ClinVar for Gene (Select 253260) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 3025361	NM_152756.5(RICTOR):c.4611G>T (p.Leu1537=)	OSMR, RICTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2655440	NM_152756.5(RICTOR):c.432A>G (p.Thr144=)	RICTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655439	NM_152756.5(RICTOR):c.1083T>C (p.Ser361=)	RICTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2559922	NM_152756.5(RICTOR):c.2898G>A (p.Gly966=)	RICTOR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 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 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
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 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 521034	NM_152756.5(RICTOR):c.4346del (p.Asn1449fs)	RICTOR (N1164fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 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 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 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 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76