"GeneDx"[submitter] AND "LOC126863263"[gene] - ClinVar

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Items: 31

	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 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 1283022	NM_031407.7(HUWE1):c.3972+45A>G	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211165	NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1304418	NM_031407.7(HUWE1):c.3931T>A (p.Ser1311Thr)	HUWE1, LOC126863263 (S1311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588586	NM_031407.7(HUWE1):c.3912A>G (p.Thr1304=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1199539	NM_031407.7(HUWE1):c.3887A>T (p.Glu1296Val)	HUWE1, LOC126863263 (E1296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505941	NM_031407.7(HUWE1):c.3807G>T (p.Met1269Ile)	HUWE1, LOC126863263 (M1269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500627	NM_031407.7(HUWE1):c.3807G>A (p.Met1269Ile)	HUWE1, LOC126863263 (M1269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370648	NM_031407.7(HUWE1):c.3775C>T (p.Arg1259Trp)	HUWE1, LOC126863263 (R1259W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806511	NM_031407.7(HUWE1):c.3745G>A (p.Ala1249Thr)	HUWE1, LOC126863263 (A1249T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279901	NM_031407.7(HUWE1):c.3742-26T>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314978	NM_031407.7(HUWE1):c.3742-29T>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279324	NM_031407.7(HUWE1):c.3742-46G>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205680	NM_031407.7(HUWE1):c.3742-300C>T	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195553	NM_031407.7(HUWE1):c.3741+167G>A	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270283	NM_031407.7(HUWE1):c.3741+150C>T	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196764	NM_031407.7(HUWE1):c.3741+48C>A	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283341	NM_031407.7(HUWE1):c.3741+19A>G	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728080	NM_031407.7(HUWE1):c.3741+9T>A	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368333	NM_031407.7(HUWE1):c.3719G>A (p.Arg1240His)	HUWE1, LOC126863263 (R1240H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704087	NM_031407.7(HUWE1):c.3718C>T (p.Arg1240Cys)	HUWE1, LOC126863263 (R1240C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712668	NM_031407.7(HUWE1):c.3714A>T (p.Ala1238=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1312092	NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr)	HUWE1, LOC126863263 (A1238T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314113	NM_031407.7(HUWE1):c.3710G>T (p.Ser1237Ile)	HUWE1, LOC126863263 (S1237I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196796	NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3372693	NM_031407.7(HUWE1):c.3656C>T (p.Pro1219Leu)	HUWE1, LOC126863263 (P1219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212811	NM_031407.7(HUWE1):c.3643G>A (p.Val1215Met)	HUWE1, LOC126863263 (V1215M)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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Items: 31