ClinVar (all) for Orgtrack (Select 507704) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3544367	NM_058004.4(PI4KA):c.2819C>T (p.Ala940Val)	PI4KA (A940V +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GUncertain significance
Select item 3544366	NM_058004.4(PI4KA):c.2802_2863-40del	PI4KA	Deletion (splice donor variant)	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	GLikely pathogenic
Select item 2626759	NM_004859.4(CLTC):c.3249+1G>C	CLTC	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1210118	NM_001377.3(DYNC2H1):c.2106+3A>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1210117	NM_001377.3(DYNC2H1):c.11483T>G (p.Ile3828Arg)	DYNC2H1 (I3828R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 977229	NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs)	STIL (L735fs +1 more)	Deletion (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 502127	NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)	STIL (R1279C +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity

ClinVar