"SIB Swiss Institute of Bioinformatics"[submitter] AND "SMPD4"[gene] - ClinVar - NCBI

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870339	NM_017951.5(SMPD4):c.2164C>T (p.Gln722Ter)	SMPD4 (Q761* +3 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 870336	NM_017951.5(SMPD4):c.1865C>T (p.Ala622Val)	SMPD4 (A632V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 691972	NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu)	SMPD4 (P446L +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GUncertain significance
Select item 870338	NM_017951.5(SMPD4):c.575T>C (p.Leu192Pro)	SMPD4 (L158P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 870337	NM_017951.5(SMPD4):c.253G>T (p.Glu85Ter)	SMPD4 (E124* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 691971	NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter)	SMPD4 (Q67* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic