"GeneDx"[submitter] AND "QRSL1"[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59524	GRCh38/hg38 6q21(chr6:106143607-106716817)x3	ATG5, CRYBG1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 1262522	NC_000006.12:g.106629533C>T	QRSL1, RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288288	NM_018292.5(QRSL1):c.-55G>A	LOC129996910, QRSL1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270339	NM_018292.5(QRSL1):c.-7G>A	LOC129996910, QRSL1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1264753	NM_018292.5(QRSL1):c.32C>T (p.Ala11Val)	QRSL1 (A11V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1273153	NM_018292.5(QRSL1):c.185-113T>A	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238070	NM_018292.5(QRSL1):c.283+132del	QRSL1	Deletion (intron variant)	not provided	GBenign
Select item 1228689	NM_018292.5(QRSL1):c.381-47A>C	QRSL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1250025	NM_018292.5(QRSL1):c.557+201_557+205del	QRSL1	Deletion (intron variant)	not provided	GBenign
Select item 1183485	NM_018292.5(QRSL1):c.788A>G (p.Asn263Ser)	QRSL1 (N263S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1246099	NM_018292.5(QRSL1):c.849+26C>T	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276906	NM_018292.5(QRSL1):c.1043-82dup	QRSL1	Duplication (intron variant)	not provided	GBenign
Select item 1244046	NM_018292.5(QRSL1):c.1043-82del	QRSL1	Deletion (intron variant)	not provided	GBenign
Select item 1286395	NM_018292.5(QRSL1):c.1043-11C>T	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178563	NM_018292.5(QRSL1):c.1366+24T>G	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220643	NM_018292.5(QRSL1):c.1367-254T>G	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250960	NM_018292.5(QRSL1):c.1367-148A>G	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263187	NM_018292.5(QRSL1):c.1367-39G>A	QRSL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251173	NM_018292.5(QRSL1):c.1425G>A (p.Leu475=)	QRSL1	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 40 +1 more	GBenign
Select item 1283868	NM_018292.5(QRSL1):c.*76C>G	QRSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1235771	NM_018292.5(QRSL1):c.*86C>T	QRSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271970	NM_018292.5(QRSL1):c.*90T>A	QRSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22