RANBP17[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +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	ADAMTS2, ARL10 +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 condition	GLikely benign
Select item 3046584	NM_022897.5(RANBP17):c.-2A>G	RANBP17	Single nucleotide variant (5 prime UTR variant)	RANBP17-related condition	GLikely benign
Select item 2205086	NM_022897.5(RANBP17):c.10C>T (p.His4Tyr)	RANBP17 (H4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056422	NM_022897.5(RANBP17):c.13T>C (p.Phe5Leu)	RANBP17 (F5L)	Single nucleotide variant (missense variant)	RANBP17-related condition	GBenign
Select item 2360566	NM_022897.5(RANBP17):c.60A>G (p.Ile20Met)	RANBP17 (I20M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462059	NM_022897.5(RANBP17):c.80G>C (p.Arg27Thr)	RANBP17 (R27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051013	NM_022897.5(RANBP17):c.161G>A (p.Gly54Glu)	RANBP17 (G54E)	Single nucleotide variant (missense variant)	RANBP17-related condition	GUncertain significance
Select item 2281148	NM_022897.5(RANBP17):c.251A>G (p.Asp84Gly)	RANBP17 (D84G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052022	NM_022897.5(RANBP17):c.272A>G (p.Asn91Ser)	RANBP17 (N91S)	Single nucleotide variant (missense variant)	RANBP17-related condition	GLikely benign
Select item 2607471	NM_022897.5(RANBP17):c.290C>T (p.Pro97Leu)	RANBP17 (P97L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412184	NM_022897.5(RANBP17):c.301C>A (p.Pro101Thr)	RANBP17 (P101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331300	NM_022897.5(RANBP17):c.422A>G (p.Gln141Arg)	RANBP17 (Q141R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GBenign
Select item 3049366	NM_022897.5(RANBP17):c.547A>T (p.Thr183Ser)	RANBP17 (T183S)	Single nucleotide variant (missense variant)	RANBP17-related condition	GBenign
Select item 2632773	NM_022897.5(RANBP17):c.559G>A (p.Asp187Asn)	RANBP17 (D187N)	Single nucleotide variant (missense variant)	RANBP17-related condition	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)	Inborn genetic diseases	GUncertain significance
Select item 2378976	NM_022897.5(RANBP17):c.896G>T (p.Arg299Leu)	RANBP17 (R299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347118	NM_022897.5(RANBP17):c.950C>G (p.Pro317Arg)	RANBP17 (P317R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555405	NM_022897.5(RANBP17):c.955G>A (p.Gly319Ser)	RANBP17 (G319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236674	NM_022897.5(RANBP17):c.977A>G (p.Tyr326Cys)	RANBP17 (Y326C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313777	NM_022897.5(RANBP17):c.1000G>C (p.Ala334Pro)	RANBP17 (A334P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468959	NM_022897.5(RANBP17):c.1015A>G (p.Asn339Asp)	RANBP17 (N339D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385622	NM_022897.5(RANBP17):c.1016A>G (p.Asn339Ser)	RANBP17 (N339S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278260	NM_022897.5(RANBP17):c.1052A>G (p.Tyr351Cys)	RANBP17 (Y351C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042882	NM_022897.5(RANBP17):c.1057G>C (p.Glu353Gln)	RANBP17 (E353Q)	Single nucleotide variant (missense variant)	RANBP17-related condition	GLikely benign
Select item 2251147	NM_022897.5(RANBP17):c.1160T>C (p.Val387Ala)	RANBP17 (V387A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288985	NM_022897.5(RANBP17):c.1246C>T (p.Arg416Trp)	RANBP17 (R416W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541740	NM_022897.5(RANBP17):c.1247G>T (p.Arg416Leu)	RANBP17 (R416L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590624	NM_022897.5(RANBP17):c.1270G>A (p.Val424Met)	RANBP17 (V424M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510599	NM_022897.5(RANBP17):c.1284A>T (p.Leu428Phe)	RANBP17 (L428F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309701	NM_022897.5(RANBP17):c.1333T>G (p.Leu445Val)	RANBP17 (L445V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356939	NM_022897.5(RANBP17):c.1522A>G (p.Thr508Ala)	RANBP17 (T508A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596229	NM_022897.5(RANBP17):c.1544A>G (p.His515Arg)	RANBP17 (H515R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252274	NM_022897.5(RANBP17):c.1567T>C (p.Ser523Pro)	RANBP17 (S523P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536337	NM_022897.5(RANBP17):c.1589T>C (p.Ile530Thr)	RANBP17 (I530T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615970	NM_022897.5(RANBP17):c.1664A>G (p.Gln555Arg)	RANBP17 (Q555R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395193	NM_022897.5(RANBP17):c.1669C>T (p.Arg557Cys)	RANBP17 (R557C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GBenign
