PHB1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13393	PHB:c.*729C>T	PHB1	Single nucleotide variant (3 prime UTR variant)	Breast cancer, susceptibility to	Grisk factor
Select item 784359	NM_002634.4(PHB1):c.753C>T (p.Leu251=)	PHB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1254039	NM_002634.4(PHB1):c.511-12C>G	PHB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047679	NM_002634.4(PHB1):c.456C>T (p.Asp152=)	PHB1	Single nucleotide variant (synonymous variant +1 more)	PHB1-related disorder	GLikely benign
Select item 3059217	NM_002634.4(PHB1):c.393+9A>G	PHB1	Single nucleotide variant (intron variant)	PHB1-related disorder	GBenign
Select item 3211969	NM_002634.4(PHB1):c.310C>T (p.Pro104Ser)	PHB1 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306071	NM_002634.4(PHB1):c.277C>T (p.Arg93Cys)	PHB1 (R93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620509	NM_002634.4(PHB1):c.239C>G (p.Thr80Ser)	PHB1 (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619603	NM_002634.4(PHB1):c.202G>T (p.Asp68Tyr)	PHB1 (D68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211968	NM_002634.4(PHB1):c.152G>A (p.Gly51Glu)	PHB1 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445301	NM_002634.4(PHB1):c.64G>A (p.Val22Met)	PHB1 (V22M)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign