TIGD2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 2526132	NM_145715.3(TIGD2):c.70G>A (p.Glu24Lys)	TIGD2 (E24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618132	NM_145715.3(TIGD2):c.107G>C (p.Gly36Ala)	TIGD2 (G36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296073	NM_145715.3(TIGD2):c.136A>G (p.Lys46Glu)	TIGD2 (K46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326128	NM_145715.3(TIGD2):c.268C>A (p.Gln90Lys)	TIGD2 (Q90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540929	NM_145715.3(TIGD2):c.334G>A (p.Ala112Thr)	TIGD2 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481666	NM_145715.3(TIGD2):c.346G>A (p.Glu116Lys)	TIGD2 (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177441	NM_145715.3(TIGD2):c.359A>G (p.Asn120Ser)	TIGD2 (N120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214133	NM_145715.3(TIGD2):c.470G>A (p.Gly157Asp)	TIGD2 (G157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177442	NM_145715.3(TIGD2):c.551A>G (p.Lys184Arg)	TIGD2 (K184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326126	NM_145715.3(TIGD2):c.582A>C (p.Glu194Asp)	TIGD2 (E194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177443	NM_145715.3(TIGD2):c.598T>C (p.Ser200Pro)	TIGD2 (S200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525410	NM_145715.3(TIGD2):c.599C>T (p.Ser200Phe)	TIGD2 (S200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544807	NM_145715.3(TIGD2):c.643G>A (p.Ala215Thr)	TIGD2 (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326124	NM_145715.3(TIGD2):c.784T>C (p.Phe262Leu)	TIGD2 (F262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326125	NM_145715.3(TIGD2):c.1177G>C (p.Glu393Gln)	TIGD2 (E393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406893	NM_145715.3(TIGD2):c.1199T>C (p.Ile400Thr)	TIGD2 (I400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349968	NM_145715.3(TIGD2):c.1223C>A (p.Ala408Asp)	TIGD2 (A408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326127	NM_145715.3(TIGD2):c.1265A>C (p.His422Pro)	TIGD2 (H422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177437	NM_145715.3(TIGD2):c.1265A>G (p.His422Arg)	TIGD2 (H422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594136	NM_145715.3(TIGD2):c.1273A>G (p.Ile425Val)	TIGD2 (I425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177438	NM_145715.3(TIGD2):c.1274T>C (p.Ile425Thr)	TIGD2 (I425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318645	NM_145715.3(TIGD2):c.1375C>A (p.Gln459Lys)	TIGD2 (Q459K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220879	NM_145715.3(TIGD2):c.1426A>G (p.Ile476Val)	TIGD2 (I476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555373	NM_145715.3(TIGD2):c.1439C>T (p.Ala480Val)	TIGD2 (A480V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622437	NM_145715.3(TIGD2):c.1453A>G (p.Thr485Ala)	TIGD2 (T485A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177439	NM_145715.3(TIGD2):c.1459A>C (p.Asn487His)	TIGD2 (N487H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177440	NM_145715.3(TIGD2):c.1469A>T (p.Asp490Val)	TIGD2 (D490V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619069	NM_145715.3(TIGD2):c.1487A>G (p.Asp496Gly)	TIGD2 (D496G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461419	NM_145715.3(TIGD2):c.1550A>G (p.Gln517Arg)	TIGD2 (Q517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	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 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 814582	GRCh37/hg19 4q22.1(chr4:89790888-90586088)x1	GPRIN3, TIGD2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 688079	GRCh37/hg19 4q22.1(chr4:90013931-90644508)x1	GPRIN3, TIGD2	Copy number loss	not provided	GUncertain significance
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
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 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	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

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Items: 57