Select item 2529569	NM_022897.5(RANBP17):c.1790C>G (p.Thr597Arg)	RANBP17 (T597R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239999	NM_022897.5(RANBP17):c.1873C>T (p.Leu625Phe)	RANBP17 (L625F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568106	NM_022897.5(RANBP17):c.1910T>G (p.Phe637Cys)	RANBP17 (F637C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057494	NM_022897.5(RANBP17):c.1953C>T (p.Gly651=)	RANBP17	Single nucleotide variant (synonymous variant)	RANBP17-related condition	GLikely benign
Select item 2206120	NM_022897.5(RANBP17):c.2009C>T (p.Ala670Val)	RANBP17 (A670V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530893	NM_022897.5(RANBP17):c.2041G>A (p.Glu681Lys)	RANBP17 (E681K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518276	NM_022897.5(RANBP17):c.2044G>A (p.Asp682Asn)	RANBP17 (D682N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539436	NM_022897.5(RANBP17):c.2046T>A (p.Asp682Glu)	RANBP17 (D682E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055389	NM_022897.5(RANBP17):c.2100A>G (p.Val700=)	RANBP17	Single nucleotide variant (synonymous variant)	RANBP17-related condition	GBenign
Select item 2302469	NM_022897.5(RANBP17):c.2161G>A (p.Ala721Thr)	RANBP17 (A721T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214361	NM_022897.5(RANBP17):c.2212A>G (p.Thr738Ala)	RANBP17 (T738A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217432	NM_022897.5(RANBP17):c.2240C>T (p.Thr747Met)	RANBP17 (T747M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373061	NM_022897.5(RANBP17):c.2273G>A (p.Arg758Gln)	RANBP17 (R758Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596869	NM_022897.5(RANBP17):c.2275T>G (p.Trp759Gly)	RANBP17 (W759G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052894	NM_022897.5(RANBP17):c.2291C>T (p.Thr764Ile)	RANBP17 (T764I)	Single nucleotide variant (missense variant)	RANBP17-related condition	GBenign
Select item 2395622	NM_022897.5(RANBP17):c.2348G>A (p.Arg783His)	RANBP17 (R783H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337217	NM_022897.5(RANBP17):c.2542T>C (p.Phe848Leu)	RANBP17 (F848L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049916	NM_022897.5(RANBP17):c.2555A>C (p.Lys852Thr)	RANBP17 (K852T)	Single nucleotide variant (missense variant)	RANBP17-related condition	GLikely benign
Select item 2335759	NM_022897.5(RANBP17):c.2555A>G (p.Lys852Arg)	RANBP17 (K852R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522378	NM_022897.5(RANBP17):c.2573A>T (p.His858Leu)	RANBP17 (H858L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531724	NM_022897.5(RANBP17):c.2582A>G (p.Asn861Ser)	RANBP17 (N861S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526832	NM_022897.5(RANBP17):c.2675T>C (p.Leu892Pro)	RANBP17 (L892P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2240122	NM_022897.5(RANBP17):c.2818A>G (p.Ile940Val)	RANBP17 (I940V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472314	NM_022897.5(RANBP17):c.2821G>A (p.Val941Ile)	RANBP17 (V941I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508338	NM_022897.5(RANBP17):c.2854G>A (p.Gly952Ser)	RANBP17 (G952S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277701	NM_022897.5(RANBP17):c.2917C>A (p.Gln973Lys)	RANBP17 (Q973K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455189	NM_022897.5(RANBP17):c.2987G>A (p.Arg996Gln)	LOC126807596, RANBP17 (R996Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690583	NM_022897.5(RANBP17):c.2997G>A (p.Trp999Ter)	LOC126807596, RANBP17 (W999*)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 2333642	NM_022897.5(RANBP17):c.3014T>A (p.Leu1005His)	LOC126807596, RANBP17 (L1005H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217167	NM_022897.5(RANBP17):c.3134G>A (p.Gly1045Glu)	RANBP17 (G1045E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367707	NM_022897.5(RANBP17):c.3154G>A (p.Val1052Ile)	RANBP17 (V1052I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214098	NM_022897.5(RANBP17):c.3221G>A (p.Arg1074His)	RANBP17 (R1074H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356230	NM_022897.5(RANBP17):c.3233A>G (p.Asn1078Ser)	RANBP17 (N1078S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 2685183	GRCh37/hg19 5q35.1(chr5:170417259-170695484)x1	RANBP17	Copy number loss	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 687079	GRCh37/hg19 5q35.1(chr5:169923301-170592803)x3	GABRP, KCNIP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 684722	NC_000005.9:g.170591818_170713790dup	RANBP17	Duplication	Congenital hydrocephalus	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441595	GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1	C5orf58, DOCK2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 97