"Ambry Genetics"[submitter] AND "LOC129998686"[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 2588381	NM_031925.3(TMEM120A):c.69C>A (p.Phe23Leu)	LOC129998686, TMEM120A (F23L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531059	NM_031925.3(TMEM120A):c.17C>T (p.Pro6Leu)	LOC129998686, TMEM120A (P6L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance