TIGD4[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	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 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
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 150934	GRCh38/hg38 4q31.3(chr4:152519348-153381536)x1	ARFIP1, FBXW7 +39 more	Copy number loss	See cases	GUncertain significance
Select item 3177457	NM_145720.4(TIGD4):c.1490A>C (p.Asn497Thr)	TIGD4 (N497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541713	NM_145720.4(TIGD4):c.1468G>A (p.Asp490Asn)	TIGD4 (D490N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390028	NM_145720.4(TIGD4):c.1441A>C (p.Thr481Pro)	TIGD4 (T481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270925	NM_145720.4(TIGD4):c.1429A>T (p.Thr477Ser)	TIGD4 (T477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177456	NM_145720.4(TIGD4):c.1415A>G (p.Lys472Arg)	TIGD4 (K472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480790	NM_145720.4(TIGD4):c.1223G>C (p.Gly408Ala)	TIGD4 (G408A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326797	NM_145720.4(TIGD4):c.1124A>C (p.Tyr375Ser)	TIGD4 (Y375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281167	NM_145720.4(TIGD4):c.1117A>G (p.Lys373Glu)	TIGD4 (K373E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177454	NM_145720.4(TIGD4):c.1114G>T (p.Val372Phe)	TIGD4 (V372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592953	NM_145720.4(TIGD4):c.1114G>A (p.Val372Ile)	TIGD4 (V372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593674	NM_145720.4(TIGD4):c.1096G>A (p.Val366Ile)	TIGD4 (V366I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376445	NM_145720.4(TIGD4):c.946A>G (p.Ile316Val)	TIGD4 (I316V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622279	NM_145720.4(TIGD4):c.836A>G (p.Gln279Arg)	TIGD4 (Q279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177461	NM_145720.4(TIGD4):c.817G>A (p.Asp273Asn)	TIGD4 (D273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326136	NM_145720.4(TIGD4):c.796G>A (p.Glu266Lys)	TIGD4 (E266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545335	NM_145720.4(TIGD4):c.748G>A (p.Val250Met)	TIGD4 (V250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544941	NM_145720.4(TIGD4):c.712A>G (p.Thr238Ala)	TIGD4 (T238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177460	NM_145720.4(TIGD4):c.602G>A (p.Gly201Asp)	TIGD4 (G201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177459	NM_145720.4(TIGD4):c.584A>G (p.Asn195Ser)	TIGD4 (N195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177458	NM_145720.4(TIGD4):c.410A>C (p.Lys137Thr)	TIGD4 (K137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522169	NM_145720.4(TIGD4):c.197C>A (p.Ala66Asp)	TIGD4 (A66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177455	NM_145720.4(TIGD4):c.130G>A (p.Ala44Thr)	TIGD4 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295646	NM_145720.4(TIGD4):c.88A>C (p.Ile30Leu)	TIGD4 (I30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177462	NM_145720.4(TIGD4):c.82G>A (p.Asp28Asn)	TIGD4 (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596683	NM_145720.4(TIGD4):c.43G>A (p.Val15Met)	TIGD4 (V15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280555	NM_145720.4(TIGD4):c.40A>T (p.Thr14Ser)	TIGD4 (T14S)	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 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980700	GRCh37/hg19 4q31.3(chr4:153474528-153785867)x3	TIGD4, ARFIP1 +1 more	Copy number gain	not provided	GUncertain significance
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 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 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

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Items: 54