4801[HGNC] - 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	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 895644	NM_000182.5(HADHA):c.*586G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895645	NM_000182.5(HADHA):c.*561C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 335363	NM_000182.5(HADHA):c.*510A>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 335364	NM_000182.5(HADHA):c.*494G>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335365	NM_000182.5(HADHA):c.*489G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335366	NM_000182.5(HADHA):c.*458TG[3]	GAREM2, HADHA	Microsatellite (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 897058	NM_000182.5(HADHA):c.*437T>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335367	NM_000182.5(HADHA):c.*405C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 897539	NM_000182.5(HADHA):c.*403C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335368	NM_000182.5(HADHA):c.*389C>G	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335369	NM_000182.5(HADHA):c.*373GT[1]	GAREM2, HADHA	Microsatellite (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335370	NM_000182.5(HADHA):c.*355C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 898690	NM_000182.5(HADHA):c.*331T>C	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 335371	NM_000182.5(HADHA):c.*302G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 898691	NM_000182.5(HADHA):c.*239C>T	HADHA, GAREM2	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335372	NM_000182.5(HADHA):c.*202G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 895708	NM_000182.5(HADHA):c.*182C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895709	NM_000182.5(HADHA):c.*110G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895710	NM_000182.5(HADHA):c.*103A>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 895994	NM_000182.5(HADHA):c.*59C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895995	NM_000182.5(HADHA):c.*46G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2935497	NM_000182.5(HADHA):c.2291G>A (p.Ter764=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2939409	NM_000182.5(HADHA):c.2289G>A (p.Gln763=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1083256	NM_000182.5(HADHA):c.2286C>T (p.Tyr762=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2950623	NM_000182.5(HADHA):c.2283C>T (p.Phe761=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 808703	NM_000182.5(HADHA):c.2281T>C (p.Phe761Leu)	GAREM2, HADHA (F761L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 554666	NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)	GAREM2, HADHA (K760fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2942031	NM_000182.5(HADHA):c.2268C>T (p.Ser756=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1603738	NM_000182.5(HADHA):c.2265C>T (p.Asn755=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1086465	NM_000182.5(HADHA):c.2262T>C (p.Ala754=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1152432	NM_000182.5(HADHA):c.2259T>C (p.His753=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 2947969	NM_000182.5(HADHA):c.2241C>T (p.Cys747=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 555000	NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)	GAREM2, HADHA (C747*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2941188	NM_000182.5(HADHA):c.2235C>T (p.Thr745=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1994049	NM_000182.5(HADHA):c.2229_2233dup (p.Thr745fs)	GAREM2, HADHA (T745fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 2101164	NM_000182.5(HADHA):c.2231del (p.Phe744fs)	GAREM2, HADHA (F744fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 554064	NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)	GAREM2, HADHA	Duplication (inframe_insertion)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 495727	NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	GAREM2, HADHA (F744fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 553883	NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs)	GAREM2, HADHA (Q743fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 554919	NM_000182.5(HADHA):c.2222del (p.Gly741fs)	GAREM2, HADHA (G741fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 756742	NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 552556	NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)	GAREM2, HADHA (Y740*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1408766	NM_000182.5(HADHA):c.2215G>C (p.Ala739Pro)	GAREM2, HADHA (A739P)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 657134	NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)	GAREM2, HADHA (A739S)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2187702	NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)	HADHA, GAREM2 (E737Q)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 1629267	NM_000182.5(HADHA):c.2208T>C (p.Tyr736=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1427255	NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter)	GAREM2, HADHA (Y736*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 1106796	NM_000182.5(HADHA):c.2202G>A (p.Lys734=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1390752	NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter)	GAREM2, HADHA (K734*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2933646	NM_000182.5(HADHA):c.2199C>T (p.Leu733=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1493594	NM_000182.5(HADHA):c.2198T>C (p.Leu733Pro)	GAREM2, HADHA (L733P)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 2938538	NM_000182.5(HADHA):c.2196G>A (p.Arg732=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2675975	NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)	GAREM2, HADHA (R732fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1693802	NM_000182.5(HADHA):c.2195G>A (p.Arg732Gln)	GAREM2, HADHA (R732Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2950838	NM_000182.5(HADHA):c.2194C>A (p.Arg732=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2157872	NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)	GAREM2, HADHA (R732W)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 2046068	NM_000182.5(HADHA):c.2193C>T (p.Asp731=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1212995	NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)	GAREM2, HADHA (D731E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 895996	NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)	GAREM2, HADHA (D731V)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2675977	NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)	GAREM2, HADHA (K728fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1354049	NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)	GAREM2, HADHA (I729T)	Single nucleotide variant (missense variant)	HADHA-related disorder +2 more	GUncertain significance
Select item 2080602	NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)	GAREM2, HADHA (I729V)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2937548	NM_000182.5(HADHA):c.2178C>T (p.Ala726=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 512927	NM_000182.5(HADHA):c.2175C>T (p.Gly725=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2932378	NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 3104135	NM_000182.5(HADHA):c.2171A>G (p.Tyr724Cys)	GAREM2, HADHA (Y724C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179378	NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)	GAREM2, HADHA (Y724fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 1540643	NM_000182.5(HADHA):c.2169G>T (p.Leu723=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 715495	NM_000182.5(HADHA):c.2167C>T (p.Leu723=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102004	NM_000182.5(HADHA):c.2156G>A (p.Arg719His)	GAREM2, HADHA (R719H)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1534951	NM_000182.5(HADHA):c.2148G>C (p.Gly716=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2135710	NM_000182.5(HADHA):c.2147-2A>G	GAREM2, HADHA	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 1645392	NM_000182.5(HADHA):c.2147-5T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1538296	NM_000182.5(HADHA):c.2147-7_2147-6insGA	GAREM2, HADHA	Insertion (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2135451	NM_000182.5(HADHA):c.2147-8C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 335373	NM_000182.5(HADHA):c.2147-8C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2925920	NM_000182.5(HADHA):c.2147-10C>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1152601	NM_000182.5(HADHA):c.2147-10C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2934041	NM_000182.5(HADHA):c.2147-12_2147-11del	GAREM2, HADHA	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 514920	NM_000182.5(HADHA):c.2147-17C>T	HADHA, GAREM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512562	NM_000182.5(HADHA):c.2147-19G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 2925073	NM_000182.5(HADHA):c.2146+20A>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2934477	NM_000182.5(HADHA):c.2146+19G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2926985	NM_000182.5(HADHA):c.2146+19G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 1198680	NM_000182.5(HADHA):c.2146+18G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2934981	NM_000182.5(HADHA):c.2146+17G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 203740	NM_000182.5(HADHA):c.2146+16T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2928085	NM_000182.5(HADHA):c.2146+12A>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1084525	NM_000182.5(HADHA):c.2146+10G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947617	NM_000182.5(HADHA):c.2146+9C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign

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