C0005745[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 374186	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND (S259fs +3 more)	Deletion (frameshift variant)	Ptosis +3 more	GLikely pathogenic
Select item 374185	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND (W462L +3 more)	Single nucleotide variant (missense variant)	Ptosis +3 more	GLikely pathogenic
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	Abortive cerebellar ataxia +12 more	GConflicting classifications of pathogenicity
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay +11 more	GPathogenic/Likely pathogenic
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Qualitative or quantitative defects of dystrophin +11 more	GConflicting classifications of pathogenicity