ClinVar for Gene (Select 84864) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314510	NM_153182.4(RIOX2):c.439C>A (p.Leu147Ile)	RIOX2 (L147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314509	NM_153182.4(RIOX2):c.737C>T (p.Ala246Val)	RIOX2 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314508	NM_153182.4(RIOX2):c.579G>T (p.Glu193Asp)	RIOX2 (E193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314507	NM_153182.4(RIOX2):c.624G>C (p.Glu208Asp)	RIOX2 (E208D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154514	NM_153182.4(RIOX2):c.995A>G (p.Lys332Arg)	RIOX2 (K332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154512	NM_153182.4(RIOX2):c.920G>T (p.Arg307Leu)	RIOX2 (R307L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154511	NM_153182.4(RIOX2):c.91T>A (p.Ser31Thr)	RIOX2 (S31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154510	NM_153182.4(RIOX2):c.911C>A (p.Ala304Asp)	RIOX2 (A304D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154509	NM_153182.4(RIOX2):c.910G>T (p.Ala304Ser)	RIOX2 (A304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154508	NM_153182.4(RIOX2):c.874C>T (p.Arg292Trp)	RIOX2 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154507	NM_153182.4(RIOX2):c.865G>A (p.Gly289Ser)	RIOX2 (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154506	NM_153182.4(RIOX2):c.818C>T (p.Ser273Leu)	RIOX2 (S273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154505	NM_153182.4(RIOX2):c.815T>C (p.Ile272Thr)	RIOX2 (I272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154503	NM_153182.4(RIOX2):c.808G>A (p.Asp270Asn)	RIOX2 (D270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154502	NM_153182.4(RIOX2):c.760G>A (p.Val254Met)	RIOX2 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154501	NM_153182.4(RIOX2):c.70T>G (p.Leu24Val)	RIOX2 (L24V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154500	NM_153182.4(RIOX2):c.648G>T (p.Arg216Ser)	RIOX2 (R216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154499	NM_153182.4(RIOX2):c.631G>A (p.Val211Met)	RIOX2 (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154498	NM_153182.4(RIOX2):c.596A>G (p.Tyr199Cys)	RIOX2 (Y199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154497	NM_153182.4(RIOX2):c.429T>G (p.Phe143Leu)	RIOX2 (F143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154496	NM_153182.4(RIOX2):c.406C>A (p.Gln136Lys)	RIOX2 (Q136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154495	NM_153182.4(RIOX2):c.311G>A (p.Arg104Gln)	RIOX2 (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154494	NM_153182.4(RIOX2):c.280A>G (p.Met94Val)	RIOX2 (M94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154493	NM_153182.4(RIOX2):c.202A>G (p.Arg68Gly)	RIOX2 (R68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154492	NM_153182.4(RIOX2):c.1385T>G (p.Ile462Ser)	RIOX2 (I461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154491	NM_153182.4(RIOX2):c.1252C>T (p.Arg418Cys)	RIOX2 (R417C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154490	NM_153182.4(RIOX2):c.1250T>G (p.Leu417Arg)	RIOX2 (L417R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154489	NM_153182.4(RIOX2):c.1249C>T (p.Leu417Phe)	RIOX2 (L416F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154488	NM_153182.4(RIOX2):c.1240T>G (p.Phe414Val)	RIOX2 (F414V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154487	NM_153182.4(RIOX2):c.1215G>T (p.Met405Ile)	RIOX2 (M404I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154486	NM_153182.4(RIOX2):c.1206G>C (p.Glu402Asp)	RIOX2 (E401D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154485	NM_153182.4(RIOX2):c.1067A>G (p.Lys356Arg)	RIOX2 (K355R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154484	NM_153182.4(RIOX2):c.1031C>T (p.Ala344Val)	RIOX2 (A343V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154482	NM_153182.4(RIOX2):c.1028C>T (p.Ser343Phe)	RIOX2 (S343F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154481	NM_153182.4(RIOX2):c.1021C>A (p.Pro341Thr)	RIOX2 (P341T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154480	NM_153182.4(RIOX2):c.1003A>G (p.Ile335Val)	RIOX2 (I335V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148905	GRCh37/hg19 3q11.2(chr3:96308168-98033912)x1	GABRR3, ARL6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 2685087	GRCh37/hg19 3q11.2(chr3:97542156-98076080)x1	CRYBG3, GABRR3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2618788	NM_153182.4(RIOX2):c.653G>T (p.Gly218Val)	RIOX2 (G218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613404	NM_153182.4(RIOX2):c.920G>A (p.Arg307Gln)	RIOX2 (R307Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2548478	NM_153182.4(RIOX2):c.1073C>G (p.Pro358Arg)	RIOX2 (P357R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546694	NM_153182.4(RIOX2):c.530C>T (p.Pro177Leu)	RIOX2 (P177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538396	NM_153182.4(RIOX2):c.866G>A (p.Gly289Asp)	RIOX2 (G289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532657	NM_153182.4(RIOX2):c.1268A>G (p.His423Arg)	RIOX2 (H422R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525804	NM_153182.4(RIOX2):c.985G>A (p.Asp329Asn)	RIOX2 (D328N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524035	NM_153182.4(RIOX2):c.487G>A (p.Gly163Ser)	RIOX2 (G163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487409	NM_153182.4(RIOX2):c.310C>T (p.Arg104Trp)	RIOX2 (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474119	NM_153182.4(RIOX2):c.449T>C (p.Ile150Thr)	RIOX2 (I150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474083	NM_153182.4(RIOX2):c.301A>G (p.Asn101Asp)	RIOX2 (N101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472855	NM_153182.4(RIOX2):c.1028C>G (p.Ser343Cys)	RIOX2 (S343C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472254	NM_153182.4(RIOX2):c.1021C>T (p.Pro341Ser)	RIOX2 (P341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470750	NM_153182.4(RIOX2):c.187C>G (p.Pro63Ala)	RIOX2 (P63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464008	NM_153182.4(RIOX2):c.967A>G (p.Lys323Glu)	RIOX2 (K322E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458820	NM_153182.4(RIOX2):c.47C>T (p.Pro16Leu)	RIOX2 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809463	GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3	ARL6, CRYBG3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808444	GRCh37/hg19 3q11.2(chr3:97377527-97805568)x3	ARL6, CRYBG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 814464	GRCh37/hg19 3q11.2(chr3:96850456-97974150)x3	GABRR3, OR5H1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443897	GRCh37/hg19 3q11.2(chr3:97650137-98174233)x3	CRYBG3, GABRR3 +9 more	Copy number gain	See cases	GUncertain significance
Select item 442412	GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3	ARL6, CRYBG3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394830	GRCh37/hg19 3q11.2(chr3:97631081-97736465)x1	CRYBG3, GABRR3 +1 more	Copy number loss	See cases	GUncertain significance
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 72