ClinVar for Gene (Select 2672) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347776	NM_005263.5(GFI1):c.589C>G (p.Leu197Val)	GFI1 (L197V)	Single nucleotide variant (missense variant)	GFI1-related disorder	GUncertain significance
Select item 3281234	NM_005263.5(GFI1):c.674G>A (p.Arg225His)	GFI1 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281233	NM_005263.5(GFI1):c.257T>C (p.Phe86Ser)	GFI1 (F86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281231	NM_005263.5(GFI1):c.203C>T (p.Ala68Val)	GFI1 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254777	NM_005263.5(GFI1):c.765C>A (p.Tyr255Ter)	GFI1 (Y255*)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 3247790	NC_000001.10:g.(?_92457801)_(92949044_?)dup	BRDT, BTBD8 +5 more	Duplication	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	BRDT, BTBD8 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 3099440	NM_005263.5(GFI1):c.914T>C (p.Val305Ala)	GFI1 (V305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099438	NM_005263.5(GFI1):c.646G>A (p.Ala216Thr)	GFI1 (A216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099437	NM_005263.5(GFI1):c.556A>G (p.Ser186Gly)	GFI1 (S186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054604	NM_005263.5(GFI1):c.471C>G (p.Pro157=)	GFI1	Single nucleotide variant (synonymous variant)	GFI1-related disorder	GLikely benign
Select item 3030875	NM_005263.5(GFI1):c.288C>T (p.Ser96=)	GFI1	Single nucleotide variant (synonymous variant)	GFI1-related disorder	GLikely benign
Select item 3016812	NM_005263.5(GFI1):c.508C>T (p.Pro170Ser)	GFI1 (P170S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 3012913	NM_005263.5(GFI1):c.492G>A (p.Pro164=)	GFI1	Single nucleotide variant (synonymous 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 2995971	NM_005263.5(GFI1):c.426T>C (p.Cys142=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2993536	NM_005263.5(GFI1):c.210A>G (p.Ala70=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2988709	NM_005263.5(GFI1):c.241G>A (p.Glu81Lys)	GFI1 (E81K)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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	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 2968606	NM_005263.5(GFI1):c.336C>T (p.Ala112=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2966194	NM_005263.5(GFI1):c.167C>G (p.Ser56Cys)	GFI1 (S56C)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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 2920505	NM_005263.5(GFI1):c.65G>A (p.Gly22Glu)	GFI1 (G22E)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2918019	NM_005263.5(GFI1):c.457C>A (p.Leu153Ile)	GFI1 (L153I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2917103	NM_005263.5(GFI1):c.141G>A (p.Ala47=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2907435	NM_005263.5(GFI1):c.398G>T (p.Arg133Leu)	GFI1 (R133L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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 2903608	NM_005263.5(GFI1):c.521C>T (p.Ala174Val)	GFI1 (A174V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2901206	NM_005263.5(GFI1):c.299-17C>G	GFI1	Single nucleotide variant (intron 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	GLikely benign
Select item 2868118	NM_005263.5(GFI1):c.115+4C>G	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2866432	NM_005263.5(GFI1):c.701G>A (p.Gly234Asp)	GFI1 (G234D)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2861265	NM_005263.5(GFI1):c.116-15G>C	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2859617	NM_005263.5(GFI1):c.86T>A (p.Leu29Ter)	GFI1 (L29*)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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 2856736	NM_005263.5(GFI1):c.617C>A (p.Ala206Glu)	GFI1 (A206E)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2844739	NM_005263.5(GFI1):c.755G>T (p.Gly252Val)	GFI1 (G252V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2841114	NM_005263.5(GFI1):c.251C>A (p.Ser84Ter)	GFI1 (S84*)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2839628	NM_005263.5(GFI1):c.723G>C (p.Ser241=)	GFI1	Single nucleotide variant (synonymous 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 2829271	NM_005263.5(GFI1):c.542C>A (p.Ala181Glu)	GFI1 (A181E)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	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 2816458	NM_005263.5(GFI1):c.115+17G>A	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2806072	NM_005263.5(GFI1):c.232A>G (p.Ser78Gly)	GFI1 (S78G)	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 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 2797535	NM_005263.5(GFI1):c.161G>A (p.Arg54His)	GFI1 (R54H)	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)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2794226	NM_005263.5(GFI1):c.675T>C (p.Arg225=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely 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 2777859	NM_005263.5(GFI1):c.492G>T (p.Pro164=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
