RIOK1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +824 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995709, LOC129995710 +642 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +778 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +611 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LINC01622, LINC02521 +558 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC129995671, LOC129995672 +509 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC129995581, LOC129995582 +436 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	ADTRP, BLOC1S5 +572 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +432 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 2567061	NM_031480.3(RIOK1):c.22A>G (p.Met8Val)	RIOK1 (M8V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2656207	NM_031480.3(RIOK1):c.115C>T (p.Leu39=)	RIOK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2303613	NM_031480.3(RIOK1):c.185G>A (p.Gly62Asp)	RIOK1 (G62D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3154458	NM_031480.3(RIOK1):c.201T>A (p.Asp67Glu)	RIOK1 (D67E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243516	NM_031480.3(RIOK1):c.216G>C (p.Trp72Cys)	RIOK1 (W72C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304605	NM_031480.3(RIOK1):c.238G>T (p.Ala80Ser)	RIOK1 (A80S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154459	NM_031480.3(RIOK1):c.259G>A (p.Gly87Arg)	RIOK1 (G87R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459241	NM_031480.3(RIOK1):c.364T>A (p.Leu122Ile)	RIOK1 (L122I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219612	NM_031480.3(RIOK1):c.445A>G (p.Ile149Val)	RIOK1 (I149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319090	NM_031480.3(RIOK1):c.449A>G (p.Lys150Arg)	RIOK1 (K46R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261780	NM_031480.3(RIOK1):c.521T>C (p.Leu174Ser)	RIOK1 (L174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154460	NM_031480.3(RIOK1):c.581T>C (p.Val194Ala)	RIOK1 (V90A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154461	NM_031480.3(RIOK1):c.716C>T (p.Pro239Leu)	RIOK1 (P135L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253046	NM_031480.3(RIOK1):c.758A>G (p.Asn253Ser)	RIOK1 (N253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613560	NM_031480.3(RIOK1):c.820G>A (p.Val274Ile)	RIOK1 (V170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154462	NM_031480.3(RIOK1):c.917A>C (p.Gln306Pro)	RIOK1 (Q202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154463	NM_031480.3(RIOK1):c.931A>G (p.Met311Val)	RIOK1 (M207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221384	NM_031480.3(RIOK1):c.1068C>G (p.Phe356Leu)	RIOK1 (F252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391561	NM_031480.3(RIOK1):c.1093A>G (p.Asn365Asp)	RIOK1 (N261D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307865	NM_031480.3(RIOK1):c.1105A>G (p.Met369Val)	RIOK1 (M265V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460569	NM_031480.3(RIOK1):c.1133T>C (p.Val378Ala)	RIOK1 (V378A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154457	NM_031480.3(RIOK1):c.1228A>T (p.Thr410Ser)	RIOK1 (T306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373496	NM_031480.3(RIOK1):c.1319A>T (p.Tyr440Phe)	RIOK1 (Y440F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517531	NM_031480.3(RIOK1):c.1333G>A (p.Asp445Asn)	RIOK1 (D445N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485262	NM_031480.3(RIOK1):c.1361A>T (p.Asp454Val)	RIOK1 (D350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322448	NM_031480.3(RIOK1):c.1441A>C (p.Lys481Gln)	RIOK1 (K377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249351	NM_031480.3(RIOK1):c.1489G>A (p.Asp497Asn)	RIOK1 (D393N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656208	NM_031480.3(RIOK1):c.1575G>C (p.Thr525=)	RIOK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362590	NM_031480.3(RIOK1):c.1586T>C (p.Ile529Thr)	RIOK1 (I529T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374259	NM_031480.3(RIOK1):c.1609A>G (p.Met537Val)	RIOK1 (M433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294818	NM_031480.3(RIOK1):c.1633A>G (p.Lys545Glu)	RIOK1 (K441E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372187	NM_031480.3(RIOK1):c.1658A>G (p.His553Arg)	RIOK1 (H553R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294377	NM_031480.3(RIOK1):c.1691C>G (p.Thr564Arg)	RIOK1 (T564R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1708201	GRCh37/hg19 6p25.1-24.3(chr6:6854908-7465142)x3	CAGE1, RIOK1 +2 more	Copy number gain	See cases	GPathogenic
Select item 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979725	GRCh37/hg19 6p25.1-24.3(chr6:6874846-7396438)x3	CAGE1, SSR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814785	GRCh37/hg19 6p25.1-24.3(chr6:6664656-7593975)x3	CAGE1, DSP +4 more	Copy number gain	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 688482	GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3	BMP6, CAGE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 685950	GRCh37/hg19 6p25.1-24.3(chr6:6864042-7437958)x3	CAGE1, RIOK1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441632	GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3	BMP6, CAGE1 +5 more	Copy number gain	See cases	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 70