RIOK2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +146 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +342 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +119 more	Copy number gain	See cases	GUncertain significance
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 2512957	NM_018343.3(RIOK2):c.1643G>A (p.Ser548Asn)	RIOK2 (S548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463754	NM_018343.3(RIOK2):c.1598G>A (p.Arg533His)	RIOK2 (R533H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154464	NM_018343.3(RIOK2):c.1584A>G (p.Ile528Met)	RIOK2 (I528M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768022	NM_018343.3(RIOK2):c.1520G>A (p.Arg507His)	RIOK2 (R507H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768023	NM_018343.3(RIOK2):c.1495-6T>C	RIOK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2272786	NM_018343.3(RIOK2):c.1468G>A (p.Ala490Thr)	RIOK2 (A490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349011	NM_018343.3(RIOK2):c.1391C>T (p.Pro464Leu)	RIOK2 (P464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391459	NM_018343.3(RIOK2):c.1364T>C (p.Leu455Ser)	RIOK2 (L455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253824	NM_018343.3(RIOK2):c.1334A>G (p.Tyr445Cys)	RIOK2 (Y445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481958	NM_018343.3(RIOK2):c.1313T>C (p.Val438Ala)	RIOK2 (V438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252012	NM_018343.3(RIOK2):c.1219G>A (p.Val407Ile)	RIOK2 (V407I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154469	NM_018343.3(RIOK2):c.977T>C (p.Ile326Thr)	RIOK2 (I326T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525554	NM_018343.3(RIOK2):c.967G>C (p.Asp323His)	RIOK2 (D323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394353	NM_018343.3(RIOK2):c.886C>G (p.Leu296Val)	RIOK2 (L296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154467	NM_018343.3(RIOK2):c.769A>C (p.Asn257His)	RIOK2 (N257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785132	NM_018343.3(RIOK2):c.672G>A (p.Leu224=)	RIOK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 152354	GRCh38/hg38 5q15(chr5:97175202-97978619)x1	LINC01340, LINC02234 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2527062	NM_018343.3(RIOK2):c.439A>G (p.Asn147Asp)	RIOK2 (N147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791138	NM_018343.3(RIOK2):c.431A>G (p.His144Arg)	RIOK2 (H144R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2491573	NM_018343.3(RIOK2):c.357A>C (p.Gln119His)	RIOK2 (Q119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154466	NM_018343.3(RIOK2):c.343G>C (p.Glu115Gln)	RIOK2 (E115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305770	NM_018343.3(RIOK2):c.299A>T (p.Gln100Leu)	RIOK2 (Q100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154465	NM_018343.3(RIOK2):c.293G>T (p.Gly98Val)	RIOK2 (G98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534833	NM_018343.3(RIOK2):c.197G>A (p.Arg66His)	RIOK2 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253133	NM_018343.3(RIOK2):c.170T>C (p.Val57Ala)	RIOK2 (V57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228181	NM_018343.3(RIOK2):c.103G>A (p.Gly35Ser)	RIOK2 (G35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154468	NM_018343.3(RIOK2):c.85A>G (p.Asn29Asp)	RIOK2 (N29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328968	NM_018343.3(RIOK2):c.5G>A (p.Gly2Glu)	RIOK2 (G2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 980166	GRCh37/hg19 5q15(chr5:96319606-96585510)x3	RIOK2, LIX1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 688145	GRCh37/hg19 5q15(chr5:95335480-97832367)x3	CAST, ERAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687706	GRCh37/hg19 5q15(chr5:96097916-96840263)x3	CAST, ERAP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395055	GRCh37/hg19 5q15(chr5:96440989-96518843)x1	LIX1, RIOK2	Copy number loss	See cases	GUncertain significance

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Items: 57