ClinVar for Gene (Select 285533) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314795	NM_173662.4(RNF175):c.719A>C (p.Glu240Ala)	RNF175 (E240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314794	NM_173662.4(RNF175):c.284A>G (p.Tyr95Cys)	RNF175 (Y95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155196	NM_173662.4(RNF175):c.808A>G (p.Lys270Glu)	RNF175 (K270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155195	NM_173662.4(RNF175):c.617C>T (p.Ala206Val)	RNF175 (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155194	NM_173662.4(RNF175):c.595G>A (p.Glu199Lys)	RNF175 (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155193	NM_173662.4(RNF175):c.454G>A (p.Val152Ile)	RNF175 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155192	NM_173662.4(RNF175):c.397C>T (p.Pro133Ser)	RNF175 (P133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155191	NM_173662.4(RNF175):c.365G>C (p.Arg122Thr)	RNF175 (R122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155190	NM_173662.4(RNF175):c.311G>A (p.Arg104Gln)	RNF175 (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155189	NM_173662.4(RNF175):c.301T>C (p.Tyr101His)	RNF175 (Y101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155188	NM_173662.4(RNF175):c.142C>T (p.His48Tyr)	RNF175 (H48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155187	NM_173662.4(RNF175):c.128A>G (p.Lys43Arg)	RNF175 (K43R)	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 2607322	NM_173662.4(RNF175):c.163A>G (p.Met55Val)	RNF175 (M55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598323	NM_173662.4(RNF175):c.533A>G (p.Asp178Gly)	RNF175 (D178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542301	NM_173662.4(RNF175):c.461G>A (p.Gly154Asp)	RNF175 (G154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519682	NM_173662.4(RNF175):c.756T>G (p.Cys252Trp)	RNF175 (C252W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403629	NM_173662.4(RNF175):c.785G>A (p.Arg262Gln)	RNF175 (R262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394027	NM_173662.4(RNF175):c.845T>C (p.Leu282Ser)	RNF175 (L282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373666	NM_173662.4(RNF175):c.766T>C (p.Phe256Leu)	RNF175 (F256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300176	NM_173662.4(RNF175):c.397C>A (p.Pro133Thr)	RNF175 (P133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281800	NM_173662.4(RNF175):c.100T>C (p.Trp34Arg)	RNF175 (W34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269372	NM_173662.4(RNF175):c.505T>C (p.Phe169Leu)	RNF175 (F169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262872	NM_173662.4(RNF175):c.530T>C (p.Met177Thr)	RNF175 (M177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250336	NM_173662.4(RNF175):c.944T>C (p.Ile315Thr)	RNF175, TLR2 (I315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980699	GRCh37/hg19 4q31.3(chr4:154306552-154914180)x3	TLR2, MND1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
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 684516	Single allele	DCHS2, MND1 +5 more	Duplication	not provided	Gnot provided
Select item 562984	GRCh37/hg19 4q31.3(chr4:154674100-154973676)x1	RNF175, SFRP2	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 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	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 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	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 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	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 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

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Links from Gene

Items: 55