RIGI[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 2825200	NM_014314.4(RIGI):c.2778A>G (p.Ter926Trp)	RIGI	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2086745	NM_014314.4(RIGI):c.2776T>C (p.Ter926Arg)	RIGI	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 714422	NM_014314.4(RIGI):c.2747T>C (p.Ile916Thr)	RIGI (I916T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1967850	NM_014314.4(RIGI):c.2730C>A (p.Asp910Glu)	RIGI (D763E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042579	NM_014314.4(RIGI):c.2730C>G (p.Asp910Glu)	RIGI (D853E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039146	NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr)	RIGI (D853Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2854840	NM_014314.4(RIGI):c.2727G>A (p.Lys909=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358102	NM_014314.4(RIGI):c.2723G>A (p.Trp908Ter)	RIGI (W908* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2876921	NM_014314.4(RIGI):c.2718G>A (p.Ser906=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168035	NM_014314.4(RIGI):c.2709A>G (p.Thr903=)	RIGI	Single nucleotide variant (synonymous variant)	RIGI-related disorder +2 more	GBenign
Select item 1400334	NM_014314.4(RIGI):c.2698G>T (p.Gly900Ter)	RIGI (G697* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2784830	NM_014314.4(RIGI):c.2694A>C (p.Ala898=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511268	NM_014314.4(RIGI):c.2686G>A (p.Asp896Asn)	RIGI (D896N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619121	NM_014314.4(RIGI):c.2681T>G (p.Val894Gly)	RIGI (V746G +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1379393	NM_014314.4(RIGI):c.2669A>G (p.Glu890Gly)	RIGI (E742G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721511	NM_014314.4(RIGI):c.2666T>A (p.Ile889Asn)	RIGI (I741N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480880	NM_014314.4(RIGI):c.2666T>C (p.Ile889Thr)	RIGI (I741T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422399	NM_014314.4(RIGI):c.2660T>C (p.Ile887Thr)	RIGI (I887T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1575439	NM_014314.4(RIGI):c.2659A>T (p.Ile887Leu)	RIGI (I684L +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1017102	NM_014314.4(RIGI):c.2653C>T (p.Pro885Ser)	RIGI (P682S +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2047731	NM_014314.4(RIGI):c.2640G>A (p.Lys880=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947091	NM_014314.4(RIGI):c.2621G>A (p.Gly874Glu)	RIGI (G671E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784631	NM_014314.4(RIGI):c.2616C>G (p.Asp872Glu)	RIGI (D870E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967069	NM_014314.4(RIGI):c.2612A>T (p.His871Leu)	RIGI (H814L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511135	NM_014314.4(RIGI):c.2603A>C (p.Asn868Thr)	RIGI (N721T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476328	NM_014314.4(RIGI):c.2597G>A (p.Arg866Gln)	RIGI (R809Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493909	NM_014314.4(RIGI):c.2596C>T (p.Arg866Ter)	RIGI (R718* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 997537	NM_014314.4(RIGI):c.2587_2590dup (p.Cys864fs)	RIGI (C661fs +6 more)	Duplication (frameshift variant)	not provided +1 more	GLikely benign
Select item 2531403	NM_014314.4(RIGI):c.2587T>C (p.Phe863Leu)	RIGI (F715L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2853876	NM_014314.4(RIGI):c.2586A>G (p.Ile862Met)	RIGI (I805M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989548	NM_014314.4(RIGI):c.2581_2582del (p.Lys861fs)	RIGI (K856fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2907511	NM_014314.4(RIGI):c.2575A>G (p.Arg859Gly)	RIGI (R802G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790775	NM_014314.4(RIGI):c.2564G>A (p.Ser855Asn)	RIGI (S652N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417317	NM_014314.4(RIGI):c.2560T>C (p.Ser854Pro)	RIGI (S849P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920241	NM_014314.4(RIGI):c.2556G>C (p.Gln852His)	RIGI (Q847H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487126	NM_014314.4(RIGI):c.2555A>G (p.Gln852Arg)	RIGI (Q705R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666019	NM_014314.4(RIGI):c.2544C>T (p.Pro848=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809869	NM_014314.4(RIGI):c.2537C>T (p.Pro846Leu)	RIGI (P643L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414722	NM_014314.4(RIGI):c.2532T>C (p.Ser844=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896563	NM_014314.4(RIGI):c.2527G>T (p.Val843Leu)	RIGI (V640L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974590	NM_014314.4(RIGI):c.2523C>T (p.Cys841=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035794	NM_014314.4(RIGI):c.2511T>G (p.Ala837=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030981	NM_014314.4(RIGI):c.2510C>G (p.Ala837Gly)	RIGI (A634G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853498	NM_014314.4(RIGI):c.2497G>A (p.Val833Met)	RIGI (V630M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184830	NM_014314.4(RIGI):c.2494A>G (p.Thr832Ala)	RIGI (T629A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2808006	NM_014314.4(RIGI):c.2490T>C (p.His830=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738309	NM_014314.4(RIGI):c.2481+18A>T	RIGI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126456	NM_014314.4(RIGI):c.2481+6C>G	RIGI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1931574	NM_014314.4(RIGI):c.2481+5G>C	RIGI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1513709	NM_014314.4(RIGI):c.2473G>A (p.Val825Met)	RIGI (V823M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902359	NM_014314.4(RIGI):c.2462_2471del (p.Ala821fs)	RIGI (A618fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2111106	NM_014314.4(RIGI):c.2467G>C (p.Val823Leu)	RIGI (V620L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076839	NM_014314.4(RIGI):c.2467G>A (p.Val823Ile)	RIGI (V676I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1137919	NM_014314.4(RIGI):c.2466C>T (p.Asp822=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596908	NM_014314.4(RIGI):c.2458A>G (p.Thr820Ala)	RIGI (T763A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2840307	NM_014314.4(RIGI):c.2456A>T (p.Tyr819Phe)	RIGI (Y672F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801113	NM_014314.4(RIGI):c.2443G>A (p.Ala815Thr)	RIGI (A612T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044716	NM_014314.4(RIGI):c.2438G>A (p.Cys813Tyr)	RIGI (C808Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720935	NM_014314.4(RIGI):c.2437T>A (p.Cys813Ser)	RIGI (C813S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013649	NM_014314.4(RIGI):c.2431A>G (p.Arg811Gly)	RIGI (R663G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024829	NM_014314.4(RIGI):c.2409G>T (p.Lys803Asn)	RIGI (K798N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031521	NM_014314.4(RIGI):c.2407A>G (p.Lys803Glu)	RIGI (K600E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798300	NM_014314.4(RIGI):c.2406T>C (p.Asp802=)	RIGI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499985	NM_014314.4(RIGI):c.2405A>G (p.Asp802Gly)	RIGI (D599G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488579	NM_014314.4(RIGI):c.2402C>T (p.Pro801Leu)	RIGI (P744L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169347	NM_014314.4(RIGI):c.2400A>C (p.Val800=)	RIGI	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 2 +2 more	GBenign
Select item 2835511	NM_014314.4(RIGI):c.2396C>T (p.Pro799Leu)	RIGI (P742L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999435	NM_014314.4(RIGI):c.2389C>T (p.Pro797Ser)	RIGI (P740S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990988	NM_014314.4(RIGI):c.2380C>T (p.Gln794Ter)	RIGI (Q646* +6 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2983406	NM_014314.4(RIGI):c.2377dup (p.Ser793fs)	RIGI (S590fs +6 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2509936	NM_014314.4(RIGI):c.2375A>G (p.Asp792Gly)	RIGI (D735G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190447	NM_014314.4(RIGI):c.2371A>G (p.Arg791Gly)	RIGI (R643G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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