C5562040[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691953	NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)	TNR (R1192W +1 more)	Single nucleotide variant (missense variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 691956	NM_003285.3(TNR):c.3357C>G (p.Ser1119Arg)	TNR (S1119R +1 more)	Single nucleotide variant (missense variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GUncertain significance
Select item 691952	NM_003285.3(TNR):c.2744_2745del (p.Val915fs)	TNR (V582fs +1 more)	Microsatellite (frameshift variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 691951	NM_003285.3(TNR):c.2713C>T (p.Arg905Ter)	TNR (R572* +1 more)	Single nucleotide variant (nonsense)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 691954	NM_003285.3(TNR):c.1899del (p.Glu634fs)	TNR (E301fs +1 more)	Deletion (frameshift variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic
Select item 691957	NM_003285.3(TNR):c.1594G>A (p.Asp532Asn)	TNR (D199N +1 more)	Single nucleotide variant (missense variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GLikely pathogenic
Select item 691958	NM_003285.3(TNR):c.1189G>A (p.Ala397Thr)	TNR (A397T +1 more)	Single nucleotide variant (missense variant)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GLikely pathogenic
Select item 691955	NM_003285.3(TNR):c.207C>G (p.Tyr69Ter)	TNR (Y69*)	Single nucleotide variant (5 prime UTR variant +1 more)	Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	GPathogenic