ClinVar for Gene (Select 84076) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326266	NM_032136.5(TKTL2):c.1520T>C (p.Val507Ala)	TKTL2 (V507A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326265	NM_032136.5(TKTL2):c.612G>C (p.Gln204His)	TKTL2 (Q204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326264	NM_032136.5(TKTL2):c.725T>G (p.Ile242Arg)	TKTL2 (I242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326263	NM_032136.5(TKTL2):c.211C>G (p.Arg71Gly)	TKTL2 (R71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326262	NM_032136.5(TKTL2):c.1423C>G (p.Arg475Gly)	TKTL2 (R475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326261	NM_032136.5(TKTL2):c.163C>T (p.His55Tyr)	TKTL2 (H55Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177729	NM_032136.5(TKTL2):c.821T>C (p.Ile274Thr)	TKTL2 (I274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177728	NM_032136.5(TKTL2):c.70C>T (p.Arg24Trp)	TKTL2 (R24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177727	NM_032136.5(TKTL2):c.59C>T (p.Ala20Val)	TKTL2 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177726	NM_032136.5(TKTL2):c.557A>G (p.Asn186Ser)	TKTL2 (N186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177725	NM_032136.5(TKTL2):c.515C>T (p.Ser172Phe)	TKTL2 (S172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177724	NM_032136.5(TKTL2):c.49C>T (p.Arg17Trp)	TKTL2 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177723	NM_032136.5(TKTL2):c.42G>T (p.Gln14His)	TKTL2 (Q14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177722	NM_032136.5(TKTL2):c.318C>A (p.Ser106Arg)	TKTL2 (S106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177721	NM_032136.5(TKTL2):c.316A>T (p.Ser106Cys)	TKTL2 (S106C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177719	NM_032136.5(TKTL2):c.214T>C (p.Phe72Leu)	TKTL2 (F72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177718	NM_032136.5(TKTL2):c.178A>G (p.Lys60Glu)	TKTL2 (K60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177717	NM_032136.5(TKTL2):c.1738G>C (p.Val580Leu)	TKTL2 (V580L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177715	NM_032136.5(TKTL2):c.1627C>T (p.Pro543Ser)	TKTL2 (P543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177714	NM_032136.5(TKTL2):c.1396G>A (p.Ala466Thr)	TKTL2 (A466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177713	NM_032136.5(TKTL2):c.1117A>G (p.Met373Val)	TKTL2 (M373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177712	NM_032136.5(TKTL2):c.1037C>A (p.Thr346Lys)	TKTL2 (T346K)	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 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	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 2655167	NM_032136.5(TKTL2):c.789A>C (p.Gly263=)	TKTL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655166	NM_032136.5(TKTL2):c.1344T>C (p.Thr448=)	TKTL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622438	NM_032136.5(TKTL2):c.1493T>C (p.Val498Ala)	TKTL2 (V498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616541	NM_032136.5(TKTL2):c.182A>G (p.Gln61Arg)	TKTL2 (Q61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602922	NM_032136.5(TKTL2):c.1603G>A (p.Val535Ile)	TKTL2 (V535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534148	NM_032136.5(TKTL2):c.208G>A (p.Asp70Asn)	TKTL2 (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529359	NM_032136.5(TKTL2):c.1119G>A (p.Met373Ile)	TKTL2 (M373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526395	NM_032136.5(TKTL2):c.1354C>T (p.Pro452Ser)	TKTL2 (P452S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519575	NM_032136.5(TKTL2):c.1325G>A (p.Arg442Gln)	TKTL2 (R442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516013	NM_032136.5(TKTL2):c.1189T>G (p.Phe397Val)	TKTL2 (F397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510859	NM_032136.5(TKTL2):c.550G>A (p.Asp184Asn)	TKTL2 (D184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473825	NM_032136.5(TKTL2):c.977G>A (p.Gly326Asp)	TKTL2 (G326D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460513	NM_032136.5(TKTL2):c.1148G>A (p.Arg383His)	TKTL2 (R383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397254	NM_032136.5(TKTL2):c.64C>A (p.Arg22Ser)	TKTL2 (R22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387906	NM_032136.5(TKTL2):c.1871T>C (p.Leu624Ser)	TKTL2 (L624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382120	NM_032136.5(TKTL2):c.202G>A (p.Asp68Asn)	TKTL2 (D68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361282	NM_032136.5(TKTL2):c.892C>T (p.Pro298Ser)	TKTL2 (P298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357625	NM_032136.5(TKTL2):c.1634A>T (p.Asp545Val)	TKTL2 (D545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327062	NM_032136.5(TKTL2):c.236C>T (p.Ala79Val)	TKTL2 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324703	NM_032136.5(TKTL2):c.1672G>A (p.Gly558Ser)	TKTL2 (G558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304836	NM_032136.5(TKTL2):c.1498C>T (p.Arg500Cys)	TKTL2 (R500C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302101	NM_032136.5(TKTL2):c.953A>T (p.Lys318Met)	TKTL2 (K318M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292121	NM_032136.5(TKTL2):c.598G>A (p.Ala200Thr)	TKTL2 (A200T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284841	NM_032136.5(TKTL2):c.1159A>G (p.Ile387Val)	TKTL2 (I387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283659	NM_032136.5(TKTL2):c.1676G>T (p.Arg559Leu)	TKTL2 (R559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283463	NM_032136.5(TKTL2):c.1175C>A (p.Ala392Asp)	TKTL2 (A392D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281430	NM_032136.5(TKTL2):c.989C>G (p.Ala330Gly)	TKTL2 (A330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251515	NM_032136.5(TKTL2):c.1229C>T (p.Ser410Phe)	TKTL2 (S410F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250974	NM_032136.5(TKTL2):c.1645A>G (p.Ile549Val)	TKTL2 (I549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241949	NM_032136.5(TKTL2):c.620G>C (p.Cys207Ser)	TKTL2 (C207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227326	NM_032136.5(TKTL2):c.866T>C (p.Ile289Thr)	TKTL2 (I289T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215299	NM_032136.5(TKTL2):c.1154G>A (p.Arg385Gln)	TKTL2 (R385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208658	NM_032136.5(TKTL2):c.898A>G (p.Ile300Val)	TKTL2 (I300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808190	GRCh37/hg19 4q32.1-32.3(chr4:161461677-166911259)x1	ANP32C, CPE +14 more	Copy number loss	not provided	GUncertain significance
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	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 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
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 685286	GRCh37/hg19 4q32.1-32.3(chr4:161262167-165564515)x3	ANP32C, FSTL5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 503590	GRCh37/hg19 4q32.2(chr4:163973796-164476240)x3	NPY5R, TKTL2 +4 more	Copy number gain	See cases	GUncertain significance
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 443374	GRCh37/hg19 4q32.2-32.3(chr4:163556728-164710746)x3	MARCHF1, NAF1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	AADAT, ADAM29 +46 more	Copy number loss	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 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	AADAT, ADAM29 +40 more	Copy number loss	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 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155028	GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3	ANP32C, APELA +65 more	Copy number gain	See cases	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 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 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 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 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 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 58048	GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3	MIR578, MSMO1 +64 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 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	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 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 98