RANBP17[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 148246	GRCh38/hg38 5q35.1(chr5:170226622-171028731)x3	C5orf58, GABRP +22 more	Copy number gain	See cases	GLikely benign
Select item 3041809	NM_022897.5(RANBP17):c.-9C>A	RANBP17	Single nucleotide variant (5 prime UTR variant)	RANBP17-related disorder	GLikely benign
Select item 3046584	NM_022897.5(RANBP17):c.-2A>G	RANBP17	Single nucleotide variant (5 prime UTR variant)	RANBP17-related disorder	GLikely benign
Select item 2205086	NM_022897.5(RANBP17):c.10C>T (p.His4Tyr)	RANBP17 (H4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056422	NM_022897.5(RANBP17):c.13T>C (p.Phe5Leu)	RANBP17 (F5L)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GBenign
Select item 3312672	NM_022897.5(RANBP17):c.19A>G (p.Ser7Gly)	RANBP17 (S7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360566	NM_022897.5(RANBP17):c.60A>G (p.Ile20Met)	RANBP17 (I20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462059	NM_022897.5(RANBP17):c.80G>C (p.Arg27Thr)	RANBP17 (R27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051013	NM_022897.5(RANBP17):c.161G>A (p.Gly54Glu)	RANBP17 (G54E)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GUncertain significance
Select item 3312673	NM_022897.5(RANBP17):c.173A>G (p.Tyr58Cys)	RANBP17 (Y58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281148	NM_022897.5(RANBP17):c.251A>G (p.Asp84Gly)	RANBP17 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052022	NM_022897.5(RANBP17):c.272A>G (p.Asn91Ser)	RANBP17 (N91S)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GLikely benign
Select item 2607471	NM_022897.5(RANBP17):c.290C>T (p.Pro97Leu)	RANBP17 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412184	NM_022897.5(RANBP17):c.301C>A (p.Pro101Thr)	RANBP17 (P101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331300	NM_022897.5(RANBP17):c.422A>G (p.Gln141Arg)	RANBP17 (Q141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151386	NM_022897.5(RANBP17):c.425G>A (p.Gly142Asp)	RANBP17 (G142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656071	NM_022897.5(RANBP17):c.506C>G (p.Pro169Arg)	RANBP17 (P169R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3044902	NM_022897.5(RANBP17):c.529G>A (p.Ala177Thr)	RANBP17 (A177T)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GBenign
Select item 3049366	NM_022897.5(RANBP17):c.547A>T (p.Thr183Ser)	RANBP17 (T183S)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GBenign
Select item 2632773	NM_022897.5(RANBP17):c.559G>A (p.Asp187Asn)	RANBP17 (D187N)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GUncertain significance
Select item 3151387	NM_022897.5(RANBP17):c.580T>G (p.Ser194Ala)	RANBP17 (S194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151388	NM_022897.5(RANBP17):c.589A>G (p.Lys197Glu)	RANBP17 (K197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151389	NM_022897.5(RANBP17):c.626A>G (p.Gln209Arg)	RANBP17 (Q209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656072	NM_022897.5(RANBP17):c.692T>C (p.Ile231Thr)	RANBP17 (I231T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2467183	NM_022897.5(RANBP17):c.731C>T (p.Thr244Met)	RANBP17 (T244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378976	NM_022897.5(RANBP17):c.896G>T (p.Arg299Leu)	RANBP17 (R299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151390	NM_022897.5(RANBP17):c.919A>G (p.Ile307Val)	RANBP17 (I307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347118	NM_022897.5(RANBP17):c.950C>G (p.Pro317Arg)	RANBP17 (P317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555405	NM_022897.5(RANBP17):c.955G>A (p.Gly319Ser)	RANBP17 (G319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236674	NM_022897.5(RANBP17):c.977A>G (p.Tyr326Cys)	RANBP17 (Y326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313777	NM_022897.5(RANBP17):c.1000G>C (p.Ala334Pro)	RANBP17 (A334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468959	NM_022897.5(RANBP17):c.1015A>G (p.Asn339Asp)	RANBP17 (N339D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385622	NM_022897.5(RANBP17):c.1016A>G (p.Asn339Ser)	RANBP17 (N339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278260	NM_022897.5(RANBP17):c.1052A>G (p.Tyr351Cys)	RANBP17 (Y351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042882	NM_022897.5(RANBP17):c.1057G>C (p.Glu353Gln)	RANBP17 (E353Q)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GLikely benign
