ClinVar for Gene (Select 79791) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093668	NM_024735.5(FBXO31):c.884G>A (p.Arg295His)	FBXO31 (R295H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093667	NM_024735.5(FBXO31):c.875C>T (p.Pro292Leu)	FBXO31 (P292L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093666	NM_024735.5(FBXO31):c.1348G>T (p.Val450Leu)	FBXO31 (V278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093665	NM_024735.5(FBXO31):c.1339G>A (p.Val447Met)	FBXO31 (V275M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093664	NM_024735.5(FBXO31):c.132C>G (p.Ile44Met)	FBXO31 (I44M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093663	NM_024735.5(FBXO31):c.1175G>A (p.Arg392His)	FBXO31 (R392H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063453	GRCh37/hg19 16q24.2(chr16:87213180-87474058)x1	C16orf95, FBXO31 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3053211	NM_024735.5(FBXO31):c.996+9C>T	FBXO31	Single nucleotide variant (intron variant)	FBXO31-related disorder	GLikely benign
Select item 3047823	NM_024735.5(FBXO31):c.543C>T (p.His181=)	FBXO31	Single nucleotide variant (synonymous variant)	FBXO31-related disorder	GLikely benign
Select item 3045547	NM_024735.5(FBXO31):c.495C>T (p.Asp165=)	FBXO31	Single nucleotide variant (5 prime UTR variant +1 more)	FBXO31-related disorder	GLikely benign
Select item 3026002	NM_024735.5(FBXO31):c.128G>T (p.Arg43Leu)	FBXO31 (R43L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2646955	NM_024735.5(FBXO31):c.483C>T (p.Asn161=)	FBXO31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2646954	NM_024735.5(FBXO31):c.789C>T (p.His263=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646953	NM_024735.5(FBXO31):c.1164G>A (p.Ala388=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646952	NM_024735.5(FBXO31):c.1182G>A (p.Arg394=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646951	NM_024735.5(FBXO31):c.1455C>T (p.Pro485=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646950	NM_024735.5(FBXO31):c.1536C>T (p.Val512=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633219	NM_024735.5(FBXO31):c.85G>A (p.Ala29Thr)	FBXO31 (A29T)	Single nucleotide variant (missense variant +1 more)	FBXO31-related disorder	GUncertain significance
Select item 2631976	NM_024735.5(FBXO31):c.1133G>A (p.Arg378His)	FBXO31 (R206H +1 more)	Single nucleotide variant (missense variant)	FBXO31-related disorder	GUncertain significance
Select item 2630576	NM_024735.5(FBXO31):c.496G>A (p.Gly166Ser)	FBXO31 (G166S)	Single nucleotide variant (5 prime UTR variant +1 more)	FBXO31-related disorder	GUncertain significance
Select item 2612022	NM_024735.5(FBXO31):c.238G>T (p.Ala80Ser)	FBXO31 (A80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592292	NM_024735.5(FBXO31):c.59A>C (p.Gln20Pro)	FBXO31 (Q20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557019	NM_024735.5(FBXO31):c.432C>G (p.His144Gln)	FBXO31 (H144Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2550103	NM_024735.5(FBXO31):c.133G>C (p.Glu45Gln)	FBXO31 (E45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528380	NM_024735.5(FBXO31):c.1048C>T (p.His350Tyr)	FBXO31 (H178Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524787	NM_024735.5(FBXO31):c.1252G>A (p.Gly418Arg)	FBXO31 (G246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508897	NM_024735.5(FBXO31):c.35C>A (p.Pro12Gln)	FBXO31 (P12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2494188	NM_024735.5(FBXO31):c.508A>G (p.Ile170Val)	FBXO31 (I170V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2404662	NM_024735.5(FBXO31):c.326G>A (p.Arg109Lys)	FBXO31 (R109K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378770	NM_024735.5(FBXO31):c.58C>A (p.Gln20Lys)	FBXO31 (Q20K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369571	NM_024735.5(FBXO31):c.1298C>A (p.Ala433Glu)	FBXO31 (A261E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354335	NM_024735.5(FBXO31):c.669G>T (p.Lys223Asn)	FBXO31 (K223N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344559	NM_024735.5(FBXO31):c.598A>G (p.Lys200Glu)	FBXO31 (K200E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304545	NM_024735.5(FBXO31):c.634G>A (p.Gly212Arg)	FBXO31 (G40R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275423	NM_024735.5(FBXO31):c.59A>G (p.Gln20Arg)	FBXO31 (Q20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270794	NM_024735.5(FBXO31):c.1504G>C (p.Glu502Gln)	FBXO31 (E330Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245858	NM_024735.5(FBXO31):c.29T>G (p.Val10Gly)	FBXO31 (V10G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208910	NM_024735.5(FBXO31):c.1153G>A (p.Gly385Arg)	FBXO31 (G385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204345	NM_024735.5(FBXO31):c.646G>A (p.Gly216Ser)	FBXO31 (G44S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1955327	NM_024735.5(FBXO31):c.412C>T (p.Leu138=)	FBXO31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1344806	NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)	FBXO31 (D162N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1336988	NM_024735.5(FBXO31):c.1566G>A (p.Pro522=)	FBXO31	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1336284	NM_024735.5(FBXO31):c.183G>T (p.Pro61=)	FBXO31	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 1239788	NM_024735.5(FBXO31):c.340+1761A>G	FBXO31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1034069	NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu)	FBXO31 (G15E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 45	GUncertain significance
