"GeneDx"[submitter] AND "HADHB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 335393	NM_000183.2(HADHB):c.-214C>T	HADHA, HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency +2 more	GBenign/Likely benign
Select item 335395	NM_000183.2(HADHB):c.-201G>A	HADHA, HADHB	Single nucleotide variant	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 515739	NM_000183.3(HADHB):c.-43G>A	HADHB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1249719	NM_000183.3(HADHB):c.-9+274GT[6]	HADHB	Microsatellite (intron variant)	not provided	GBenign
Select item 1242929	NM_000183.3(HADHB):c.-9+275T>G	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676138	NM_000183.3(HADHB):c.-8-138A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418241	NM_000183.3(HADHB):c.1A>G (p.Met1Val)	HADHB (M1V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 92600	NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)	HADHB	Duplication (inframe_insertion +1 more)	Mitochondrial trifunctional protein deficiency +1 more	GBenign
Select item 1235450	NM_000183.3(HADHB):c.5_6insCTA (p.Thr2_Ile3insTyr)	HADHB	Insertion (inframe_insertion +1 more)	not provided	GBenign
Select item 335401	NM_000183.3(HADHB):c.64+11T>C	HADHB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 422671	NM_000183.3(HADHB):c.64+15del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1200993	NM_000183.3(HADHB):c.65-54C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200463	NM_000183.3(HADHB):c.109+208A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680605	NM_000183.3(HADHB):c.109+308G>A	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675544	NM_000183.3(HADHB):c.110-2189AAC[3]	HADHB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1253417	NM_000183.3(HADHB):c.110-2158dup	HADHB	Duplication (intron variant)	not provided	GBenign
Select item 1175595	NM_000183.3(HADHB):c.110-2159_110-2158dup	HADHB	Duplication (intron variant)	not provided	GBenign
Select item 1275190	NM_000183.3(HADHB):c.110-2158del	HADHB	Deletion (intron variant)	not provided	GBenign
Select item 1252558	NM_000183.3(HADHB):c.110-2123A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270667	NM_000183.3(HADHB):c.110-65del	HADHB	Deletion (intron variant)	not provided	GBenign
Select item 509461	NM_000183.3(HADHB):c.171G>A (p.Val57=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 430537	NM_000183.3(HADHB):c.173A>G (p.Asp58Gly)	HADHB (D58G +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 449456	NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	HADHB (R61C +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 14845	NM_000183.3(HADHB):c.182G>A (p.Arg61His)	HADHB (R61H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1254151	NM_000183.3(HADHB):c.210-136_210-123del	HADHB	Deletion (intron variant)	not provided	GLikely benign
Select item 509444	NM_000183.3(HADHB):c.210-9G>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 418243	NM_000183.3(HADHB):c.210-1G>T	HADHB	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial trifunctional protein deficiency 1 +2 more	GPathogenic/Likely pathogenic
Select item 92599	NM_000183.3(HADHB):c.246A>G (p.Ala82=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 431987	NM_000183.3(HADHB):c.254+1G>A	HADHB	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 468766	NM_000183.3(HADHB):c.254+8A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1211360	NM_000183.3(HADHB):c.255-210C>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235515	NM_000183.3(HADHB):c.255-95C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386914	NM_000183.3(HADHB):c.279C>G (p.Val93=)	HADHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1196851	NM_000183.3(HADHB):c.354+100G>C	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235337	NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	HADHB (T133A +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1199800	NM_000183.3(HADHB):c.442+95dup	HADHB	Duplication (intron variant)	not provided	GLikely benign
Select item 1294379	NM_000183.3(HADHB):c.442+94_442+95del	HADHB	Deletion (intron variant)	not provided	GBenign
Select item 1272884	NM_000183.3(HADHB):c.442+95del	HADHB	Deletion (intron variant)	not provided	GBenign
Select item 1200263	NM_000183.3(HADHB):c.442+92_442+95del	HADHB	Deletion (intron variant)	not provided	GLikely benign
Select item 1218947	NM_000183.3(HADHB):c.442+659_442+660del	HADHB	Deletion (intron variant)	not provided	GLikely benign
Select item 1198771	NM_000183.3(HADHB):c.443-679T>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208647	NM_000183.3(HADHB):c.443-678C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676216	NM_000183.3(HADHB):c.443-93C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 897804	NM_000183.3(HADHB):c.443-10T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 1200629	NM_000183.3(HADHB):c.514C>T (p.Pro172Ser)	HADHB (P150S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 335405	NM_000183.3(HADHB):c.560A>G (p.Asn187Ser)	HADHB (N187S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 424236	NM_000183.3(HADHB):c.565G>A (p.Ala189Thr)	HADHB (A189T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1526383	NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	HADHB (R173* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 450898	NM_000183.3(HADHB):c.589T>C (p.Ser197Pro)	HADHB (S197P +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GUncertain significance
