ClinVar for MedGen (Select 1718072) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434467	NM_015354.3(NUP188):c.1355G>A (p.Arg452Gln)	NUP188 (R452Q)	Single nucleotide variant (missense variant)	Sandestig-stefanova syndrome	GUncertain significance
Select item 2369550	NM_015354.3(NUP188):c.1900C>T (p.Arg634Cys)	NUP188 (R634C)	Single nucleotide variant (missense variant)	NUP188-related condition +2 more	GUncertain significance
Select item 2181970	NM_015354.3(NUP188):c.3377_3378del (p.Ser1126fs)	NUP188 (S1126fs)	Microsatellite (frameshift variant)	Sandestig-stefanova syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1327018	NM_015354.3(NUP188):c.1797-24T>C	NUP188	Single nucleotide variant (intron variant)	Sandestig-stefanova syndrome	GBenign
Select item 1327017	NM_015354.3(NUP188):c.1203+31T>C	NUP188	Single nucleotide variant (intron variant)	Sandestig-stefanova syndrome	GBenign
Select item 1172617	NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs)	NUP188 (C617fs)	Indel (frameshift variant)	Microcephaly +1 more	GLikely pathogenic
Select item 1172616	NM_015354.3(NUP188):c.3515+1G>A	NUP188	Single nucleotide variant (splice donor variant)	Microcephaly +1 more	GLikely pathogenic
Select item 918011	NM_015354.3(NUP188):c.4078C>T (p.Gln1360Ter)	NUP188 (Q1360*)	Single nucleotide variant (nonsense)	Sandestig-stefanova syndrome	GPathogenic
Select item 918010	NM_015354.3(NUP188):c.1890G>A (p.Trp630Ter)	NUP188 (W630*)	Single nucleotide variant (nonsense)	Sandestig-stefanova syndrome	GPathogenic
Select item 918009	NM_015354.3(NUP188):c.5032dup (p.Arg1678fs)	NUP188 (R1678fs)	Duplication (frameshift variant)	Sandestig-stefanova syndrome	GPathogenic
Select item 918008	NM_015354.3(NUP188):c.3144C>G (p.Tyr1048Ter)	NUP188 (Y1048*)	Single nucleotide variant (nonsense)	Sandestig-stefanova syndrome	GPathogenic
Select item 918007	NM_015354.3(NUP188):c.904_907del (p.Ile302fs)	NUP188 (I302fs)	Deletion (frameshift variant)	Sandestig-stefanova syndrome	GPathogenic
Select item 816694	NM_015354.3(NUP188):c.287dup (p.Tyr96Ter)	NUP188 (Y96*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 810438	NM_015354.3(NUP188):c.337C>T (p.Gln113Ter)	NUP188 (Q113*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 403266	NM_015354.3(NUP188):c.4596A>C (p.Ser1532=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related condition +2 more	GBenign
Select item 403265	NM_015354.3(NUP188):c.4044+6A>C	NUP188	Single nucleotide variant (intron variant)	NUP188-related condition +3 more	GBenign
Select item 403264	NM_015354.3(NUP188):c.3662-4A>G	NUP188	Single nucleotide variant (intron variant)	NUP188-related condition +2 more	GBenign
Select item 403263	NM_015354.3(NUP188):c.3516-14A>G	NUP188	Single nucleotide variant (intron variant)	Sandestig-stefanova syndrome +1 more	GBenign