ClinVar for MedGen (Select 375050) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1517491	NM_005263.5(GFI1):c.233G>C (p.Ser78Thr)	GFI1 (S78T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
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 1163738	NM_005263.5(GFI1):c.541G>A (p.Ala181Thr)	GFI1 (A181T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GUncertain significance
Select item 1030899	NM_005263.5(GFI1):c.577G>T (p.Ala193Ser)	GFI1 (A193S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 951085	NM_005263.5(GFI1):c.391G>A (p.Asp131Asn)	GFI1 (D131N)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 636791	NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)	GFI1 (C245R)	Single nucleotide variant (missense variant)	Nonimmune chronic idiopathic neutropenia of adults +2 more	GUncertain significance
Select item 402897	NM_005263.5(GFI1):c.925-40CT[19]	GFI1	Microsatellite (intron variant)	Nonimmune chronic idiopathic neutropenia of adults +2 more	GBenign/Likely benign
Select item 298188	NM_005263.5(GFI1):c.792C>T (p.Phe264=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant +3 more	GBenign/Likely benign
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 298184	NM_005263.5(GFI1):c.925-40CT[16]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 8740	NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)	GFI1, LOC129930930 (K403R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GConflicting classifications of pathogenicity