TXNDC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 2490273	NM_032243.6(TXNDC2):c.-93+109G>C	TXNDC2 (K5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353229	NM_032243.6(TXNDC2):c.-93+165T>G	TXNDC2 (L24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2798124	NM_032243.6(TXNDC2):c.-92-8dup	TXNDC2	Duplication (intron variant)	not provided	GBenign
Select item 2397449	NM_032243.6(TXNDC2):c.-59C>T	TXNDC2 (P48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317376	NM_032243.6(TXNDC2):c.-47T>G	TXNDC2 (L52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250011	NM_032243.6(TXNDC2):c.-8T>C	TXNDC2 (F65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360478	NM_032243.6(TXNDC2):c.25C>T (p.Arg9Cys)	TXNDC2 (R9C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185178	NM_032243.6(TXNDC2):c.83A>G (p.Asn28Ser)	TXNDC2 (N28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461188	NM_032243.6(TXNDC2):c.101A>T (p.Gln34Leu)	TXNDC2 (Q101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252210	NM_032243.6(TXNDC2):c.158C>A (p.Pro53His)	TXNDC2 (P120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185179	NM_032243.6(TXNDC2):c.179T>A (p.Ile60Asn)	TXNDC2 (I127N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1225052	NM_032243.6(TXNDC2):c.213A>G (p.Ser71=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2267624	NM_032243.6(TXNDC2):c.237G>C (p.Glu79Asp)	TXNDC2 (E146D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533947	NM_032243.6(TXNDC2):c.245T>C (p.Ile82Thr)	TXNDC2 (I82T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386844	NM_032243.6(TXNDC2):c.298G>A (p.Ala100Thr)	TXNDC2 (A100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297142	NM_032243.6(TXNDC2):c.304G>A (p.Val102Met)	TXNDC2 (V169M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385546	NM_032243.6(TXNDC2):c.344C>G (p.Ala115Gly)	TXNDC2 (A115G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455017	NM_032243.6(TXNDC2):c.445C>T (p.Pro149Ser)	TXNDC2 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185180	NM_032243.6(TXNDC2):c.469A>G (p.Ile157Val)	TXNDC2 (I157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648567	NM_032243.6(TXNDC2):c.499C>A (p.Pro167Thr)	TXNDC2 (P167T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616971	NM_032243.6(TXNDC2):c.507G>C (p.Glu169Asp)	TXNDC2 (E169D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270495	NM_032243.6(TXNDC2):c.545C>A (p.Pro182His)	TXNDC2 (P249H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391116	NM_032243.6(TXNDC2):c.562C>T (p.Pro188Ser)	TXNDC2 (P188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513382	NM_032243.6(TXNDC2):c.578A>G (p.Lys193Arg)	TXNDC2 (K260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533839	NM_032243.6(TXNDC2):c.605T>C (p.Ile202Thr)	TXNDC2 (I269T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380774	NM_032243.6(TXNDC2):c.633G>T (p.Gln211His)	TXNDC2 (Q211H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648568	NM_032243.6(TXNDC2):c.711G>A (p.Glu237=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461184	NM_032243.6(TXNDC2):c.722A>G (p.Gln241Arg)	TXNDC2 (Q308R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391053	NM_032243.6(TXNDC2):c.752C>A (p.Pro251Gln)	TXNDC2 (P318Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648569	NM_032243.6(TXNDC2):c.786C>T (p.Ile262=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648570	NM_032243.6(TXNDC2):c.801G>A (p.Glu267=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024834	NM_032243.6(TXNDC2):c.807C>T (p.Ala269=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213192	NM_032243.6(TXNDC2):c.817A>G (p.Lys273Glu)	TXNDC2 (K273E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648571	NM_032243.6(TXNDC2):c.852C>T (p.Thr284=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648572	NM_032243.6(TXNDC2):c.861C>T (p.Pro287=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648573	NM_032243.6(TXNDC2):c.876C>T (p.Ile292=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648574	NM_032243.6(TXNDC2):c.885C>T (p.Ser295=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648575	NM_032243.6(TXNDC2):c.905C>A (p.Pro302His)	TXNDC2 (P302H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648576	NM_032243.6(TXNDC2):c.921T>C (p.Ile307=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648577	NM_032243.6(TXNDC2):c.930T>C (p.Ser310=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648578	NM_032243.6(TXNDC2):c.934A>G (p.Lys312Glu)	TXNDC2 (K312E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2271870	NM_032243.6(TXNDC2):c.986C>G (p.Ala329Gly)	TXNDC2 (A329G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185174	NM_032243.6(TXNDC2):c.1000G>C (p.Glu334Gln)	TXNDC2 (E334Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185175	NM_032243.6(TXNDC2):c.1004T>C (p.Ile335Thr)	TXNDC2 (I335T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648579	NM_032243.6(TXNDC2):c.1134G>A (p.Pro378=)	TXNDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3330378	NM_032243.6(TXNDC2):c.1143C>A (p.Asp381Glu)	TXNDC2 (D381E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404482	NM_032243.6(TXNDC2):c.1198G>A (p.Gly400Arg)	TXNDC2 (G400R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330379	NM_032243.6(TXNDC2):c.1277T>C (p.Leu426Pro)	TXNDC2 (L493P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330377	NM_032243.6(TXNDC2):c.1325A>G (p.Asn442Ser)	TXNDC2 (N509S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600774	NM_032243.6(TXNDC2):c.1402G>A (p.Asp468Asn)	TXNDC2 (D468N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185177	NM_032243.6(TXNDC2):c.1414G>A (p.Gly472Ser)	TXNDC2 (G539S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic

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