ClinVar for Gene (Select 50) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 773

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3137244	NM_001098.3(ACO2):c.647T>G (p.Val216Gly)	ACO2 (V216G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137235	NM_001098.3(ACO2):c.430A>C (p.Lys144Gln)	ACO2 (K144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137204	NM_001098.3(ACO2):c.1610T>C (p.Phe537Ser)	ACO2, LOC130067544 (F537S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065644	NM_001098.3(ACO2):c.569G>A (p.Gly190Asp)	ACO2 (G190D)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration	GLikely pathogenic
Select item 3064018	NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)	ACO2 (D481A)	Single nucleotide variant (missense variant)	Optic atrophy 9	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3061339	NM_001098.3(ACO2):c.2284C>T (p.Gln762Ter)	ACO2, POLR3H (Q762*)	Single nucleotide variant (3 prime UTR variant +1 more)	ACO2-related disorder	GUncertain significance
Select item 3051288	NM_001098.3(ACO2):c.354G>A (p.Val118=)	ACO2	Single nucleotide variant (synonymous variant)	ACO2-related disorder	GUncertain significance
Select item 3050889	NM_001098.3(ACO2):c.1497G>A (p.Leu499=)	ACO2	Single nucleotide variant (synonymous variant)	ACO2-related disorder	GLikely benign
Select item 3049134	NM_001098.3(ACO2):c.1030G>A (p.Glu344Lys)	ACO2 (E344K)	Single nucleotide variant (missense variant)	ACO2-related disorder	GUncertain significance
Select item 3022886	NM_001098.3(ACO2):c.1878C>T (p.Asn626=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3016269	NM_001098.3(ACO2):c.327G>A (p.Gln109=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014479	NM_001098.3(ACO2):c.2006C>G (p.Ser669Trp)	ACO2, POLR3H (S669W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3008426	NM_001098.3(ACO2):c.1270C>T (p.Arg424Cys)	ACO2 (R424C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998775	NM_001098.3(ACO2):c.1917G>C (p.Glu639Asp)	ACO2, POLR3H (E639D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2991660	NM_001098.3(ACO2):c.2148C>G (p.Asn716Lys)	ACO2, POLR3H (N716K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2990866	NM_001098.3(ACO2):c.52C>T (p.Arg18Trp)	ACO2 (R18W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990400	NM_001098.3(ACO2):c.230C>T (p.Pro77Leu)	ACO2 (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988726	NM_001018050.4(POLR3H):c.*2813del	ACO2, POLR3H	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2986869	NM_001098.3(ACO2):c.744C>A (p.Ile248=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982996	NM_001098.3(ACO2):c.704C>T (p.Thr235Met)	ACO2 (T235M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980862	NM_001098.3(ACO2):c.1652G>A (p.Ser551Asn)	ACO2, LOC130067544 (S551N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980324	NM_001098.3(ACO2):c.60C>T (p.Tyr20=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972624	NM_001098.3(ACO2):c.108C>T (p.His36=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968315	NM_001098.3(ACO2):c.843G>A (p.Ala281=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967127	NM_001098.3(ACO2):c.2197A>G (p.Thr733Ala)	ACO2, POLR3H (T733A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2960199	NM_001098.3(ACO2):c.342G>A (p.Gly114=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959437	NM_001098.3(ACO2):c.1440C>T (p.Asn480=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958223	NM_001098.3(ACO2):c.268C>T (p.Arg90Trp)	ACO2 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957141	NM_001098.3(ACO2):c.886G>A (p.Val296Met)	ACO2 (V296M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2955333	NM_001098.3(ACO2):c.306G>A (p.Thr102=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901980	NM_001098.3(ACO2):c.2217G>T (p.Lys739Asn)	ACO2, POLR3H (K739N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2892785	NM_001098.3(ACO2):c.1872T>C (p.Ile624=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2880887	NM_001098.3(ACO2):c.992G>A (p.Gly331Asp)	ACO2 (G331D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879944	NM_001098.3(ACO2):c.1374G>A (p.Lys458=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2874542	NM_001098.3(ACO2):c.717C>T (p.Ser239=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870327	NM_001098.3(ACO2):c.2052G>A (p.Arg684=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	ACO2-related disorder +1 more	GLikely benign
Select item 2869940	NM_001098.3(ACO2):c.1499C>T (p.Ala500Val)	ACO2 (A500V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866468	NM_001098.3(ACO2):c.660C>T (p.Ile220=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862912	NM_001098.3(ACO2):c.325C>T (p.Gln109Ter)	ACO2 (Q109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2861383	NM_001098.3(ACO2):c.1909del (p.Thr637fs)	ACO2, POLR3H (T637fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2852134	NM_001098.3(ACO2):c.1401A>G (p.Thr467=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850758	NM_001098.3(ACO2):c.604G>C (p.Gly202Arg)	ACO2 (G202R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850327	NM_001098.3(ACO2):c.319A>C (p.Met107Leu)	ACO2 (M107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845884	NM_001098.3(ACO2):c.671T>C (p.Leu224Pro)	ACO2 (L224P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845692	NM_001098.3(ACO2):c.525+19T>C	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842702	NM_001098.3(ACO2):c.1143A>C (p.Leu381=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839657	NM_001098.3(ACO2):c.873G>T (p.Gly291=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830019	