Related gene-specific medical variations for Gene (Select 9972) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301456	NM_005124.4(NUP153):c.1129A>G (p.Thr377Ala)	LOC123620063, NUP153 (T377A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202988	NM_005124.4(NUP153):c.83C>T (p.Pro28Leu)	NUP153, NUP153-AS1 (P28L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202985	NM_005124.4(NUP153):c.65A>T (p.His22Leu)	NUP153, NUP153-AS1 (H22L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202983	NM_005124.4(NUP153):c.50G>A (p.Arg17Gln)	NUP153, NUP153-AS1 (R17Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604562	NM_005124.4(NUP153):c.66C>G (p.His22Gln)	NUP153, NUP153-AS1 (H22Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2266573	NM_005124.4(NUP153):c.1169C>T (p.Ser390Phe)	LOC123620063, NUP153 (S390F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773466	NM_005124.4(NUP153):c.95G>A (p.Gly32Glu)	NUP153, NUP153-AS1 (G32E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign

ClinVar