ClinVar for Gene (Select 138065) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155217	NM_001371237.1(RNF183):c.394C>G (p.Pro132Ala)	RNF183 (P132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155216	NM_001371237.1(RNF183):c.319C>T (p.Arg107Cys)	RNF183 (R107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155215	NM_001371237.1(RNF183):c.127C>T (p.His43Tyr)	RNF183 (H43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2606376	NM_001371237.1(RNF183):c.485T>G (p.Ile162Ser)	RNF183 (I162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595915	NM_001371237.1(RNF183):c.370C>G (p.Pro124Ala)	RNF183 (P124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568785	NM_001371237.1(RNF183):c.155G>A (p.Arg52His)	RNF183 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516564	NM_001371237.1(RNF183):c.415G>A (p.Val139Met)	RNF183 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491393	NM_001371237.1(RNF183):c.569G>A (p.Gly190Asp)	RNF183 (G190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456640	NM_001371237.1(RNF183):c.371C>G (p.Pro124Arg)	RNF183 (P124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427240	NC_000009.11:g.(?_116037910)_(116993432_?)dup	ALAD, AMBP +11 more	Duplication	not provided	GUncertain significance
Select item 2409908	NM_001371237.1(RNF183):c.157C>T (p.Arg53Cys)	RNF183 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394906	NM_001371237.1(RNF183):c.284G>A (p.Gly95Asp)	RNF183 (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353402	NM_001371237.1(RNF183):c.466C>T (p.Arg156Cys)	RNF183 (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293668	NM_001371237.1(RNF183):c.19C>T (p.Arg7Trp)	RNF183 (R7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217336	NM_001371237.1(RNF183):c.380A>G (p.Gln127Arg)	RNF183 (Q127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527544	GRCh37/hg19 9q32(chr9:115883313-116179965)	ALAD, BSPRY +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1411273	NC_000009.11:g.(?_116041205)_(116155839_?)dup	ALAD, BSPRY +4 more	Duplication	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
Select item 686608	GRCh37/hg19 9q32(chr9:116034704-116199658)x3	ALAD, BSPRY +7 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 393790	GRCh37/hg19 9q32(chr9:116044980-116060890)x3	PRPF4, RNF183	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 49