TXNRD3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ALDH1L1-AS1, ALDH1L1-AS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2560586	NC_000003.12:g.126572219C>G	TXNRD3, TXNRD3NB	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2598634	NC_000003.12:g.126572461C>T	TXNRD3, TXNRD3NB	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2345788	NC_000003.12:g.126572528C>T	TXNRD3, TXNRD3NB	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2369399	NC_000003.12:g.126572536T>G	TXNRD3, TXNRD3NB	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2607573	NM_052883.3(TXNRD3):c.1915A>G (p.Lys639Glu)	TXNRD3, TXNRD3NB (K603E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332842	NM_052883.3(TXNRD3):c.1898G>A (p.Gly633Glu)	TXNRD3NB, TXNRD3 (G597E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308661	NM_052883.3(TXNRD3):c.1894T>C (p.Ser632Pro)	TXNRD3NB, TXNRD3 (S632P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340055	NM_052883.3(TXNRD3):c.1837A>G (p.Ile613Val)	TXNRD3NB, TXNRD3 (I577V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240298	NM_052883.3(TXNRD3):c.1810C>T (p.Leu604Phe)	TXNRD3NB, TXNRD3 (L604F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516874	NM_052883.3(TXNRD3):c.1769G>A (p.Gly590Asp)	TXNRD3 (G590D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485067	NM_052883.3(TXNRD3):c.1724A>T (p.Asp575Val)	TXNRD3 (D575V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508753	NM_052883.3(TXNRD3):c.1699G>A (p.Ala567Thr)	TXNRD3 (A567T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770145	NM_052883.3(TXNRD3):c.1698= (p.Tyr566=)	TXNRD3	Variation (no sequence alteration)	not provided	GBenign
Select item 2594534	NM_052883.3(TXNRD3):c.1667C>T (p.Thr556Ile)	TXNRD3 (T556I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266662	NM_052883.3(TXNRD3):c.1511C>T (p.Ala504Val)	TXNRD3 (A504V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353287	NM_052883.3(TXNRD3):c.1468G>A (p.Ala490Thr)	TXNRD3 (A490T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408344	NM_052883.3(TXNRD3):c.1465G>T (p.Val489Phe)	TXNRD3 (V489F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225342	NM_052883.3(TXNRD3):c.1406A>G (p.Asn469Ser)	TXNRD3 (N469S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528754	NM_052883.3(TXNRD3):c.1380A>G (p.Ile460Met)	TXNRD3 (I460M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317133	NM_052883.3(TXNRD3):c.1283A>G (p.Tyr428Cys)	TXNRD3 (Y428C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209937	NM_052883.3(TXNRD3):c.1243G>A (p.Ala415Thr)	TXNRD3 (A415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323960	NM_052883.3(TXNRD3):c.1234A>G (p.Lys412Glu)	TXNRD3 (K412E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539568	NM_052883.3(TXNRD3):c.1128G>C (p.Met376Ile)	TXNRD3 (M376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342968	NM_052883.3(TXNRD3):c.1117G>A (p.Asp373Asn)	TXNRD3 (D373N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284977	NM_052883.3(TXNRD3):c.1088T>C (p.Met363Thr)	TXNRD3 (M363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294699	NM_052883.3(TXNRD3):c.1045T>G (p.Cys349Gly)	TXNRD3 (C349G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596032	NM_052883.3(TXNRD3):c.972T>C (p.Ser324=)	TXNRD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2373012	NM_052883.3(TXNRD3):c.811T>C (p.Tyr271His)	TXNRD3 (Y271H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605110	NM_052883.3(TXNRD3):c.739A>G (p.Lys247Glu)	TXNRD3 (K247E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2489297	NM_052883.3(TXNRD3):c.691G>T (p.Gly231Cys)	TXNRD3 (G231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267885	NM_052883.3(TXNRD3):c.511T>C (p.Cys171Arg)	TXNRD3 (C171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349276	NM_052883.3(TXNRD3):c.478A>T (p.Ile160Phe)	TXNRD3 (I160F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356698	NM_052883.3(TXNRD3):c.467A>G (p.Asp156Gly)	TXNRD3 (D156G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405856	NM_052883.3(TXNRD3):c.299A>C (p.Gln100Pro)	TXNRD3 (Q100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590421	NM_052883.3(TXNRD3):c.277T>C (p.Cys93Arg)	TXNRD3 (C93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298807	NM_052883.3(TXNRD3):c.226T>C (p.Cys76Arg)	TXNRD3 (C76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298683	NM_052883.3(TXNRD3):c.190G>A (p.Glu64Lys)	TXNRD3 (E64K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348532	NM_052883.3(TXNRD3):c.113C>T (p.Ala38Val)	TXNRD3 (A38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242115	NM_052883.3(TXNRD3):c.82G>A (p.Ala28Thr)	TXNRD3 (A28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370226	NM_052883.3(TXNRD3):c.72T>A (p.His24Gln)	TXNRD3 (H24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621400	NM_052883.3(TXNRD3):c.8G>A (p.Arg3Gln)	TXNRD3 (R3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 1809470	GRCh37/hg19 3q21.3(chr3:126158843-126683166)x3	C3orf22, CHCHD6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1807680	GRCh37/hg19 3q21.3(chr3:126269767-126800773)x3	C3orf22, CHCHD6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340003	GRCh37/hg19 3q21.3(chr3:126346306-126430215)x1	CHCHD6, TXNRD3	Copy number loss	not provided	GUncertain significance
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 59