RNF150[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	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 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	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 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
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 2248413	NM_020724.2(RNF150):c.1207G>C (p.Glu403Gln)	RNF150 (E403Q)	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 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
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 2349601	NM_020724.2(RNF150):c.1100T>C (p.Val367Ala)	RNF150 (V367A)	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 3155107	NM_020724.2(RNF150):c.868G>A (p.Val290Ile)	RNF150 (V290I)	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 2223693	NM_020724.2(RNF150):c.525A>C (p.Lys175Asn)	RNF150 (K175N)	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 2535414	NM_020724.2(RNF150):c.402C>A (p.Asn134Lys)	RNF150 (N134K)	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 2508926	NM_020724.2(RNF150):c.332C>T (p.Pro111Leu)	RNF150 (P111L)	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 2273254	NM_020724.2(RNF150):c.263G>A (p.Gly88Glu)	RNF150 (G88E)	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 2267535	NM_020724.2(RNF150):c.206C>G (p.Thr69Arg)	RNF150 (T69R)	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 3155106	NM_020724.2(RNF150):c.68T>G (p.Phe23Cys)	RNF150 (F23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2374401	NM_020724.2(RNF150):c.55C>A (p.Leu19Ile)	RNF150 (L19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55