TDO2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	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 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 60201	GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1	ASIC5, CTSO +6 more	Copy number loss	See cases	GUncertain significance
Select item 3175403	NM_005651.4(TDO2):c.5G>C (p.Ser2Thr)	TDO2 (S2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325081	NM_005651.4(TDO2):c.69C>A (p.Ser23Arg)	TDO2 (S23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290767	NM_005651.4(TDO2):c.172C>A (p.Gln58Lys)	TDO2 (Q58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328438	NM_005651.4(TDO2):c.302A>G (p.His101Arg)	TDO2 (H101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 440855	NM_005651.4(TDO2):c.324G>C (p.Met108Ile)	TDO2 (M108I)	Single nucleotide variant (missense variant)	Familial hypertryptophanemia	GPathogenic
Select item 2389274	NM_005651.4(TDO2):c.341G>A (p.Arg114Gln)	TDO2 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783385	NM_005651.4(TDO2):c.355T>C (p.Ser119Pro)	TDO2 (S119P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3325082	NM_005651.4(TDO2):c.376G>C (p.Val126Leu)	TDO2 (V126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240395	NM_005651.4(TDO2):c.410C>T (p.Ala137Val)	TDO2 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254947	NM_005651.4(TDO2):c.454G>A (p.Gly152Ser)	TDO2 (G152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 440854	NM_005651.4(TDO2):c.491dup (p.Ile165fs)	TDO2 (I165fs)	Duplication (frameshift variant)	Familial hypertryptophanemia	GPathogenic
Select item 2489751	NM_005651.4(TDO2):c.503T>C (p.Leu168Pro)	TDO2 (L168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175402	NM_005651.4(TDO2):c.557G>A (p.Gly186Glu)	TDO2 (G186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175404	NM_005651.4(TDO2):c.635C>T (p.Thr212Ile)	TDO2 (T212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536194	NM_005651.4(TDO2):c.638C>T (p.Pro213Leu)	TDO2 (P213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040974	NM_005651.4(TDO2):c.678T>C (p.Leu226=)	TDO2	Single nucleotide variant (synonymous variant)	TDO2-related disorder	GLikely benign
Select item 3060816	NM_005651.4(TDO2):c.685A>C (p.Asn229His)	TDO2 (N229H)	Single nucleotide variant (missense variant)	TDO2-related disorder	GBenign
Select item 2623118	NM_005651.4(TDO2):c.725A>C (p.Gln242Pro)	TDO2 (Q242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039956	NM_005651.4(TDO2):c.803T>A (p.Phe268Tyr)	TDO2 (F268Y)	Single nucleotide variant (missense variant)	TDO2-related disorder	GLikely benign
Select item 716338	NM_005651.4(TDO2):c.918G>A (p.Val306=)	TDO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2527976	NM_005651.4(TDO2):c.919C>T (p.Pro307Ser)	TDO2 (P307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310644	NM_005651.4(TDO2):c.959T>G (p.Leu320Arg)	TDO2 (L320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325083	NM_005651.4(TDO2):c.1045C>T (p.His349Tyr)	TDO2 (H349Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257618	NM_005651.4(TDO2):c.1090G>C (p.Asp364His)	TDO2 (D364H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221814	NM_005651.4(TDO2):c.1141A>T (p.Met381Leu)	TDO2 (M381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403734	NM_005651.4(TDO2):c.1172C>T (p.Thr391Ile)	TDO2 (T391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039864	NM_005651.4(TDO2):c.1206T>C (p.Ser402=)	TDO2	Single nucleotide variant (synonymous variant)	TDO2-related disorder	GLikely benign
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 1807979	GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527132	GRCh37/hg19 4q32.1(chr4:156496866-156956631)	ASIC5, CTSO +3 more	Copy number loss	not specified	GUncertain significance
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 814618	GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1	GRIA2, GUCY1B1 +6 more	Copy number loss	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 688826	GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
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 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 685696	GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3	ASIC5, GUCY1A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	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 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 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
Select item 226162	GRCh37/hg19 4q32.1(chr4:156745682-157287454)	ASIC5, CTSO +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65