ClinVar for Gene (Select 57593) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274353	NM_001395167.1(EBF4):c.1622T>C (p.Phe541Ser)	EBF4 (F464S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274352	NM_001395167.1(EBF4):c.1300A>G (p.Ser434Gly)	EBF4 (S434G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3086851	NM_001395167.1(EBF4):c.892C>G (p.Leu298Val)	EBF4 (L398V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086850	NM_001395167.1(EBF4):c.341G>T (p.Arg114Leu)	EBF4 (R214L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086848	NM_001395167.1(EBF4):c.301G>A (p.Gly101Arg)	EBF4 (G201R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086847	NM_001395167.1(EBF4):c.214G>A (p.Val72Met)	EBF4 (V72M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086846	NM_001395167.1(EBF4):c.1780C>T (p.Arg594Trp)	EBF4 (R694W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086845	NM_001395167.1(EBF4):c.28C>G (p.Arg10Gly)	EBF4 (R110G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086844	NM_001395167.1(EBF4):c.1559C>T (p.Pro520Leu)	EBF4 (P443L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086843	NM_001395167.1(EBF4):c.1450G>A (p.Gly484Ser)	EBF4 (G484S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086842	NM_001395167.1(EBF4):c.1419C>A (p.Ser473Arg)	EBF4 (S473R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086841	NM_001395167.1(EBF4):c.1237G>A (p.Gly413Arg)	EBF4 (G336R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086840	NM_001395167.1(EBF4):c.22C>G (p.Leu8Val)	EBF4 (L8V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086839	NM_001395167.1(EBF4):c.1111G>A (p.Val371Met)	EBF4 (V294M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2619236	NM_001395167.1(EBF4):c.1472T>C (p.Val491Ala)	EBF4 (V591A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614349	NM_001395167.1(EBF4):c.1016C>G (p.Thr339Arg)	EBF4 (T439R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606230	NM_001395167.1(EBF4):c.766C>A (p.Pro256Thr)	EBF4 (P179T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603168	NM_001395167.1(EBF4):c.1379C>G (p.Ser460Cys)	EBF4, LOC130065311 (S383C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590587	NM_001395167.1(EBF4):c.553G>A (p.Asp185Asn)	EBF4 (D185N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2538695	NM_001395167.1(EBF4):c.1424A>G (p.Tyr475Cys)	EBF4 (Y575C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523338	NM_001395167.1(EBF4):c.1324G>C (p.Gly442Arg)	EBF4, LOC130065311 (G542R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487286	NM_001395167.1(EBF4):c.79T>A (p.Ser27Thr)	EBF4 (S27T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470822	NM_001395167.1(EBF4):c.1097G>C (p.Arg366Thr)	EBF4 (R466T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2408204	NM_001395167.1(EBF4):c.875T>A (p.Val292Glu)	EBF4 (V215E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408202	NM_001395167.1(EBF4):c.1237G>T (p.Gly413Trp)	EBF4 (G336W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390661	NM_001395167.1(EBF4):c.981G>C (p.Gln327His)	EBF4 (Q427H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388685	NM_001395167.1(EBF4):c.335G>A (p.Arg112His)	EBF4 (R108H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388430	NM_001395167.1(EBF4):c.305C>T (p.Ala102Val)	EBF4 (A102V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375824	NM_001395167.1(EBF4):c.1312G>T (p.Ala438Ser)	EBF4 (A538S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367987	NM_001395167.1(EBF4):c.356A>G (p.Asn119Ser)	EBF4 (N115S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349935	NM_001395167.1(EBF4):c.142G>A (p.Val48Met)	EBF4 (V148M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341962	NM_001395167.1(EBF4):c.550A>G (p.Ile184Val)	EBF4 (I284V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340213	NM_001395167.1(EBF4):c.1510A>G (p.Asn504Asp)	EBF4 (N427D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339598	NM_001395167.1(EBF4):c.1508T>C (p.Leu503Pro)	EBF4 (L503P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326091	NM_001395167.1(EBF4):c.1223C>T (p.Thr408Ile)	EBF4 (T331I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316737	NM_001395167.1(EBF4):c.857A>G (p.Gln286Arg)	EBF4 (Q286R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292436	NM_001395167.1(EBF4):c.440A>G (p.Lys147Arg)	EBF4 (K143R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286577	NM_001395167.1(EBF4):c.929C>T (p.Pro310Leu)	EBF4 (P310L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278086	NM_001395167.1(EBF4):c.223A>C (p.Met75Leu)	EBF4 (M175L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277034	NM_001395167.1(EBF4):c.1340G>A (p.Gly447Glu)	EBF4, LOC130065311 (G443E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275161	NM_001395167.1(EBF4):c.530C>T (p.Thr177Met)	EBF4 (T277M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271263	NM_001395167.1(EBF4):c.1559C>G (p.Pro520Arg)	EBF4 (P443R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263130	NM_001395167.1(EBF4):c.1675G>A (p.Val559Met)	EBF4 (V482M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257002	NM_001395167.1(EBF4):c.232C>T (p.Arg78Trp)	EBF4 (R74W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244202	NM_001395167.1(EBF4):c.397G>A (p.Asp133Asn)	EBF4 (D133N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225667	NM_001395167.1(EBF4):c.826G>A (p.Val276Ile)	EBF4 (V199I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216297	NM_001395167.1(EBF4):c.1589C>T (p.Pro530Leu)	EBF4 (P526L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216021	NM_001395167.1(EBF4):c.847G>T (p.Asp283Tyr)	EBF4 (D206Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212133	NM_001395167.1(EBF4):c.1658G>A (p.Arg553Lys)	EBF4 (R553K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207863	NM_001395167.1(EBF4):c.233G>A (p.Arg78Gln)	EBF4 (R178Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206893	NM_001395167.1(EBF4):c.1775C>T (p.Pro592Leu)	EBF4 (P592L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204041	NM_001395167.1(EBF4):c.197C>G (p.Ser66Cys)	EBF4 (S66C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 783857	NM_001395167.1(EBF4):c.492G>T (p.Arg164=)	EBF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783856	NM_001395167.1(EBF4):c.273C>T (p.Ile91=)	EBF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 685366	GRCh37/hg19 20p13(chr20:2738670-3054217)x3	C20orf141, CPXM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 86