"Ambry Genetics"[submitter] AND "LOC129994940"[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 2496423	NM_018989.2(RBM27):c.8T>C (p.Ile3Thr)	LOC127814297, LOC129994940 +1 more (I3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542898	NM_018989.2(RBM27):c.22G>A (p.Ala8Thr)	LOC127814297, LOC129994940 +1 more (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance