C5193102[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185435	NM_001318852.2(MAPK8IP3):c.2211T>C (p.Asp737=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185436	NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala)	MAPK8IP3 (T747A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185437	NM_001318852.2(MAPK8IP3):c.2447-15C>T	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185438	NM_001318852.2(MAPK8IP3):c.3409+18A>G	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185439	NM_001318852.2(MAPK8IP3):c.3409+32T>G	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185440	NM_001318852.2(MAPK8IP3):c.3523+16A>C	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185441	NM_001318852.2(MAPK8IP3):c.3562+44C>T	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185442	NM_001318852.2(MAPK8IP3):c.3562+45T>C	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185537	NM_001318852.2(MAPK8IP3):c.3768G>C (p.Gly1256=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185538	NM_001318852.2(MAPK8IP3):c.3893-24G>C	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign