OTOR[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 148986	GRCh38/hg38 20p12.1(chr20:16704727-17303136)x3	LOC126862981, LOC130065446 +6 more	Copy number gain	See cases	GUncertain significance
Select item 148072	GRCh38/hg38 20p12.1(chr20:16721087-17300554)x3	LOC126862981, LOC130065446 +5 more	Copy number gain	See cases	GUncertain significance
Select item 403282	NM_020157.4(OTOR):c.2T>C (p.Met1Thr)	OTOR (M1T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2207429	NM_020157.4(OTOR):c.32G>T (p.Gly11Val)	OTOR (G11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207330	NM_020157.4(OTOR):c.70G>T (p.Asp24Tyr)	OTOR (D24Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060137	NM_020157.4(OTOR):c.92T>C (p.Leu31Pro)	OTOR (L31P)	Single nucleotide variant (missense variant)	OTOR-related disorder	GBenign
Select item 3303670	NM_020157.4(OTOR):c.140A>G (p.Gln47Arg)	OTOR (Q47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611331	NM_020157.4(OTOR):c.143A>G (p.Glu48Gly)	OTOR (E48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049411	NM_020157.4(OTOR):c.153T>C (p.Asn51=)	OTOR	Single nucleotide variant (synonymous variant)	OTOR-related disorder	GLikely benign
Select item 3207327	NM_020157.4(OTOR):c.175A>G (p.Asn59Asp)	OTOR (N59D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359224	NM_020157.4(OTOR):c.296A>T (p.Tyr99Phe)	OTOR (Y99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207328	NM_020157.4(OTOR):c.326G>A (p.Arg109His)	OTOR (R109H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207329	NM_020157.4(OTOR):c.377T>C (p.Phe126Ser)	OTOR (F126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3062415	GRCh37/hg19 20p12.1(chr20:16724769-16777359)x1	OTOR	Copy number loss	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816119	GRCh37/hg19 20p12.1(chr20:15872280-16764799)x1	MACROD2, SNRPB2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 687956	GRCh37/hg19 20p12.1(chr20:16688627-17288943)x3	OTOR, PCSK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 219047	GRCh37/hg19 20p12.1(chr20:16730002-17286002)x3	OTOR, PCSK2	Copy number gain	See cases	GUncertain significance

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Items: 37