Select item 2251147	NM_022897.5(RANBP17):c.1160T>C (p.Val387Ala)	RANBP17 (V387A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312665	NM_022897.5(RANBP17):c.1241C>T (p.Thr414Ile)	RANBP17 (T414I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288985	NM_022897.5(RANBP17):c.1246C>T (p.Arg416Trp)	RANBP17 (R416W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541740	NM_022897.5(RANBP17):c.1247G>T (p.Arg416Leu)	RANBP17 (R416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590624	NM_022897.5(RANBP17):c.1270G>A (p.Val424Met)	RANBP17 (V424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510599	NM_022897.5(RANBP17):c.1284A>T (p.Leu428Phe)	RANBP17 (L428F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309701	NM_022897.5(RANBP17):c.1333T>G (p.Leu445Val)	RANBP17 (L445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151369	NM_022897.5(RANBP17):c.1340C>T (p.Thr447Met)	RANBP17 (T447M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151370	NM_022897.5(RANBP17):c.1378C>T (p.Leu460Phe)	RANBP17 (L460F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151371	NM_022897.5(RANBP17):c.1462C>G (p.Gln488Glu)	RANBP17 (Q488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356939	NM_022897.5(RANBP17):c.1522A>G (p.Thr508Ala)	RANBP17 (T508A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596229	NM_022897.5(RANBP17):c.1544A>G (p.His515Arg)	RANBP17 (H515R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252274	NM_022897.5(RANBP17):c.1567T>C (p.Ser523Pro)	RANBP17 (S523P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536337	NM_022897.5(RANBP17):c.1589T>C (p.Ile530Thr)	RANBP17 (I530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312669	NM_022897.5(RANBP17):c.1649T>C (p.Leu550Pro)	RANBP17 (L550P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615970	NM_022897.5(RANBP17):c.1664A>G (p.Gln555Arg)	RANBP17 (Q555R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395193	NM_022897.5(RANBP17):c.1669C>T (p.Arg557Cys)	RANBP17 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342353	NM_022897.5(RANBP17):c.1710+75929A>G	LOC110120747, RANBP17	Single nucleotide variant (intron variant)	Autism spectrum disorder	GUncertain significance
Select item 3055722	NM_022897.5(RANBP17):c.1767G>A (p.Glu589=)	RANBP17	Single nucleotide variant (synonymous variant)	RANBP17-related disorder	GBenign
Select item 2529569	NM_022897.5(RANBP17):c.1790C>G (p.Thr597Arg)	RANBP17 (T597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239999	NM_022897.5(RANBP17):c.1873C>T (p.Leu625Phe)	RANBP17 (L625F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568106	NM_022897.5(RANBP17):c.1910T>G (p.Phe637Cys)	RANBP17 (F637C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312668	NM_022897.5(RANBP17):c.1928C>T (p.Thr643Met)	RANBP17 (T643M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057494	NM_022897.5(RANBP17):c.1953C>T (p.Gly651=)	RANBP17	Single nucleotide variant (synonymous variant)	RANBP17-related disorder	GLikely benign
Select item 2206120	NM_022897.5(RANBP17):c.2009C>T (p.Ala670Val)	RANBP17 (A670V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530893	NM_022897.5(RANBP17):c.2041G>A (p.Glu681Lys)	RANBP17 (E681K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518276	NM_022897.5(RANBP17):c.2044G>A (p.Asp682Asn)	RANBP17 (D682N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539436	NM_022897.5(RANBP17):c.2046T>A (p.Asp682Glu)	RANBP17 (D682E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151372	NM_022897.5(RANBP17):c.2063A>C (p.Asn688Thr)	RANBP17 (N688T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055389	NM_022897.5(RANBP17):c.2100A>G (p.Val700=)	RANBP17	Single nucleotide variant (synonymous variant)	RANBP17-related disorder	GBenign
