"PreventionGenetics, part of Exact Sciences"[submitter] AND "CPB1"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039170	NM_001871.3(CPB1):c.72C>T (p.Gly24=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder	GBenign
Select item 3037191	NM_001871.3(CPB1):c.125G>A (p.Arg42His)	CPB1 (R42H)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 3033459	NM_001871.3(CPB1):c.192C>T (p.His64=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder	GLikely benign
Select item 3034026	NM_001871.3(CPB1):c.193A>G (p.Ser65Gly)	CPB1 (S65G)	Single nucleotide variant (missense variant)	CPB1-related disorder	GLikely benign
Select item 3039545	NM_001871.3(CPB1):c.516C>A (p.Asp172Glu)	CPB1 (D172E)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 3024745	NM_001871.3(CPB1):c.584G>A (p.Arg195His)	CPB1 (R195H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 784026	NM_001871.3(CPB1):c.621C>T (p.Leu207=)	CPB1	Single nucleotide variant (synonymous variant)	CPB1-related disorder +1 more	GBenign/Likely benign
Select item 3059113	NM_001871.3(CPB1):c.622G>A (p.Asp208Asn)	CPB1 (D208N)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 2654211	NM_001871.3(CPB1):c.687+6T>C	CPB1	Single nucleotide variant (intron variant)	CPB1-related disorder +1 more	GLikely benign
Select item 3037614	NM_001871.3(CPB1):c.694T>C (p.Phe232Leu)	CPB1 (F232L)	Single nucleotide variant (missense variant)	CPB1-related disorder	GBenign
Select item 771355	NM_001871.3(CPB1):c.778+6T>C	CPB1	Single nucleotide variant (intron variant)	CPB1-related disorder +1 more	GBenign
Select item 773139	NM_001871.3(CPB1):c.1182C>G (p.Ile394Met)	CPB1 (I394M)	Single nucleotide variant (missense variant)	CPB1-related disorder +1 more	GBenign