ClinVar for MedGen (Select 1714169) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370515	NM_001007228.2(SPOP):c.440A>G (p.Asn147Ser)	SPOP (N147S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies +1 more	GUncertain significance
Select item 2500332	NM_001007228.2(SPOP):c.352G>A (p.Glu118Lys)	SPOP (E118K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	GLikely pathogenic
Select item 2430004	NM_001007228.2(SPOP):c.216C>A (p.Asn72Lys)	SPOP (N72K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	GLikely 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 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 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
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 694238	NM_001007228.2(SPOP):c.295C>T (p.Arg99Trp)	SPOP (R99W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies +1 more	GConflicting classifications of pathogenicity