Related gene-specific medical variations for Gene (Select 8405) - ClinVar - NCBI

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Items: 17

	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 2436315	NM_001007228.2(SPOP):c.582G>T (p.Trp194Cys)	SPOP (W194C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436314	NM_001007228.2(SPOP):c.548A>C (p.Glu183Ala)	SPOP (E183A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 376555	NM_001007228.2(SPOP):c.260A>G (p.Tyr87Cys)	SPOP (Y87C)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376554	NM_001007228.2(SPOP):c.259T>A (p.Tyr87Asn)	SPOP (Y87N)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376553	NM_001007228.2(SPOP):c.260A>C (p.Tyr87Ser)	SPOP (Y87S)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376552	NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)	SPOP (W131C)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +1 more	GLikely pathogenic
Select item 376551	NM_001007228.2(SPOP):c.391T>A (p.Trp131Arg)	SPOP (W131R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +1 more	GLikely pathogenic
Select item 376550	NM_001007228.2(SPOP):c.392G>C (p.Trp131Ser)	SPOP (W131S)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +1 more	GLikely pathogenic
Select item 376549	NM_001007228.2(SPOP):c.391T>G (p.Trp131Gly)	SPOP (W131G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +1 more	GLikely pathogenic
Select item 376547	NM_001007228.2(SPOP):c.398T>C (p.Phe133Ser)	SPOP (F133S)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376546	NM_001007228.2(SPOP):c.398T>G (p.Phe133Cys)	SPOP (F133C)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376544	NM_001007228.2(SPOP):c.306C>G (p.Phe102Leu)	SPOP (F102L)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376543	NM_001007228.2(SPOP):c.304T>G (p.Phe102Val)	SPOP (F102V)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 161487	NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)	SPOP (F133L)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +1 more	GConflicting classifications of pathogenicity