TXNDC15[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 59471	GRCh38/hg38 5q31.1(chr5:134873523-135297352)x3	CATSPER3, EPIST +14 more	Copy number gain	See cases	GUncertain significance
Select item 1924319	NM_024715.4(TXNDC15):c.6C>T (p.Val2=)	TXNDC15	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3058651	NM_024715.4(TXNDC15):c.27G>T (p.Pro9=)	TXNDC15	Single nucleotide variant (5 prime UTR variant +1 more)	TXNDC15-related disorder	GLikely benign
Select item 2985282	NM_024715.4(TXNDC15):c.42G>A (p.Arg14=)	TXNDC15	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3045423	NM_024715.4(TXNDC15):c.85C>G (p.Pro29Ala)	TXNDC15 (P29A)	Single nucleotide variant (missense variant +1 more)	TXNDC15-related disorder	GLikely benign
Select item 266075	NM_024715.4(TXNDC15):c.103+1G>A	TXNDC15	Single nucleotide variant (intron variant +1 more)	Meckel syndrome 14	GPathogenic
Select item 2655710	NM_024715.4(TXNDC15):c.103+836del	TXNDC15	Deletion (intron variant)	not provided	GBenign
Select item 2655711	NM_024715.4(TXNDC15):c.103+837G>T	TXNDC15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2084183	NM_024715.4(TXNDC15):c.104-10del	TXNDC15	Deletion (intron variant)	not provided	GBenign
Select item 2208208	NM_024715.4(TXNDC15):c.104T>C (p.Val35Ala)	TXNDC15 (V35A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330373	NM_024715.4(TXNDC15):c.197A>G (p.His66Arg)	TXNDC15 (H66R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466475	NM_024715.4(TXNDC15):c.203C>T (p.Pro68Leu)	TXNDC15 (P68L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1687009	NM_024715.4(TXNDC15):c.211dup (p.Gln71fs)	TXNDC15 (Q3fs +1 more)	Duplication (frameshift variant)	Meckel syndrome 14	GPathogenic
Select item 1626522	NM_024715.4(TXNDC15):c.240G>A (p.Ala80=)	TXNDC15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1947875	NM_024715.4(TXNDC15):c.264C>T (p.Gly88=)	TXNDC15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805689	NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln)	TXNDC15 (E102Q +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome	GUncertain significance
Select item 1559526	NM_024715.4(TXNDC15):c.312A>G (p.Lys104=)	TXNDC15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2180878	NM_024715.4(TXNDC15):c.317G>C (p.Ser106Thr)	TXNDC15 (S38T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2471828	NM_024715.4(TXNDC15):c.331G>A (p.Gly111Ser)	TXNDC15 (G43S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604571	NM_024715.4(TXNDC15):c.334G>A (p.Val112Ile)	TXNDC15 (V112I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185155	NM_024715.4(TXNDC15):c.356C>T (p.Ala119Val)	TXNDC15 (A51V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1591360	NM_024715.4(TXNDC15):c.376G>A (p.Val126Ile)	TXNDC15 (V126I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 932395	NM_024715.4(TXNDC15):c.379C>T (p.Arg127Ter)	TXNDC15 (R59* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2889015	NM_024715.4(TXNDC15):c.383A>G (p.Glu128Gly)	TXNDC15 (E128G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2906727	NM_024715.4(TXNDC15):c.405C>T (p.Gly135=)	TXNDC15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185156	NM_024715.4(TXNDC15):c.424G>T (p.Asp142Tyr)	TXNDC15 (D142Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330371	NM_024715.4(TXNDC15):c.445A>G (p.Thr149Ala)	TXNDC15 (T81A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185157	NM_024715.4(TXNDC15):c.482C>T (p.Thr161Ile)	TXNDC15 (T93I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2007784	NM_024715.4(TXNDC15):c.489C>G (p.Asp163Glu)	TXNDC15 (D95E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633138	NM_024715.4(TXNDC15):c.523G>C (p.Val175Leu)	TXNDC15 (V107L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540161	NM_024715.4(TXNDC15):c.535G>A (p.Glu179Lys)	TXNDC15 (E179K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326582	NM_024715.4(TXNDC15):c.622A>G (p.Ser208Gly)	TXNDC15 (S140G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687010	NM_024715.4(TXNDC15):c.635T>C (p.Leu212Pro)	TXNDC15 (L212P +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome 14	GPathogenic
Select item 3185158	NM_024715.4(TXNDC15):c.653C>T (p.Pro218Leu)	TXNDC15 (P150L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330372	NM_024715.4(TXNDC15):c.657G>C (p.Trp219Cys)	TXNDC15 (W151C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522354	NM_024715.4(TXNDC15):c.661C>T (p.Arg221Cys)	TXNDC15 (R221C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 266074	NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)	TXNDC15	Deletion (inframe_deletion)	Meckel syndrome 14	GPathogenic
Select item 1965900	NM_024715.4(TXNDC15):c.691_726dup (p.Phe242_Leu243insAsnSerLeuProArgAlaPheProAlaLeuHisPhe)	TXNDC15	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2501781	NM_024715.4(TXNDC15):c.703C>T (p.Arg235Trp)	TXNDC15 (R167W +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 2995440	NM_024715.4(TXNDC15):c.756-4G>T	TXNDC15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2308595	NM_024715.4(TXNDC15):c.800T>C (p.Leu267Ser)	TXNDC15 (L267S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237354	NM_024715.4(TXNDC15):c.841G>T (p.Asp281Tyr)	TXNDC15 (D281Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 684428	NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter)	TXNDC15 (R214* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome	GPathogenic
Select item 2491257	NM_024715.4(TXNDC15):c.925G>C (p.Asp309His)	TXNDC15 (D309H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594848	NM_024715.4(TXNDC15):c.932T>C (p.Ile311Thr)	TXNDC15 (I243T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687008	NM_024715.4(TXNDC15):c.956dup (p.Ser321fs)	TXNDC15 (S253fs +1 more)	Duplication (frameshift variant)	Meckel syndrome 14	GPathogenic
Select item 2867899	NM_024715.4(TXNDC15):c.963T>C (p.Ser321=)	TXNDC15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2684432	GRCh37/hg19 5q31.1(chr5:133713529-134383753)x3	C5orf24, CAMLG +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	POLR3G, POU4F3 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 66