"PreventionGenetics, part of Exact Sciences"[submitter] AND "NUP107"[g - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029331	NM_020401.4(NUP107):c.8+10G>A	NUP107	Single nucleotide variant (intron variant)	NUP107-related condition	GLikely benign
Select item 734342	NM_020401.4(NUP107):c.91A>G (p.Arg31Gly)	NUP107 (R31G)	Single nucleotide variant (5 prime UTR variant +1 more)	NUP107-related condition +2 more	GBenign/Likely benign
Select item 3031601	NM_020401.4(NUP107):c.188-37G>T	NUP107	Single nucleotide variant (intron variant)	NUP107-related condition	GLikely benign
Select item 2046824	NM_020401.4(NUP107):c.304-10T>G	NUP107	Single nucleotide variant (intron variant)	NUP107-related condition +1 more	GLikely benign
Select item 774484	NM_020401.4(NUP107):c.353G>A (p.Arg118His)	NUP107 (R118H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 3031733	NM_020401.4(NUP107):c.387T>C (p.Ser129=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition	GLikely benign
Select item 2053998	NM_020401.4(NUP107):c.424C>T (p.Arg142Cys)	NUP107 (R113C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 737574	NM_020401.4(NUP107):c.751A>T (p.Thr251Ser)	NUP107 (T222S +1 more)	Single nucleotide variant (missense variant)	NUP107-related condition +1 more	GLikely benign
Select item 2191175	NM_020401.4(NUP107):c.765G>A (p.Ala255=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition +1 more	GLikely benign
Select item 2635666	NM_020401.4(NUP107):c.790C>T (p.Arg264Ter)	NUP107 (R235* +1 more)	Single nucleotide variant (nonsense)	NUP107-related condition	GLikely pathogenic
Select item 3050907	NM_020401.4(NUP107):c.802C>T (p.Leu268=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition	GLikely benign
Select item 3035286	NM_020401.4(NUP107):c.885A>G (p.Val295=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition	GLikely benign
Select item 1922979	NM_020401.4(NUP107):c.885A>C (p.Val295=)	NUP107	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1622149	NM_020401.4(NUP107):c.1207T>C (p.Tyr403His)	NUP107 (Y374H +1 more)	Single nucleotide variant (missense variant)	NUP107-related condition +1 more	GLikely benign
Select item 2630497	NM_020401.4(NUP107):c.1226dup (p.Ser410fs)	NUP107 (S381fs +1 more)	Duplication (frameshift variant)	NUP107-related condition	GLikely pathogenic
Select item 3046856	NM_020401.4(NUP107):c.1576+9T>C	NUP107	Single nucleotide variant (intron variant)	NUP107-related condition	GLikely benign
Select item 2633527	NM_020401.4(NUP107):c.1577-1G>T	NUP107	Single nucleotide variant (splice acceptor variant)	NUP107-related condition	GLikely pathogenic
Select item 3054588	NM_020401.4(NUP107):c.1944T>C (p.Asn648=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition	GLikely benign
Select item 737882	NM_020401.4(NUP107):c.2049G>A (p.Ala683=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition +1 more	GLikely benign
Select item 2142971	NM_020401.4(NUP107):c.2262+9_2262+10del	NUP107	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 3049669	NM_020401.4(NUP107):c.2340A>C (p.Pro780=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition	GLikely benign
Select item 3048576	NM_020401.4(NUP107):c.2379G>A (p.Lys793=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related condition	GLikely benign
Select item 3049940	NM_020401.4(NUP107):c.2437G>A (p.Val813Met)	NUP107 (V784M +1 more)	Single nucleotide variant (missense variant)	NUP107-related condition	GUncertain significance

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Items: 23