RANBP10[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2469744	NM_020850.3(RANBP10):c.1736C>T (p.Ser579Phe)	RANBP10 (S350F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539483	NM_020850.3(RANBP10):c.1646C>T (p.Ser549Leu)	RANBP10 (S320L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589270	NM_020850.3(RANBP10):c.1585T>C (p.Tyr529His)	RANBP10 (Y442H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537654	NM_020850.3(RANBP10):c.1579C>T (p.Arg527Trp)	RANBP10 (R501W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151366	NM_020850.3(RANBP10):c.1504G>A (p.Gly502Arg)	RANBP10 (G532R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151364	NM_020850.3(RANBP10):c.1493G>A (p.Arg498Gln)	RANBP10 (R498Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151363	NM_020850.3(RANBP10):c.1353C>T (p.Ser451=)	RANBP10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2363856	NM_020850.3(RANBP10):c.1304A>T (p.Asp435Val)	RANBP10 (D379V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251898	NM_020850.3(RANBP10):c.1267C>A (p.Pro423Thr)	RANBP10 (P367T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646637	NM_020850.3(RANBP10):c.1239G>C (p.Ser413=)	RANBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689677	NM_020850.3(RANBP10):c.1180G>A (p.Ala394Thr)	RANBP10 (A277T +3 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 2546882	NM_020850.3(RANBP10):c.1108C>T (p.Pro370Ser)	RANBP10 (P314S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619205	NM_020850.3(RANBP10):c.1072T>C (p.Ser358Pro)	RANBP10 (S129P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312664	NM_020850.3(RANBP10):c.1064G>A (p.Ser355Asn)	RANBP10 (S299N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400402	NM_020850.3(RANBP10):c.1061G>A (p.Arg354Gln)	RANBP10 (R237Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151362	NM_020850.3(RANBP10):c.1058C>T (p.Ser353Phe)	RANBP10 (S124F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401422	NM_020850.3(RANBP10):c.1049G>A (p.Ser350Asn)	RANBP10 (S121N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151361	NM_020850.3(RANBP10):c.1046G>A (p.Arg349Gln)	RANBP10 (R349Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779167	NM_020850.3(RANBP10):c.1032G>A (p.Thr344=)	RANBP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2466249	NM_020850.3(RANBP10):c.1031C>T (p.Thr344Met)	RANBP10 (T227M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344488	NM_020850.3(RANBP10):c.947G>A (p.Arg316His)	RANBP10 (R199H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607252	NM_020850.3(RANBP10):c.916C>T (p.Arg306Cys)	RANBP10 (R306C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463870	NM_020850.3(RANBP10):c.868G>T (p.Ala290Ser)	RANBP10 (A173S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513529	NM_020850.3(RANBP10):c.848C>G (p.Thr283Ser)	RANBP10 (T283S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151368	NM_020850.3(RANBP10):c.796G>A (p.Val266Met)	RANBP10 (V266M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405382	NM_020850.3(RANBP10):c.745C>T (p.Arg249Trp)	RANBP10 (R132W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226962	NM_020850.3(RANBP10):c.713A>G (p.Gln238Arg)	RANBP10 (Q121R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151367	NM_020850.3(RANBP10):c.676A>G (p.Ile226Val)	RANBP10 (I109V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492257	NM_020850.3(RANBP10):c.659A>G (p.Gln220Arg)	RANBP10 (Q164R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490414	NM_020850.3(RANBP10):c.593C>T (p.Ala198Val)	RANBP10 (A142V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312663	NM_020850.3(RANBP10):c.590C>T (p.Pro197Leu)	RANBP10 (P80L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302171	NM_020850.3(RANBP10):c.547A>G (p.Thr183Ala)	RANBP10 (T183A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2646638	NM_020850.3(RANBP10):c.522C>T (p.Asn174=)	RANBP10	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2533939	NM_020850.3(RANBP10):c.443A>T (p.His148Leu)	RANBP10 (H31L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265447	NM_020850.3(RANBP10):c.383A>G (p.Asn128Ser)	RANBP10 (N128S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527907	NM_020850.3(RANBP10):c.226C>T (p.His76Tyr)	RANBP10 (H76Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 770255	NM_020850.3(RANBP10):c.174C>T (p.Ser58=)	RANBP10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2373832	NM_020850.3(RANBP10):c.83C>G (p.Pro28Arg)	RANBP10 (P28R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2272022	NM_020850.3(RANBP10):c.49G>A (p.Asp17Asn)	RANBP10 (D17N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2408114	NM_020850.3(RANBP10):c.23C>T (p.Pro8Leu)	RANBP10 (P8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3151365	NM_020850.3(RANBP10):c.14C>T (p.Thr5Met)	RANBP10 (T5M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3312662	NM_020850.3(RANBP10):c.13A>G (p.Thr5Ala)	RANBP10 (T5A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 992641	Single allele	C16orf86, CARMIL2 +6 more	Deletion	Chromosome 16q22 deletion syndrome	GPathogenic
Select item 980684	GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1	TSNAXIP1, PSMB10 +15 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564336	GRCh37/hg19 16q22.1(chr16:67629575-67812055)x1	ENKD1, RANBP10 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 77