ELF3[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3088240	NM_004433.5(ELF3):c.13T>C (p.Cys5Arg)	ELF3 (C5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548975	NM_004433.5(ELF3):c.161C>A (p.Thr54Lys)	ELF3 (T54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222215	NM_004433.5(ELF3):c.176G>T (p.Trp59Leu)	ELF3 (W59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775154	NM_004433.5(ELF3):c.312T>C (p.Asn104=)	ELF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2639785	NM_004433.5(ELF3):c.516C>T (p.Asp172=)	ELF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386681	NM_004433.5(ELF3):c.517G>A (p.Gly173Ser)	ELF3 (G173S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472985	NM_004433.5(ELF3):c.578G>A (p.Ser193Asn)	ELF3 (S193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593988	NM_004433.5(ELF3):c.649G>A (p.Val217Met)	ELF3 (V217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276473	NM_004433.5(ELF3):c.700G>A (p.Asp234Asn)	ELF3 (D234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519797	NM_004433.5(ELF3):c.868G>A (p.Glu290Lys)	ELF3, LOC126805977 (E290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354522	NM_004433.5(ELF3):c.904G>A (p.Val302Ile)	ELF3, LOC126805977 (V302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544538	NM_004433.5(ELF3):c.1108C>T (p.Arg370Trp)	ELF3 (R370W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 28