C0035372[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1274	NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	DOK7 (S112fs +2 more)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome +5 more	GPathogenic/Likely pathogenic
Select item 143438	NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)	MECP2 (P405L +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 1301354	NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome +2 more	GPathogenic
Select item 516184	NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)	MECP2 (L383F +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 548031	NM_001110792.2(MECP2):c.1173dup (p.Val392fs)	MECP2 (V392fs +3 more)	Duplication (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +3 more	GPathogenic
Select item 143749	NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	MECP2 (R309W +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic 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 95202	NM_001110792.2(MECP2):c.842del (p.Gly281fs)	MECP2 (G176fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic
Select item 11811	NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	MECP2 (T158M +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +9 more	GPathogenic/Likely pathogenic
Select item 11833	NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)	MECP2 (Y141* +2 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome +3 more	GPathogenic
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Autism, susceptibility to, X-linked 3 +15 more	GPathogenic/Likely pathogenic
Select item 143567	NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser)	MECP2 (L138S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GPathogenic FDA Recognized database