"PreventionGenetics, part of Exact Sciences"[submitter] AND "NUP133"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2640062	NM_018230.3(NUP133):c.3420C>T (p.Phe1140=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder +1 more	GLikely benign
Select item 2072071	NM_018230.3(NUP133):c.3384G>A (p.Ala1128=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3052321	NM_018230.3(NUP133):c.3181-7T>C	NUP133	Single nucleotide variant (intron variant)	NUP133-related disorder	GLikely benign
Select item 2059809	NM_018230.3(NUP133):c.3100C>T (p.Leu1034=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder +1 more	GLikely benign
Select item 1626466	NM_018230.3(NUP133):c.2885G>A (p.Arg962His)	NUP133 (R962H)	Single nucleotide variant (missense variant)	NUP133-related disorder +1 more	GBenign
Select item 1575600	NM_018230.3(NUP133):c.2561G>A (p.Gly854Asp)	NUP133 (G854D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3054052	NM_018230.3(NUP133):c.2355C>T (p.Val785=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 3053071	NM_018230.3(NUP133):c.2157T>C (p.Ile719=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 1579887	NM_018230.3(NUP133):c.2124G>A (p.Glu708=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3050917	NM_018230.3(NUP133):c.2046C>T (p.Asn682=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 2175701	NM_018230.3(NUP133):c.1999G>A (p.Ala667Thr)	NUP133 (A667T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3033048	NM_018230.3(NUP133):c.1914G>A (p.Leu638=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 3038648	NM_018230.3(NUP133):c.1899G>A (p.Pro633=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 3036109	NM_018230.3(NUP133):c.1695T>C (p.Ser565=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 3029444	NM_018230.3(NUP133):c.1521T>C (p.Thr507=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 1562555	NM_018230.3(NUP133):c.1494C>T (p.Asn498=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder +1 more	GBenign/Likely benign
Select item 1647774	NM_018230.3(NUP133):c.1196C>T (p.Ser399Phe)	NUP133 (S399F)	Single nucleotide variant (missense variant)	NUP133-related disorder +1 more	GLikely benign
Select item 2056085	NM_018230.3(NUP133):c.941G>A (p.Arg314Lys)	NUP133 (R314K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2083566	NM_018230.3(NUP133):c.870G>A (p.Thr290=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder +1 more	GLikely benign
Select item 1532256	NM_018230.3(NUP133):c.820-4A>G	NUP133	Single nucleotide variant (intron variant)	NUP133-related disorder +1 more	GBenign/Likely benign
Select item 2044934	NM_018230.3(NUP133):c.663T>A (p.Ile221=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1664201	NM_018230.3(NUP133):c.649-7T>C	NUP133	Single nucleotide variant (intron variant)	NUP133-related disorder +1 more	GBenign
Select item 1598652	NM_018230.3(NUP133):c.599T>C (p.Phe200Ser)	NUP133 (F200S)	Single nucleotide variant (missense variant)	NUP133-related disorder +1 more	GBenign
Select item 1544128	NM_018230.3(NUP133):c.595G>A (p.Ala199Thr)	NUP133 (A199T)	Single nucleotide variant (missense variant)	NUP133-related disorder +1 more	GBenign
Select item 2147721	NM_018230.3(NUP133):c.588C>T (p.Tyr196=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1176226	NM_018230.3(NUP133):c.354G>A (p.Val118=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2059449	NM_018230.3(NUP133):c.249G>A (p.Thr83=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2722063	NM_018230.3(NUP133):c.183-7dup	NUP133	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2049906	NM_018230.3(NUP133):c.87C>T (p.Pro29=)	LOC129932732, NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3056753	NM_018230.3(NUP133):c.69C>T (p.Leu23=)	LOC129932732, NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 3032550	NM_018230.3(NUP133):c.-10C>T	LOC129932732, NUP133	Single nucleotide variant (5 prime UTR variant)	NUP133-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31