ClinVar (all) for Orgtrack (Select 507974) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328942	NM_019040.5(ELP4):c.272A>G (p.Tyr91Cys)	ELP4 (Y91C)	Single nucleotide variant (missense variant)	Cognitive impairment +2 more	GLikely pathogenic
Select item 1328941	NM_019040.5(ELP4):c.886C>A (p.Leu296Ile)	ELP4 (L296I +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment +2 more	GLikely pathogenic
Select item 1012186	NM_018255.4(ELP2):c.293dup (p.Leu98fs)	ELP2 (L98fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1012185	NM_018255.4(ELP2):c.1214C>T (p.Thr405Ile)	ELP2 (T256I +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, profound	GLikely pathogenic
Select item 1012184	NM_018255.4(ELP2):c.2460_2461del (p.Arg820fs)	ELP2 (R671fs +8 more)	Microsatellite (frameshift variant +1 more)	Intellectual disability, profound	GLikely pathogenic
Select item 1012183	NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	ELP2 (L295S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 870396	NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	ELP2 (R313Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar