ClinVar for MedGen (Select 1675450) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442042	NM_002532.6(NUP88):c.1117C>T (p.Leu373Phe)	NUP88 (L373F)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4	GUncertain significance
Select item 2434474	NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)	NUP88 (G6R)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4	GUncertain significance
Select item 2434473	NM_002532.6(NUP88):c.585C>T (p.Asn195=)	LOC126862474, NUP88	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 4	GUncertain significance
Select item 1327052	NM_002532.6(NUP88):c.468-38G>T	LOC126862474, NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327051	NM_002532.6(NUP88):c.1292-19G>A	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327050	NM_002532.6(NUP88):c.1389A>T (p.Pro463=)	NUP88	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327049	NM_002532.6(NUP88):c.1836-38G>T	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327048	NM_002532.6(NUP88):c.1916+3C>T	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327047	NM_002532.6(NUP88):c.1916+25T>G	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327043	NM_002532.6(NUP88):c.2157A>G (p.Lys719=)	NUP88	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 4	GBenign
Select item 1327042	NM_002532.6(NUP88):c.2172T>C (p.His724=)	NUP88, RABEP1	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 4	GBenign
Select item 1029454	NM_002532.6(NUP88):c.1510C>T (p.Pro504Ser)	NUP88 (P504S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4	GUncertain significance
Select item 625470	NM_002532.6(NUP88):c.1899_1901del (p.Glu634del)	NUP88 (E634del +1 more)	Deletion (inframe_deletion)	Fetal akinesia deformation sequence 4	GPathogenic
Select item 625469	NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter)	NUP88 (R509*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 4	GPathogenic
Select item 625468	NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr)	NUP88 (D434Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4	GPathogenic