C2677180[trait identifier] AND "Department Of Translational Genomics ( - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183315	NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)	TSEN15 (W76G)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 2F	GUncertain significance
Select item 183299	NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)	MZT2B, TUBA3E (R215C)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 183322	NM_001205254.2(OCLN):c.514dup (p.Tyr172fs)	OCLN (Y172fs)	Duplication (frameshift variant +1 more)	Pseudo-TORCH syndrome 1	GUncertain significance
Select item 65406	NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe)	PHC1 (L992F)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 183320	NM_017553.3(INO80):c.3737G>A (p.Arg1246Gln)	INO80 (R1246Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +2 more	GLikely pathogenic
Select item 183321	NM_017553.3(INO80):c.1501T>C (p.Ser501Pro)	INO80 (S501P)	Single nucleotide variant (missense variant +1 more)	Seizure +2 more	GLikely pathogenic
Select item 219187	NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly)	RTTN (D1917G +1 more)	Single nucleotide variant (missense variant)	Primary microcephaly	GLikely pathogenic
Select item 219185	NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln)	RTTN (K1064Q +1 more)	Single nucleotide variant (missense variant)	Primary microcephaly	GLikely pathogenic
Select item 219184	NM_173630.4(RTTN):c.2885+8A>G	RTTN	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to RTTN deficiency +1 more	GPathogenic/Likely pathogenic
Select item 219186	NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro)	RTTN (A578P)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary microcephaly	GLikely pathogenic
Select item 183318	NM_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418fs)	PNKP (R418fs)	Insertion (frameshift variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 183323	NM_024596.3(MCPH1):c.1_114del	MCPH1	Deletion	Global developmental delay +1 more	GLikely pathogenic