RUFY3[gene] - ClinVar

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

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 57860	GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3	AMBN, AMTN +30 more	Copy number gain	See cases	GUncertain significance
Select item 155363	GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3	AMBN, AMTN +26 more	Copy number gain	See cases	GUncertain significance
Select item 57861	GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3	DCK, GC +23 more	Copy number gain	See cases	GUncertain significance
Select item 2248325	NM_001130709.2(RUFY3):c.109G>C (p.Gly37Arg)	RUFY3 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404487	NM_001130709.2(RUFY3):c.139C>T (p.Pro47Ser)	RUFY3 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254040	NM_001130709.2(RUFY3):c.283C>T (p.Pro95Ser)	RUFY3 (P95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57862	GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3	DCK, GC +21 more	Copy number gain	See cases	GUncertain significance
Select item 720185	NM_001037442.4(RUFY3):c.179-4G>T	RUFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2278329	NM_001037442.4(RUFY3):c.202G>A (p.Glu68Lys)	RUFY3 (E86K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157162	NM_001037442.4(RUFY3):c.218T>C (p.Met73Thr)	RUFY3 (M133T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276748	NM_001037442.4(RUFY3):c.406G>A (p.Val136Ile)	RUFY3 (V154I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735511	NM_001037442.4(RUFY3):c.429C>T (p.Ala143=)	RUFY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2273535	NM_001037442.4(RUFY3):c.430G>A (p.Ala144Thr)	RUFY3 (A91T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319092	NM_001037442.4(RUFY3):c.544G>A (p.Ala182Thr)	RUFY3 (A200T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720186	NM_001037442.4(RUFY3):c.758+9A>G	RUFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224148	NM_001037442.4(RUFY3):c.764dup (p.Gln256fs)	RUFY3 (Q316fs +3 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 3157163	NM_001037442.4(RUFY3):c.772A>G (p.Thr258Ala)	RUFY3 (T258A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157164	NM_001037442.4(RUFY3):c.939G>A (p.Met313Ile)	RUFY3 (M373I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157165	NM_001037442.4(RUFY3):c.943C>G (p.Arg315Gly)	RUFY3 (R333G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215663	NM_001037442.4(RUFY3):c.944G>A (p.Arg315Gln)	RUFY3 (R262Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157166	NM_001037442.4(RUFY3):c.969A>G (p.Ile323Met)	RUFY3 (I270M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157167	NM_001037442.4(RUFY3):c.983G>A (p.Arg328Gln)	RUFY3 (R328Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403697	NM_001037442.4(RUFY3):c.1067G>A (p.Arg356Gln)	RUFY3 (R303Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590592	NM_001037442.4(RUFY3):c.1129A>G (p.Met377Val)	RUFY3 (M395V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303873	NM_001037442.4(RUFY3):c.1183C>T (p.Arg395Trp)	RUFY3 (R395W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404867	NM_001037442.4(RUFY3):c.1217A>G (p.His406Arg)	RUFY3 (H353R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469802	NM_001037442.4(RUFY3):c.1318A>G (p.Ile440Val)	RUFY3 (I458V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466147	NM_001037442.4(RUFY3):c.1343G>A (p.Arg448His)	RUFY3 (R395H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464219	NM_001037442.4(RUFY3):c.1346A>G (p.Gln449Arg)	RUFY3 (Q449R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315782	NM_001037442.4(RUFY3):c.1367C>T (p.Ser456Phe)	RUFY3 (S403F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157154	NM_001037442.4(RUFY3):c.1378G>A (p.Asp460Asn)	RUFY3 (D460N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519471	NM_001037442.4(RUFY3):c.1382A>G (p.Asn461Ser)	RUFY3 (N461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385844	NM_001037442.4(RUFY3):c.1384C>T (p.Arg462Trp)	RUFY3 (R462W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411891	NM_001037442.4(RUFY3):c.1484A>G (p.Gln495Arg)	RUFY3 (Q495R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477648	NM_001037442.4(RUFY3):c.1507A>C (p.Asn503His)	RUFY3 (N503H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157155	NM_001037442.4(RUFY3):c.1517G>A (p.Ser506Asn)	RUFY3 (S506N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315781	NM_001037442.4(RUFY3):c.1522C>T (p.Pro508Ser)	RUFY3 (P455S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315780	NM_001037442.4(RUFY3):c.1531G>C (p.Gly511Arg)	RUFY3 (G458R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530696	NM_001037442.4(RUFY3):c.1531G>A (p.Gly511Ser)	RUFY3 (G458S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157156	NM_001037442.4(RUFY3):c.1554G>T (p.Lys518Asn)	RUFY3 (K518N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157158	NM_001037442.4(RUFY3):c.1679A>G (p.Gln560Arg)	RUFY3 (Q560R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315779	NM_001037442.4(RUFY3):c.1685G>T (p.Cys562Phe)	RUFY3 (C509F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334330	NM_001037442.4(RUFY3):c.1709G>C (p.Ser570Thr)	RUFY3 (S570T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315778	NM_001037442.4(RUFY3):c.1747T>G (p.Phe583Val)	RUFY3 (F530V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157159	NM_001037442.4(RUFY3):c.1798C>T (p.Leu600Phe)	RUFY3 (L547F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791978	NM_001037442.4(RUFY3):c.1805G>A (p.Arg602Gln)	RUFY3 (R549Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2470646	NM_001037442.4(RUFY3):c.1816C>A (p.Pro606Thr)	RUFY3 (P606T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157160	NM_001037442.4(RUFY3):c.1824C>A (p.His608Gln)	RUFY3 (H555Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408994	NM_001037442.4(RUFY3):c.1831C>G (p.Leu611Val)	RUFY3 (L558V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157161	NM_001037442.4(RUFY3):c.1849A>C (p.Thr617Pro)	RUFY3 (T617P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062769	GRCh37/hg19 4q13.3(chr4:71132998-72479262)x3	AMBN, AMTN +13 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685972	GRCh37/hg19 4q13.3(chr4:71388666-72250823)x3	GRSF1, AMBN +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685115	GRCh37/hg19 4q13.3(chr4:71547866-71636209)x1	RUFY3, UTP3	Copy number loss	not provided	GUncertain significance
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1808219	GRCh37/hg19 4q13.3(chr4:71643631-71975779)x3	DCK, GRSF1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1340067	GRCh37/hg19 4q13.3(chr4:71561781-72059983)x3	DCK, GRSF1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814565	GRCh37/hg19 4q13.3(chr4:71193683-71591539)x3	OPRPN, ENAM +9 more	Copy number gain	not provided	GUncertain significance
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 688874	GRCh37/hg19 4q13.3(chr4:70929700-72479262)x3	AMBN, AMTN +17 more	Copy number gain	not provided	GUncertain significance
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562930	GRCh37/hg19 4q13.3(chr4:71579922-71666101)x1	RUFY3	Copy number loss	not provided	GUncertain significance
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 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: 79