"Illumina Laboratory Services, Illumina"[submitter] AND "GFI1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298183	NM_005263.5(GFI1):c.925-40CT[23]	GFI1	Microsatellite (intron variant)	Severe congenital neutropenia +3 more	GConflicting classifications of pathogenicity
Select item 298181	NM_005263.5(GFI1):c.925-40CT[25]	GFI1	Microsatellite (intron variant)	Severe congenital neutropenia +2 more	GConflicting classifications of pathogenicity
Select item 298180	NM_005263.5(GFI1):c.925-40CT[22]	GFI1	Microsatellite (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298179	NM_005263.5(GFI1):c.925-40CT[20]	GFI1	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 298186	NM_005263.5(GFI1):c.925-40CT[13]	GFI1	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 298185	NM_005263.5(GFI1):c.925-40CT[15]	GFI1	Microsatellite (intron variant)	Severe congenital neutropenia +3 more	GBenign/Likely benign
Select item 298184	NM_005263.5(GFI1):c.925-40CT[16]	GFI1	Microsatellite (intron variant)	Severe congenital neutropenia +2 more	GConflicting classifications of pathogenicity
Select item 298182	NM_005263.5(GFI1):c.925-40CT[17]	GFI1	Microsatellite (intron variant)	Severe congenital neutropenia +2 more	GConflicting classifications of pathogenicity
Select item 298187	NM_005263.5(GFI1):c.925-7_925-6insTCTCTT	GFI1	Microsatellite (intron variant)	Severe congenital neutropenia +1 more	GConflicting classifications of pathogenicity
Select item 2637948	NM_005263.5(GFI1):c.5C>T (p.Pro2Leu)	GFI1 (P2L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance