"GeneDx"[submitter] AND "LOC101929270"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 1300367	NM_001003722.2(GLE1):c.1313-83A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256858	NM_001003722.2(GLE1):c.1647-44A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	Lethal arthrogryposis-anterior horn cell disease syndrome +3 more	GBenign
Select item 453062	NM_001003722.2(GLE1):c.1724G>A (p.Arg575His)	GLE1, LOC101929270 (R575H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1291486	NM_001003722.2(GLE1):c.1776+243A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197445	NM_001003722.2(GLE1):c.1776+272A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222520	NM_001003722.2(GLE1):c.1777-197A>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270125	NM_001003722.2(GLE1):c.1777-122G>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419082	NM_001003722.2(GLE1):c.1808G>T (p.Arg603Leu)	LOC101929270, GLE1 (R603L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234568	NM_001003722.2(GLE1):c.1881+170T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266187	NM_001003722.2(GLE1):c.1882-244T>C	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213433	NM_001003722.2(GLE1):c.1882-136G>A	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 453063	NM_001003722.2(GLE1):c.1894G>A (p.Ala632Thr)	GLE1, LOC101929270 (A632T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419083	NM_001003722.2(GLE1):c.1997G>T (p.Gly666Val)	GLE1, LOC101929270 (G666V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196951	NM_001003722.2(GLE1):c.2028+140C>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218972	NM_001003722.2(GLE1):c.2029-73T>G	GLE1, LOC101929270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384541	NM_001003722.2(GLE1):c.2084T>C (p.Phe695Ser)	GLE1, LOC101929270 (F695S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1708749	NM_001003722.2(GLE1):c.2093C>T (p.Ser698Phe)	GLE1, LOC101929270 (S698F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 365136	NM_001003722.2(GLE1):c.*73G>A	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +2 more	GBenign
Select item 365138	NM_001003722.2(GLE1):c.*181C>A	GLE1, LOC101929270	Single nucleotide variant (3 prime UTR variant)	Lethal congenital contracture syndrome 1 +2 more	GBenign

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Items: 22