GBF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 1012557	NM_005029.4(PITX3):c.773A>G (p.Asp258Gly)	GBF1, PITX3 (D258G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162942	NM_005029.4(PITX3):c.771G>A (p.Arg257=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 620191	NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter)	GBF1, LOC130004591 +1 more (Y254*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3047919	NM_005029.4(PITX3):c.759C>T (p.Pro253=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 665913	NM_005029.4(PITX3):c.726CGC[6] (p.Ala250dup)	GBF1, LOC130004591 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2607847	NM_005029.4(PITX3):c.740C>T (p.Ala247Val)	GBF1, LOC130004591 +1 more (A247V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635698	NM_005029.4(PITX3):c.703G>A (p.Val235Met)	GBF1, LOC130004591 +1 more (V235M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2079724	NM_005029.4(PITX3):c.699G>A (p.Gly233=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2412872	NM_005029.4(PITX3):c.682G>A (p.Ala228Thr)	GBF1, LOC130004591 +1 more (A228T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3213322	NM_005029.4(PITX3):c.677C>A (p.Ala226Asp)	GBF1, LOC130004591 +1 more (A226D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361463	NM_005029.4(PITX3):c.677C>T (p.Ala226Val)	GBF1, LOC130004591 +1 more (A226V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2968291	NM_005029.4(PITX3):c.669C>T (p.Pro223=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025816	NM_005029.4(PITX3):c.662G>C (p.Gly221Ala)	GBF1, PITX3 (G221A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894634	NM_005029.4(PITX3):c.661G>A (p.Gly221Ser)	GBF1, PITX3 (G221S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 468353	NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)	GBF1, PITX3 (G220fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 468252	NM_005029.4(PITX3):c.640_656del (p.Ala214fs)	GBF1, PITX3 (A214fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 6939	NM_005029.4(PITX3):c.650del (p.Gly217fs)	PITX3, GBF1 (G217fs)	Deletion (frameshift variant)	Cataract 11, posterior polar +1 more	GPathogenic
Select item 372897	NM_005029.4(PITX3):c.646C>T (p.Gln216Ter)	GBF1, PITX3 (Q216*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1456216	NM_005029.4(PITX3):c.636_637dup (p.Gly213fs)	GBF1, PITX3 (G213fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1500829	NM_005029.4(PITX3):c.617del (p.Pro206fs)	GBF1, PITX3 (P206fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2722578	NM_005029.4(PITX3):c.586G>A (p.Ala196Thr)	GBF1, PITX3 (A196T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2483932	NM_005029.4(PITX3):c.524A>C (p.Asn175Thr)	GBF1, PITX3 (N175T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030213	NM_005029.4(PITX3):c.483T>G (p.Leu161=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 3213321	NM_005029.4(PITX3):c.464A>G (p.Asn155Ser)	GBF1, PITX3 (N155S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1035812	NM_005029.4(PITX3):c.448G>T (p.Gly150Cys)	GBF1, PITX3 (G150C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040191	NM_005029.4(PITX3):c.445C>A (p.Pro149Thr)	GBF1, PITX3 (P149T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836795	NM_005029.4(PITX3):c.441G>T (p.Val147=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 468251	NM_005029.4(PITX3):c.414G>T (p.Gly138=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1306042	NM_005029.4(PITX3):c.397T>C (p.Phe133Leu)	GBF1, PITX3 (F133L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 583055	NM_005029.4(PITX3):c.388A>T (p.Lys130Ter)	GBF1, PITX3 (K130*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2190037	NM_005029.4(PITX3):c.322-11C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218752	NM_005029.4(PITX3):c.322-132C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246648	NM_005029.4(PITX3):c.321+142C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671634	NM_005029.4(PITX3):c.285C>A (p.Ile95=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196404	NM_005029.4(PITX3):c.285C>T (p.Ile95=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3213319	NM_005029.4(PITX3):c.269G>C (p.Ser90Thr)	GBF1, PITX3 (S90T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640787	NM_005029.4(PITX3):c.234G>A (p.Glu78=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015982	NM_005029.4(PITX3):c.185A>G (p.Gln62Arg)	GBF1, PITX3 (Q62R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434868	NM_005029.4(PITX3):c.181A>C (p.Lys61Gln)	GBF1, PITX3 (K61Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3213318	NM_005029.4(PITX3):c.114C>A (p.His38Gln)	GBF1, PITX3 (H38Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1301674	NM_005029.4(PITX3):c.88G>A (p.Glu30Lys)	GBF1, PITX3 (E30K)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis 1	GUncertain significance
Select item 1025063	NM_005029.4(PITX3):c.55T>A (p.Ser19Thr)	GBF1, PITX3 (S19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283807	NM_005029.4(PITX3):c.42T>C (p.Pro14=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 6938	NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)	GBF1, PITX3 (S13N)	Single nucleotide variant (missense variant)	Cataract 11 multiple types	GPathogenic
