"GeneDx"[submitter] AND "LAGE3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 60420	GRCh38/hg38 Xq28(chrX:154336596-154642063)x2	ATP6AP1, ATP6AP1-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 60422	GRCh38/hg38 Xq28(chrX:154394598-154626056)x2	ATP6AP1, ATP6AP1-DT +42 more	Copy number gain	See cases	GUncertain significance
Select item 58018	GRCh38/hg38 Xq28(chrX:154394598-154554969)x1	ATP6AP1, ATP6AP1-DT +37 more	Copy number loss	See cases	GPathogenic
Select item 1243955	NC_000023.11:g.154477707_154477708insG	LAGE3, PLXNA3	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1235001	NM_006014.5(LAGE3):c.*19G>C	LAGE3	Single nucleotide variant (3 prime UTR variant)	Galloway-Mowat syndrome 2, X-linked +1 more	GBenign
Select item 3373045	NM_006014.5(LAGE3):c.383C>T (p.Ser128Phe)	LAGE3 (S128F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662112	NM_006014.5(LAGE3):c.305G>A (p.Arg102Lys)	LAGE3 (R102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303794	NM_006014.5(LAGE3):c.250C>A (p.Pro84Thr)	LAGE3 (P84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342918	NM_006014.5(LAGE3):c.214C>T (p.Pro72Ser)	LAGE3 (P72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179842	NM_006014.5(LAGE3):c.189-34G>C	LAGE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429571	NM_006014.5(LAGE3):c.116dup (p.Ala40fs)	LAGE3, LOC130068876 (A40fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1803463	NM_006014.5(LAGE3):c.64dup (p.Ser22fs)	LAGE3, LOC130068876 (S22fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253514	GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	CTAG1A, MPP1 +19 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 33