"GeneDx"[submitter] AND "TPO"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 58807	GRCh38/hg38 2p25.3(chr2:694400-1433587)x3	LINC01115, LINC01939 +12 more	Copy number gain	See cases	GUncertain significance
Select item 58809	GRCh38/hg38 2p25.3(chr2:1110952-1699889)x3	LOC102723730, LOC122710286 +7 more	Copy number gain	See cases	GUncertain significance
Select item 256607	NM_001206744.2(TPO):c.12C>G (p.Leu4=)	TPO	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1272828	NM_001206744.2(TPO):c.95-196A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280982	NM_001206744.2(TPO):c.95-30G>A	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182365	NM_001206744.2(TPO):c.179+206G>A	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289031	NM_001206744.2(TPO):c.180-47A>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 893323	NM_001206744.2(TPO):c.208C>G (p.Pro70Ala)	TPO (P70A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1281167	NM_001206744.2(TPO):c.349+31C>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817472	NM_001206744.2(TPO):c.358_361delinsAT (p.Ser120fs)	TPO (S120fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3181559	NM_001206744.2(TPO):c.411G>A (p.Met137Ile)	TPO (M137I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 429302	NM_001206744.2(TPO):c.478A>G (p.Asn160Asp)	TPO (N160D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286499	NM_001206744.2(TPO):c.482+143A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151411	GRCh38/hg38 2p25.3(chr2:1438270-1504110)x3	TPO	Copy number gain	See cases	GBenign
Select item 1271212	NM_001206744.2(TPO):c.483-102A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575611	NM_001206744.2(TPO):c.499G>A (p.Gly167Ser)	TPO (G167S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 331308	NM_001206744.2(TPO):c.612G>A (p.Pro204=)	TPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1274929	NM_001206744.2(TPO):c.613-42A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256616	NM_001206744.2(TPO):c.769G>T (p.Ala257Ser)	TPO (A257S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1281396	NM_001206744.2(TPO):c.819+86A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235253	NM_001206744.2(TPO):c.819+226G>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240836	NM_001206744.2(TPO):c.819+243C>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270389	NM_001206744.2(TPO):c.820-182G>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429301	NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)	TPO (A397fs)	Duplication (frameshift variant +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 3364170	NM_001206744.2(TPO):c.1310C>A (p.Ala437Glu)	TPO (A437E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364171	NM_001206744.2(TPO):c.1333C>T (p.His445Tyr)	TPO (H445Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575761	NM_001206744.2(TPO):c.1336C>G (p.Gln446Glu)	TPO (Q446E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1252172	NM_001206744.2(TPO):c.1338+116C>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 4044	NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)	TPO (Y453D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 252491	NM_001206744.2(TPO):c.1472G>A (p.Arg491His)	TPO (R491H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1264376	NM_001206744.2(TPO):c.1597+42T>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248831	NM_001206744.2(TPO):c.1597+205A>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234437	NM_001206744.2(TPO):c.1598-212C>A	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288520	NM_001206744.2(TPO):c.1598-96T>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 4042	NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)	TPO (R540* +1 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of iodide peroxidase +1 more	GPathogenic
Select item 1710270	NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)	TPO (R411W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3340330	NM_001206744.2(TPO):c.1751G>A (p.Arg584Gln)	TPO (R411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576884	NM_001206744.2(TPO):c.1768+1G>A	TPO	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1274362	NM_001206744.2(TPO):c.1768+306A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289816	NM_001206744.2(TPO):c.1769-277_1769-206del	TPO	Deletion (intron variant)	not provided	GBenign
Select item 1290193	NM_001206744.2(TPO):c.1769-277T>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267126	NM_001206744.2(TPO):c.1769-236C>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262324	NM_001206744.2(TPO):c.1769-132A>G	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449779	NM_001206744.2(TPO):c.1804C>T (p.Arg602Cys)	TPO (R602C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3368852	NM_001206744.2(TPO):c.1805G>T (p.Arg602Leu)	TPO (R429L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 331357	NM_001206744.2(TPO):c.1852G>A (p.Val618Met)	TPO (V618M +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GBenign
Select item 4054	NM_001206744.2(TPO):c.1955dup (p.Phe653fs)	TPO (F596fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 4053	NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	TPO (Q660E +2 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 1306073	NM_001206744.2(TPO):c.1996G>A (p.Asp666Asn)	TPO (D493N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256609	NM_001206744.2(TPO):c.2006+20G>A	TPO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1232553	NM_001206744.2(TPO):c.2006+324T>C	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235369	NM_001206744.2(TPO):c.2007-33C>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342387	NM_001206744.2(TPO):c.2012G>T (p.Trp671Leu)	TPO (W498L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 4050	NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)	TPO (E757* +2 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 1229151	NM_001206744.2(TPO):c.2386+128C>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430384	NM_001206744.2(TPO):c.2394C>A (p.Asn798Lys)	TPO (N798K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 4047	NM_001206744.2(TPO):c.2421dup (p.Cys808fs)	TPO (C635fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 632332	NM_001206744.2(TPO):c.2422del (p.Cys808fs)	TPO (C635fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1306072	NM_001206744.2(TPO):c.2507G>C (p.Arg836Thr)	TPO (R663T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303175	NM_001206744.2(TPO):c.2512T>A (p.Cys838Ser)	TPO (C665S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 256614	NM_001206744.2(TPO):c.2540T>C (p.Val847Ala)	TPO (V847A +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2324558	NM_001206744.2(TPO):c.2547G>T (p.Trp849Cys)	TPO (W849C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707881	NM_001206744.2(TPO):c.2548A>G (p.Ile850Val)	TPO (I677V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254323	NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)	TPO (G687R +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +1 more	GPathogenic/Likely pathogenic
Select item 1253238	NM_001206744.2(TPO):c.2619-219A>T	TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786999	NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)	TPO, LOC126806104 (A852fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1245416	NM_001206744.2(TPO):c.2748+122G>A	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331644	NM_001206744.2(TPO):c.*81C>G	TPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331645	NM_001206744.2(TPO):c.*115G>T	TPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253878	GRCh37/hg19 2p25.3(chr2:1151154-1500627)x1	TPO, SNTG2	Copy number loss	See cases	GUncertain significance
Select item 3360570	NM_001206744.2(TPO):c.2287G>A (p.Val763Met)	TPO (V590M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 74