Related gene-specific medical variations for Gene (Select 23451) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376536	NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)	SF3B1 (R625G)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376535	NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)	SF3B1 (R625C)	Single nucleotide variant (missense variant)	B-cell chronic lymphocytic leukemia +3 more	GLikely pathogenic
Select item 376532	NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)	SF3B1 (K666Q)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376530	NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp)	SF3B1 (G742D)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +1 more	GLikely pathogenic
Select item 376046	NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln)	SF3B1 (K700Q)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376045	NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)	SF3B1 (K700*)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GLikely pathogenic
Select item 376044	NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr)	SF3B1 (K700T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376043	NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg)	SF3B1 (K700R)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376042	NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile)	SF3B1 (K700I)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376041	NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn)	SF3B1 (K700N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376040	NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn)	SF3B1 (K700N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376008	NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)	SF3B1 (K666E)	Single nucleotide variant (missense variant)	B-cell chronic lymphocytic leukemia +4 more	GLikely pathogenic
Select item 376007	NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr)	SF3B1 (K666T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376005	NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn)	SF3B1 (K666N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GPathogenic/Likely pathogenic
Select item 135243	NM_012433.4(SF3B1):c.967A>G (p.Ile323Val)	SF3B1 (I323V)	Single nucleotide variant (missense variant)	not specified	Gnot provided