RNF25[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 3155383	NM_022453.3(RNF25):c.1328G>A (p.Arg443Gln)	RNF25 (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314881	NM_022453.3(RNF25):c.1310G>A (p.Arg437Gln)	RNF25 (R437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314882	NM_022453.3(RNF25):c.1255C>T (p.Arg419Cys)	RNF25 (R419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375434	NM_022453.3(RNF25):c.1243C>T (p.Arg415Trp)	RNF25 (R415W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155382	NM_022453.3(RNF25):c.1235G>A (p.Arg412His)	RNF25 (R412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229810	NM_022453.3(RNF25):c.1223G>T (p.Gly408Val)	RNF25 (G408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213452	NM_022453.3(RNF25):c.1207C>A (p.Pro403Thr)	RNF25 (P403T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368058	NM_022453.3(RNF25):c.1124C>T (p.Pro375Leu)	RNF25 (P375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462701	NM_022453.3(RNF25):c.1100G>A (p.Arg367His)	RNF25 (R367H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372784	NM_022453.3(RNF25):c.1099C>T (p.Arg367Cys)	RNF25 (R367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403102	NM_022453.3(RNF25):c.1097C>G (p.Thr366Ser)	RNF25 (T366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510833	NM_022453.3(RNF25):c.1055G>A (p.Arg352Gln)	RNF25 (R352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535870	NM_022453.3(RNF25):c.1054C>G (p.Arg352Gly)	RNF25 (R352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212497	NM_022453.3(RNF25):c.1054C>T (p.Arg352Trp)	RNF25 (R352W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2367152	NM_022453.3(RNF25):c.1019C>A (p.Pro340His)	RNF25 (P340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155390	NM_022453.3(RNF25):c.991G>A (p.Glu331Lys)	RNF25 (E331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155389	NM_022453.3(RNF25):c.920C>T (p.Pro307Leu)	RNF25 (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514747	NM_022453.3(RNF25):c.898G>A (p.Val300Ile)	RNF25 (V300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314883	NM_022453.3(RNF25):c.872C>G (p.Ala291Gly)	RNF25 (A291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155388	NM_022453.3(RNF25):c.815C>T (p.Ala272Val)	RNF25 (A272V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290373	NM_022453.3(RNF25):c.743G>C (p.Arg248Pro)	RNF25 (R248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491982	NM_022453.3(RNF25):c.719G>A (p.Arg240Gln)	RNF25 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223585	NM_022453.3(RNF25):c.712C>T (p.Arg238Cys)	RNF25 (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385359	NM_022453.3(RNF25):c.671T>C (p.Leu224Pro)	RNF25 (L224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155387	NM_022453.3(RNF25):c.595C>A (p.Pro199Thr)	RNF25 (P199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155386	NM_022453.3(RNF25):c.583G>A (p.Gly195Ser)	RNF25 (G195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471722	NM_022453.3(RNF25):c.551G>A (p.Arg184Gln)	RNF25 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337622	NM_022453.3(RNF25):c.458G>A (p.Cys153Tyr)	RNF25 (C153Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155385	NM_022453.3(RNF25):c.454C>T (p.Pro152Ser)	RNF25 (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461280	NM_022453.3(RNF25):c.409A>G (p.Ile137Val)	RNF25 (I137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155384	NM_022453.3(RNF25):c.307C>G (p.His103Asp)	RNF25 (H103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316687	NM_022453.3(RNF25):c.136T>G (p.Tyr46Asp)	RNF25 (Y46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463648	NM_022453.3(RNF25):c.134T>G (p.Ile45Ser)	RNF25 (I45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550421	NM_022453.3(RNF25):c.22G>C (p.Ala8Pro)	LOC129935610, RNF25 (A8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512781	NM_022453.3(RNF25):c.16T>G (p.Ser6Ala)	LOC129935610, RNF25 (S6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536487	NM_022453.3(RNF25):c.11C>G (p.Ser4Cys)	LOC129935610, RNF25 (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393084	NM_022453.3(RNF25):c.10T>A (p.Ser4Thr)	LOC129935610, RNF25 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259546	NM_022453.3(RNF25):c.8C>G (p.Ala3Gly)	LOC129935610, RNF25 (A3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247520	NC_000002.11:g.(?_219524871)_(219679753_?)del	BCS1L, CYP27A1 +3 more	Deletion	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	MIR375, NHEJ1 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67