13H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394695	NM_006398.4(UBD):c.12T>A (p.Asn4Lys)	UBD (N4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File