"Ambry Genetics"[submitter] AND "SMIM8"[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 2624080	NM_001042493.3(SMIM8):c.89C>T (p.Thr30Ile)	SMIM8 (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621508	NM_001042493.3(SMIM8):c.167C>T (p.Thr56Ile)	SMIM8 (T56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166594	NM_001042493.3(SMIM8):c.185C>T (p.Ala62Val)	SMIM8 (A62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166595	NM_001042493.3(SMIM8):c.188A>G (p.Tyr63Cys)	SMIM8 (Y63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326793	NM_001042493.3(SMIM8):c.232T>C (p.Tyr78His)	SMIM8 (Y78H)	Single nucleotide variant (missense variant +1 more)	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