"GeneDx"[submitter] AND "GFI1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1271213	NM_005263.5(GFI1):c.*229T>C	GFI1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1170883	NM_005263.5(GFI1):c.925-40CT[21]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GBenign
Select item 298183	NM_005263.5(GFI1):c.925-40CT[23]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 298180	NM_005263.5(GFI1):c.925-40CT[22]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +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 298185	NM_005263.5(GFI1):c.925-40CT[15]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +3 more	GBenign/Likely benign
Select item 298182	NM_005263.5(GFI1):c.925-40CT[17]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1255085	NM_005263.5(GFI1):c.924+54T>G	GFI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247963	NM_005263.5(GFI1):c.299-191T>C	GFI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2505713	NM_005263.5(GFI1):c.258T>G (p.Phe86Leu)	GFI1 (F86L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1350265	NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup)	GFI1	Duplication (inframe_insertion)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 259700	NM_005263.5(GFI1):c.115+10_115+29del	GFI1	Deletion (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GBenign
Select item 259699	NM_005263.5(GFI1):c.107G>A (p.Ser36Asn)	GFI1 (S36N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1040579	NM_005263.5(GFI1):c.49C>G (p.Gln17Glu)	GFI1 (Q17E)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 1262904	NM_005263.5(GFI1):c.-99-97G>C	GFI1	Single nucleotide variant (intron variant)	not provided	GBenign