Related gene-specific medical variations for Gene (Select 8021) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065684	NM_005085.4(NUP214):c.5954C>A (p.Ser1985Tyr)	NUP214 (S1975Y +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 3065516	NM_005085.4(NUP214):c.655T>G (p.Tyr219Asp)	NUP214 (Y219D)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 2441819	NM_005085.4(NUP214):c.417T>G (p.Phe139Leu)	NUP214 (F139L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 9	GUncertain significance
Select item 2429874	NM_005085.4(NUP214):c.6029_6030del (p.Lys2010fs)	NUP214 (K2000fs +2 more)	Deletion (frameshift variant)	Developmental disorder	GUncertain significance
Select item 2407199	NM_005085.4(NUP214):c.3409A>G (p.Thr1137Ala)	LOC108491830, NUP214 (T1127A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 431698	NM_005085.4(NUP214):c.5521+10del	NUP214	Deletion (intron variant)	Developmental delay +2 more	GLikely pathogenic

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