C0036572[trait identifier] AND "Kariminejad - Najmabadi Pathology & Ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636308	NM_001127178.3(PIGG):c.1A>G (p.Met1Val)	PIGG (M1V)	Single nucleotide variant (missense variant +4 more)	Seizure	GLikely pathogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +26 more	GPathogenic/Likely pathogenic
Select item 183338	NM_001163435.3(TBCK):c.1897+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GPathogenic
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system +9 more	GConflicting classifications of pathogenicity
Select item 156408	NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)	PURA (Y121*)	Single nucleotide variant (nonsense)	Abnormality of the nervous system +2 more	GPathogenic/Likely pathogenic
Select item 208824	NM_152906.7(TANGO2):c.605+1G>A	TANGO2	Single nucleotide variant (non-coding transcript variant +2 more)	Seizure +7 more	GPathogenic/Likely pathogenic
Select item 6195	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	PLA2G6 (Y790* +4 more)	Single nucleotide variant (nonsense)	Autism +11 more	GConflicting classifications of pathogenicity

ClinVar