PABPC4L[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	C4orf33, CLGN +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 146106	GRCh38/hg38 4q28.3(chr4:134021881-134259155)x1	PABPC4L	Copy number loss	See cases	GBenign
Select item 147849	GRCh38/hg38 4q28.3(chr4:134022081-134259014)x1	PABPC4L	Copy number loss	See cases	GBenign
Select item 154838	GRCh38/hg38 4q28.3(chr4:134022175-134259030)x1	PABPC4L	Copy number loss	See cases	GLikely benign
Select item 2528408	NM_001114734.2(PABPC4L):c.1108C>T (p.His370Tyr)	PABPC4L (H370Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530080	NM_001114734.2(PABPC4L):c.928C>G (p.Arg310Gly)	PABPC4L (R310G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526182	NM_001114734.2(PABPC4L):c.766A>G (p.Asn256Asp)	PABPC4L (N256D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330161	NM_001114734.2(PABPC4L):c.691G>T (p.Gly231Cys)	PABPC4L (G231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465056	NM_001114734.2(PABPC4L):c.649C>G (p.Leu217Val)	PABPC4L (L217V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309259	NM_001114734.2(PABPC4L):c.605A>T (p.Asp202Val)	PABPC4L (D202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279704	NM_001114734.2(PABPC4L):c.472A>G (p.Asn158Asp)	PABPC4L (N158D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313294	NM_001114734.2(PABPC4L):c.412G>A (p.Gly138Ser)	PABPC4L (G138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484496	NM_001114734.2(PABPC4L):c.320A>G (p.Lys107Arg)	PABPC4L (K107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550236	NM_001114734.2(PABPC4L):c.151C>A (p.Leu51Met)	PABPC4L (L51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606178	NM_001114734.2(PABPC4L):c.106G>A (p.Val36Met)	PABPC4L (V36M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589540	NM_001114734.2(PABPC4L):c.56C>T (p.Ala19Val)	PABPC4L (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517612	NM_001114734.2(PABPC4L):c.17A>G (p.Lys6Arg)	PABPC4L (K6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456745	NM_001114734.2(PABPC4L):c.-51G>A	PABPC4L	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2243045	NM_001114734.2(PABPC4L):c.-89A>C	PABPC4L	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2350593	NM_001114734.2(PABPC4L):c.-168G>A	PABPC4L	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	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 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	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340676	GRCh37/hg19 4q28.3(chr4:134983908-135303785)x3	PABPC4L	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 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	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 980139	GRCh37/hg19 4q28.3(chr4:133874103-138426933)x1	PCDH10, PABPC4L	Copy number loss	not provided	GUncertain significance
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 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 562969	GRCh37/hg19 4q28.3(chr4:132890351-135831973)x3	PABPC4L, PCDH10	Copy number gain	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +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	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	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

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Items: 46