EHHADH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 152989	GRCh38/hg38 3q27.2(chr3:185151277-185558406)x1	C3orf70, EHHADH +22 more	Copy number loss	See cases	GPathogenic
Select item 3036095	NM_001966.4(EHHADH):c.*10C>T	EHHADH	Single nucleotide variant (3 prime UTR variant)	EHHADH-related disorder	GLikely benign
Select item 500780	NM_001966.4(EHHADH):c.*8T>C	EHHADH	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 501844	NM_001966.4(EHHADH):c.2161A>G (p.Ser721Gly)	EHHADH (S721G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315933	NM_001966.4(EHHADH):c.2153C>T (p.Ser718Phe)	EHHADH (S622F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775930	NM_001966.4(EHHADH):c.2144T>C (p.Leu715Ser)	EHHADH (L715S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3087798	NM_001966.4(EHHADH):c.2142C>A (p.Ser714Arg)	EHHADH (S714R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501352	NM_001966.4(EHHADH):c.2117A>T (p.Asn706Ile)	EHHADH (N706I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2214839	NM_001966.4(EHHADH):c.2114G>A (p.Gly705Glu)	EHHADH (G609E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774610	NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe)	EHHADH (S607F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2627266	NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)	EHHADH (L605fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2319246	NM_001966.4(EHHADH):c.2098A>C (p.Lys700Gln)	EHHADH (K604Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 500329	NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2601497	NM_001966.4(EHHADH):c.2081C>T (p.Pro694Leu)	EHHADH (P598L +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder +1 more	GUncertain significance
Select item 596654	NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly)	EHHADH (E693G +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 591499	NM_001966.4(EHHADH):c.2075T>A (p.Leu692Gln)	EHHADH (L692Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500970	NM_001966.4(EHHADH):c.2069_2071del (p.Pro690del)	EHHADH (P690del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 712442	NM_001966.4(EHHADH):c.2066T>C (p.Ile689Thr)	EHHADH (I593T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1262673	NM_001966.4(EHHADH):c.2053C>A (p.Gln685Lys)	EHHADH (Q589K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712443	NM_001966.4(EHHADH):c.2050A>G (p.Arg684Gly)	EHHADH (R684G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 597756	NM_001966.4(EHHADH):c.2043A>C (p.Lys681Asn)	EHHADH (K681N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501017	NM_001966.4(EHHADH):c.2023G>A (p.Val675Ile)	EHHADH (V675I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441192	NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp)	EHHADH (G575W +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 3	GUncertain significance
Select item 3064451	NM_001966.4(EHHADH):c.1984G>A (p.Gly662Arg)	EHHADH (G566R +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 3	GUncertain significance
Select item 740788	NM_001966.4(EHHADH):c.1983C>T (p.Gly661=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2473196	NM_001966.4(EHHADH):c.1963G>A (p.Gly655Arg)	EHHADH (G655R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593344	NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met)	EHHADH (I646M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3087797	NM_001966.4(EHHADH):c.1934A>G (p.His645Arg)	EHHADH (H549R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032736	NM_001966.4(EHHADH):c.1920T>C (p.Ala640=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 712444	NM_001966.4(EHHADH):c.1908A>G (p.Gly636=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3087796	NM_001966.4(EHHADH):c.1897C>G (p.Arg633Gly)	EHHADH (R537G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501719	NM_001966.4(EHHADH):c.1897C>T (p.Arg633Cys)	EHHADH (R633C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470204	NM_001966.4(EHHADH):c.1886A>G (p.Asn629Ser)	EHHADH (N533S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087795	NM_001966.4(EHHADH):c.1879C>T (p.Leu627Phe)	EHHADH (L531F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501143	NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)	EHHADH (R622C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 595014	NM_001966.4(EHHADH):c.1861G>T (p.Glu621Ter)	EHHADH (E621* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3087794	NM_001966.4(EHHADH):c.1850A>T (p.Asp617Val)	EHHADH (D521V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325375	NM_001966.4(EHHADH):c.1825A>G (p.Ile609Val)	EHHADH (I609V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548610	NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)	EHHADH (T510fs +1 more)	Insertion (frameshift variant)	Fanconi renotubular syndrome 1	GUncertain significance
Select item 501910	NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg)	EHHADH (K605R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 501138	NM_001966.4(EHHADH):c.1805G>A (p.Arg602Gln)	EHHADH (R602Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 502361	NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp)	EHHADH (R602W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597590	NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg)	EHHADH (K598R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682852	NM_001966.4(EHHADH):c.1786C>G (p.Leu596Val)	EHHADH (L500V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053120	NM_001966.4(EHHADH):c.1773A>G (p.Lys591=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 597897	NM_001966.4(EHHADH):c.1773del (p.Lys591fs)	EHHADH (K591fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3055592	NM_001966.4(EHHADH):c.1732G>T (p.Gly578Cys)	EHHADH (G482C +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 594226	NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe)	EHHADH (L565F +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 595892	NM_001966.4(EHHADH):c.1674C>T (p.Tyr558=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500411	NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly)	EHHADH (R556G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3046771	NM_001966.4(EHHADH):c.1662T>G (p.Gly554=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3047148	NM_001966.4(EHHADH):c.1654A>T (p.Lys552Ter)	EHHADH (K456* +1 more)	Single nucleotide variant (nonsense)	EHHADH-related disorder	GUncertain significance
Select item 2682853	NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)	EHHADH (R455Q +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3044426	NM_001966.4(EHHADH):c.1651C>T (p.Arg551Ter)	EHHADH (R455* +1 more)	Single nucleotide variant (nonsense)	EHHADH-related disorder	GLikely benign
Select item 2629519	NM_001966.4(EHHADH):c.1648G>A (p.Ala550Thr)	EHHADH (A454T +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 2363617	NM_001966.4(EHHADH):c.1615C>T (p.Leu539Phe)	EHHADH (L443F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605056	NM_001966.4(EHHADH):c.1612G>A (p.Gly538Ser)	EHHADH (G538S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501681	NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2385527	NM_001966.4(EHHADH):c.1603A>G (p.Lys535Glu)	EHHADH (K439E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595356	NM_001966.4(EHHADH):c.1578G>A (p.Gly526=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3234585	NM_001966.4(EHHADH):c.1572T>G (p.Leu524=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500385	NM_001966.4(EHHADH):c.1563G>A (p.Val521=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 594131	NM_001966.4(EHHADH):c.1547T>A (p.Met516Lys)	EHHADH (M516K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500640	NM_001966.4(EHHADH):c.1543A>T (p.Lys515Ter)	EHHADH (K515* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 598090	NM_001966.4(EHHADH):c.1505C>G (p.Pro502Arg)	EHHADH (P502R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595412	NM_001966.4(EHHADH):c.1478A>G (p.Tyr493Cys)	EHHADH (Y493C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786507	NM_001966.4(EHHADH):c.1448G>A (p.Arg483Gln)	EHHADH (R483Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 285258	NM_001966.4(EHHADH):c.1447C>T (p.Arg483Ter)	EHHADH (R483* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 593763	NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile)	EHHADH (V472I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 501508	NM_001966.4(EHHADH):c.1414G>C (p.Val472Leu)	EHHADH (V472L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758186	NM_001966.4(EHHADH):c.1413C>T (p.Val471=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478493	NM_001966.4(EHHADH):c.1380G>T (p.Met460Ile)	EHHADH (M460I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 502066	NM_001966.4(EHHADH):c.1321A>C (p.Lys441Gln)	EHHADH (K441Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500576	NM_001966.4(EHHADH):c.1305G>A (p.Ser435=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2632327	NM_001966.4(EHHADH):c.1294C>T (p.His432Tyr)	EHHADH (H336Y +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 2331213	NM_001966.4(EHHADH):c.1294C>A (p.His432Asn)	EHHADH (H432N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402566	NM_001966.4(EHHADH):c.1270C>T (p.Arg424Cys)	EHHADH (R328C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 594339	NM_001966.4(EHHADH):c.1210G>A (p.Ala404Thr)	EHHADH (A404T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047771	NM_001966.4(EHHADH):c.1200C>T (p.Cys400=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 595004	NM_001966.4(EHHADH):c.1194T>C (p.Ala398=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder +1 more	GLikely benign
Select item 977889	NM_001966.4(EHHADH):c.1189dup (p.Ser397fs)	EHHADH (S301fs +1 more)	Duplication (frameshift variant)	Fanconi renotubular syndrome 3	GLikely benign
Select item 2225332	NM_001966.4(EHHADH):c.1136T>C (p.Ile379Thr)	EHHADH (I379T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595249	NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)	EHHADH (L365V +1 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 3 +2 more	GConflicting classifications of pathogenicity

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