24949[HGNC] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
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	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 2265196	NM_001366057.1(OTUD4):c.3315G>A (p.Met1105Ile)	OTUD4 (M1040I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207382	NM_001366057.1(OTUD4):c.3241C>T (p.Arg1081Trp)	OTUD4 (R1016W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207381	NM_001366057.1(OTUD4):c.3206G>A (p.Ser1069Asn)	OTUD4 (S1069N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303689	NM_001366057.1(OTUD4):c.3128A>G (p.Tyr1043Cys)	OTUD4 (Y978C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207380	NM_001366057.1(OTUD4):c.3092C>G (p.Ser1031Cys)	OTUD4 (S966C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331623	NM_001366057.1(OTUD4):c.3058A>G (p.Lys1020Glu)	OTUD4 (K1020E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655109	NM_001366057.1(OTUD4):c.3030C>T (p.Asn1010=)	OTUD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211809	NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=)	OTUD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3207379	NM_001366057.1(OTUD4):c.2999C>A (p.Thr1000Asn)	OTUD4 (T1000N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316584	NM_001366057.1(OTUD4):c.2999C>T (p.Thr1000Ile)	OTUD4 (T935I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344745	NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg)	OTUD4 (P933R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522195	NM_001366057.1(OTUD4):c.2876G>A (p.Gly959Glu)	OTUD4 (G894E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375363	NM_001366057.1(OTUD4):c.2815C>A (p.Gln939Lys)	OTUD4 (Q874K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392269	NM_001366057.1(OTUD4):c.2806C>T (p.Arg936Trp)	OTUD4 (R871W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303695	NM_001366057.1(OTUD4):c.2795C>G (p.Pro932Arg)	OTUD4 (P867R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386072	NM_001366057.1(OTUD4):c.2738C>T (p.Pro913Leu)	OTUD4 (P913L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207378	NM_001366057.1(OTUD4):c.2707T>G (p.Cys903Gly)	OTUD4 (C903G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655110	NM_001366057.1(OTUD4):c.2649C>G (p.Pro883=)	OTUD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329883	NM_001366057.1(OTUD4):c.2534A>G (p.Asn845Ser)	OTUD4 (N845S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327986	NM_001366057.1(OTUD4):c.2517G>T (p.Gln839His)	OTUD4 (Q774H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303688	NM_001366057.1(OTUD4):c.2498G>A (p.Gly833Asp)	OTUD4 (G768D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303691	NM_001366057.1(OTUD4):c.2480A>T (p.Tyr827Phe)	OTUD4 (Y762F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207377	NM_001366057.1(OTUD4):c.2451G>C (p.Glu817Asp)	OTUD4 (E817D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207376	NM_001366057.1(OTUD4):c.2447C>T (p.Ser816Phe)	OTUD4 (S751F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460972	NM_001366057.1(OTUD4):c.2443G>C (p.Glu815Gln)	OTUD4 (E750Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598768	NM_001366057.1(OTUD4):c.2378C>G (p.Pro793Arg)	OTUD4 (P793R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207375	NM_001366057.1(OTUD4):c.2360C>T (p.Pro787Leu)	OTUD4 (P787L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479923	NM_001366057.1(OTUD4):c.2324G>A (p.Ser775Asn)	OTUD4 (S775N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207374	NM_001366057.1(OTUD4):c.2164T>C (p.Tyr722His)	OTUD4 (Y722H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212763	NM_001366057.1(OTUD4):c.2140A>G (p.Met714Val)	OTUD4 (M649V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303692	NM_001366057.1(OTUD4):c.1944C>G (p.Asn648Lys)	OTUD4 (N583K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273173	NM_001366057.1(OTUD4):c.1909C>A (p.Pro637Thr)	OTUD4 (P572T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294679	NM_001366057.1(OTUD4):c.1898C>T (p.Ala633Val)	OTUD4 (A633V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220255	NM_001366057.1(OTUD4):c.1757C>T (p.Ala586Val)	OTUD4 (A521V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038194	NM_001366057.1(OTUD4):c.1699G>A (p.Val567Met)	OTUD4 (V502M +1 more)	Single nucleotide variant (missense variant)	OTUD4-related disorder	GLikely benign
