ELF5[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	LOC130005558, LOC130005559 +100 more	Copy number gain	See cases	GUncertain significance
Select item 2328150	NM_001422.4(ELF5):c.758A>G (p.Asp253Gly)	ELF5 (D253G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238551	NM_001422.4(ELF5):c.718G>A (p.Val240Met)	ELF5 (V240M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555486	NM_001422.4(ELF5):c.593C>T (p.Ser198Leu)	ELF5 (S208L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305150	NM_001422.4(ELF5):c.574A>C (p.Ile192Leu)	ELF5 (I202L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088249	NM_001422.4(ELF5):c.559G>A (p.Asp187Asn)	ELF5 (D119N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532697	NM_001422.4(ELF5):c.413A>T (p.Asp138Val)	ELF5 (D148V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520646	NM_001422.4(ELF5):c.347G>A (p.Arg116His)	ELF5 (R126H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463094	NM_001422.4(ELF5):c.347G>T (p.Arg116Leu)	ELF5 (R126L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317590	NM_001422.4(ELF5):c.346C>T (p.Arg116Cys)	ELF5 (R116C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622805	NM_001422.4(ELF5):c.298G>T (p.Ala100Ser)	ELF5 (A100S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397570	NM_001422.4(ELF5):c.268T>G (p.Cys90Gly)	ELF5 (C100G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238550	NM_001422.4(ELF5):c.225T>A (p.Asn75Lys)	ELF5 (N75K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536107	NM_001422.4(ELF5):c.215T>G (p.Leu72Trp)	ELF5 (L72W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088248	NM_001422.4(ELF5):c.180G>T (p.Trp60Cys)	ELF5 (W70C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327889	NM_001422.4(ELF5):c.106T>G (p.Phe36Val)	ELF5 (F36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532909	NM_001422.4(ELF5):c.52G>A (p.Asp18Asn)	ELF5 (D18N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247906	NM_001422.4(ELF5):c.34C>T (p.Pro12Ser)	ELF5 (P22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485220	NM_001422.4(ELF5):c.14T>A (p.Val5Glu)	ELF5 (V5E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684639	GRCh37/hg19 11p13(chr11:34251536-34618202)x3	ABTB2, CAT +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815425	GRCh37/hg19 11p13(chr11:33221821-34569417)x1	ELF5, FBXO3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	APIP, BDNF +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 39