"GeneDx"[submitter] AND "LOC130068854"[gene] - ClinVar

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Items: 26

	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 189763	NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 93556	NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 588643	NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)	LOC130068854, MECP2 (A8del)	Microsatellite (inframe_deletion +1 more)	Severe neonatal-onset encephalopathy with microcephaly +6 more	GBenign/Likely benign
Select item 193163	NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	LOC130068854, MECP2	Microsatellite (inframe_deletion +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 156657	NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)	LOC130068854, MECP2	Microsatellite (inframe_deletion +1 more)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 1204986	NM_001110792.2(MECP2):c.18C>T (p.Ala6=)	LOC130068854, MECP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 496280	NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr)	LOC130068854, MECP2 (A5T)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GUncertain significance
Select item 11845	NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)	LOC130068854, MECP2 (A2V)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1207096	NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)	LOC130068854, MECP2 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 189764	NM_001110792.2(MECP2):c.1A>G (p.Met1Val)	LOC130068854, MECP2 (M1V)	Single nucleotide variant (missense variant +2 more)	Rett syndrome +1 more	GPathogenic/Likely pathogenic
Select item 156661	NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)	LOC130068854, MECP2 (M1L)	Single nucleotide variant (missense variant +2 more)	Rett syndrome	GLikely pathogenic FDA Recognized database
Select item 511263	NM_001110792.2(MECP2):c.-14A>C	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1209431	NM_001110792.2(MECP2):c.-23C>T	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 156656	NM_001110792.2(MECP2):c.-31AG[2]	LOC130068854, MECP2	Microsatellite (5 prime UTR variant)	Rett syndrome	GBenign FDA Recognized database
Select item 1216883	NM_001110792.2(MECP2):c.-28G>A	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 450096	NM_001110792.2(MECP2):c.-29A>T	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 506965	NM_001110792.2(MECP2):c.-35T>G	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 391465	NM_001110792.2(MECP2):c.-43C>G	LOC130068854, MECP2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1182890	NC_000023.11:g.154097885=	LOC130068854, MECP2	Variation	not provided	GBenign

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Items: 26