MFAP3L[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	AADAT, ACSL1 +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	LOC129993473, LOC129993474 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 2252754	NM_021647.8(MFAP3L):c.1043T>C (p.Leu348Pro)	MFAP3L (L245P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125663	NM_021647.8(MFAP3L):c.989C>T (p.Ala330Val)	MFAP3L (A227V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600879	NM_021647.8(MFAP3L):c.949A>G (p.Ile317Val)	MFAP3L (I214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407091	NM_021647.8(MFAP3L):c.913G>T (p.Ala305Ser)	MFAP3L (A305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371366	NM_021647.8(MFAP3L):c.841G>A (p.Ala281Thr)	MFAP3L (A178T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125662	NM_021647.8(MFAP3L):c.838G>A (p.Ala280Thr)	MFAP3L (A177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125661	NM_021647.8(MFAP3L):c.724C>A (p.Pro242Thr)	MFAP3L (P242T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236181	NM_021647.8(MFAP3L):c.721G>A (p.Val241Met)	MFAP3L (V138M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125660	NM_021647.8(MFAP3L):c.695G>A (p.Arg232His)	MFAP3L (R129H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125659	NM_021647.8(MFAP3L):c.675C>A (p.Phe225Leu)	MFAP3L (F122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456278	NM_021647.8(MFAP3L):c.640G>A (p.Ala214Thr)	MFAP3L (A111T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548785	NM_021647.8(MFAP3L):c.617A>G (p.Lys206Arg)	MFAP3L (K103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125658	NM_021647.8(MFAP3L):c.550A>G (p.Lys184Glu)	MFAP3L (K81E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539395	NM_021647.8(MFAP3L):c.518G>A (p.Cys173Tyr)	MFAP3L (C70Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359289	NM_021647.8(MFAP3L):c.322G>A (p.Gly108Ser)	MFAP3L (G108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222977	NM_021647.8(MFAP3L):c.316G>A (p.Asp106Asn)	MFAP3L (D3N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456575	NM_021647.8(MFAP3L):c.172G>A (p.Val58Ile)	MFAP3L (V58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125656	NM_021647.8(MFAP3L):c.155G>A (p.Arg52Lys)	MFAP3L (R52K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125655	NM_021647.8(MFAP3L):c.121G>A (p.Val41Met)	MFAP3L (V41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355920	NM_021647.8(MFAP3L):c.100A>G (p.Ser34Gly)	MFAP3L (S34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304041	NM_021647.8(MFAP3L):c.71C>T (p.Thr24Ile)	MFAP3L (T24I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +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 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
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 2498336	GRCh37/hg19 4q32.3-34.1(chr4:169709270-171996798)x1	AADAT, CBR4 +7 more	Copy number loss	See cases	GUncertain significance
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	AADAT, ACSL1 +93 more	Copy number loss	See cases	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 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	CLDN22, GLRA3 +35 more	Copy number loss	See cases	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
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 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AGA, ANKRD37 +65 more	Copy number gain	not provided	GPathogenic
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	AADAT, ADAM29 +36 more	Copy number gain	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 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	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	FNIP2, MSMO1 +60 more	Copy number gain	not provided	GPathogenic
Select item 560098	Single allele	CBR4, CLCN3 +23 more	Deletion	not provided	GLikely pathogenic
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 442972	GRCh37/hg19 4q33(chr4:170610585-171892657)x1	AADAT, CLCN3 +3 more	Copy number loss	See cases	GLikely benign
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	PALLD, VEGFC +46 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	TLL1, HAND2 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 79