ELF2[gene] - ClinVar

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Items: 52

	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 145483	GRCh38/hg38 4q28.3-31.1(chr4:137507831-139300924)x1	ELF2, LINC00498 +37 more	Copy number loss	See cases	GUncertain significance
Select item 60200	GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1	ELF2, LINC00498 +48 more	Copy number loss	See cases	GUncertain significance
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 2347722	NM_001331036.3(ELF2):c.1729A>G (p.Ile577Val)	ELF2 (I432V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395396	NM_001331036.3(ELF2):c.1610C>T (p.Ser537Leu)	ELF2 (S392L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489496	NM_001331036.3(ELF2):c.1541C>T (p.Thr514Ile)	ELF2 (T454I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236535	NM_001331036.3(ELF2):c.1531T>A (p.Ser511Thr)	ELF2 (S366T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655098	NM_001331036.3(ELF2):c.1395A>G (p.Thr465=)	ELF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340370	NM_001331036.3(ELF2):c.1318A>C (p.Thr440Pro)	ELF2 (T440P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088235	NM_001331036.3(ELF2):c.1186G>C (p.Val396Leu)	ELF2 (V263L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216495	NM_001331036.3(ELF2):c.1178A>G (p.Gln393Arg)	ELF2 (Q292R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295660	NM_001331036.3(ELF2):c.1148C>T (p.Ala383Val)	ELF2 (A238V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088239	NM_001331036.3(ELF2):c.985A>G (p.Ser329Gly)	ELF2 (S240G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088238	NM_001331036.3(ELF2):c.527T>C (p.Val176Ala)	ELF2 (V176A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088237	NM_001331036.3(ELF2):c.415G>A (p.Asp139Asn)	ELF2 (D139N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088236	NM_001331036.3(ELF2):c.411G>C (p.Arg137Ser)	ELF2 (R21S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224507	NM_001331036.3(ELF2):c.406A>G (p.Met136Val)	ELF2 (M20V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377791	NM_001331036.3(ELF2):c.223G>A (p.Glu75Lys)	ELF2 (E75K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516654	NM_001331036.3(ELF2):c.184A>G (p.Met62Val)	ELF2 (M62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558439	NM_001331036.3(ELF2):c.84G>C (p.Lys28Asn)	ELF2 (K28N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 431175	NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr)	ELF2 (A4T)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	GLikely pathogenic
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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685991	GRCh37/hg19 4q28.3-31.1(chr4:139066630-140127741)x3	ELF2, NOCT +1 more	Copy number gain	not provided	GUncertain significance
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 814611	GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3	NDUFC1, NAA15 +4 more	Copy number gain	not provided	GLikely benign
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 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
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: 52