C0035372[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 19

	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 495261	NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	RHOBTB2 (R511W +2 more)	Single nucleotide variant (missense variant)	Rett syndrome +3 more	GPathogenic/Likely pathogenic
Select item 143360	NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)	MECP2 (L293fs +2 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Lubs type +3 more	GPathogenic/Likely pathogenic
Select item 143369	NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	MECP2 (L398fs +2 more)	Deletion (frameshift variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1029915	NM_001110792.2(MECP2):c.1146C>G (p.His382Gln)	MECP2 (H370Q +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GUncertain significance
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 11815	NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	MECP2 (R270* +3 more)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 3 +8 more	GPathogenic
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 156667	NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)	MECP2 (R190C +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GUncertain significance FDA Recognized database
Select item 143593	NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)	MECP2 (T160S +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GConflicting classifications of pathogenicity
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 11844	NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	MECP2 (P152A +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GLikely pathogenic FDA Recognized database
Select item 1029916	NM_001110792.2(MECP2):c.465A>G (p.Glu155=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GConflicting classifications of pathogenicity
Select item 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 374353	NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)	MECP2 (R111K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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