ClinVar for Gene (Select 57521) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315362	NM_020761.3(RPTOR):c.2280C>A (p.Ser760Arg)	RPTOR (S602R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315361	NM_020761.3(RPTOR):c.3658C>A (p.Gln1220Lys)	RPTOR (Q1062K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156319	NM_020761.3(RPTOR):c.3710G>A (p.Arg1237His)	RPTOR (R1079H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156318	NM_020761.3(RPTOR):c.3365C>T (p.Thr1122Met)	RPTOR (T964M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156317	NM_020761.3(RPTOR):c.2857G>A (p.Ala953Thr)	RPTOR (A795T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156316	NM_020761.3(RPTOR):c.283C>G (p.Pro95Ala)	RPTOR (P95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156315	NM_020761.3(RPTOR):c.2713C>T (p.Arg905Trp)	RPTOR (R747W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156314	NM_020761.3(RPTOR):c.2329C>T (p.His777Tyr)	RPTOR (H619Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156313	NM_020761.3(RPTOR):c.1840G>A (p.Glu614Lys)	RPTOR (E614K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156312	NM_020761.3(RPTOR):c.1643C>T (p.Thr548Met)	RPTOR (T548M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156311	NM_020761.3(RPTOR):c.1454G>A (p.Arg485Gln)	RPTOR (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156310	NM_020761.3(RPTOR):c.1184C>T (p.Thr395Met)	RPTOR (T395M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684859	GRCh37/hg19 17q25.3(chr17:78228491-78573872)x3	ENDOV, NPTX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2648432	NM_020761.3(RPTOR):c.3618G>A (p.Thr1206=)	RPTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648431	NM_020761.3(RPTOR):c.3140+7A>G	RPTOR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648430	NM_020761.3(RPTOR):c.1594C>A (p.Arg532=)	RPTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608519	NM_020761.3(RPTOR):c.919A>G (p.Thr307Ala)	RPTOR (T307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553235	NM_020761.3(RPTOR):c.3625G>C (p.Glu1209Gln)	RPTOR (E1209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539939	NM_020761.3(RPTOR):c.1982A>T (p.Lys661Met)	RPTOR (K661M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519192	NM_020761.3(RPTOR):c.2666C>T (p.Thr889Ile)	RPTOR (T731I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411758	NM_020761.3(RPTOR):c.664A>G (p.Ile222Val)	RPTOR (I222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405874	NM_020761.3(RPTOR):c.1448C>T (p.Ser483Leu)	RPTOR (S483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399414	NM_020761.3(RPTOR):c.1270G>A (p.Val424Met)	RPTOR (V424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373361	NM_020761.3(RPTOR):c.2861C>T (p.Thr954Met)	RPTOR (T796M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367293	NM_020761.3(RPTOR):c.3964G>A (p.Asp1322Asn)	RPTOR (D1164N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362094	NM_020761.3(RPTOR):c.1568C>T (p.Ala523Val)	RPTOR (A523V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336968	NM_020761.3(RPTOR):c.2371A>G (p.Ser791Gly)	RPTOR (S633G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318671	NM_020761.3(RPTOR):c.2680A>C (p.Lys894Gln)	RPTOR (K894Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318134	NM_020761.3(RPTOR):c.3764G>C (p.Gly1255Ala)	RPTOR (G1097A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283702	NM_020761.3(RPTOR):c.1969C>G (p.Pro657Ala)	RPTOR (P657A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273079	NM_020761.3(RPTOR):c.760A>G (p.Met254Val)	RPTOR (M254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270890	NM_020761.3(RPTOR):c.2011G>A (p.Val671Met)	RPTOR (V513M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247591	NM_020761.3(RPTOR):c.1082A>G (p.Asn361Ser)	RPTOR (N361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239742	NM_020761.3(RPTOR):c.908A>G (p.Asn303Ser)	RPTOR (N303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238816	NM_020761.3(RPTOR):c.3979G>A (p.Val1327Met)	RPTOR (V1327M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232319	NM_020761.3(RPTOR):c.3643G>A (p.Val1215Met)	RPTOR (V1057M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230627	NM_020761.3(RPTOR):c.3115G>A (p.Ala1039Thr)	RPTOR (A881T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230618	NM_020761.3(RPTOR):c.3460C>T (p.Arg1154Cys)	RPTOR (R996C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228085	NM_020761.3(RPTOR):c.3277A>G (p.Ile1093Val)	RPTOR (I1093V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218807	NM_020761.3(RPTOR):c.2014G>T (p.Val672Phe)	RPTOR (V672F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212523	NM_020761.3(RPTOR):c.3842A>G (p.Asn1281Ser)	RPTOR (N1281S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212522	NM_020761.3(RPTOR):c.2527G>A (p.Val843Met)	RPTOR (V685M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809041	GRCh37/hg19 17q25.3(chr17:78230693-79048694)x4	BAIAP2, CHMP6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808285	GRCh37/hg19 17q25.3(chr17:78502408-79065152)x4	BAIAP2, CHMP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1340097	GRCh37/hg19 17q25.3(chr17:78281233-78524153)x3	ENDOV, NPTX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980729	GRCh37/hg19 17q25.3(chr17:78460880-79065152)x3	BAIAP2, CHMP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980728	GRCh37/hg19 17q25.3(chr17:78502407-79065152)x3	BAIAP2, CHMP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 785586	NM_020761.3(RPTOR):c.1797C>T (p.Ser599=)	RPTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778753	NM_020761.3(RPTOR):c.1185G>A (p.Thr395=)	RPTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777274	NM_020761.3(RPTOR):c.3222G>A (p.Glu1074=)	RPTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777273	NM_020761.3(RPTOR):c.3140+9C>T	RPTOR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777272	NM_020761.3(RPTOR):c.1851C>T (p.Cys617=)	RPTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770450	NM_020761.3(RPTOR):c.1644G>A (p.Thr548=)	RPTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 741065	NM_020761.3(RPTOR):c.1719G>T (p.Leu573=)	RPTOR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735918	NM_020761.3(RPTOR):c.2925A>G (p.Pro975=)	RPTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442849	GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3	CARD14, CCDC40 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75