"OMIM"[submitter] AND "SPOP"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162201	NM_001007228.2(SPOP):c.887A>T (p.Asn296Ile)	SPOP (N296I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 830359	NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)	SPOP (R138C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 830357	NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)	SPOP (G132V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	GLikely pathogenic
Select item 830355	NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)	SPOP (R121Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 830360	NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)	SPOP (Y83C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	GLikely pathogenic
Select item 830358	NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)	SPOP (T25A)	Single nucleotide variant (missense variant)	SPOP-related disorder +1 more	GConflicting classifications of pathogenicity