ClinVar for Gene (Select 57484) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314759	NM_020724.2(RNF150):c.64T>A (p.Cys22Ser)	RNF150 (C22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155107	NM_020724.2(RNF150):c.868G>A (p.Val290Ile)	RNF150 (V290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155106	NM_020724.2(RNF150):c.68T>G (p.Phe23Cys)	RNF150 (F23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155105	NM_020724.2(RNF150):c.653T>C (p.Val218Ala)	RNF150 (V218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155103	NM_020724.2(RNF150):c.131T>A (p.Val44Glu)	RNF150 (V44E)	Single nucleotide variant (missense variant)	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 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	HPGDS, SCRG1 +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 2569508	NM_020724.2(RNF150):c.28T>C (p.Cys10Arg)	RNF150 (C10R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535414	NM_020724.2(RNF150):c.402C>A (p.Asn134Lys)	RNF150 (N134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518230	NM_020724.2(RNF150):c.221G>C (p.Cys74Ser)	RNF150 (C74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515270	NM_020724.2(RNF150):c.997G>A (p.Asp333Asn)	RNF150 (D333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508926	NM_020724.2(RNF150):c.332C>T (p.Pro111Leu)	RNF150 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402240	NM_020724.2(RNF150):c.1193C>T (p.Thr398Ile)	RNF150 (T398I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380816	NM_020724.2(RNF150):c.393G>T (p.Lys131Asn)	RNF150 (K131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374401	NM_020724.2(RNF150):c.55C>A (p.Leu19Ile)	RNF150 (L19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358148	NM_020724.2(RNF150):c.1219A>C (p.Ser407Arg)	RNF150 (S407R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349601	NM_020724.2(RNF150):c.1100T>C (p.Val367Ala)	RNF150 (V367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322406	NM_020724.2(RNF150):c.274A>T (p.Met92Leu)	RNF150 (M92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308034	NM_020724.2(RNF150):c.406T>C (p.Phe136Leu)	RNF150 (F136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273254	NM_020724.2(RNF150):c.263G>A (p.Gly88Glu)	RNF150 (G88E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267660	NM_020724.2(RNF150):c.1202A>C (p.Glu401Ala)	RNF150 (E401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267535	NM_020724.2(RNF150):c.206C>G (p.Thr69Arg)	RNF150 (T69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248413	NM_020724.2(RNF150):c.1207G>C (p.Glu403Gln)	RNF150 (E403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223693	NM_020724.2(RNF150):c.525A>C (p.Lys175Asn)	RNF150 (K175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340295	GRCh37/hg19 4q31.21(chr4:142023332-142351190)x3	RNF150, ZNF330	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 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 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 686467	GRCh37/hg19 4q31.1-31.21(chr4:141176846-142078534)x3	CLGN, ELMOD2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562971	GRCh37/hg19 4q31.21(chr4:141663149-143163452)x1	INPP4B, TBC1D9 +3 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
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 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 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	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 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	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 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55