"PreventionGenetics, part of Exact Sciences"[submitter] AND "NUP93"[ge - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778504	NM_014669.5(NUP93):c.117G>A (p.Ala39=)	NUP93	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2889087	NM_014669.5(NUP93):c.306G>A (p.Leu102=)	NUP93	Single nucleotide variant (5 prime UTR variant +1 more)	NUP93-related disorder +1 more	GBenign/Likely benign
Select item 3036740	NM_014669.5(NUP93):c.490-3C>T	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 3058579	NM_014669.5(NUP93):c.633C>T (p.Ser211=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 2636151	NM_014669.5(NUP93):c.660T>G (p.Ile220Met)	NUP93 (I220M +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GUncertain significance
Select item 2047603	NM_014669.5(NUP93):c.696C>T (p.Asp232=)	NUP93	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 749780	NM_014669.5(NUP93):c.790C>G (p.Gln264Glu)	NUP93 (Q264E +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder +1 more	GBenign/Likely benign
Select item 3055178	NM_014669.5(NUP93):c.927+10A>G	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 3053725	NM_014669.5(NUP93):c.960G>A (p.Ala320=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 1599533	NM_014669.5(NUP93):c.999C>T (p.Ala333=)	NUP93	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3035470	NM_014669.5(NUP93):c.1000G>A (p.Ala334Thr)	NUP93 (A211T +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GLikely benign
Select item 224968	NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)	NUP93 (R388W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +2 more	GConflicting classifications of pathogenicity
Select item 3028930	NM_014669.5(NUP93):c.1167C>G (p.Ala389=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3029163	NM_014669.5(NUP93):c.1194C>T (p.Asp398=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 3049836	NM_014669.5(NUP93):c.1200C>T (p.Thr400=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 2708504	NM_014669.5(NUP93):c.1221G>A (p.Ala407=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder +1 more	GLikely benign
Select item 3036394	NM_014669.5(NUP93):c.1275C>T (p.Asp425=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder	GLikely benign
Select item 2634422	NM_014669.5(NUP93):c.1343A>G (p.Tyr448Cys)	NUP93 (Y325C +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GUncertain significance
Select item 3030330	NM_014669.5(NUP93):c.1346-25TCTCC[4]	NUP93	Microsatellite (intron variant)	NUP93-related disorder	GLikely benign
Select item 3055539	NM_014669.5(NUP93):c.1346-25TCTCC[2]	NUP93	Microsatellite (intron variant)	NUP93-related disorder	GLikely benign
Select item 2165283	NM_014669.5(NUP93):c.1461C>T (p.Cys487=)	NUP93	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029791	NM_014669.5(NUP93):c.1738-4A>G	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 736204	NM_014669.5(NUP93):c.1749T>G (p.Ile583Met)	NUP93 (I583M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 732207	NM_014669.5(NUP93):c.1897A>C (p.Lys633Gln)	NUP93 (K510Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3031351	NM_014669.5(NUP93):c.1899+5A>C	NUP93	Single nucleotide variant (intron variant)	NUP93-related disorder	GLikely benign
Select item 2635055	NM_014669.5(NUP93):c.2190_2191del (p.Arg730fs)	NUP93 (R607fs +1 more)	Microsatellite (frameshift variant)	NUP93-related disorder	GLikely pathogenic
Select item 2895718	NM_014669.5(NUP93):c.2280T>C (p.Phe760=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related disorder +1 more	GLikely benign
Select item 3061388	NM_014669.5(NUP93):c.2320C>G (p.Pro774Ala)	NUP93 (P651A +1 more)	Single nucleotide variant (missense variant)	NUP93-related disorder	GUncertain significance
Select item 722161	NM_014669.5(NUP93):c.2342G>A (p.Arg781His)	NUP93 (R658H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 29