"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NUP188"[ge - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2659550	NM_015354.3(NUP188):c.124C>T (p.Arg42Ter)	NUP188 (R42*)	Single nucleotide variant (nonsense)	not provided	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 2659551	NM_015354.3(NUP188):c.609G>C (p.Trp203Cys)	NUP188 (W203C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025649	NM_015354.3(NUP188):c.825G>A (p.Glu275=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659552	NM_015354.3(NUP188):c.891G>A (p.Ala297=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659553	NM_015354.3(NUP188):c.1002C>G (p.Asn334Lys)	NUP188 (N334K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027238	NM_015354.3(NUP188):c.1005A>G (p.Pro335=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659554	NM_015354.3(NUP188):c.1140T>C (p.Cys380=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659555	NM_015354.3(NUP188):c.1432T>C (p.Tyr478His)	NUP188 (Y478H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026045	NM_015354.3(NUP188):c.1563A>G (p.Val521=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659556	NM_015354.3(NUP188):c.1684T>C (p.Cys562Arg)	NUP188 (C562R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025487	NM_015354.3(NUP188):c.1743G>A (p.Ser581=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related condition +1 more	GLikely benign
Select item 2659557	NM_015354.3(NUP188):c.1998C>A (p.Leu666=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659558	NM_015354.3(NUP188):c.2067C>A (p.Thr689=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571341	NM_015354.3(NUP188):c.2393+6G>T	NUP188	Single nucleotide variant (intron variant)	NUP188-related condition +1 more	GBenign
Select item 3027134	NM_015354.3(NUP188):c.3133T>C (p.Leu1045=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659559	NM_015354.3(NUP188):c.3255C>T (p.His1085=)	NUP188	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2659560	NM_015354.3(NUP188):c.3261C>T (p.Ala1087=)	NUP188	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2659561	NM_015354.3(NUP188):c.3297G>A (p.Glu1099=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695270	NM_015354.3(NUP188):c.3780G>T (p.Glu1260Asp)	NUP188 (E1260D)	Single nucleotide variant (missense variant)	NUP188-related condition +1 more	GBenign
Select item 2659562	NM_015354.3(NUP188):c.3839A>G (p.Asp1280Gly)	NUP188 (D1280G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 789306	NM_015354.3(NUP188):c.3974G>A (p.Arg1325His)	NUP188 (R1325H)	Single nucleotide variant (missense variant)	NUP188-related condition +1 more	GBenign/Likely benign
Select item 2659563	NM_015354.3(NUP188):c.4256C>T (p.Ala1419Val)	NUP188 (A1419V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2659564	NM_015354.3(NUP188):c.4260G>A (p.Leu1420=)	NUP188	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3025877	NM_015354.3(NUP188):c.4347G>A (p.Ala1449=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659565	NM_015354.3(NUP188):c.4510-1G>T	NUP188	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2659566	NM_015354.3(NUP188):c.4574C>T (p.Ala1525Val)	NUP188 (A1525V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659567	NM_015354.3(NUP188):c.4638C>G (p.Ala1546=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710211	NM_015354.3(NUP188):c.4734T>G (p.Asp1578Glu)	NUP188 (D1578E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2659568	NM_015354.3(NUP188):c.4761C>G (p.Asn1587Lys)	NUP188 (N1587K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2659569	NM_015354.3(NUP188):c.4902A>C (p.Ala1634=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636086	NM_015354.3(NUP188):c.5003G>A (p.Arg1668Gln)	NUP188 (R1668Q)	Single nucleotide variant (missense variant)	NUP188-related condition +1 more	GUncertain significance
Select item 3067513	NM_015354.3(NUP188):c.5109C>T (p.Arg1703=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659570	NM_015354.3(NUP188):c.5215T>C (p.Leu1739=)	LOC130002730, NUP188	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 35