RANBP3L[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 2785882	NM_145000.5(RANBP3L):c.*1004A>C	RANBP3L (L492F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2611771	NM_145000.5(RANBP3L):c.1382C>T (p.Ser461Leu)	RANBP3L (S437L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151429	NM_145000.5(RANBP3L):c.1314G>C (p.Glu438Asp)	RANBP3L (E418D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151428	NM_145000.5(RANBP3L):c.1256A>G (p.Asn419Ser)	RANBP3L (N395S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243118	NM_145000.5(RANBP3L):c.1141T>C (p.Tyr381His)	RANBP3L (Y406H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255251	NM_145000.5(RANBP3L):c.1133T>C (p.Leu378Ser)	RANBP3L (L403S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151426	NM_145000.5(RANBP3L):c.1097C>A (p.Ala366Glu)	RANBP3L (A371E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602417	NM_145000.5(RANBP3L):c.1034A>G (p.Asn345Ser)	RANBP3L (N325S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278327	NM_145000.5(RANBP3L):c.1003G>A (p.Gly335Arg)	RANBP3L (G360R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151425	NM_145000.5(RANBP3L):c.995C>T (p.Thr332Ile)	RANBP3L (T308I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297862	NM_145000.5(RANBP3L):c.968C>T (p.Thr323Met)	RANBP3L (T303M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151435	NM_145000.5(RANBP3L):c.860T>C (p.Ile287Thr)	RANBP3L (I287T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151434	NM_145000.5(RANBP3L):c.845G>A (p.Cys282Tyr)	RANBP3L (C307Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530980	NM_145000.5(RANBP3L):c.707A>T (p.Asp236Val)	RANBP3L (D241V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262630	NM_145000.5(RANBP3L):c.619A>G (p.Ser207Gly)	RANBP3L (S187G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151433	NM_145000.5(RANBP3L):c.601G>A (p.Asp201Asn)	RANBP3L (D226N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151432	NM_145000.5(RANBP3L):c.557A>G (p.Gln186Arg)	RANBP3L (Q191R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284957	NM_145000.5(RANBP3L):c.538G>A (p.Val180Ile)	RANBP3L (V180I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151431	NM_145000.5(RANBP3L):c.485C>T (p.Ser162Phe)	RANBP3L (S167F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151430	NM_145000.5(RANBP3L):c.221G>A (p.Arg74Gln)	RANBP3L (R74Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312703	NM_145000.5(RANBP3L):c.220C>T (p.Arg74Trp)	RANBP3L (R74W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534913	NM_145000.5(RANBP3L):c.205C>T (p.Pro69Ser)	RANBP3L (P69S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589641	NM_145000.5(RANBP3L):c.115A>G (p.Ile39Val)	RANBP3L (I39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298008	NM_145000.5(RANBP3L):c.101T>C (p.Val34Ala)	RANBP3L (V34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401674	NM_145000.5(RANBP3L):c.79C>T (p.Arg27Trp)	RANBP3L (R27W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351395	NM_145000.5(RANBP3L):c.52A>G (p.Thr18Ala)	RANBP3L (T18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562577	NM_145000.5(RANBP3L):c.44G>A (p.Ser15Asn)	RANBP3L (S15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331031	NM_145000.5(RANBP3L):c.40G>A (p.Gly14Ser)	RANBP3L (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274149	NM_145000.5(RANBP3L):c.34C>G (p.Leu12Val)	RANBP3L (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 50