ClinVar for Gene (Select 1962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358457	NM_001966.4(EHHADH):c.98AAG[1] (p.Glu34del)	EHHADH (E34del)	Microsatellite (5 prime UTR variant +1 more)	EHHADH-related disorder	GUncertain significance
Select item 3356968	NM_001966.4(EHHADH):c.508G>A (p.Asp170Asn)	EHHADH (D170N +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3356949	NM_001966.4(EHHADH):c.1743A>G (p.Gln581=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3356629	NM_001966.4(EHHADH):c.905T>G (p.Val302Gly)	EHHADH (V206G +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3354955	NM_001966.4(EHHADH):c.1756T>C (p.Leu586=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3354865	NM_001966.4(EHHADH):c.2120C>T (p.Pro707Leu)	EHHADH (P611L +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3350711	NM_001966.4(EHHADH):c.1411G>C (p.Val471Leu)	EHHADH (V375L +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3350202	NM_001966.4(EHHADH):c.843G>A (p.Trp281Ter)	EHHADH (W185* +1 more)	Single nucleotide variant (nonsense)	EHHADH-related disorder	GUncertain significance
Select item 3348856	NM_001966.4(EHHADH):c.444A>C (p.Ala148=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3348692	NM_001966.4(EHHADH):c.2047_2052delinsAT (p.Tyr683fs)	EHHADH (Y587fs +1 more)	Indel (frameshift variant)	EHHADH-related disorder	GUncertain significance
Select item 3346965	NM_001966.4(EHHADH):c.863C>T (p.Ser288Leu)	EHHADH (S192L +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3345935	NM_001966.4(EHHADH):c.463G>C (p.Gly155Arg)	EHHADH (G155R +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3274909	NM_001966.4(EHHADH):c.1768C>T (p.His590Tyr)	EHHADH (H590Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274908	NM_001966.4(EHHADH):c.2059C>A (p.Pro687Thr)	EHHADH (P591T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274907	NM_001966.4(EHHADH):c.332A>G (p.Tyr111Cys)	EHHADH (Y15C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274906	NM_001966.4(EHHADH):c.2026C>A (p.Leu676Ile)	EHHADH (L580I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274905	NM_001966.4(EHHADH):c.68C>G (p.Ala23Gly)	EHHADH (A23G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274904	NM_001966.4(EHHADH):c.411G>C (p.Gln137His)	EHHADH (Q137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274903	NM_001966.4(EHHADH):c.263A>G (p.Lys88Arg)	EHHADH (K88R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274902	NM_001966.4(EHHADH):c.1297T>A (p.Phe433Ile)	EHHADH (F337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274901	NM_001966.4(EHHADH):c.816C>A (p.Phe272Leu)	EHHADH (F176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3234585	NM_001966.4(EHHADH):c.1572T>G (p.Leu524=)	EHHADH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3087805	NM_001966.4(EHHADH):c.971T>G (p.Ile324Ser)	EHHADH (I228S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087804	NM_001966.4(EHHADH):c.931G>T (p.Gly311Cys)	EHHADH (G311C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087803	NM_001966.4(EHHADH):c.929G>A (p.Arg310Gln)	EHHADH (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087802	NM_001966.4(EHHADH):c.839A>G (p.Lys280Arg)	EHHADH (K280R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087801	NM_001966.4(EHHADH):c.73A>G (p.Ser25Gly)	EHHADH (S25G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087800	NM_001966.4(EHHADH):c.445C>G (p.Leu149Val)	EHHADH (L53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087799	NM_001966.4(EHHADH):c.398C>A (p.Ala133Glu)	EHHADH (A37E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 3061538	NM_001966.4(EHHADH):c.234T>C (p.His78=)	EHHADH	Single nucleotide variant (5 prime UTR variant +1 more)	EHHADH-related disorder	GLikely benign
Select item 3061498	NM_001966.4(EHHADH):c.6C>T (p.Ala2=)	EHHADH	Single nucleotide variant (5 prime UTR variant +1 more)	EHHADH-related disorder	GLikely benign
Select item 3060158	NM_001966.4(EHHADH):c.1051A>T (p.Met351Leu)	EHHADH (M255L +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GLikely benign
Select item 3057748	NM_001966.4(EHHADH):c.481G>C (p.Asp161His)	EHHADH (D161H +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GUncertain significance
Select item 3056868	NM_001966.4(EHHADH):c.118G>A (p.Val40Ile)	EHHADH (V40I)	Single nucleotide variant (5 prime UTR variant +1 more)	EHHADH-related disorder	GUncertain significance
Select item 3056157	NM_001966.4(EHHADH):c.1056A>G (p.Gln352=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
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 3053548	NM_001966.4(EHHADH):c.883C>T (p.Arg295Trp)	EHHADH (R199W +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GLikely benign
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 3052087	NM_001966.4(EHHADH):c.120A>G (p.Val40=)	EHHADH	Single nucleotide variant (5 prime UTR variant +1 more)	EHHADH-related disorder	GLikely benign
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 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 3046771	NM_001966.4(EHHADH):c.1662T>G (p.Gly554=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3046582	NM_001966.4(EHHADH):c.778T>C (p.Leu260=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3044741	NM_001966.4(EHHADH):c.464-20GTT[3]	EHHADH	Microsatellite (intron variant)	EHHADH-related disorder	GLikely benign
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 3043622	NM_001966.4(EHHADH):c.789G>C (p.Gly263=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3036943	NM_001966.4(EHHADH):c.984G>A (p.Ser328=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3036182	NM_001966.4(EHHADH):c.819C>T (p.Phe273=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
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 3032736	NM_001966.4(EHHADH):c.1920T>C (p.Ala640=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3031418	NM_001966.4(EHHADH):c.741G>A (p.Val247=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3029524	NM_001966.4(EHHADH):c.519A>G (p.Val173=)	EHHADH	Single nucleotide variant (synonymous variant)	EHHADH-related disorder	GLikely benign
Select item 3025923	NM_001966.4(EHHADH):c.856G>A (p.Gly286Arg)	EHHADH (G190R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685944	GRCh37/hg19 3q27.2(chr3:184927042-185128929)x3	EHHADH, MAP3K13	Copy number gain	not provided	GUncertain significance
Select item 2682854	NM_001966.4(EHHADH):c.1087C>T (p.Pro363Ser)	EHHADH (P267S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682853	NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)	EHHADH (R455Q +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 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2635009	NM_001966.4(EHHADH):c.907G>A (p.Val303Ile)	EHHADH (V207I +1 more)	Single nucleotide variant (missense variant)	EHHADH-related disorder	GLikely benign
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 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 2628688	NM_001966.4(EHHADH):c.126C>A (p.Asp42Glu)	EHHADH (D42E)	Single nucleotide variant (5 prime UTR variant +1 more)	EHHADH-related disorder	GUncertain significance
Select item 2627266	NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)	EHHADH (L605fs +1 more)	Duplication (frameshift 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 2601497	NM_001966.4(EHHADH):c.2081C>T (p.Pro694Leu)	EHHADH (P598L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2594882	NM_001966.4(EHHADH):c.703C>T (p.Arg235Cys)	EHHADH (R235C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519233	NM_001966.4(EHHADH):c.1004C>G (p.Thr335Ser)	EHHADH (T335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2466071	NM_001966.4(EHHADH):c.27C>G (p.Asn9Lys)	EHHADH (N9K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 2431818	NM_001966.4(EHHADH):c.42C>G (p.Ile14Met)	EHHADH (I14M)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi renotubular syndrome 3	GUncertain significance
Select item 2404465	NM_001966.4(EHHADH):c.932G>A (p.Gly311Asp)	EHHADH (G311D +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 2385527	NM_001966.4(EHHADH):c.1603A>G (p.Lys535Glu)	EHHADH (K439E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2371527	NM_001966.4(EHHADH):c.586C>T (p.Arg196Cys)	EHHADH (R100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364781	NM_001966.4(EHHADH):c.662G>A (p.Arg221Gln)	EHHADH (R221Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2362085	NM_001966.4(EHHADH):c.305G>T (p.Gly102Val)	EHHADH (G6V +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic

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