ClinVar for OMIM (Select 229700) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

Items: 1 to 100 of 278

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250461	NM_000507.4(FBP1):c.509del (p.Ser170fs)	FBP1 (S170fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GLikely pathogenic
Select item 3245073	NC_000009.11:g.(?_97355088)_(97365840_?)del	FBP1, FBP2	Deletion	Fructose-biphosphatase deficiency	GPathogenic
Select item 3245072	NC_000009.11:g.(?_97380030)_(97382793_?)del	FBP1	Deletion	Fructose-biphosphatase deficiency	GPathogenic
Select item 3245071	NC_000009.11:g.(?_97401403)_(97401592_?)del	FBP1	Deletion	Fructose-biphosphatase deficiency	GPathogenic
Select item 3023553	NM_000507.4(FBP1):c.171-4G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3022997	NM_000507.4(FBP1):c.597G>A (p.Lys199=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3022276	NM_000507.4(FBP1):c.706-11T>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3020153	NM_000507.4(FBP1):c.390T>C (p.Leu130=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3020034	NM_000507.4(FBP1):c.894T>C (p.Thr298=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3019033	NM_000507.4(FBP1):c.225C>T (p.Asp75=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3018404	NM_000507.4(FBP1):c.826-17C>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3017491	NM_000507.4(FBP1):c.156G>C (p.Ala52=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3017109	NM_000507.4(FBP1):c.966C>T (p.Pro322=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3017028	NM_000507.4(FBP1):c.396C>A (p.Ser132=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3016170	NM_000507.4(FBP1):c.171-11G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3015064	NM_000507.4(FBP1):c.945G>A (p.Ala315=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3009454	NM_000507.4(FBP1):c.333+15C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3006336	NM_000507.4(FBP1):c.705+15G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3005258	NM_000507.4(FBP1):c.333+16C>G	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 3001489	NM_000507.4(FBP1):c.183T>C (p.Ala61=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2999066	NM_000507.4(FBP1):c.144G>T (p.Ala48=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2997283	NM_000507.4(FBP1):c.366T>C (p.Asp122=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2996975	NM_000507.4(FBP1):c.427-2A>G	FBP1	Single nucleotide variant (splice acceptor variant)	Fructose-biphosphatase deficiency	GLikely pathogenic
Select item 2995308	NM_000507.4(FBP1):c.972C>T (p.Asp324=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2991076	NM_000507.4(FBP1):c.981G>A (p.Glu327=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2988768	NM_000507.4(FBP1):c.170+18C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2988192	NM_000507.4(FBP1):c.39C>A (p.Thr13=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2981571	NM_000507.4(FBP1):c.435T>A (p.Thr145=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2980141	NM_000507.4(FBP1):c.420T>C (p.Tyr140=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2977322	NM_000507.4(FBP1):c.504T>C (p.Tyr168=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2974008	NM_000507.4(FBP1):c.825+7G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2964207	NM_000507.4(FBP1):c.957G>A (p.Leu319=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2958693	NM_000507.4(FBP1):c.573C>T (p.Ile191=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2954887	NM_000507.4(FBP1):c.426+12T>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2920795	NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)	FBP1 (R218K)	Indel (missense variant)	Fructose-biphosphatase deficiency	GBenign
Select item 2919937	NM_000507.4(FBP1):c.705+20G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2919918	NM_000507.4(FBP1):c.312C>A (p.Ile104=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2919720	NM_000507.4(FBP1):c.648C>T (p.Tyr216=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2917025	NM_000507.4(FBP1):c.276G>A (p.Thr92=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2914719	NM_000507.4(FBP1):c.84G>C (p.Thr28=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2914634	NM_000507.4(FBP1):c.39C>T (p.Thr13=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2913863	NM_000507.4(FBP1):c.669C>T (p.Ala223=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2913436	NM_000507.4(FBP1):c.381C>T (p.Ile127=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2907312	NM_000507.4(FBP1):c.27G>C (p.Thr9=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2907215	NM_000507.4(FBP1):c.559C>T (p.Leu187=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2903568	NM_000507.4(FBP1):c.468A>G (p.Pro156=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2902938	NM_000507.4(FBP1):c.91T>C (p.Leu31=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2900894	NM_000507.4(FBP1):c.705+16G>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2900563	NM_000507.4(FBP1):c.477C>T (p.Asn159=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2899968	NM_000507.4(FBP1):c.228C>T (p.Val76=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2899025	NM_000507.4(FBP1):c.288G>A (p.Val96=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2894409	NM_000507.4(FBP1):c.520C>T (p.Leu174=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2894132	NM_000507.4(FBP1):c.396C>T (p.Ser132=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2893258	NM_000507.4(FBP1):c.849C>T (p.Asn283=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2891155	NM_000507.4(FBP1):c.288G>T (p.Val96=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2890362	NM_000507.4(FBP1):c.171-17G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2889963	NM_000507.4(FBP1):c.456T>C (p.Asp152=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2886817	NM_000507.4(FBP1):c.66C>G (p.Gly22=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2884229	NM_000507.4(FBP1):c.426+7_426+23del	FBP1	Deletion (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2883034	NM_000507.4(FBP1):c.96C>A (p.Thr32=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2879070	NM_000507.4(FBP1):c.334-12T>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2877588	NM_000507.4(FBP1):c.706-9A>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2875401	NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)	FBP1 (Y241*)	Single nucleotide variant (nonsense)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2873098	NM_000507.4(FBP1):c.63G>A (p.Glu21=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2872419	NM_000507.4(FBP1):c.282_289del (p.Leu95fs)	FBP1 (L95fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2866196	NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)	FBP1 (E109*)	Single nucleotide variant (nonsense)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2865811	NM_000507.4(FBP1):c.1008T>C (p.Ser336=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2860720	NM_000507.4(FBP1):c.426+14T>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2857829	NM_000507.4(FBP1):c.222G>C (p.Leu74=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2854349	NM_000507.4(FBP1):c.30C>T (p.Asp10=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2852850	NM_000507.4(FBP1):c.81C>T (p.Gly27=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2840399	NM_000507.4(FBP1):c.586T>C (p.Leu196=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2837314	NM_000507.4(FBP1):c.801T>C (p.Ala267=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2836807	NM_000507.4(FBP1):c.427-15TCTT[3]	FBP1	Microsatellite (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2834375	NM_000507.4(FBP1):c.861C>T (p.Tyr287=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2832764	NM_000507.4(FBP1):c.740dup (p.Ser248fs)	FBP1 (S248fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2832053	NM_000507.4(FBP1):c.984C>T (p.Phe328=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2829858	NM_000507.4(FBP1):c.170+19G>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2828695	NM_000507.4(FBP1):c.360C>G (p.Pro120=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2828070	NM_000507.4(FBP1):c.860_863dup (p.Met289fs)	FBP1 (M289fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2826430	NM_000507.4(FBP1):c.633C>T (p.Ser211=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2819827	NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)	FBP1 (Y168*)	Single nucleotide variant (nonsense)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2819471	NM_000507.4(FBP1):c.312C>T (p.Ile104=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2818900	NM_000507.4(FBP1):c.450G>A (p.Glu150=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2815753	NM_000507.4(FBP1):c.472C>A (p.Arg158=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2809502	NM_000507.4(FBP1):c.961dup (p.Ser321fs)	FBP1 (S321fs)	Duplication (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2809283	NM_000507.4(FBP1):c.846C>T (p.Cys282=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2806012	NM_000507.4(FBP1):c.120A>G (p.Thr40=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2804832	NM_000507.4(FBP1):c.501G>A (p.Leu167=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2799336	NM_000507.4(FBP1):c.170+7C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2797845	NM_000507.4(FBP1):c.960del (p.Ser321fs)	FBP1 (S321fs)	Deletion (frameshift variant)	Fructose-biphosphatase deficiency	GPathogenic
Select item 2793059	NM_000507.4(FBP1):c.741C>T (p.Gly247=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2792069	NM_000507.4(FBP1):c.170+9G>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2788267	NM_000507.4(FBP1):c.334-5C>G	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2787523	NM_000507.4(FBP1):c.705+14C>G	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2787171	NM_000507.4(FBP1):c.216G>A (p.Lys72=)	FBP1	Single nucleotide variant (synonymous variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2786370	NM_000507.4(FBP1):c.567+9C>A	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2785953	NM_000507.4(FBP1):c.333+8T>C	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2785050	NM_000507.4(FBP1):c.568-13C>T	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign
Select item 2783815	NM_000507.4(FBP1):c.706-12C>G	FBP1	Single nucleotide variant (intron variant)	Fructose-biphosphatase deficiency	GLikely benign

<< First< Prev

Page of 3