RIOK3[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 2235862	NM_003831.5(RIOK3):c.155A>C (p.Glu52Ala)	RIOK3 (E52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220189	NM_003831.5(RIOK3):c.163G>A (p.Val55Ile)	RIOK3 (V55I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302572	NM_003831.5(RIOK3):c.184G>T (p.Ala62Ser)	RIOK3 (A62S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487846	NM_003831.5(RIOK3):c.199A>G (p.Ile67Val)	RIOK3 (I67V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525297	NM_003831.5(RIOK3):c.224C>G (p.Ser75Cys)	RIOK3 (S75C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3154475	NM_003831.5(RIOK3):c.280G>A (p.Ala94Thr)	RIOK3 (A78T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154476	NM_003831.5(RIOK3):c.350G>A (p.Arg117Gln)	RIOK3 (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616793	NM_003831.5(RIOK3):c.443T>C (p.Val148Ala)	RIOK3 (V132A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154477	NM_003831.5(RIOK3):c.656G>A (p.Arg219His)	RIOK3 (R203H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278686	NM_003831.5(RIOK3):c.656G>T (p.Arg219Leu)	RIOK3 (R203L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307645	NM_003831.5(RIOK3):c.806A>G (p.Tyr269Cys)	RIOK3 (Y269C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458133	NM_003831.5(RIOK3):c.965G>A (p.Arg322His)	RIOK3 (R322H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154478	NM_003831.5(RIOK3):c.977G>A (p.Arg326His)	RIOK3 (R310H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302637	NM_003831.5(RIOK3):c.1017G>A (p.Met339Ile)	RIOK3 (M323I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154470	NM_003831.5(RIOK3):c.1102C>T (p.Pro368Ser)	RIOK3 (P368S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538121	NM_003831.5(RIOK3):c.1154C>T (p.Ala385Val)	RIOK3 (A369V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154471	NM_003831.5(RIOK3):c.1184A>G (p.Gln395Arg)	RIOK3 (Q379R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153056	GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1	ANKRD29, LAMA3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 3154472	NM_003831.5(RIOK3):c.1298C>T (p.Pro433Leu)	RIOK3 (P417L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590047	NM_003831.5(RIOK3):c.1321C>T (p.Arg441Trp)	RIOK3 (R425W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314506	NM_003831.5(RIOK3):c.1358G>C (p.Gly453Ala)	RIOK3 (G437A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470019	NM_003831.5(RIOK3):c.1371A>C (p.Glu457Asp)	RIOK3 (E441D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314505	NM_003831.5(RIOK3):c.1402G>C (p.Val468Leu)	RIOK3 (V468L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781397	NM_003831.5(RIOK3):c.1453-9T>C	RIOK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3154474	NM_003831.5(RIOK3):c.1481A>T (p.Asp494Val)	RIOK3 (D494V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611652	NM_003831.5(RIOK3):c.1550A>G (p.Tyr517Cys)	RIOK3 (Y501C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242762	NC_000018.9:g.(?_20516815)_(21534612_?)del	ANKRD29, CABLES1 +6 more	Deletion	Niemann-Pick disease, type C1	GPathogenic
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2684871	GRCh37/hg19 18q11.2(chr18:20920907-21418343)x3	ANKRD29, LAMA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684869	GRCh37/hg19 18q11.2(chr18:20727641-21033786)x3	CABLES1, RIOK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2422760	NC_000018.9:g.(?_18963480)_(21534612_?)dup	ABHD3, ANKRD29 +15 more	Duplication	Niemann-Pick disease, type C1	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815991	GRCh37/hg19 18q11.2(chr18:20958811-21082161)x1	TMEM241, RIOK3	Copy number loss	not provided	GLikely benign
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 65