NM_001098.3(ACO2):c.1441G>A (p.Asp481Asn)	ACO2 (D481N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826164	NM_001098.3(ACO2):c.1033-5T>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823026	NM_001098.3(ACO2):c.1691G>A (p.Arg564His)	ACO2, LOC130067544 (R564H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815918	NM_001098.3(ACO2):c.1295A>G (p.Tyr432Cys)	ACO2 (Y432C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814593	NM_001098.3(ACO2):c.940+9G>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814290	NM_001098.3(ACO2):c.969G>T (p.Lys323Asn)	ACO2 (K323N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813366	NM_001098.3(ACO2):c.1594C>T (p.Leu532Phe)	ACO2 (L532F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812466	NM_001098.3(ACO2):c.520C>T (p.His174Tyr)	ACO2 (H174Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811496	NM_001098.3(ACO2):c.2100G>T (p.Lys700Asn)	ACO2, POLR3H (K700N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2811107	NM_001098.3(ACO2):c.432+5G>C	ACO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804499	NM_001098.3(ACO2):c.1566C>A (p.Phe522Leu)	ACO2 (F522L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804203	NM_001098.3(ACO2):c.836-19G>C	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797895	NM_001098.3(ACO2):c.1898G>T (p.Arg633Leu)	ACO2, POLR3H (R633L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2796046	NM_001098.3(ACO2):c.744C>T (p.Ile248=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795812	NM_001098.3(ACO2):c.1371-19G>C	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794979	NM_001098.3(ACO2):c.1296+17C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794784	NM_001098.3(ACO2):c.1851G>C (p.Leu617=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793203	NM_001098.3(ACO2):c.856A>G (p.Met286Val)	ACO2 (M286V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791570	NM_001098.3(ACO2):c.2129C>A (p.Ala710Asp)	ACO2, POLR3H (A710D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2786925	NM_001098.3(ACO2):c.1987G>A (p.Glu663Lys)	ACO2, POLR3H (E663K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2785690	NM_001098.3(ACO2):c.665G>A (p.Trp222Ter)	ACO2 (W222*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2785285	NM_001098.3(ACO2):c.1138+15C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780688	NM_001098.3(ACO2):c.1726G>A (p.Gly576Ser)	ACO2, LOC130067544 (G576S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780457	NM_001098.3(ACO2):c.1032+2T>C	ACO2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2778605	NM_001098.3(ACO2):c.546G>C (p.Ala182=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776493	NM_001018050.4(POLR3H):c.815_816delinsGT	ACO2, POLR3H	Indel (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2776223	NM_001098.3(ACO2):c.1996G>A (p.Gly666Ser)	ACO2, POLR3H (G666S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2770345	NM_001098.3(ACO2):c.684+14_684+56del	ACO2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2768024	NM_001098.3(ACO2):c.1078C>G (p.Pro360Ala)	ACO2 (P360A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759478	NM_001098.3(ACO2):c.685-20C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759283	NM_001098.3(ACO2):c.2202T>C (p.Pro734=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2758947	NM_001018050.4(POLR3H):c.*2822T>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2751430	NM_001098.3(ACO2):c.330C>G (p.Phe110Leu)	ACO2 (F110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750686	NM_001098.3(ACO2):c.1103C>T (p.Ala368Val)	ACO2 (A368V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749055	NM_001018050.4(POLR3H):c.*1850G>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2728092	NM_001098.3(ACO2):c.145G>A (p.Glu49Lys)	ACO2 (E49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725423	NM_001018050.4(POLR3H):c.*1245G>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2716042	NM_001098.3(ACO2):c.86G>A (p.Arg29Gln)	ACO2 (R29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710697	NM_001098.3(ACO2):c.1269_1270delinsAA (p.Arg424Ser)	ACO2 (R424S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2710409	NM_001098.3(ACO2):c.2130T>A (p.Ala710=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2701191	NM_001018050.4(POLR3H):c.*1999T>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2696957	NM_001098.3(ACO2):c.2088G>T (p.Glu696Asp)	ACO2, POLR3H (E696D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2695554	NM_001098.3(ACO2):c.1033C>T (p.Leu345=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2686036	NM_001098.3(ACO2):c.1831_1833delinsC (p.Asp611fs)	ACO2, POLR3H (D611fs)	Indel (3 prime UTR variant +1 more)	Optic atrophy 9	GLikely pathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2662233	NM_001098.3(ACO2):c.266TGCGGC[3] (p.Arg92_Pro93insLeuArg)	ACO2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2653232	NM_001098.3(ACO2):c.1304T>C (p.Ile435Thr)	ACO2 (I435T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653231	NM_001098.3(ACO2):c.1005C>G (p.Asp335Glu)	ACO2 (D335E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653230	NM_001098.3(ACO2):c.303G>A (p.Ala101=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635572	NM_001098.3(ACO2):c.1687_1696dup (p.Gln566fs)	ACO2, LOC130067544 (Q566fs)	Duplication (frameshift variant)	ACO2-related disorder	GLikely pathogenic
Select item 2582321	NM_001098.3(ACO2):c.1940C>G (p.Ala647Gly)	POLR3H, ACO2 (A647G)	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile cerebellar-retinal degeneration	GUncertain significance

<< First< Prev

Page of 8