Select item 2302469	NM_022897.5(RANBP17):c.2161G>A (p.Ala721Thr)	RANBP17 (A721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151373	NM_022897.5(RANBP17):c.2168A>C (p.Asp723Ala)	RANBP17 (D723A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312666	NM_022897.5(RANBP17):c.2174G>A (p.Arg725Gln)	RANBP17 (R725Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151374	NM_022897.5(RANBP17):c.2176G>C (p.Gly726Arg)	RANBP17 (G726R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214361	NM_022897.5(RANBP17):c.2212A>G (p.Thr738Ala)	RANBP17 (T738A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312671	NM_022897.5(RANBP17):c.2221T>C (p.Phe741Leu)	RANBP17 (F741L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312674	NM_022897.5(RANBP17):c.2239A>G (p.Thr747Ala)	RANBP17 (T747A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217432	NM_022897.5(RANBP17):c.2240C>T (p.Thr747Met)	RANBP17 (T747M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373061	NM_022897.5(RANBP17):c.2273G>A (p.Arg758Gln)	RANBP17 (R758Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596869	NM_022897.5(RANBP17):c.2275T>G (p.Trp759Gly)	RANBP17 (W759G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052894	NM_022897.5(RANBP17):c.2291C>T (p.Thr764Ile)	RANBP17 (T764I)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GBenign
Select item 3312667	NM_022897.5(RANBP17):c.2319G>A (p.Met773Ile)	RANBP17 (M773I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151375	NM_022897.5(RANBP17):c.2329A>G (p.Met777Val)	RANBP17 (M777V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395622	NM_022897.5(RANBP17):c.2348G>A (p.Arg783His)	RANBP17 (R783H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337217	NM_022897.5(RANBP17):c.2542T>C (p.Phe848Leu)	RANBP17 (F848L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049916	NM_022897.5(RANBP17):c.2555A>C (p.Lys852Thr)	RANBP17 (K852T)	Single nucleotide variant (missense variant)	RANBP17-related disorder	GLikely benign
Select item 2335759	NM_022897.5(RANBP17):c.2555A>G (p.Lys852Arg)	RANBP17 (K852R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312670	NM_022897.5(RANBP17):c.2573A>G (p.His858Arg)	RANBP17 (H858R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522378	NM_022897.5(RANBP17):c.2573A>T (p.His858Leu)	RANBP17 (H858L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531724	NM_022897.5(RANBP17):c.2582A>G (p.Asn861Ser)	RANBP17 (N861S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151377	NM_022897.5(RANBP17):c.2669C>G (p.Pro890Arg)	RANBP17 (P890R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526832	NM_022897.5(RANBP17):c.2675T>C (p.Leu892Pro)	RANBP17 (L892P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151378	NM_022897.5(RANBP17):c.2684T>C (p.Leu895Pro)	RANBP17 (L895P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151379	NM_022897.5(RANBP17):c.2719G>A (p.Glu907Lys)	RANBP17 (E907K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151380	NM_022897.5(RANBP17):c.2755T>C (p.Ser919Pro)	RANBP17 (S919P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656073	NM_022897.5(RANBP17):c.2777-6G>A	RANBP17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3151381	NM_022897.5(RANBP17):c.2810T>C (p.Leu937Ser)	RANBP17 (L937S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240122	NM_022897.5(RANBP17):c.2818A>G (p.Ile940Val)	RANBP17 (I940V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472314	NM_022897.5(RANBP17):c.2821G>A (p.Val941Ile)	RANBP17 (V941I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508338	NM_022897.5(RANBP17):c.2854G>A (p.Gly952Ser)	RANBP17 (G952S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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