ClinVar for Gene (Select 441054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3138253	NM_152775.4(CCDC110):c.2480A>G (p.Asp827Gly)	CCDC110, CFAP96 (D827G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 2475024	NM_152775.4(CCDC110):c.2497C>T (p.His833Tyr)	CCDC110, CFAP96 (H796Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406127	NM_001114357.3(CFAP96):c.761C>G (p.Ser254Cys)	CFAP96 (S128C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398806	NM_001114357.3(CFAP96):c.167A>T (p.Asp56Val)	CFAP96 (D56V)	Single nucleotide variant (missense variant +1 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 2373634	NM_001114357.3(CFAP96):c.853G>A (p.Glu285Lys)	CFAP96 (E159K +1 more)	Single nucleotide variant (missense variant)	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 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 2241249	NM_001114357.3(CFAP96):c.916G>C (p.Val306Leu)	CCDC110, CFAP96 (V306L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233014	NM_001114357.3(CFAP96):c.513T>G (p.Asp171Glu)	CFAP96 (D171E)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 814645	GRCh37/hg19 4q35.1(chr4:186359991-186645190)x3	CCDC110, SORBS2 +2 more	Copy number gain	not provided	GLikely benign
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 809709	NM_001114357.3(CFAP96):c.775del (p.Val259fs)	CFAP96 (V133fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
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 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 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
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	ANKRD37, CCDC110 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 454473	NC_000004.11:g.(?_186064507)_(186436064_?)dup	ANKRD37, CCDC110 +7 more	Duplication	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 442364	GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1	CCDC110, CFAP96 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 441943	GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	ACSL1, ANKRD37 +16 more	Copy number gain	See cases	GLikely benign
Select item 441917	GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3	ANKRD37, CCDC110 +18 more	Copy number gain	See cases	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441597	GRCh37/hg19 4q35.1(chr4:185979169-186790163)x3	ANKRD37, CCDC110 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic

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