"Ambry Genetics"[submitter] AND "NUP155"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623325	NM_153485.3(NUP155):c.4031G>A (p.Cys1344Tyr)	NUP155 (C1280Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256227	NM_153485.3(NUP155):c.3918G>T (p.Leu1306Phe)	NUP155 (L1242F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472868	NM_153485.3(NUP155):c.3865A>G (p.Met1289Val)	NUP155 (M1289V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613840	NM_153485.3(NUP155):c.3707G>A (p.Ser1236Asn)	NUP155 (S1172N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270096	NM_153485.3(NUP155):c.3656C>T (p.Thr1219Ile)	NUP155 (T1219I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607633	NM_153485.3(NUP155):c.3641C>T (p.Pro1214Leu)	NUP155 (P1155L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251494	NM_153485.3(NUP155):c.3416A>G (p.Glu1139Gly)	NUP155 (E1080G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406073	NM_153485.3(NUP155):c.3227G>A (p.Arg1076His)	NUP155 (R1012H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518206	NM_153485.3(NUP155):c.3175T>C (p.Phe1059Leu)	NUP155 (F1000L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275324	NM_153485.3(NUP155):c.3136G>C (p.Val1046Leu)	NUP155 (V1046L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342822	NM_153485.3(NUP155):c.3132A>G (p.Ile1044Met)	NUP155 (I1044M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548130	NM_153485.3(NUP155):c.3130A>T (p.Ile1044Leu)	NUP155 (I985L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336417	NM_153485.3(NUP155):c.2905T>A (p.Leu969Ile)	NUP155 (L905I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270335	NM_153485.3(NUP155):c.2890G>T (p.Ala964Ser)	NUP155 (A964S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379508	NM_153485.3(NUP155):c.2728C>G (p.Gln910Glu)	NUP155 (Q851E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256663	NM_153485.3(NUP155):c.2705A>C (p.Lys902Thr)	NUP155 (K838T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397681	NM_153485.3(NUP155):c.2669A>G (p.Lys890Arg)	NUP155 (K826R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299441	NM_153485.3(NUP155):c.2651C>G (p.Ser884Cys)	NUP155 (S884C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344476	NM_153485.3(NUP155):c.2617A>G (p.Ile873Val)	NUP155 (I814V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2614216	NM_153485.3(NUP155):c.2576T>C (p.Leu859Ser)	NUP155 (L859S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594030	NM_153485.3(NUP155):c.2521C>T (p.Leu841Phe)	NUP155 (L841F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277007	NM_153485.3(NUP155):c.2474A>T (p.Asp825Val)	NUP155 (D766V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298426	NM_153485.3(NUP155):c.2419G>A (p.Val807Met)	NUP155 (V748M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551125	NM_153485.3(NUP155):c.2278C>G (p.Gln760Glu)	NUP155 (Q760E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376048	NM_153485.3(NUP155):c.2177A>G (p.Gln726Arg)	NUP155 (Q667R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597152	NM_153485.3(NUP155):c.2015G>A (p.Arg672Gln)	NUP155 (R613Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524370	NM_153485.3(NUP155):c.1888C>T (p.Pro630Ser)	NUP155 (P571S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488383	NM_153485.3(NUP155):c.1769C>T (p.Pro590Leu)	NUP155 (P531L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335861	NM_153485.3(NUP155):c.1363G>A (p.Asp455Asn)	NUP155 (D455N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616624	NM_153485.3(NUP155):c.1343C>T (p.Thr448Ile)	NUP155 (T389I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244431	NM_153485.3(NUP155):c.1160T>C (p.Leu387Pro)	NUP155 (L387P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273971	NM_153485.3(NUP155):c.1157C>A (p.Thr386Lys)	NUP155 (T386K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615073	NM_153485.3(NUP155):c.1081G>A (p.Val361Ile)	NUP155 (V361I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454507	NM_153485.3(NUP155):c.1006C>G (p.Arg336Gly)	NUP155 (R336G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299623	NM_153485.3(NUP155):c.947C>G (p.Ala316Gly)	NUP155 (A257G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295976	NM_153485.3(NUP155):c.891A>C (p.Lys297Asn)	NUP155 (K238N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512183	NM_153485.3(NUP155):c.592A>G (p.Met198Val)	NUP155 (M198V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353665	NM_153485.3(NUP155):c.466A>G (p.Ile156Val)	NUP155 (I97V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508998	NM_153485.3(NUP155):c.169G>A (p.Val57Ile)	NUP155 (V57I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 39