ClinVar for Gene (Select 3032) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359235	NM_000183.3(HADHB):c.1390-515_1390-499del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency 2	GPathogenic
Select item 3339681	NM_000183.3(HADHB):c.725A>G (p.Asp242Gly)	HADHB (D220G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337159	NM_000183.3(HADHB):c.248C>G (p.Ala83Gly)	HADHB (A61G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3283420	NM_000183.3(HADHB):c.734C>T (p.Ala245Val)	HADHB (A223V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283419	NM_000183.3(HADHB):c.1015G>A (p.Asp339Asn)	HADHB (D317N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247340	NC_000002.11:g.(?_26414119)_(26502265_?)del	HADHA, HADHB	Deletion	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 3247339	NC_000002.11:g.(?_26486228)_(26781439_?)del	ADGRF3, DRC1 +3 more	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247336	NC_000002.11:g.(?_26477123)_(26486367_?)del	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247335	NC_000002.11:g.(?_26507731)_(26512821_?)del	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247334	NC_000002.11:g.(?_26506965)_(26508459_?)del	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247333	NC_000002.11:g.(?_26505693)_(26508459_?)del	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247332	NC_000002.11:g.(?_26486228)_(26486367_?)del	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3247331	NC_000002.11:g.(?_26426911)_(26512821_?)del	HADHA, HADHB	Deletion	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 3241735	NM_000183.3(HADHB):c.184A>G (p.Thr62Ala)	HADHB (T40A +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
Select item 3241734	NM_000183.3(HADHB):c.933+1G>T	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
Select item 3241733	NM_000183.3(HADHB):c.1259G>A (p.Trp420Ter)	HADHB (W398* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
Select item 3237180	NM_000183.3(HADHB):c.1174_1176del (p.Ala392del)	HADHB (A370del +2 more)	Deletion (inframe_deletion)	Mitochondrial trifunctional protein deficiency 2	GLikely pathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3104144	NM_000183.3(HADHB):c.728A>G (p.Glu243Gly)	HADHB (E221G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104142	NM_000183.3(HADHB):c.1201A>G (p.Asn401Asp)	HADHB (N401D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062643	GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1	ADGRF3, ASXL2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3053648	NM_000183.3(HADHB):c.1203C>T (p.Asn401=)	HADHB	Single nucleotide variant (synonymous variant)	HADHB-related disorder	GLikely benign
Select item 3051929	NM_000183.3(HADHB):c.442+665A>G	HADHB	Single nucleotide variant (intron variant)	HADHB-related disorder	GLikely benign
Select item 3048036	NM_000183.3(HADHB):c.1389+4C>G	HADHB	Single nucleotide variant (intron variant)	HADHB-related disorder	GLikely benign
Select item 3021457	NM_000183.3(HADHB):c.933+8T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3018516	NM_000183.3(HADHB):c.897C>T (p.Pro299=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3017580	NM_000183.3(HADHB):c.714G>A (p.Arg238=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3015493	NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3015461	NM_000183.3(HADHB):c.1212T>C (p.Gly404=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3013367	NM_000183.3(HADHB):c.355-13_355-12del	HADHB	Microsatellite (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3012918	NM_000183.3(HADHB):c.741C>T (p.Arg247=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3009719	NM_000183.3(HADHB):c.1224+1G>A	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 3008950	NM_000183.3(HADHB):c.1389+10A>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3008736	NM_000183.3(HADHB):c.924T>G (p.Ser308=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3008578	NM_000183.3(HADHB):c.1353G>A (p.Gln451=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3006020	NM_000183.3(HADHB):c.1225-11G>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3003819	NM_000183.3(HADHB):c.254+17T>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3003061	NM_000183.3(HADHB):c.1014-4C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2999651	NM_000183.3(HADHB):c.64+22dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 2999479	NM_000183.3(HADHB):c.417C>T (p.Ile139=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2999014	NM_000183.3(HADHB):c.65-15T>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2997573	NM_000183.3(HADHB):c.1309T>C (p.Leu437=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2995983	NM_000183.3(HADHB):c.204C>T (p.Gly68=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2993812	NM_000183.3(HADHB):c.934-16C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2993781	NM_000183.3(HADHB):c.631-11T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2991276	NM_000183.3(HADHB):c.451T>C (p.Leu151=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2991000	NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)	HADHB (L11P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2989807	NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)	