"PreventionGenetics, part of Exact Sciences"[submitter] AND "SF3B4"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030852	NM_005850.5(SF3B4):c.1203C>G (p.Leu401=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 735055	NM_005850.5(SF3B4):c.985T>C (p.Ser329Pro)	SF3B4 (S329P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3061266	NM_005850.5(SF3B4):c.974_977dup (p.Pro327fs)	SF3B4 (P327fs)	Duplication (frameshift variant)	SF3B4-related disorder	GLikely pathogenic
Select item 3053911	NM_005850.5(SF3B4):c.975A>G (p.Gly325=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 780776	NM_005850.5(SF3B4):c.914-4A>G	SF3B4	Single nucleotide variant (intron variant)	SF3B4-related disorder +1 more	GBenign
Select item 3050541	NM_005850.5(SF3B4):c.707-6C>G	SF3B4	Single nucleotide variant (intron variant)	SF3B4-related disorder	GLikely benign
Select item 130291	NM_005850.5(SF3B4):c.682T>C (p.Leu228=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 717807	NM_005850.5(SF3B4):c.561T>C (p.His187=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder +1 more	GBenign
Select item 752457	NM_005850.5(SF3B4):c.555G>A (p.Glu185=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053253	NM_005850.5(SF3B4):c.495G>A (p.Gln165=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 259886	NM_005850.5(SF3B4):c.396T>C (p.Ile132=)	SF3B4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3047059	NM_005850.5(SF3B4):c.381A>G (p.Leu127=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 3031898	NM_005850.5(SF3B4):c.327T>G (p.Pro109=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 3052528	NM_005850.5(SF3B4):c.303C>T (p.Asn101=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 3043491	NM_005850.5(SF3B4):c.34+9A>G	LOC129931382, SF3B4	Single nucleotide variant (intron variant)	SF3B4-related disorder	GLikely benign