"GeneDx"[submitter] AND "LOC130068840"[gene] - ClinVar - NCBI

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Items: 13

	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 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58740	GRCh38/hg38 Xq28(chrX:153769547-154394658)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 58741	GRCh38/hg38 Xq28(chrX:153777340-154397779)x3	ARHGAP4, AVPR2 +66 more	Copy number gain	See cases	GPathogenic
Select item 58742	GRCh38/hg38 Xq28(chrX:153787044-154397779)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 1712895	NM_003491.4(NAA10):c.17C>A (p.Ala6Glu)	LOC130068840, NAA10 (A6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423288	NM_003491.4(NAA10):c.11G>T (p.Arg4Leu)	LOC130068840, NAA10 (R4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371634	NM_003491.4(NAA10):c.5del (p.Asn2fs)	LOC130068840, NAA10 (N2fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1301496	NM_003491.4(NAA10):c.-106G>A	LOC130068840, NAA10	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1287965	NC_000023.11:g.153935224A>G	LOC130068840, NAA10	Single nucleotide variant	not provided	GBenign
Select item 1241171	NC_000023.11:g.153935244C>T	LOC130068840, NAA10	Single nucleotide variant	not provided	GBenign