"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GFI1"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2060943	NM_005263.5(GFI1):c.1257T>C (p.His419=)	GFI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1608936	NM_005263.5(GFI1):c.1251G>A (p.Thr417=)	GFI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 801501	NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)	GFI1 (T417M)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 965429	NM_005263.5(GFI1):c.1245G>T (p.Arg415=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 733198	NM_005263.5(GFI1):c.1245G>C (p.Arg415=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GBenign/Likely benign
Select item 2789304	NM_005263.5(GFI1):c.1244G>A (p.Arg415Gln)	GFI1 (R415Q)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 259701	NM_005263.5(GFI1):c.1242C>T (p.His414=)	GFI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 759202	NM_005263.5(GFI1):c.1239G>A (p.Arg413=)	GFI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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)	not specified +1 more	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 +2 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 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)	Neutropenia, severe congenital, 2, autosomal dominant +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
Select item 1495351	NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr)	GFI1 (I361T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 946598	NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile)	GFI1 (T359I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2762035	NM_005263.5(GFI1):c.1071A>G (p.Lys357=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2747491	NM_005263.5(GFI1):c.1065G>A (p.Met355Ile)	GFI1 (M355I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 259698	NM_005263.5(GFI1):c.1047C>T (p.Phe349=)	GFI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 298178	NM_005263.5(GFI1):c.1032C>T (p.Tyr344=)	GFI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2772118	NM_005263.5(GFI1):c.1015C>T (p.Pro339Ser)	GFI1 (P339S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 1933939	NM_005263.5(GFI1):c.1012C>T (p.Arg338Trp)	GFI1 (R338W)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2970244	NM_005263.5(GFI1):c.979C>T (p.Leu327=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1139979	NM_005263.5(GFI1):c.948C>A (p.Ile316=)	GFI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1484041	NM_005263.5(GFI1):c.943A>G (p.Lys315Glu)	GFI1 (K315E)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2888103	NM_005263.5(GFI1):c.942T>C (p.Cys314=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GLikely benign
Select item 566000	NM_005263.5(GFI1):c.938A>G (p.Asp313Gly)	GFI1 (D313G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2247790	NM_005263.5(GFI1):c.929G>A (p.Arg310Gln)	GFI1 (R310Q)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 2416654	NM_005263.5(GFI1):c.928C>T (p.Arg310Trp)	GFI1 (R310W)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2059598	NM_005263.5(GFI1):c.925-40CT[29]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1616579	NM_005263.5(GFI1):c.925-40CT[31]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1570397	NM_005263.5(GFI1):c.925-40CT[32]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1555934	NM_005263.5(GFI1):c.925-40CT[34]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1554301	NM_005263.5(GFI1):c.925-40CT[30]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
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 1114439	NM_005263.5(GFI1):c.925-40CT[28]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 800061	NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC	GFI1	Insertion (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GBenign
Select item 788327	NM_005263.5(GFI1):c.925-40CT[27]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GBenign
Select item 770490	NM_005263.5(GFI1):c.925-40CT[24]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GBenign
Select item 538141	NM_005263.5(GFI1):c.925-40CT[26]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
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 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 298181	NM_005263.5(GFI1):c.925-40CT[25]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 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 provided +3 more	GConflicting classifications of pathogenicity
Select item 1582900	NM_005263.5(GFI1):c.925-40CT[11]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1128817	NM_005263.5(GFI1):c.925-40CT[8]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 722828	NM_005263.5(GFI1):c.925-40CT[12]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GBenign
Select item 470696	NM_005263.5(GFI1):c.925-40CT[14]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GBenign
Select item 298186	NM_005263.5(GFI1):c.925-40CT[13]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 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 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 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 1092438	NM_005263.5(GFI1):c.925-7_925-6insTCTCTCTCTA	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GLikely benign
Select item 298187	NM_005263.5(GFI1):c.925-7_925-6insTCTCTT	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1534135	NM_005263.5(GFI1):c.925-9_925-8insTCTCTCTA	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1530203	NM_005263.5(GFI1):c.924+17C>G	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1651080	NM_005263.5(GFI1):c.924+14G>A	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 3002763	NM_005263.5(GFI1):c.924+13C>G	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1597699	NM_005263.5(GFI1):c.924+13C>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1570955	NM_005263.5(GFI1):c.924+11G>A	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1166136	NM_005263.5(GFI1):c.924+10G>C	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GBenign
Select item 2857000	NM_005263.5(GFI1):c.924+9G>A	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1155802	NM_005263.5(GFI1):c.924+9G>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2076904	NM_005263.5(GFI1):c.924+8del	GFI1	Deletion (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 1987056	NM_005263.5(GFI1):c.924+6C>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 1940891	NM_005263.5(GFI1):c.924+6C>A	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 967970	NM_005263.5(GFI1):c.923A>T (p.Gln308Leu)	GFI1 (Q308L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2715462	NM_005263.5(GFI1):c.869G>A (p.Gly290Asp)	GFI1 (G290D)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 1497955	NM_005263.5(GFI1):c.868G>C (p.Gly290Arg)	GFI1 (G290R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2802236	NM_005263.5(GFI1):c.863T>C (p.Met288Thr)	GFI1 (M288T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 644949	NM_005263.5(GFI1):c.854C>T (p.Ala285Val)	GFI1 (A285V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 1365380	NM_005263.5(GFI1):c.837C>G (p.Ser279Arg)	GFI1 (S279R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 1473861	NM_005263.5(GFI1):c.835A>G (p.Ser279Gly)	GFI1 (S279G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2797112	NM_005263.5(GFI1):c.822G>A (p.Val274=)	GFI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 538140	NM_005263.5(GFI1):c.804C>T (p.His268=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GLikely benign
Select item 2984613	NM_005263.5(GFI1):c.800C>T (p.Pro267Leu)	GFI1 (P267L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 949003	NM_005263.5(GFI1):c.797C>T (p.Thr266Met)	GFI1 (T266M)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 947502	NM_005263.5(GFI1):c.796A>G (p.Thr266Ala)	GFI1 (T266A)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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 1594739	NM_005263.5(GFI1):c.787-5C>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2768195	NM_005263.5(GFI1):c.786+12G>A	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 259706	NM_005263.5(GFI1):c.786+11C>A	GFI1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2965474	NM_005263.5(GFI1):c.783C>G (p.Ser261Arg)	GFI1 (S261R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 1982701	NM_005263.5(GFI1):c.776A>G (p.Lys259Arg)	GFI1 (K259R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 538139	NM_005263.5(GFI1):c.772A>G (p.Ile258Val)	GFI1 (I258V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 760630	NM_005263.5(GFI1):c.759C>T (p.Gly253=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign

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