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 2777147	NM_005263.5(GFI1):c.298+19C>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2776830	NM_005263.5(GFI1):c.100G>A (p.Ala34Thr)	GFI1 (A34T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2772111	NM_005263.5(GFI1):c.702C>T (p.Gly234=)	GFI1	Single nucleotide variant (synonymous 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 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 2749535	NM_005263.5(GFI1):c.636G>T (p.Glu212Asp)	GFI1 (E212D)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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 2747070	NM_005263.5(GFI1):c.660G>T (p.Leu220Phe)	GFI1 (L220F)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2745875	NM_005263.5(GFI1):c.30G>A (p.Lys10=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2743251	NM_005263.5(GFI1):c.99G>C (p.Pro33=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2741122	NM_005263.5(GFI1):c.149A>G (p.Glu50Gly)	GFI1 (E50G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2736432	NM_005263.5(GFI1):c.643A>G (p.Thr215Ala)	GFI1 (T215A)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2729598	NM_005263.5(GFI1):c.116-14C>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2725279	NM_005263.5(GFI1):c.278C>G (p.Pro93Arg)	GFI1 (P93R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2724079	NM_005263.5(GFI1):c.82C>G (p.Arg28Gly)	GFI1 (R28G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2719847	NM_005263.5(GFI1):c.299-5del	GFI1	Deletion (intron 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 2715179	NM_005263.5(GFI1):c.731T>A (p.Leu244Gln)	GFI1 (L244Q)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2714421	NM_005263.5(GFI1):c.548G>T (p.Gly183Val)	GFI1 (G183V)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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 2696310	NM_005263.5(GFI1):c.185C>T (p.Thr62Ile)	GFI1 (T62I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
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
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 2617070	NM_005263.5(GFI1):c.690C>A (p.His230Gln)	GFI1 (H230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2432113	NM_005263.5(GFI1):c.106_107inv (p.Ser36Leu)	GFI1 (S36L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2427970	NM_005263.5(GFI1):c.539G>A (p.Gly180Glu)	GFI1 (G180E)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2425332	NC_000001.10:g.(?_92941586)_(93307422_?)del	DIPK1A, EVI5 +3 more	Deletion	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2417274	NM_005263.5(GFI1):c.169C>T (p.Pro57Ser)	GFI1 (P57S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	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 2324810	NM_005263.5(GFI1):c.88G>A (p.Glu30Lys)	GFI1 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271768	NM_005263.5(GFI1):c.262G>A (p.Asp88Asn)	GFI1 (D88N)	Single nucleotide variant (missense variant)	not specified	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 2186504	NM_005263.5(GFI1):c.710T>C (p.Val237Ala)	GFI1 (V237A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2177472	NM_005263.5(GFI1):c.730C>T (p.Leu244=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2177294	NM_005263.5(GFI1):c.299-4A>T	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2168604	NM_005263.5(GFI1):c.644C>T (p.Thr215Met)	GFI1 (T215M)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2153680	NM_005263.5(GFI1):c.115+16G>C	GFI1	Single nucleotide variant (intron 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 2143146	NM_005263.5(GFI1):c.154C>T (p.Arg52Trp)	GFI1 (R52W)	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 2133102	NM_005263.5(GFI1):c.752G>C (p.Gly251Ala)	GFI1 (G251A)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2118094	NM_005263.5(GFI1):c.321A>G (p.Pro107=)	GFI1	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign
Select item 2112983	NM_005263.5(GFI1):c.491C>T (p.Pro164Leu)	GFI1 (P164L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GUncertain significance
Select item 2091842	NM_005263.5(GFI1):c.679C>G (p.His227Asp)	GFI1 (H227D)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 2090886	NM_005263.5(GFI1):c.298+12C>G	GFI1	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant	GLikely benign

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