TNPO1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3038514	NM_002270.4(TNPO1):c.-7G>A	LOC129994036, TNPO1	Single nucleotide variant (5 prime UTR variant)	TNPO1-related disorder	GLikely benign
Select item 2619711	NM_002270.4(TNPO1):c.19A>T (p.Thr7Ser)	TNPO1 (T7S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3035166	NM_002270.4(TNPO1):c.355+8A>G	TNPO1	Single nucleotide variant (intron variant)	TNPO1-related disorder	GBenign
Select item 3180543	NM_002270.4(TNPO1):c.358A>G (p.Ile120Val)	TNPO1 (I112V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050401	NM_002270.4(TNPO1):c.360T>C (p.Ile120=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GLikely benign
Select item 3180544	NM_002270.4(TNPO1):c.448T>A (p.Tyr150Asn)	TNPO1 (Y150N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623557	NM_002270.4(TNPO1):c.448T>C (p.Tyr150His)	TNPO1 (Y142H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038538	NM_002270.4(TNPO1):c.477C>T (p.Ala159=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GLikely benign
Select item 2628974	NM_002270.4(TNPO1):c.532C>T (p.Arg178Cys)	TNPO1 (R128C +2 more)	Single nucleotide variant (missense variant)	TNPO1-related disorder	GUncertain significance
Select item 2335786	NM_002270.4(TNPO1):c.831T>G (p.Asp277Glu)	TNPO1 (D227E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180545	NM_002270.4(TNPO1):c.845T>C (p.Leu282Ser)	TNPO1 (L282S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180546	NM_002270.4(TNPO1):c.898G>A (p.Val300Ile)	TNPO1 (V300I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042536	NM_002270.4(TNPO1):c.916C>T (p.Pro306Ser)	TNPO1 (P256S +2 more)	Single nucleotide variant (missense variant)	TNPO1-related disorder	GBenign
Select item 3042355	NM_002270.4(TNPO1):c.1017T>C (p.Ser339=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GLikely benign
Select item 2476683	NM_002270.4(TNPO1):c.1037G>A (p.Arg346His)	TNPO1 (R346H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458438	NM_002270.4(TNPO1):c.1095A>C (p.Glu365Asp)	TNPO1 (E357D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454713	NM_002270.4(TNPO1):c.1171C>G (p.Leu391Val)	TNPO1 (L383V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771379	NM_002270.4(TNPO1):c.1303+7_1303+80del	TNPO1	Deletion (intron variant)	not provided	GBenign
Select item 3035423	NM_002270.4(TNPO1):c.1304-10T>G	TNPO1	Single nucleotide variant (intron variant)	TNPO1-related disorder	GLikely benign
Select item 2598319	NM_002270.4(TNPO1):c.1358A>G (p.Gln453Arg)	TNPO1 (Q403R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273483	NM_002270.4(TNPO1):c.1369G>A (p.Asp457Asn)	TNPO1 (D449N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180541	NM_002270.4(TNPO1):c.1378G>T (p.Ala460Ser)	TNPO1 (A410S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213724	NM_002270.4(TNPO1):c.1451C>T (p.Thr484Met)	TNPO1 (T434M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036273	NM_002270.4(TNPO1):c.1529+9G>C	TNPO1	Single nucleotide variant (intron variant)	TNPO1-related disorder	GLikely benign
Select item 3040821	NM_002270.4(TNPO1):c.1599C>T (p.Thr533=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GLikely benign
Select item 3034014	NM_002270.4(TNPO1):c.1668A>G (p.Leu556=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GLikely benign
Select item 2547224	NM_002270.4(TNPO1):c.1748T>C (p.Met583Thr)	TNPO1 (M533T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387295	NM_002270.4(TNPO1):c.1904A>G (p.Asn635Ser)	TNPO1 (N627S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340936	NM_002270.4(TNPO1):c.2132A>T (p.Lys711Met)	TNPO1 (K661M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057008	NM_002270.4(TNPO1):c.2217A>G (p.Ala739=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GBenign
Select item 2255477	NM_002270.4(TNPO1):c.2255A>G (p.Gln752Arg)	TNPO1 (Q752R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475254	NM_002270.4(TNPO1):c.2365G>A (p.Val789Ile)	TNPO1 (V739I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395759	NM_002270.4(TNPO1):c.2432A>G (p.Asn811Ser)	TNPO1 (N803S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043160	NM_002270.4(TNPO1):c.2544A>G (p.Ala848=)	TNPO1	Single nucleotide variant (synonymous variant)	TNPO1-related disorder	GLikely benign
Select item 3180542	NM_002270.4(TNPO1):c.2659C>G (p.Pro887Ala)	TNPO1 (P837A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 685724	GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3	FCHO2, TMEM171 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685723	GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3	FCHO2, TMEM171 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
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

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Items: 44