C4orf33[gene] - ClinVar

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Items: 35

	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	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 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 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +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 154730	GRCh38/hg38 4q28.2(chr4:128270464-129216993)x3	C4orf33, JADE1 +39 more	Copy number gain	See cases	GLikely benign
Select item 150033	GRCh38/hg38 4q28.2-28.3(chr4:128819739-131409625)x1	C4orf33, JADE1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 148027	GRCh38/hg38 4q28.2(chr4:128877983-129510533)x1	C4orf33, LOC129993080 +3 more	Copy number loss	See cases	GUncertain significance
Select item 146035	GRCh38/hg38 4q28.2-28.3(chr4:129082327-130146999)x3	C4orf33, LINC02465 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2387775	NM_001099783.2(C4orf33):c.142G>A (p.Glu48Lys)	C4orf33 (E48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241685	NM_001099783.2(C4orf33):c.396C>A (p.Phe132Leu)	C4orf33 (F132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205176	NM_001099783.2(C4orf33):c.413A>G (p.His138Arg)	C4orf33 (H138R)	Single nucleotide variant (missense variant)	not specified	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	AFG2A, AFM +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 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1339962	GRCh37/hg19 4q28.2(chr4:129938155-130059879)x1	C4orf33, SCLT1	Copy number loss	not provided	GUncertain significance
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	MYOZ2, PRDM5 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 980138	GRCh37/hg19 4q28.2(chr4:129934030-130525606)x1	C4orf33, SCLT1	Copy number loss	not provided	GUncertain significance
Select item 814608	GRCh37/hg19 4q28.2-28.3(chr4:128898820-132769588)x1	SCLT1, PGRMC2 +4 more	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 562968	GRCh37/hg19 4q28.2(chr4:129780816-130538554)x3	SCLT1, C4orf33 +1 more	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	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +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: 35