"GeneDx"[submitter] AND "LOC126863262"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 60311	GRCh38/hg38 Xp11.22(chrX:53511777-53575140)x3	HUWE1, LOC126863262 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146020	GRCh38/hg38 Xp11.22(chrX:53532587-53595587)x3	HUWE1, LOC126863262 +3 more	Copy number gain	See cases	GPathogenic
Select item 145165	GRCh38/hg38 Xp11.22(chrX:53532771-53764152)x3	HUWE1, LOC126863262 +10 more	Copy number gain	See cases	GPathogenic
Select item 145164	GRCh38/hg38 Xp11.22(chrX:53532771-53764152)x2	HUWE1, LOC126863262 +10 more	Copy number gain	See cases	GPathogenic
Select item 1301276	NM_031407.7(HUWE1):c.7460G>A (p.Arg2487Gln)	LOC126863262, HUWE1 (R2487Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806512	NM_031407.7(HUWE1):c.7415C>G (p.Pro2472Arg)	HUWE1, LOC126863262 (P2472R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661957	NM_031407.7(HUWE1):c.7381G>A (p.Asp2461Asn)	HUWE1, LOC126863262 (D2461N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503892	NM_031407.7(HUWE1):c.7374_7376del (p.Asp2461del)	HUWE1, LOC126863262 (D2461del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1255318	NM_031407.7(HUWE1):c.7338+15C>T	HUWE1, LOC126863262	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435485	NM_031407.7(HUWE1):c.7317GGAAGATGA[1] (p.2439EED[1])	HUWE1, LOC126863262	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1310569	NM_031407.7(HUWE1):c.7331A>T (p.Asp2444Val)	HUWE1, LOC126863262 (D2444V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191428	NM_031407.7(HUWE1):c.7323T>A (p.Asp2441Glu)	HUWE1, LOC126863262 (D2441E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217533	NM_031407.7(HUWE1):c.7305GGA[6] (p.Glu2440dup)	HUWE1, LOC126863262	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1195793	NM_031407.7(HUWE1):c.7305GGA[3] (p.Glu2439_Glu2440del)	HUWE1, LOC126863262	Microsatellite (inframe_deletion)	not provided	GBenign/Likely benign
Select item 1188333	NM_031407.7(HUWE1):c.7204+269G>A	HUWE1, LOC126863262	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179588	NM_031407.7(HUWE1):c.7204+173G>A	HUWE1, LOC126863262	Single nucleotide variant (intron variant)	not provided	GLikely benign