ClinVar for Gene (Select 85476) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379510	NM_024996.7(GFM1):c.221C>T (p.Ala74Val)	GFM1 (A74V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360294	NM_024996.7(GFM1):c.1511A>G (p.Tyr504Cys)	GFM1 (Y276C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359333	NM_024996.7(GFM1):c.1848C>A (p.His616Gln)	GFM1 (H388Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339993	NC_000003.11:g.(?_158362315)_(158413371_?)dup	GFM1, LXN	Duplication	not specified	GUncertain significance
Select item 3292345	NM_020169.4(LXN):c.322C>G (p.Gln108Glu)	GFM1, LXN (Q108E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292344	NM_020169.4(LXN):c.65A>G (p.Asn22Ser)	GFM1, LXN (N22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292342	NM_020169.4(LXN):c.208T>C (p.Cys70Arg)	GFM1, LXN (C70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281241	NM_024996.7(GFM1):c.1138A>G (p.Lys380Glu)	GFM1 (K152E +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3281239	NM_024996.7(GFM1):c.73A>G (p.Arg25Gly)	GFM1 (R25G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3281238	NM_024996.7(GFM1):c.479G>A (p.Arg160His)	GFM1 (R160H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3247044	NC_000003.11:g.(?_158369865)_(158409256_?)del	GFM1, LXN	Deletion	not provided	GPathogenic
Select item 3247043	NC_000003.11:g.(?_158362424)_(158370055_?)del	GFM1	Deletion	not provided	GPathogenic
Select item 3247042	NC_000003.11:g.(?_158362424)_(158384195_?)del	GFM1	Deletion	not provided	GPathogenic
Select item 3241704	NM_024996.7(GFM1):c.2125-1G>A	GFM1	Single nucleotide variant (splice acceptor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241703	NM_024996.7(GFM1):c.1083+1G>C	GFM1	Single nucleotide variant (splice donor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241702	NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)	GFM1 (Y471* +7 more)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241701	NM_024996.7(GFM1):c.323dup (p.Tyr108Ter)	GFM1 (Y108* +1 more)	Duplication (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241700	NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)	GFM1 (C288* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241699	NM_024996.7(GFM1):c.287_288del (p.Arg96fs)	GFM1 (R21fs +1 more)	Microsatellite (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241698	NM_024996.7(GFM1):c.548del (p.Pro183fs)	GFM1 (P108fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3099450	NM_024996.7(GFM1):c.614T>C (p.Met205Thr)	GFM1 (M205T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099449	NM_024996.7(GFM1):c.1535A>T (p.Tyr512Phe)	GFM1 (Y437F +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099448	NM_024996.7(GFM1):c.1207G>A (p.Ala403Thr)	GFM1 (A403T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3064552	NM_024996.7(GFM1):c.1764+2T>C	GFM1 (V589A)	Single nucleotide variant (missense variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3064006	NM_024996.7(GFM1):c.961T>C (p.Ser321Pro)	GFM1 (S132P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057665	NM_024996.7(GFM1):c.1503G>T (p.Leu501=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	GFM1-related disorder	GLikely benign
Select item 3054321	NM_024996.7(GFM1):c.102A>G (p.Arg34=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	GFM1-related disorder	GLikely benign
Select item 3051235	NM_024996.7(GFM1):c.689+884T>C	GFM1	Single nucleotide variant (synonymous variant +1 more)	GFM1-related disorder	GLikely benign
Select item 3043258	NM_024996.7(GFM1):c.1910-9_1910-8del	GFM1	Deletion (intron variant)	GFM1-related disorder	GLikely benign
Select item 3021063	NM_024996.7(GFM1):c.906G>A (p.Lys302=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020441	NM_024996.7(GFM1):c.572+7A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019527	NM_024996.7(GFM1):c.573-18T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016859	NM_024996.7(GFM1):c.690-19A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016428	NM_024996.7(GFM1):c.204C>T (p.Tyr68=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016261	NM_024996.7(GFM1):c.999-19A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016000	NM_024996.7(GFM1):c.573-17G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015113	NM_024996.7(GFM1):c.840+12C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013892	NM_024996.7(GFM1):c.690-13T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013571	NM_024996.7(GFM1):c.81+17A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3013234	NM_024996.7(GFM1):c.1800T>C (p.Ser600=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012434	NM_024996.7(GFM1):c.900C>T (p.Ala300=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011628	NM_024996.7(GFM1):c.1764+18T>C	GFM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3010749	NM_024996.7(GFM1):c.948C>T (p.Tyr316=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008408	NM_024996.7(GFM1):c.1380+9T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007912	NM_024996.7(GFM1):c.367+15T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007584	NM_024996.7(GFM1):c.1212C>T (p.Asp404=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3005859	NM_024996.7(GFM1):c.81+13A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3004728	NM_024996.7(GFM1):c.998+20T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003353	NM_024996.7(GFM1):c.999-7T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001387	NM_024996.7(GFM1):c.998+10G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000155	NM_024996.7(GFM1):c.1909+20C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998268	NM_024996.7(GFM1):c.1519-1G>C	GFM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2997291	NM_024996.7(GFM1):c.234+7dup	GFM1	Duplication (intron variant)	not provided	GLikely benign
