LOC129930930[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 2700875	NM_005263.5(GFI1):c.1209G>A (p.Lys403=)	GFI1, LOC129930930	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
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
Select item 470694	NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)	GFI1, LOC129930930 (L400F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1650598	NM_005263.5(GFI1):c.1194C>T (p.Cys398=)	GFI1, LOC129930930	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1931885	NM_005263.5(GFI1):c.1190G>T (p.Gly397Val)	GFI1, LOC129930930 (G397V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2777384	NM_005263.5(GFI1):c.1189G>A (p.Gly397Ser)	GFI1, LOC129930930 (G397S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 298177	NM_005263.5(GFI1):c.1188C>T (p.Phe396=)	GFI1, LOC129930930	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GBenign/Likely benign
Select item 1417552	NM_005263.5(GFI1):c.1172C>T (p.Thr391Ile)	GFI1, LOC129930930 (T391I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2804394	NM_005263.5(GFI1):c.1162C>T (p.Arg388Cys)	GFI1, LOC129930930 (R388C)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 8739	NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)	GFI1, LOC129930930 (N382S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2133745	NM_005263.5(GFI1):c.1132A>G (p.Ser378Gly)	GFI1, LOC129930930 (S378G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2632637	NM_005263.5(GFI1):c.1126G>A (p.Ala376Thr)	GFI1, LOC129930930 (A376T)	Single nucleotide variant (missense variant)	GFI1-related disorder +1 more	GUncertain significance
Select item 954544	NM_005263.5(GFI1):c.1120G>A (p.Gly374Ser)	GFI1, LOC129930930 (G374S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2827513	NM_005263.5(GFI1):c.1119C>A (p.Cys373Ter)	GFI1, LOC129930930 (C373*)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 1570632	NM_005263.5(GFI1):c.1119C>T (p.Cys373=)	GFI1, LOC129930930	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2151251	NM_005263.5(GFI1):c.1098G>A (p.Lys366=)	GFI1, LOC129930930	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 745040	NM_005263.5(GFI1):c.1092T>G (p.Gly364=)	GFI1, LOC129930930	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095641	NM_005263.5(GFI1):c.1091-5C>T	GFI1, LOC129930930	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2903629	NM_005263.5(GFI1):c.1091-16C>G	GFI1, LOC129930930	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2830624	NM_005263.5(GFI1):c.1091-19C>T	GFI1, LOC129930930	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign

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Items: 21