"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95189	NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
Select item 143372	NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	MECP2-related disorder +3 more	GPathogenic
Select item 95184	NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	MECP2 (P388S +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11819	NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	MECP2 (R294* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic FDA Recognized database
Select item 138191	NM_001110792.2(MECP2):c.879C>T (p.Ala293=)	MECP2	Single nucleotide variant (synonymous variant)	Rett syndrome +4 more	GBenign
Select item 1809585	NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)	MECP2 (D167fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 95201	NM_001110792.2(MECP2):c.813C>T (p.Ala271=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +3 more	GBenign/Likely benign
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	MECP2-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 143681	NM_001110792.2(MECP2):c.786C>T (p.Arg262=)	MECP2	Single nucleotide variant (synonymous variant)	Severe neonatal-onset encephalopathy with microcephaly +4 more	GBenign/Likely benign
Select item 138188	NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)	MECP2 (A201V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 143579	NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	MECP2 (P152R +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11809	NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	MECP2 (R133C +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 156063	NM_001110792.2(MECP2):c.414-17del	MECP2	Deletion (intron variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 11814	NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2 (R106W +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +7 more	GPathogenic/Likely pathogenic
Select item 2685775	GRCh37/hg19 Xq28(chrX:152941303-153549189)x2	OPN1LW, OPN1MW +20 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808427	GRCh37/hg19 Xq28(chrX:153282944-153681801)x3	ATP6AP1, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341091	GRCh37/hg19 Xq28(chrX:152740984-153431748)x2	ABCD1, ARHGAP4 +23 more	Copy number gain	not provided	GPathogenic
Select item 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 980883	GRCh37/hg19 Xq28(chrX:153135257-153594096)x3	ARHGAP4, AVPR2 +13 more	Copy number gain	not provided	GPathogenic
Select item 980882	GRCh37/hg19 Xq28(chrX:153113943-153624215)x2	ARHGAP4, AVPR2 +14 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 816414	GRCh37/hg19 Xq28(chrX:153029046-153567369)x3	PLXNB3, L1CAM +17 more	Copy number gain	not provided	GPathogenic
Select item 816413	GRCh37/hg19 Xq28(chrX:153023149-153345755)x2	ARHGAP4, HCFC1 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 816411	GRCh37/hg19 Xq28(chrX:152516781-153368573)x2	SSR4, ZNF275 +26 more	Copy number gain	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 565267	GRCh37/hg19 Xq28(chrX:153322172-153624604)x2	OPN1MW, FLNA +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 565266	GRCh37/hg19 Xq28(chrX:153123907-153431401)x2	TMEM187, ARHGAP4 +8 more	Copy number gain	not provided	GPathogenic
Select item 565264	GRCh37/hg19 Xq28(chrX:152941302-153438781)x3	L1CAM, SRPK3 +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 565263	GRCh37/hg19 Xq28(chrX:152628304-153594168)x2	OPN1MW2, FLNA +31 more	Copy number gain	not provided	GPathogenic
Select item 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic

ClinVar

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Items: 46