Select item 1034068	NM_024735.5(FBXO31):c.638C>A (p.Pro213His)	FBXO31 (P41H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 45	GUncertain significance
Select item 1029920	NM_024735.5(FBXO31):c.996+4A>G	FBXO31	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 45	GUncertain significance
Select item 1029919	NM_024735.5(FBXO31):c.1348G>A (p.Val450Met)	FBXO31 (V450M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 45	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 869495	NC_000016.9:g.86243180_87703229del	FBXO31, ZCCHC14-DT +9 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 815863	GRCh37/hg19 16q24.2(chr16:87409427-87603006)x1	FBXO31, ZCCHC14-DT +2 more	Copy number loss	not provided	GUncertain significance
Select item 813309	GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)	C16orf74, C16orf95 +20 more	Copy number loss	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 799867	NM_024735.5(FBXO31):c.1545C>T (p.Thr515=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799504	NM_024735.5(FBXO31):c.468C>T (p.Tyr156=)	FBXO31	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 784345	NM_024735.5(FBXO31):c.84G>C (p.Thr28=)	FBXO31	Single nucleotide variant (synonymous variant +1 more)	FBXO31-related disorder +1 more	GBenign
Select item 755956	NM_024735.5(FBXO31):c.987C>G (p.Thr329=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741510	NM_024735.5(FBXO31):c.42C>A (p.Arg14=)	FBXO31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738514	NM_024735.5(FBXO31):c.717C>T (p.Ser239=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 736802	NM_024735.5(FBXO31):c.1338C>T (p.Phe446=)	FBXO31	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730498	NM_024735.5(FBXO31):c.322A>C (p.Arg108=)	FBXO31	Single nucleotide variant (synonymous variant +1 more)	FBXO31-related disorder +2 more	GLikely benign
Select item 727852	NM_024735.5(FBXO31):c.36G>A (p.Pro12=)	FBXO31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721910	NM_024735.5(FBXO31):c.432C>T (p.His144=)	FBXO31	Single nucleotide variant (5 prime UTR variant +1 more)	FBXO31-related disorder +1 more	GLikely benign
Select item 708552	NM_024735.5(FBXO31):c.1397+10C>T	FBXO31	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564366	GRCh37/hg19 16q24.2(chr16:87307128-87551687)x1	FBXO31, ZCCHC14-DT +3 more	Copy number loss	not provided	GUncertain significance
Select item 564365	GRCh37/hg19 16q24.2(chr16:87149360-87848903)x1	MAP1LC3B, ZCCHC14 +5 more	Copy number loss	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560033	Single allele	IL17C, ACSF3 +29 more	Deletion	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 501643	NM_024735.5(FBXO31):c.848G>A (p.Cys283Tyr)	FBXO31 (C283Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443397	GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1	C16orf74, C16orf95 +18 more	Copy number loss	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441961	GRCh37/hg19 16q24.2(chr16:87333237-87457042)x1	C16orf95, FBXO31 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 441081	GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	ACSF3, ANKRD11 +30 more	Copy number loss	not provided	Gnot provided
Select item 435184	NM_024735.5(FBXO31):c.117C>A (p.Pro39=)	FBXO31	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 435183	NM_024735.5(FBXO31):c.399C>T (p.Asp133=)	FBXO31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 435182	NM_024735.5(FBXO31):c.490-7_490-5del	FBXO31	Microsatellite (intron variant)	not specified +1 more	GUncertain significance
Select item 435181	NM_024735.5(FBXO31):c.996+10G>A	FBXO31	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 435180	NM_024735.5(FBXO31):c.999C>T (p.Gly333=)	FBXO31	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 435179	NM_024735.5(FBXO31):c.1065C>T (p.Pro355=)	FBXO31	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 376898	NM_024735.5(FBXO31):c.1181G>A (p.Arg394Gln)	FBXO31 (R394Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 267482	Single allele	ACSF3, ANKRD11 +30 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267475	Single allele	ZC3H18, ZCCHC14 +29 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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