Select item 509469	NM_000183.3(HADHB):c.630+18A>G	HADHB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1257294	NM_000183.3(HADHB):c.631-50C>A	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 897806	NM_000183.3(HADHB):c.640G>A (p.Val214Ile)	HADHB (V199I +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GUncertain significance
Select item 2430804	NM_000183.3(HADHB):c.673C>A (p.His225Asn)	HADHB (H203N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429516	NM_000183.3(HADHB):c.686G>A (p.Arg229Gln)	HADHB (R229Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431822	NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)	HADHB (A218fs +2 more)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 14846	NM_000183.3(HADHB):c.740G>A (p.Arg247His)	HADHB (R247H +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 1 +2 more	GPathogenic/Likely pathogenic
Select item 1698236	NM_000183.3(HADHB):c.745C>G (p.His249Asp)	HADHB (H227D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203748	NM_000183.3(HADHB):c.780C>T (p.Leu260=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 513726	NM_000183.3(HADHB):c.811+5A>C	HADHB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1194647	NM_000183.3(HADHB):c.812-116T>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181339	NM_000183.3(HADHB):c.812-94C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 203749	NM_000183.3(HADHB):c.812-5A>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +3 more	GBenign
Select item 335407	NM_000183.3(HADHB):c.825T>C (p.Val275=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GBenign
Select item 203750	NM_000183.3(HADHB):c.830A>G (p.Lys277Arg)	HADHB (K277R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +3 more	GBenign/Likely benign
Select item 203751	NM_000183.3(HADHB):c.891C>T (p.Ile297=)	HADHB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 509470	NM_000183.3(HADHB):c.900C>T (p.Tyr300=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190680	NM_000183.3(HADHB):c.933+163C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212318	NM_000183.3(HADHB):c.933+176C>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668558	NM_000183.3(HADHB):c.934-269T>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219958	NM_000183.3(HADHB):c.934-267T>C	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137532	NM_000183.3(HADHB):c.966G>A (p.Ala322=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 515749	NM_000183.3(HADHB):c.1050A>G (p.Gln350=)	HADHB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 203752	NM_000183.3(HADHB):c.1059del (p.Gly354fs)	HADHB (G339fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency 2 +1 more	GPathogenic
Select item 1212081	NM_000183.3(HADHB):c.1061+196G>A	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305534	NM_000183.3(HADHB):c.1064C>T (p.Pro355Leu)	HADHB (P333L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 849588	NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)	HADHB (D357V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 706365	NM_000183.3(HADHB):c.1119T>C (p.Ile373=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1806798	NM_000183.3(HADHB):c.1137del (p.His379fs)	HADHB (H357fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic
Select item 92597	NM_000183.3(HADHB):c.1149+4A>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +2 more	GBenign
Select item 1253840	NM_000183.3(HADHB):c.1149+34A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675558	NM_000183.3(HADHB):c.1149+118A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201981	NM_000183.3(HADHB):c.1149+275del	HADHB	Deletion (intron variant)	not provided	GLikely benign
Select item 1257989	NM_000183.3(HADHB):c.1150-264A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222130	NM_000183.3(HADHB):c.1150-27T>C	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 703153	NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 424253	NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer)	HADHB	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1208490	NM_000183.3(HADHB):c.1224+56T>A	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214850	NM_000183.3(HADHB):c.1225-100G>A	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263355	NM_000183.3(HADHB):c.1225-88A>G	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218206	NM_000183.3(HADHB):c.1225-64G>A	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 429515	NM_000183.3(HADHB):c.1258T>G (p.Trp420Gly)	HADHB (W420G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1217468	NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	HADHB (F408S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 14849	NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)	HADHB (V433G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 335408	NM_000183.3(HADHB):c.1371G>A (p.Ala457=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GBenign/Likely benign
Select item 450899	NM_000183.3(HADHB):c.1389+8dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 668559	NM_000183.3(HADHB):c.1389+276C>T	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212935	NM_000183.3(HADHB):c.1390-247A>T	HADHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245848	NM_000183.3(HADHB):c.1390-53T>C	HADHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 567720	NM_000183.3(HADHB):c.1390-2A>G	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency 1 +2 more	GConflicting classifications of pathogenicity

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