"GeneDx"[submitter] AND "GLS"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3364564	NM_014905.5(GLS):c.671_681del (p.Phe224fs)	GLS (F224fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2581967	NM_014905.5(GLS):c.1160G>A (p.Arg387Gln)	GLS (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507063	NM_014905.5(GLS):c.1313G>A (p.Gly438Asp)	GLS (G438D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371889	NM_014905.5(GLS):c.1531A>G (p.Ser511Gly)	GLS (S511G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378357	NM_014905.5(GLS):c.1586A>G (p.Asn529Ser)	GLS (N529S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372804	NM_014905.5(GLS):c.1589A>G (p.Tyr530Cys)	GLS (Y530C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372104	NM_014905.5(GLS):c.1748A>G (p.Asp583Gly)	GLS (D583G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance