ELMOD2[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 1280946	NM_153702.4(ELMOD2):c.-9-294A>G	ELMOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2282554	NM_153702.4(ELMOD2):c.80G>A (p.Gly27Glu)	ELMOD2 (G27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504726	NM_153702.4(ELMOD2):c.116T>G (p.Val39Gly)	ELMOD2 (V39G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088351	NM_153702.4(ELMOD2):c.135C>G (p.His45Gln)	ELMOD2 (H45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264141	NM_153702.4(ELMOD2):c.142+43G>T	ELMOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3088352	NM_153702.4(ELMOD2):c.243G>T (p.Lys81Asn)	ELMOD2 (K81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235399	NM_153702.4(ELMOD2):c.270-81T>G	ELMOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2211955	NM_153702.4(ELMOD2):c.344T>A (p.Val115Glu)	ELMOD2 (V115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336126	NM_153702.4(ELMOD2):c.356C>A (p.Pro119Gln)	ELMOD2 (P119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033975	NM_153702.4(ELMOD2):c.378G>A (p.Gln126=)	ELMOD2	Single nucleotide variant (synonymous variant)	ELMOD2-related disorder	GLikely benign
Select item 504727	NM_153702.4(ELMOD2):c.399+4A>C	ELMOD2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1263664	NM_153702.4(ELMOD2):c.400-154A>G	ELMOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235681	NM_153702.4(ELMOD2):c.400-152A>T	ELMOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226630	NM_153702.4(ELMOD2):c.428A>C (p.Lys143Thr)	ELMOD2 (K143T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2320130	NM_153702.4(ELMOD2):c.481G>A (p.Asp161Asn)	ELMOD2 (D161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265510	NM_153702.4(ELMOD2):c.533+167T>C	ELMOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2553423	NM_153702.4(ELMOD2):c.548A>T (p.Asn183Ile)	ELMOD2 (N183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288975	NM_153702.4(ELMOD2):c.629A>G (p.Asn210Ser)	ELMOD2 (N210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286822	NM_153702.4(ELMOD2):c.649A>G (p.Ser217Gly)	ELMOD2 (S217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088353	NM_153702.4(ELMOD2):c.662G>C (p.Ser221Thr)	ELMOD2 (S221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044639	NM_153702.4(ELMOD2):c.662G>A (p.Ser221Asn)	ELMOD2 (S221N)	Single nucleotide variant (missense variant)	ELMOD2-related disorder	GLikely benign
Select item 2294000	NM_153702.4(ELMOD2):c.665A>G (p.Glu222Gly)	ELMOD2 (E222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207854	NM_153702.4(ELMOD2):c.674A>G (p.Lys225Arg)	ELMOD2 (K225R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2272194	NM_153702.4(ELMOD2):c.680A>C (p.His227Pro)	ELMOD2 (H227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635170	NM_153702.4(ELMOD2):c.701G>A (p.Gly234Asp)	ELMOD2 (G234D)	Single nucleotide variant (missense variant)	ELMOD2-related disorder	GUncertain significance
Select item 2213746	NM_153702.4(ELMOD2):c.717A>T (p.Glu239Asp)	ELMOD2 (E239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247783	NM_153702.4(ELMOD2):c.794T>C (p.Met265Thr)	ELMOD2 (M265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088354	NM_153702.4(ELMOD2):c.874A>G (p.Lys292Glu)	ELMOD2 (K292E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088355	NM_153702.4(ELMOD2):c.877G>C (p.Val293Leu)	ELMOD2 (V293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226629	NM_153702.4(ELMOD2):c.*9C>T	ELMOD2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062765	GRCh37/hg19 4q31.1(chr4:140930352-141499318)x3	CLGN, ELMOD2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 814609	GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1	MGAT4D, SETD7 +14 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 686467	GRCh37/hg19 4q31.1-31.21(chr4:141176846-142078534)x3	CLGN, ELMOD2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562970	GRCh37/hg19 4q31.1(chr4:140924159-141492943)x3	UCP1, MAML3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 63