"PreventionGenetics, part of Exact Sciences"[submitter] AND "NUP85"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1600474	NM_024844.5(NUP85):c.46G>A (p.Val16Met)	NUP85 (V16M)	Single nucleotide variant (missense variant +1 more)	NUP85-related disorder +1 more	GBenign
Select item 1600649	NM_024844.5(NUP85):c.186T>C (p.Asp62=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +1 more	GBenign
Select item 1327039	NM_024844.5(NUP85):c.735C>T (p.Pro245=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +2 more	GBenign
Select item 1657786	NM_024844.5(NUP85):c.742A>G (p.Thr248Ala)	NUP85 (T202A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1606519	NM_024844.5(NUP85):c.823G>A (p.Ala275Thr)	NUP85 (A229T +2 more)	Single nucleotide variant (missense variant)	NUP85-related disorder +1 more	GBenign
Select item 3049964	NM_024844.5(NUP85):c.1178+10C>T	NUP85	Single nucleotide variant (intron variant)	NUP85-related disorder	GLikely benign
Select item 2857083	NM_024844.5(NUP85):c.1488C>T (p.Ala496=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +1 more	GLikely benign
Select item 1643795	NM_024844.5(NUP85):c.1663G>A (p.Asp555Asn)	NUP85 (D509N +2 more)	Single nucleotide variant (missense variant)	NUP85-related disorder +1 more	GBenign
Select item 1628325	NM_024844.5(NUP85):c.1680T>C (p.Leu560=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +1 more	GBenign
Select item 1327041	NM_024844.5(NUP85):c.1740C>T (p.Asp580=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +2 more	GBenign
Select item 2045028	NM_024844.5(NUP85):c.1857C>T (p.Thr619=)	NUP85	Single nucleotide variant (synonymous variant)	NUP85-related disorder +1 more	GBenign/Likely benign