ClinVar for MedGen (Select 1719418) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236580	NM_001007228.2(SPOP):c.1100del (p.Pro367fs)	SPOP (P367fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GUncertain significance
Select item 2441912	NM_001007228.2(SPOP):c.1021A>G (p.Met341Val)	SPOP (M341V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GUncertain significance
Select item 1709616	NM_001007228.2(SPOP):c.1094del (p.Gly365fs)	SPOP (G365fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GUncertain significance
Select item 1708091	NM_001007228.2(SPOP):c.1015A>T (p.Lys339Ter)	SPOP (K339*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GLikely benign
Select item 1685452	NM_001007228.2(SPOP):c.312C>A (p.Phe104Leu)	SPOP (F104L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GLikely pathogenic
Select item 830356	NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)	SPOP (D144N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GPathogenic/Likely pathogenic
Select item 830355	NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)	SPOP (R121Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies +2 more	GPathogenic/Likely pathogenic
Select item 694199	NM_001007228.2(SPOP):c.478G>A (p.Glu160Lys)	SPOP (E160K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GPathogenic