ClinVar for Gene (Select 54778) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314677	NM_017610.8(RNF111):c.407A>G (p.Asp136Gly)	RNF111 (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314676	NM_017610.8(RNF111):c.1657A>G (p.Ser553Gly)	RNF111 (S553G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314674	NM_017610.8(RNF111):c.1035A>T (p.Arg345Ser)	RNF111 (R345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314673	NM_017610.8(RNF111):c.1075C>G (p.Pro359Ala)	RNF111 (P359A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314672	NM_017610.8(RNF111):c.539G>A (p.Arg180Gln)	RNF111 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314671	NM_017610.8(RNF111):c.1484A>G (p.His495Arg)	RNF111 (H495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314670	NM_017610.8(RNF111):c.1875G>T (p.Met625Ile)	RNF111 (M624I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314669	NM_017610.8(RNF111):c.268G>C (p.Val90Leu)	RNF111 (V90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314668	NM_017610.8(RNF111):c.1013G>A (p.Arg338His)	RNF111 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314667	NM_017610.8(RNF111):c.825A>T (p.Glu275Asp)	RNF111 (E275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314665	NM_017610.8(RNF111):c.2033C>T (p.Pro678Leu)	RNF111 (P678L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239529	NM_017610.8(RNF111):c.1936A>T (p.Met646Leu)	RNF111 (M645L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3154935	NM_017610.8(RNF111):c.976G>A (p.Val326Met)	RNF111 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154934	NM_017610.8(RNF111):c.949A>G (p.Ile317Val)	RNF111 (I317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154933	NM_017610.8(RNF111):c.622C>T (p.Arg208Trp)	RNF111 (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154932	NM_017610.8(RNF111):c.2806A>G (p.Ile936Val)	RNF111 (I935V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154931	NM_017610.8(RNF111):c.2523C>G (p.His841Gln)	RNF111 (H841Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154930	NM_017610.8(RNF111):c.2503G>T (p.Ala835Ser)	RNF111 (A835S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154929	NM_017610.8(RNF111):c.2210C>A (p.Ala737Asp)	RNF111 (A736D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154928	NM_017610.8(RNF111):c.2195C>T (p.Ser732Leu)	RNF111 (S731L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154927	NM_017610.8(RNF111):c.1747C>T (p.His583Tyr)	RNF111 (H583Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154926	NM_017610.8(RNF111):c.1672A>G (p.Ser558Gly)	RNF111 (S558G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154925	NM_017610.8(RNF111):c.1524T>A (p.His508Gln)	RNF111 (H508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154923	NM_017610.8(RNF111):c.1363G>A (p.Gly455Arg)	RNF111 (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154922	NM_017610.8(RNF111):c.1355C>T (p.Thr452Ile)	RNF111 (T452I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154921	NM_017610.8(RNF111):c.1117C>A (p.Gln373Lys)	RNF111 (Q373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154920	NM_017610.8(RNF111):c.1022T>C (p.Leu341Pro)	RNF111 (L341P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154919	NM_017610.8(RNF111):c.1006C>T (p.Arg336Trp)	RNF111 (R336W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2616964	NM_017610.8(RNF111):c.386A>C (p.Asp129Ala)	RNF111 (D129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616320	NM_017610.8(RNF111):c.557G>A (p.Arg186Gln)	RNF111 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615909	NM_017610.8(RNF111):c.532A>G (p.Ser178Gly)	RNF111 (S178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606886	NM_017610.8(RNF111):c.192C>A (p.Phe64Leu)	RNF111 (F64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595589	NM_017610.8(RNF111):c.571T>G (p.Ser191Ala)	RNF111 (S191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592077	NM_017610.8(RNF111):c.2762A>G (p.Asp921Gly)	RNF111 (D929G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557142	NM_017610.8(RNF111):c.2385G>A (p.Met795Ile)	RNF111 (M804I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552993	NM_017610.8(RNF111):c.901G>T (p.Val301Leu)	RNF111 (V301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547324	NM_017610.8(RNF111):c.761G>A (p.Ser254Asn)	RNF111 (S254N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543858	NM_017610.8(RNF111):c.347T>C (p.Leu116Ser)	RNF111 (L116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543288	NM_017610.8(RNF111):c.1432C>T (p.Pro478Ser)	RNF111 (P478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543046	NM_017610.8(RNF111):c.1428G>T (p.Arg476Ser)	RNF111 (R476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537655	NM_017610.8(RNF111):c.1915C>T (p.Leu639Phe)	RNF111 (L638F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536223	NM_017610.8(RNF111):c.692G>A (p.Arg231Lys)	RNF111 (R231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536222	NM_017610.8(RNF111):c.1831C>G (p.Pro611Ala)	RNF111 (P611A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535013	NM_017610.8(RNF111):c.1384A>G (p.Thr462Ala)	RNF111 (T462A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510059	NM_017610.8(RNF111):c.1841C>A (p.Pro614His)	RNF111 (P613H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485353	NM_017610.8(RNF111):c.1667G>C (p.Gly556Ala)	RNF111 (G556A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411995	NM_017610.8(RNF111):c.1823C>T (p.Ala608Val)	RNF111 (A607V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401765	NM_017610.8(RNF111):c.1891C>T (p.Pro631Ser)	RNF111 (P631S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400794	NM_017610.8(RNF111):c.1483C>A (p.His495Asn)	RNF111 (H495N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398382	NM_017610.8(RNF111):c.2122C>T (p.Pro708Ser)	RNF111 (P707S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377194	NM_017610.8(RNF111):c.140A>G (p.Lys47Arg)	RNF111 (K47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363550	NM_017610.8(RNF111):c.1819G>A (p.Ala607Thr)	RNF111 (A606T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354591	NM_017610.8(RNF111):c.2044G>A (p.Asp682Asn)	RNF111 (D682N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347698	NM_017610.8(RNF111):c.828T>G (p.Asp276Glu)	RNF111 (D276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343313	NM_017610.8(RNF111):c.1667G>T (p.Gly556Val)	RNF111 (G556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341620	NM_017610.8(RNF111):c.844A>C (p.Ser282Arg)	RNF111 (S282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339372	NM_017610.8(RNF111):c.2818A>G (p.Ile940Val)	RNF111 (I949V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326788	NM_017610.8(RNF111):c.608A>G (p.His203Arg)	RNF111 (H203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321199	NM_017610.8(RNF111):c.1562C>T (p.Thr521Ile)	RNF111 (T521I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307414	NM_017610.8(RNF111):c.1072C>T (p.Arg358Trp)	RNF111 (R358W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302960	NM_017610.8(RNF111):c.2008A>G (p.Asn670Asp)	RNF111 (N669D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295638	NM_017610.8(RNF111):c.2681A>G (p.Asn894Ser)	RNF111 (N893S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274974	NM_017610.8(RNF111):c.23A>G (p.Tyr8Cys)	RNF111 (Y8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266024	NM_017610.8(RNF111):c.1795G>A (p.Ala599Thr)	RNF111 (A598T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265939	NM_017610.8(RNF111):c.731G>A (p.Arg244Gln)	RNF111 (R244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256085	NM_017610.8(RNF111):c.985G>T (p.Val329Leu)	RNF111 (V329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252449	NM_017610.8(RNF111):c.716G>A (p.Arg239Gln)	RNF111 (R239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252180	NM_017610.8(RNF111):c.1904C>T (p.Pro635Leu)	RNF111 (P635L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250642	NM_017610.8(RNF111):c.2473G>A (p.Ala825Thr)	RNF111 (A825T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240840	NM_017610.8(RNF111):c.1177A>C (p.Thr393Pro)	RNF111 (T393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227017	NM_017610.8(RNF111):c.1834A>G (p.Ser612Gly)	RNF111 (S611G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526464	GRCh37/hg19 15q22.2(chr15:59384216-59530214)	CCNB2, LDHAL6B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 788710	NM_017610.8(RNF111):c.1303T>A (p.Ser435Thr)	RNF111 (S435T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 89