Select item 2146233	NM_005029.4(PITX3):c.34C>G (p.Arg12Gly)	GBF1, PITX3 (R12G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015864	NM_005029.4(PITX3):c.32C>T (p.Ala11Val)	GBF1, PITX3 (A11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2234383	NM_005029.4(PITX3):c.14T>C (p.Leu5Pro)	GBF1, PITX3 (L5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1286452	NM_005029.4(PITX3):c.-12-273A>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 2576183	NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter)	GBF1 (R25*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2550061	NM_001377137.1(GBF1):c.83C>G (p.Thr28Ser)	GBF1 (T28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1479586	NM_001377137.1(GBF1):c.218G>T (p.Arg73Leu)	GBF1 (R73L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2273357	NM_001377137.1(GBF1):c.314C>T (p.Thr105Ile)	GBF1 (T105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774559	NM_001377137.1(GBF1):c.524-7T>C	GBF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3236643	NM_001377137.1(GBF1):c.556G>C (p.Val186Leu)	GBF1 (V186L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, dominant intermediate A +1 more	GUncertain significance
Select item 2350045	NM_001377137.1(GBF1):c.562A>G (p.Met188Val)	GBF1 (M188V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2683123	NM_001377137.1(GBF1):c.684G>T (p.Lys228Asn)	GBF1 (K228N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3098863	NM_001377137.1(GBF1):c.713G>A (p.Arg238His)	GBF1 (R271H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223424	NM_001377137.1(GBF1):c.758A>G (p.Asn253Ser)	GBF1 (N253S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288811	NM_001377137.1(GBF1):c.764C>T (p.Thr255Ile)	GBF1 (T288I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274258	NM_001377137.1(GBF1):c.824C>T (p.Ser275Phe)	GBF1 (S275F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098864	NM_001377137.1(GBF1):c.890C>T (p.Ser297Phe)	GBF1 (S297F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283985	NM_001377137.1(GBF1):c.958G>T (p.Ala320Ser)	GBF1 (A353S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283986	NM_001377137.1(GBF1):c.959C>A (p.Ala320Asp)	GBF1 (A320D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2630853	NM_001377137.1(GBF1):c.991C>T (p.Pro331Ser)	GBF1 (P331S +2 more)	Single nucleotide variant (missense variant +1 more)	GBF1-related disorder	GUncertain significance
Select item 2380377	NM_001377137.1(GBF1):c.1006C>T (p.Leu336Phe)	GBF1 (L336F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098845	NM_001377137.1(GBF1):c.1079A>T (p.Glu360Val)	GBF1 (E392V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480293	NM_001377137.1(GBF1):c.1199A>G (p.Tyr400Cys)	GBF1 (Y400C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098846	NM_001377137.1(GBF1):c.1331T>G (p.Val444Gly)	GBF1 (V444G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383165	NM_001377137.1(GBF1):c.1409G>A (p.Arg470Gln)	GBF1 (R469Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475860	NM_001377137.1(GBF1):c.1558G>C (p.Glu520Gln)	GBF1 (E519Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2833834	NM_001377137.1(GBF1):c.1621A>C (p.Ile541Leu)	GBF1, LOC129390225 (I541L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3098847	NM_001377137.1(GBF1):c.1759G>C (p.Asp587His)	GBF1 (D611H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620136	NM_001377137.1(GBF1):c.1774C>G (p.His592Asp)	GBF1 (H591D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365882	NM_001377137.1(GBF1):c.1805C>G (p.Thr602Ser)	GBF1 (T503S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490068	NM_001377137.1(GBF1):c.1847T>C (p.Ile616Thr)	GBF1 (I616T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238438	NM_001377137.1(GBF1):c.1866A>T (p.Glu622Asp)	GBF1 (E523D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238439	NM_001377137.1(GBF1):c.1867G>T (p.Ala623Ser)	GBF1 (A623S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343640	NM_001377137.1(GBF1):c.1914G>A (p.Met638Ile)	GBF1 (M511I +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098849	NM_001377137.1(GBF1):c.1924A>G (p.Ile642Val)	GBF1 (I641V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387401	NM_001377137.1(GBF1):c.1955G>A (p.Arg652Gln)	GBF1 (R525Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277704	NM_001377137.1(GBF1):c.2027A>T (p.Lys676Met)	GBF1 (K577M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204147	NM_001377137.1(GBF1):c.2173A>G (p.Lys725Glu)	GBF1 (K677E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098850	NM_001377137.1(GBF1):c.2204C>T (p.Thr735Ile)	GBF1 (T608I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221217	NM_001377137.1(GBF1):c.2225G>A (p.Arg742Gln)	GBF1 (R643Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098851	NM_001377137.1(GBF1):c.2276G>A (p.Arg759His)	GBF1 (R632H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640788	NM_001377137.1(GBF1):c.2358C>T (p.Tyr786=)	GBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3098852	NM_001377137.1(GBF1):c.2420C>A (p.Thr807Lys)	GBF1 (T759K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098853	NM_001377137.1(GBF1):c.2426G>A (p.Arg809His)	GBF1 (R761H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098854	NM_001377137.1(GBF1):c.2723G>A (p.Gly908Asp)	GBF1 (G809D +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1521842	NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs)	GBF1 (P812fs +7 more)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG +1 more	GUncertain significance
Select item 2516028	NM_001377137.1(GBF1):c.2749C>T (p.Arg917Cys)	GBF1 (R869C +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098855	NM_001377137.1(GBF1):c.2819C>T (p.Ser940Phe)	GBF1 (S841F +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395577	NM_001377137.1(GBF1):c.2887G>A (p.Ala963Thr)	GBF1 (A836T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 972907	NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)	GBF1 (C884Y +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG +1 more	GPathogenic/Likely pathogenic
Select item 2455447	NM_001377137.1(GBF1):c.3056G>A (p.Arg1019His)	GBF1 (R1043H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336631	NM_001377137.1(GBF1):c.3073C>T (p.Arg1025Trp)	GBF1 (R1012W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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