RICTOR[gene] - ClinVar

Search results

Items: 88

	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 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 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 3314292	NM_152756.5(RICTOR):c.4807G>A (p.Asp1603Asn)	OSMR, RICTOR (D1627N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512735	NM_152756.5(RICTOR):c.4712C>T (p.Ser1571Leu)	OSMR, RICTOR (S1571L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025361	NM_152756.5(RICTOR):c.4611G>T (p.Leu1537=)	OSMR, RICTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3154234	NM_152756.5(RICTOR):c.4600A>T (p.Ser1534Cys)	OSMR, RICTOR (S1534C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154233	NM_152756.5(RICTOR):c.4408T>C (p.Ser1470Pro)	RICTOR (S1494P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398361	NM_152756.5(RICTOR):c.4361A>G (p.Asp1454Gly)	RICTOR (D1169G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 521034	NM_152756.5(RICTOR):c.4346del (p.Asn1449fs)	RICTOR (N1164fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2568565	NM_152756.5(RICTOR):c.4325T>G (p.Ile1442Ser)	RICTOR (I1157S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257868	NM_152756.5(RICTOR):c.4307T>C (p.Ile1436Thr)	RICTOR (I1151T +2 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3154232	NM_152756.5(RICTOR):c.4229G>C (p.Arg1410Pro)	RICTOR (R1125P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314286	NM_152756.5(RICTOR):c.4141A>C (p.Met1381Leu)	RICTOR (M1381L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234169	NM_152756.5(RICTOR):c.4136+288C>T	RICTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2285075	NM_152756.5(RICTOR):c.4082C>T (p.Thr1361Ile)	RICTOR (T1076I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314290	NM_152756.5(RICTOR):c.4042T>C (p.Ser1348Pro)	RICTOR (S1063P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314289	NM_152756.5(RICTOR):c.4023G>C (p.Met1341Ile)	RICTOR (M1056I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589528	NM_152756.5(RICTOR):c.3922A>G (p.Ile1308Val)	RICTOR (I1023V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540835	NM_152756.5(RICTOR):c.3896G>A (p.Arg1299Lys)	RICTOR (R1014K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512017	NM_152756.5(RICTOR):c.3835C>G (p.Leu1279Val)	RICTOR (L994V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314288	NM_152756.5(RICTOR):c.3832T>C (p.Ser1278Pro)	RICTOR (S993P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321119	NM_152756.5(RICTOR):c.3800G>A (p.Ser1267Asn)	RICTOR (S1267N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275794	NM_152756.5(RICTOR):c.3748A>G (p.Thr1250Ala)	RICTOR (T965A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154231	NM_152756.5(RICTOR):c.3549A>C (p.Leu1183Phe)	RICTOR (L898F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369028	NM_152756.5(RICTOR):c.3461A>C (p.Gln1154Pro)	RICTOR (Q869P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154228	NM_152756.5(RICTOR):c.3313C>A (p.Pro1105Thr)	RICTOR (P1105T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154227	NM_152756.5(RICTOR):c.3285G>C (p.Lys1095Asn)	RICTOR (K1095N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476393	NM_152756.5(RICTOR):c.3200A>G (p.Asp1067Gly)	RICTOR (D782G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314287	NM_152756.5(RICTOR):c.3169A>G (p.Thr1057Ala)	RICTOR (T1057A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607795	NM_152756.5(RICTOR):c.3128G>A (p.Ser1043Asn)	RICTOR (S1043N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221617	NM_152756.5(RICTOR):c.3007G>T (p.Val1003Leu)	RICTOR (V718L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559922	NM_152756.5(RICTOR):c.2898G>A (p.Gly966=)	RICTOR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2342152	NM_152756.5(RICTOR):c.2822A>G (p.Asn941Ser)	RICTOR (N656S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154226	NM_152756.5(RICTOR):c.2728C>T (p.Arg910Cys)	RICTOR (R910C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314295	NM_152756.5(RICTOR):c.2618G>C (p.Arg873Pro)	RICTOR (R588P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355208	NM_152756.5(RICTOR):c.2618G>A (p.Arg873His)	RICTOR (R873H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154225	NM_152756.5(RICTOR):c.2539C>T (p.Leu847Phe)	RICTOR (L847F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782097	NM_152756.5(RICTOR):c.2433T>A (p.Ile811=)	RICTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713422	NM_152756.5(RICTOR):c.2247T>C (p.Asn749=)	RICTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2375554	NM_152756.5(RICTOR):c.2165C>G (p.Thr722Ser)	RICTOR (T722S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154224	NM_152756.5(RICTOR):c.2129A>G (p.Asp710Gly)	RICTOR (D425G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305910	NM_152756.5(RICTOR):c.2115G>T (p.Leu705Phe)	RICTOR (L420F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154222	NM_152756.5(RICTOR):c.2049G>C (p.Gln683His)	RICTOR (Q683H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542967	NM_152756.5(RICTOR):c.2008C>T (p.Pro670Ser)	RICTOR (P670S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314293	NM_152756.5(RICTOR):c.1892T>C (p.Val631Ala)	RICTOR (V631A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314291	NM_152756.5(RICTOR):c.1771C>G (p.Leu591Val)	RICTOR (L591V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410612	NM_152756.5(RICTOR):c.1621A>G (p.Lys541Glu)	RICTOR (K256E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314294	NM_152756.5(RICTOR):c.1505T>C (p.Ile502Thr)	RICTOR (I217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154221	NM_152756.5(RICTOR):c.1462A>C (p.Lys488Gln)	RICTOR (K203Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534141	NM_152756.5(RICTOR):c.1384C>A (p.Pro462Thr)	RICTOR (P462T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154220	NM_152756.5(RICTOR):c.1373C>T (p.Ser458Phe)	RICTOR (S173F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376462	NM_152756.5(RICTOR):c.1364T>C (p.Met455Thr)	RICTOR (M170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237710	NM_152756.5(RICTOR):c.1339C>T (p.His447Tyr)	RICTOR (H162Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929749	NM_152756.5(RICTOR):c.1325A>G (p.His442Arg)	RICTOR (H157R +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 3154219	NM_152756.5(RICTOR):c.1265G>A (p.Arg422Lys)	RICTOR (R137K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559634	NM_152756.5(RICTOR):c.1229A>C (p.Glu410Ala)	RICTOR (E410A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244783	NM_152756.5(RICTOR):c.1201C>T (p.Arg401Cys)	RICTOR (R116C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361368	NM_152756.5(RICTOR):c.1139G>A (p.Arg380His)	RICTOR (R95H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385124	NM_152756.5(RICTOR):c.1126A>G (p.Ile376Val)	RICTOR (I91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655439	NM_152756.5(RICTOR):c.1083T>C (p.Ser361=)	RICTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369683	NM_152756.5(RICTOR):c.1007G>A (p.Arg336His)	RICTOR (R336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655440	NM_152756.5(RICTOR):c.432A>G (p.Thr144=)	RICTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3154230	NM_152756.5(RICTOR):c.353A>G (p.Gln118Arg)	RICTOR (Q118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154229	NM_152756.5(RICTOR):c.346A>G (p.Ile116Val)	RICTOR (I116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154223	NM_152756.5(RICTOR):c.209T>C (p.Ile70Thr)	RICTOR (I70T)	Single nucleotide variant (missense variant +1 more)	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 1809312	GRCh37/hg19 5p13.1(chr5:38747296-39159120)x3	FYB1, OSMR +1 more	Copy number gain	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 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	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 395391	GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3	C9, EGFLAM +10 more	Copy number gain	See cases	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 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: 88