ClinVar for Gene (Select 401152) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685127	GRCh37/hg19 4q26(chr4:120191741-120245035)x1	C4orf3, FABP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2351382	NM_001001701.4(ARLN):c.70G>A (p.Gly24Arg)	ARLN, LOC129993017 (G24R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527120	GRCh37/hg19 4q26-27(chr4:119902254-121463237)	C4orf3, FABP2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	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 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 814604	GRCh37/hg19 4q26(chr4:120191740-120248879)x1	C4orf3, USP53 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562964	GRCh37/hg19 4q26(chr4:120003576-120689244)x3	PDE5A, C4orf3 +3 more	Copy number gain	not provided	GLikely benign
Select item 562960	GRCh37/hg19 4q26(chr4:117108352-120317108)x1	NDST3, SEC24D +9 more	Copy number loss	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	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	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 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 150371	GRCh38/hg38 4q26(chr4:118858868-119856165)x3	C4orf3, FABP2 +22 more	Copy number gain	See cases	GLikely benign
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 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 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 28