ClinVar for Gene (Select 55325) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352814	NM_018359.5(UFSP2):c.1026A>G (p.Ala342=)	UFSP2	Single nucleotide variant (synonymous variant +1 more)	UFSP2-related disorder	GLikely benign
Select item 3340501	NM_018359.5(UFSP2):c.623del (p.Asn208fs)	CFAP96, UFSP2 (N208fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy 106	GLikely pathogenic
Select item 3330805	NM_018359.5(UFSP2):c.1205G>A (p.Gly402Glu)	UFSP2 (G402E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330804	NM_018359.5(UFSP2):c.880C>T (p.Arg294Cys)	UFSP2 (R294C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330803	NM_018359.5(UFSP2):c.415G>A (p.Gly139Arg)	UFSP2, CFAP96 (G139R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330802	NM_018359.5(UFSP2):c.1043G>A (p.Arg348Gln)	UFSP2 (R348Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3186034	NM_018359.5(UFSP2):c.46G>A (p.Gly16Ser)	CFAP96, UFSP2 (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186033	NM_018359.5(UFSP2):c.421C>G (p.His141Asp)	CFAP96, UFSP2 (H141D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186032	NM_018359.5(UFSP2):c.295A>C (p.Lys99Gln)	CFAP96, UFSP2 (K99Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186031	NM_018359.5(UFSP2):c.1226T>C (p.Leu409Pro)	UFSP2 (L409P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186030	NM_018359.5(UFSP2):c.1003G>A (p.Val335Ile)	UFSP2 (V335I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065681	NM_018359.5(UFSP2):c.1333G>A (p.Gly445Arg)	ANKRD37, UFSP2 (G445R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058506	NM_018359.5(UFSP2):c.688T>C (p.Leu230=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	UFSP2-related disorder	GLikely benign
Select item 3058405	NM_018359.5(UFSP2):c.997G>A (p.Ala333Thr)	UFSP2 (A333T)	Single nucleotide variant (missense variant +1 more)	UFSP2-related disorder	GLikely benign
Select item 3051222	NM_018359.5(UFSP2):c.1035C>T (p.Val345=)	UFSP2	Single nucleotide variant (synonymous variant +1 more)	UFSP2-related disorder	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684402	GRCh37/hg19 4q35.1(chr4:185978584-186403683)x3	ANKRD37, CCDC110 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2663881	NM_018359.5(UFSP2):c.110_111del (p.His37fs)	CFAP96, UFSP2 (H37fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy 106	GPathogenic
Select item 2655212	NM_018359.5(UFSP2):c.1036G>A (p.Gly346Arg)	UFSP2 (G346R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2600409	NM_018359.5(UFSP2):c.1150C>T (p.Arg384Trp)	UFSP2 (R384W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571625	NM_018359.5(UFSP2):c.1012G>A (p.Gly338Arg)	UFSP2 (G338R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 106	GUncertain significance
Select item 2527540	NM_018359.5(UFSP2):c.130A>G (p.Thr44Ala)	CFAP96, UFSP2 (T44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523961	NM_181726.4(ANKRD37):c.314G>C (p.Trp105Ser)	ANKRD37, UFSP2 (W105S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478944	NM_018359.5(UFSP2):c.382G>A (p.Ala128Thr)	CFAP96, UFSP2 (A128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476895	NM_018359.5(UFSP2):c.695A>T (p.Asp232Val)	CFAP96, UFSP2 (D232V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389732	NM_181726.4(ANKRD37):c.289G>A (p.Gly97Arg)	ANKRD37, UFSP2 (G97R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378083	NM_018359.5(UFSP2):c.746A>G (p.Tyr249Cys)	CFAP96, UFSP2 (Y249C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372856	NM_018359.5(UFSP2):c.827G>A (p.Gly276Asp)	CFAP96, UFSP2 (G276D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340974	NM_018359.5(UFSP2):c.311A>G (p.Lys104Arg)	CFAP96, UFSP2 (K104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329200	NM_018359.5(UFSP2):c.857G>C (p.Gly286Ala)	UFSP2 (G286A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2328497	NM_181726.4(ANKRD37):c.364A>G (p.Met122Val)	ANKRD37, UFSP2 (M122V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287563	NM_018359.5(UFSP2):c.20T>C (p.Met7Thr)	CFAP96, UFSP2 (M7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280991	NM_018359.5(UFSP2):c.914G>A (p.Arg305Gln)	UFSP2 (R305Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272848	NM_181726.4(ANKRD37):c.415G>A (p.Val139Met)	ANKRD37, UFSP2 (V139M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268090	NM_018359.5(UFSP2):c.1181G>A (p.Gly394Glu)	UFSP2 (G394E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230707	NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)	ANKRD37, UFSP2 (K447T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809662	NM_018359.5(UFSP2):c.1376A>C (p.Asn459Thr)	ANKRD37, UFSP2 (N459T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808446	GRCh37/hg19 4q35.1(chr4:186160654-186422579)x1	ANKRD37, CCDC110 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807774	GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	ANKRD37, CCDC110 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1685196	NM_018359.5(UFSP2):c.623dup (p.Asn208fs)	CFAP96, UFSP2 (N208fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1684236	NM_018359.5(UFSP2):c.-33C>T	CFAP96, UFSP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1684235	NM_018359.5(UFSP2):c.333+11T>C	CFAP96, UFSP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1527144	GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)	KLKB1, LRP2BP +15 more	Copy number gain	not specified	GUncertain significance
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1374349	NC_000004.11:g.(?_186064527)_(187630981_?)del	ANKRD37, CCDC110 +15 more	Deletion	not provided	GPathogenic
Select item 1098423	NM_018359.5(UFSP2):c.905G>C (p.Cys302Ser)	UFSP2 (C302S)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type	GPathogenic
Select item 1049919	NM_018359.5(UFSP2):c.1291G>C (p.Gly431Arg)	UFSP2 (G431R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 106 +9 more	GConflicting classifications of pathogenicity
Select item 916581	NM_018359.5(UFSP2):c.1283A>G (p.His428Arg)	UFSP2 (H428R)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type +1 more	GLikely pathogenic
Select item 814644	GRCh37/hg19 4q35.1(chr4:186210279-186578562)x3	PDLIM3, SNX25 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814641	GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3	ANKRD37, CCDC110 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 783432	NM_018359.5(UFSP2):c.228T>C (p.Thr76=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780512	NM_018359.5(UFSP2):c.932G>C (p.Cys311Ser)	UFSP2 (C311S)	Single nucleotide variant (missense variant +1 more)	Hip dysplasia, Beukes type +2 more	GBenign/Likely benign
Select item 779237	NM_018359.5(UFSP2):c.963G>A (p.Glu321=)	UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746197	NM_018359.5(UFSP2):c.186A>G (p.Ile62Met)	CFAP96, UFSP2 (I62M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 737877	NM_018359.5(UFSP2):c.704A>G (p.Asn235Ser)	CFAP96, UFSP2 (N235S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720924	NM_018359.5(UFSP2):c.279A>G (p.Glu93=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 719672	NM_018359.5(UFSP2):c.1296T>C (p.Ala432=)	UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709775	NM_018359.5(UFSP2):c.237T>C (p.Ser79=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688997	GRCh37/hg19 4q35.1(chr4:186031029-186490645)x3	ANKRD37, CCDC110 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688649	GRCh37/hg19 4q35.1(chr4:186260521-186402695)x3	ANKRD37, CCDC110 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688505	GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3	ACSL1, ANKRD37 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686744	GRCh37/hg19 4q35.1(chr4:186156239-186787416)x3	ANKRD37, CCDC110 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 563009	GRCh37/hg19 4q35.1(chr4:186137605-186403683)x3	ANKRD37, CCDC110 +4 more	Copy number gain	not provided	GLikely benign
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic

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