"Ambry Genetics"[submitter] AND "LOC130063262"[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 2306499	NM_198706.3(HSD11B1L):c.326A>G (p.Asp109Gly)	HSD11B1L, LOC130063262 (D22G +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489270	NM_198706.3(HSD11B1L):c.371G>A (p.Arg124Gln)	LOC130063262, HSD11B1L (R124Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance