ClinVar for Gene (Select 25828) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022250	NM_012473.4(TXN2):c.264-11C>T	TXN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962563	NM_012473.4(TXN2):c.387+8T>C	TXN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959403	NM_012473.4(TXN2):c.108A>G (p.Gln36=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903909	NM_012473.4(TXN2):c.165G>C (p.Thr55=)	TXN2	Single nucleotide variant (synonymous variant)	TXN2-related condition +1 more	GLikely benign
Select item 2879545	NM_012473.4(TXN2):c.501A>C (p.Ter167Cys)	TXN2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2716836	NM_012473.4(TXN2):c.38C>G (p.Ser13Cys)	TXN2 (S13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653105	NC_000022.11:g.36481648_36481649insGGGA	TXN2	Insertion	not provided	GBenign
Select item 2627270	NC_000022.10:g.(?_36863092)_(36877688_?)dup	TXN2	Duplication	not specified	GUncertain significance
Select item 2583003	NM_012473.4(TXN2):c.261A>C (p.Ala87=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577086	NM_012473.4(TXN2):c.388-1G>A	TXN2	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2495530	NM_012473.4(TXN2):c.53A>G (p.Lys18Arg)	TXN2 (K18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427937	NM_012473.4(TXN2):c.429C>T (p.Asp143=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2411606	NM_012473.4(TXN2):c.313G>T (p.Ala105Ser)	TXN2 (A105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315044	NM_012473.4(TXN2):c.140A>C (p.Asn47Thr)	TXN2 (N47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302193	NM_012473.4(TXN2):c.496G>A (p.Gly166Ser)	TXN2 (G166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293364	NM_012473.4(TXN2):c.242T>A (p.Val81Glu)	TXN2 (V81E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220795	NM_012473.4(TXN2):c.86C>G (p.Ser29Cys)	TXN2 (S29C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190343	NM_012473.4(TXN2):c.149G>A (p.Arg50Gln)	TXN2 (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170439	NM_012473.4(TXN2):c.293C>T (p.Pro98Leu)	TXN2 (P98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140426	NM_012473.4(TXN2):c.494T>C (p.Ile165Thr)	TXN2 (I165T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2106608	NM_012473.4(TXN2):c.119G>C (p.Gly40Ala)	TXN2 (G40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026294	NM_012473.4(TXN2):c.30C>G (p.Phe10Leu)	TXN2 (F10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011048	NM_012473.4(TXN2):c.50G>C (p.Arg17Thr)	TXN2 (R17T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962579	NM_012473.4(TXN2):c.480C>T (p.Phe160=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957914	NM_012473.4(TXN2):c.157T>C (p.Tyr53His)	TXN2 (Y53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945062	NM_012473.4(TXN2):c.388-15G>A	TXN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928057	NM_012473.4(TXN2):c.129_130delinsAC (p.Val44Leu)	TXN2 (V44L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1925995	NM_012473.4(TXN2):c.303G>A (p.Glu101=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909833	NM_012473.4(TXN2):c.223G>A (p.Val75Ile)	TXN2 (V75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909263	NM_012473.4(TXN2):c.324C>T (p.His108=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899123	NM_012473.4(TXN2):c.307A>G (p.Met103Val)	TXN2 (M103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895675	NM_012473.4(TXN2):c.264-10_264-9delinsCT	TXN2	Indel (intron variant)	not provided	GLikely benign
Select item 1808185	GRCh37/hg19 22q12.3(chr22:36751242-36971521)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807621	GRCh37/hg19 22q12.3(chr22:36693899-36963432)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 1488709	NM_012473.4(TXN2):c.334G>C (p.Val112Leu)	TXN2 (V112L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483901	NC_000022.10:g.(?_36876602)_(36876884_?)dup	TXN2	Duplication	not provided	GUncertain significance
Select item 1362362	NM_012473.4(TXN2):c.238C>T (p.Pro80Ser)	TXN2 (P80S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339884	GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3	CACNG2, EIF3D +2 more	Copy number gain	not provided	Gnot provided
Select item 1294498	NC_000022.11:g.36481648_36481649insGA	TXN2	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 1280669	NM_012473.4(TXN2):c.387+30A>C	TXN2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 29 +1 more	GBenign
Select item 1271118	NM_012473.4(TXN2):c.388-99C>A	TXN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231242	NM_012473.4(TXN2):c.1-174T>C	TXN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222057	NM_012473.4(TXN2):c.*173AG[1]	TXN2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1031205	NM_012473.4(TXN2):c.376A>G (p.Ile126Val)	TXN2 (I126V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 29 +2 more	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 774540	NM_012473.4(TXN2):c.294G>A (p.Pro98=)	TXN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 756285	NM_012473.4(TXN2):c.469T>C (p.Leu157=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745558	NM_012473.4(TXN2):c.345G>A (p.Lys115=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735043	NM_012473.4(TXN2):c.156A>G (p.Ile52Met)	TXN2 (I52M)	Single nucleotide variant (missense variant)	TXN2-related condition +1 more	GBenign/Likely benign
Select item 731533	NM_012473.4(TXN2):c.264-10G>A	TXN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712874	NM_012473.4(TXN2):c.33G>A (p.Leu11=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708017	NM_012473.4(TXN2):c.258C>T (p.His86=)	TXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689129	GRCh37/hg19 22q12.3(chr22:36704833-36911784)x3	EIF3D, FOXRED2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688821	GRCh37/hg19 22q12.3(chr22:36831984-37009111)x3	CACNG2, EIF3D +2 more	Copy number gain	not provided	GUncertain significance
Select item 687399	GRCh37/hg19 22q12.3(chr22:36831022-37009180)x4	CACNG2, EIF3D +2 more	Copy number gain	not provided	GUncertain significance
Select item 686689	GRCh37/hg19 22q12.3(chr22:36704833-36968932)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685333	GRCh37/hg19 22q12.3(chr22:36746223-36971882)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 560096	Single allele	TXN2, CACNG2 +2 more	Duplication	not provided	GUncertain significance
Select item 446043	NM_012473.4(TXN2):c.35C>T (p.Ala12Val)	TXN2 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 222023	NM_012473.4(TXN2):c.71G>A (p.Trp24Ter)	TXN2 (W24*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 29	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 149028	GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3	CACNG2, EIF3D +26 more	Copy number gain	See cases	GUncertain significance
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78