3032[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 153511	GRCh38/hg38 2p23.3(chr2:25819153-26272376)x1	LOC129933321, ASXL2 +15 more	Copy number loss	See cases	GUncertain significance
Select item 335392	NM_000183.2(HADHB):c.-235delT	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335393	NM_000183.2(HADHB):c.-214C>T	HADHA, HADHB	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 335394	NM_000183.2(HADHB):c.-202G>A	HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency	GUncertain significance
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 335396	NM_000183.2(HADHB):c.-185G>C	HADHA, HADHB	Single nucleotide variant	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 335397	NM_000183.2(HADHB):c.-176G>T	HADHB	Single nucleotide variant	HADHB-related condition +1 more	GConflicting classifications of pathogenicity
Select item 335398	NM_000183.2(HADHB):c.-173T>C	HADHA, HADHB	Single nucleotide variant	HADHA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 335399	NM_000183.2(HADHB):c.-124C>G	HADHA, HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 895923	NM_000183.3(HADHB):c.-53C>T	HADHB	Single nucleotide variant (5 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 515739	NM_000183.3(HADHB):c.-43G>A	HADHB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 335400	NM_000183.3(HADHB):c.-9+11G>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
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)	not specified +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 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 1939889	NM_000183.3(HADHB):c.21C>G (p.Pro7=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	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 2193793	NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)	HADHB (W17*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 2800534	NM_000183.3(HADHB):c.54C>T (p.Ala18=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2045586	NM_000183.3(HADHB):c.57C>T (p.Leu19=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 1975935	NM_000183.3(HADHB):c.64+7TTA[2]	HADHB	Microsatellite (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2804197	NM_000183.3(HADHB):c.64+10T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 335401	NM_000183.3(HADHB):c.64+11T>C	HADHB	Single nucleotide variant (intron variant)	HADHB-related condition +2 more	GBenign/Likely benign
Select item 2028626	NM_000183.3(HADHB):c.64+13T>C	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 896201	NM_000183.3(HADHB):c.64+15A>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GConflicting classifications of pathogenicity
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 1984415	NM_000183.3(HADHB):c.65-19A>G	HADHB	Single nucleotide variant (intron 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 2800603	NM_000183.3(HADHB):c.65-9G>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2799799	NM_000183.3(HADHB):c.65-8T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 1018457	NM_000183.3(HADHB):c.65C>G (p.Ser22Cys)	HADHB (S22C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2595603	NM_000183.3(HADHB):c.67A>G (p.Ile23Val)	HADHB (I23V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1438678	NM_000183.3(HADHB):c.74C>T (p.Pro25Leu)	HADHB (P25L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 1950365	NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)	HADHB (S27T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2081935	NM_000183.3(HADHB):c.87C>T (p.Ser29=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2120497	NM_000183.3(HADHB):c.90C>T (p.Ser30=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 1113280	NM_000183.3(HADHB):c.90C>G (p.Ser30=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2145161	NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)	HADHB (Q31E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 1075534	NM_000183.3(HADHB):c.97C>T (p.Arg33Ter)	HADHB (R33*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 1357404	NM_000183.3(HADHB):c.98G>A (p.Arg33Gln)	HADHB (R33Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2161419	NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)	HADHB (P36S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2155029	NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)	HADHB (A37P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1162917	NM_000183.3(HADHB):c.109+4C>T	HADHB	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2179048	NM_000183.3(HADHB):c.109+5A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
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 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 1298796	NM_000183.3(HADHB):c.110-2351G>T	HADHB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 830363	NM_000183.3(HADHB):c.110-2324G>C	HADHB (W12C)	Single nucleotide variant (intron variant +1 more)	Renal tubular acidosis +2 more	GUncertain significance
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 2097923	NM_000183.3(HADHB):c.110-2A>T	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2764969	NM_000183.3(HADHB):c.110-1G>A	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 808705	NM_000183.3(HADHB):c.111T>C (p.Ala37=)	HADHB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1979779	NM_000183.3(HADHB):c.112G>T (p.Val38Phe)	HADHB (V38F +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 1534588	NM_000183.3(HADHB):c.126G>A (p.Thr42=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 999627	NM_000183.3(HADHB):c.134C>T (p.Thr45Met)	HADHB (T23M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2796157	NM_000183.3(HADHB):c.135G>T (p.Thr45=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 335402	NM_000183.3(HADHB):c.135G>A (p.Thr45=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GBenign/Likely 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 2123901	NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)	HADHB (N28K +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2672802	NM_000183.3(HADHB):c.154A>T (p.Arg52Trp)	HADHB (R30W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2863663	NM_000183.3(HADHB):c.162T>A (p.Val54=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2070377	NM_000183.3(HADHB):c.166G>T (p.Val56Leu)	HADHB (V56L +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
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 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)	not provided +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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14845	NM_000183.3(HADHB):c.182G>A (p.Arg61His)	HADHB (R61H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2733615	NM_000183.3(HADHB):c.183C>T (p.Arg61=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2812329	NM_000183.3(HADHB):c.189A>T (p.Pro63=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2633541	NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)	HADHB (T47fs +1 more)	Duplication (frameshift variant)	HADHB-related condition +1 more	GPathogenic/Likely pathogenic
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 2079809	NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)	HADHB (T47S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2675985	NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)	HADHB (S48* +2 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 2675999	NM_000183.3(HADHB):c.209+1G>C	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 225385	NM_000183.3(HADHB):c.209+1G>A	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 733600	NM_000183.3(HADHB):c.209+7A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2848169	NM_000183.3(HADHB):c.209+10A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2697857	NM_000183.3(HADHB):c.209+10A>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign

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