Select item 2993591	NM_024996.7(GFM1):c.1084-13T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993203	NM_024996.7(GFM1):c.183A>G (p.Thr61=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2993019	NM_024996.7(GFM1):c.857del (p.Ala286fs)	GFM1 (A58fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2989625	NM_024996.7(GFM1):c.81+12T>C	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2989400	NM_024996.7(GFM1):c.2071-12G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986463	NM_024996.7(GFM1):c.1221+8C>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984652	NM_024996.7(GFM1):c.368-5T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978784	NM_024996.7(GFM1):c.1381-13T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977688	NM_024996.7(GFM1):c.945A>G (p.Glu315=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976484	NM_024996.7(GFM1):c.2028T>A (p.Thr676=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976196	NM_024996.7(GFM1):c.30G>A (p.Ala10=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2975833	NM_024996.7(GFM1):c.234+13G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972739	NM_024996.7(GFM1):c.1910-9T>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972425	NM_024996.7(GFM1):c.363T>A (p.Thr121=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2968269	NM_024996.7(GFM1):c.2125-28_2125-17del	GFM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2967981	NM_024996.7(GFM1):c.572+15A>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965308	NM_024996.7(GFM1):c.82-14C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964508	NM_024996.7(GFM1):c.368-14_368-12del	GFM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2962218	NM_024996.7(GFM1):c.213C>T (p.Gly71=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2957392	NM_024996.7(GFM1):c.691C>T (p.Gln231Ter)	GFM1 (Q231* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2956775	NM_024996.7(GFM1):c.2124+20C>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955564	NM_024996.7(GFM1):c.1518+16_1518+19del	GFM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2919887	NM_024996.7(GFM1):c.2071-16_2071-14del	GFM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2919867	NM_024996.7(GFM1):c.1222-14_1222-11del	GFM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2916599	NM_024996.7(GFM1):c.2124+20C>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916503	NM_024996.7(GFM1):c.82-13G>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916502	NM_024996.7(GFM1):c.1084-18C>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915595	NM_024996.7(GFM1):c.1084-15A>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915251	NM_024996.7(GFM1):c.1765-11T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915050	NM_024996.7(GFM1):c.1401A>G (p.Ser467=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913711	NM_024996.7(GFM1):c.1324-9dup	GFM1	Duplication (intron variant)	not provided	GBenign
Select item 2913600	NM_024996.7(GFM1):c.1601+13C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911753	NM_024996.7(GFM1):c.689+20T>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907171	NM_024996.7(GFM1):c.1221+16T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903384	NM_024996.7(GFM1):c.572+17T>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902907	NM_024996.7(GFM1):c.1381-15C>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899866	NM_024996.7(GFM1):c.1890A>G (p.Gly630=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899865	NM_024996.7(GFM1):c.1479A>T (p.Ile493=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895690	NM_024996.7(GFM1):c.368-14T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892107	NM_024996.7(GFM1):c.1909+16del	GFM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2891548	NM_024996.7(GFM1):c.2125-17T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890922	NM_024996.7(GFM1):c.81+18G>A	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2890290	NM_024996.7(GFM1):c.1323+9T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889564	NM_024996.7(GFM1):c.1380+11G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889378	NM_024996.7(GFM1):c.207C>T (p.Tyr69=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2887788	NM_024996.7(GFM1):c.81+11A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2886245	NM_024996.7(GFM1):c.1909+14G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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