Select item 2550503	NM_001366057.1(OTUD4):c.1646A>C (p.Lys549Thr)	OTUD4 (K549T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207373	NM_001366057.1(OTUD4):c.1631T>C (p.Val544Ala)	OTUD4 (V479A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207371	NM_001366057.1(OTUD4):c.1594A>G (p.Thr532Ala)	OTUD4 (T467A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404430	NM_001366057.1(OTUD4):c.1556A>G (p.His519Arg)	OTUD4 (H454R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207370	NM_001366057.1(OTUD4):c.1519A>C (p.Met507Leu)	OTUD4 (M507L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353612	NM_001366057.1(OTUD4):c.1514G>A (p.Arg505Gln)	OTUD4 (R440Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340457	NM_001366057.1(OTUD4):c.1500A>C (p.Arg500Ser)	OTUD4 (R435S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303693	NM_001366057.1(OTUD4):c.1492G>A (p.Gly498Ser)	OTUD4 (G433S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377035	NM_001366057.1(OTUD4):c.1490T>C (p.Val497Ala)	OTUD4 (V497A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207369	NM_001366057.1(OTUD4):c.1447T>G (p.Ser483Ala)	OTUD4 (S483A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064068	NM_001366057.1(OTUD4):c.1361A>G (p.Glu454Gly)	OTUD4 (E389G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	Gnot provided
Select item 3303690	NM_001366057.1(OTUD4):c.1254C>G (p.Ile418Met)	OTUD4 (I353M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228552	NM_001366057.1(OTUD4):c.1240A>C (p.Thr414Pro)	OTUD4 (T349P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 50915	NM_001366057.1(OTUD4):c.1193G>T (p.Gly398Val)	OTUD4 (G333V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2378924	NM_001366057.1(OTUD4):c.1178C>G (p.Ser393Cys)	OTUD4 (S328C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340779	NM_001366057.1(OTUD4):c.1151C>A (p.Pro384His)	OTUD4 (P384H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402537	NM_001366057.1(OTUD4):c.1103G>T (p.Ser368Ile)	OTUD4 (S303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207386	NM_001366057.1(OTUD4):c.985C>T (p.Leu329Phe)	OTUD4 (L264F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207385	NM_001366057.1(OTUD4):c.881T>G (p.Leu294Trp)	OTUD4 (L229W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404000	NM_001366057.1(OTUD4):c.853G>A (p.Glu285Lys)	OTUD4 (E220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292247	NM_001366057.1(OTUD4):c.832A>G (p.Ile278Val)	OTUD4 (I278V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 453299	NM_001366057.1(OTUD4):c.821G>A (p.Arg274His)	OTUD4 (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046046	NM_001366057.1(OTUD4):c.809-7_809-6del	OTUD4	Deletion (intron variant)	OTUD4-related disorder	GLikely benign
Select item 3207384	NM_001366057.1(OTUD4):c.767A>G (p.Tyr256Cys)	OTUD4 (Y256C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552382	NM_001366057.1(OTUD4):c.710A>G (p.Asn237Ser)	OTUD4 (N172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055796	NM_001366057.1(OTUD4):c.646G>A (p.Ala216Thr)	OTUD4 (A151T +1 more)	Single nucleotide variant (missense variant)	OTUD4-related disorder	GBenign
Select item 453300	NM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly)	OTUD4 (A129G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303694	NM_001366057.1(OTUD4):c.569C>T (p.Thr190Met)	OTUD4 (T125M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207383	NM_001366057.1(OTUD4):c.556A>G (p.Met186Val)	OTUD4 (M121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248767	NM_001366057.1(OTUD4):c.545G>A (p.Ser182Asn)	OTUD4 (S182N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303687	NM_001366057.1(OTUD4):c.470A>G (p.Tyr157Cys)	OTUD4 (Y157C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655111	NM_001366057.1(OTUD4):c.456G>A (p.Val152=)	OTUD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3035947	NM_001366057.1(OTUD4):c.81C>T (p.Ala27=)	OTUD4	Single nucleotide variant (synonymous variant)	OTUD4-related disorder	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062794	GRCh37/hg19 4q31.21-31.22(chr4:145985709-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062793	GRCh37/hg19 4q31.21-31.22(chr4:145985742-147160169)x3	ABCE1, ANAPC10 +6 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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 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 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
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 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 97