ClinVar for OMIM (Select 618492) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688987	NM_001378.3(DYNC1I2):c.1678-3T>C	DYNC1I2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GUncertain significance
Select item 2688986	NM_001378.3(DYNC1I2):c.245-19T>G	DYNC1I2 (C88G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GUncertain significance
Select item 1324307	NM_001378.3(DYNC1I2):c.871-1G>A	DYNC1I2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GLikely pathogenic
Select item 1029274	NM_001378.3(DYNC1I2):c.1546C>A (p.Pro516Thr)	DYNC1I2 (P490T +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GUncertain significance
Select item 635401	NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter)	DYNC1I2 (Q290* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 635400	NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys)	DYNC1I2 (Y247C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 635399	NM_001378.3(DYNC1I2):c.607+1G>A	DYNC1I2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly and structural brain anomalies	GPathogenic