HADHB (E144K +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2986504	NM_000183.3(HADHB):c.209+20A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2978279	NM_000183.3(HADHB):c.812-14C>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2973968	NM_000183.3(HADHB):c.828C>G (p.Thr276=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2973436	NM_000183.3(HADHB):c.1013+21_1013+25dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2972732	NM_000183.3(HADHB):c.315A>G (p.Thr105=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2969469	NM_000183.3(HADHB):c.933+6del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2969359	NM_000183.3(HADHB):c.564G>A (p.Lys188=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2969132	NM_000183.3(HADHB):c.1350C>A (p.Gly450=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2963819	NM_000183.3(HADHB):c.138A>G (p.Leu46=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2960755	NM_000183.3(HADHB):c.210-10C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2959582	NM_000183.3(HADHB):c.812-6dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 2958677	NM_000183.3(HADHB):c.1062-9dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 2957115	NM_000183.3(HADHB):c.168G>T (p.Val56=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2956781	NM_000183.3(HADHB):c.934-13G>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2921082	NM_000183.3(HADHB):c.110-2353C>T	HADHB	Single nucleotide variant (intron variant +1 more)	Mitochondrial trifunctional protein deficiency 2	GLikely benign
Select item 2916798	NM_000183.3(HADHB):c.1359C>T (p.Gly453=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2915567	NM_000183.3(HADHB):c.1296C>T (p.Ala432=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2915335	NM_000183.3(HADHB):c.355-11A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2914656	NM_000183.3(HADHB):c.747C>T (p.His249=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2913691	NM_000183.3(HADHB):c.812-16T>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2912493	NM_000183.3(HADHB):c.631-17G>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2910569	NM_000183.3(HADHB):c.210-4C>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2904658	NM_000183.3(HADHB):c.945A>G (p.Ala315=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2904538	NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)	HADHB (Q328K +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2903700	NM_000183.3(HADHB):c.678T>A (p.Ser226=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2903461	NM_000183.3(HADHB):c.1098A>G (p.Ala366=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2900969	NM_000183.3(HADHB):c.807A>C (p.Val269=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2893687	NM_000183.3(HADHB):c.1062-14T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2893090	NM_000183.3(HADHB):c.1173A>G (p.Lys391=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2892948	NM_000183.3(HADHB):c.1014-2A>T	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2890693	NM_000183.3(HADHB):c.354+20T>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2889121	NM_000183.3(HADHB):c.762G>A (p.Lys254=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2889117	NM_000183.3(HADHB):c.1062-18_1062-15del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2888680	NM_000183.3(HADHB):c.651C>T (p.Phe217=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2885316	NM_000183.3(HADHB):c.480C>T (p.Ile160=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2882504	NM_000183.3(HADHB):c.699C>T (p.Ala233=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2881900	NM_000183.3(HADHB):c.631-16A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2881452	NM_000183.3(HADHB):c.399T>C (p.Thr133=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2879472	NM_000183.3(HADHB):c.812-2A>G	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 2879432	NM_000183.3(HADHB):c.631-9C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2878925	NM_000183.3(HADHB):c.811+2T>G	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2876512	NM_000183.3(HADHB):c.1009T>C (p.Leu337=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2876369	NM_000183.3(HADHB):c.1150-1G>C	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2875834	NM_000183.3(HADHB):c.1137T>C (p.His379=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2874962	NM_000183.3(HADHB):c.21C>T (p.Pro7=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2874353	NM_000183.3(HADHB):c.162T>C (p.Val54=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2866836	NM_000183.3(HADHB):c.1368T>C (p.Ala456=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2866691	NM_000183.3(HADHB):c.1150-19C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2863663	NM_000183.3(HADHB):c.162T>A (p.Val54=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2861163	NM_000183.3(HADHB):c.1284C>T (p.His428=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2859253	NM_000183.3(HADHB):c.355-20A>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2859010	NM_000183.3(HADHB):c.209+14_209+15del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign

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