"Ambry Genetics"[submitter] AND "LOC126805904"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327644	NM_032858.3(MAEL):c.10C>T (p.Arg4Cys)	LOC126805904, MAEL (R4C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538640	NM_032858.3(MAEL):c.146A>G (p.Glu49Gly)	LOC126805904, MAEL (E49G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance