ClinVar for Gene (Select 81857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294061	NM_030973.4(MED25):c.2180C>T (p.Pro727Leu)	MED25 (P727L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294060	NM_030973.4(MED25):c.734T>C (p.Val245Ala)	MED25 (V245A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254551	NM_030973.4(MED25):c.1950_1951insTT (p.Leu651fs)	MED25 (L651fs)	Insertion (frameshift variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 3248509	NC_000019.9:g.(?_50332011)_(50333471_?)del	MED25	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	MED25, RRAS +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3248485	NC_000019.9:g.(?_50331686)_(50367680_?)del	MED25, PNKP +2 more	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 3125042	NM_030973.4(MED25):c.1406G>A (p.Arg469Lys)	MED25 (R469K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125041	NM_030973.4(MED25):c.1099A>G (p.Met367Val)	MED25 (M367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125040	NM_030973.4(MED25):c.1057G>A (p.Gly353Ser)	MED25 (G353S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063666	NM_030973.4(MED25):c.2T>G (p.Met1Arg)	MED25 (M1R)	Single nucleotide variant (missense variant +1 more)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GLikely pathogenic
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3047809	NM_030973.4(MED25):c.264C>T (p.Thr88=)	MED25	Single nucleotide variant (synonymous variant)	MED25-related disorder	GLikely benign
Select item 3040403	NM_030973.4(MED25):c.684G>A (p.Leu228=)	MED25	Single nucleotide variant (synonymous variant)	MED25-related disorder	GLikely benign
Select item 3027281	NM_030973.4(MED25):c.1887C>T (p.Pro629=)	MED25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018201	NM_030973.4(MED25):c.135-12C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3017744	NM_030973.4(MED25):c.820-11T>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3015063	NM_030973.4(MED25):c.1272G>A (p.Thr424=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3013287	NM_030973.4(MED25):c.1078G>A (p.Ala360Thr)	MED25 (A360T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3011912	NM_030973.4(MED25):c.525+11C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3001560	NM_030973.4(MED25):c.804C>T (p.Val268=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2967061	NM_030973.4(MED25):c.306-6C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2963590	NM_030973.4(MED25):c.2235T>C (p.Asp745=)	MED25	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2963268	NM_030973.4(MED25):c.1746+18G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2957698	NM_030973.4(MED25):c.819+9A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2921235	NM_030973.3(MED25):c.1482+1G>A	MED25	Single nucleotide variant	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2919797	NM_030973.4(MED25):c.1527C>G (p.Arg509=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2918973	NM_030973.4(MED25):c.186G>C (p.Gly62=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2918803	NM_030973.4(MED25):c.965A>G (p.Gln322Arg)	MED25 (Q322R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2917562	NM_030973.4(MED25):c.1230+12G>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2914060	NM_030973.4(MED25):c.1101+8C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2911636	NM_030973.4(MED25):c.1966-18CT[2]	MED25	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2907481	NM_030973.4(MED25):c.1316+14_1316+15del	MED25, MIR6800	Deletion (intron variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2905653	NM_030973.4(MED25):c.1599C>T (p.Phe533=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2904603	NM_030973.4(MED25):c.123C>T (p.Leu41=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2902417	NM_030973.4(MED25):c.1747-14dup	MED25	Duplication (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2902054	NM_030973.4(MED25):c.750C>T (p.Ala250=)	MED25	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2898767	NM_030973.4(MED25):c.1395C>T (p.Phe465=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2898645	NM_030973.4(MED25):c.819+19A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2898308	NM_030973.4(MED25):c.189G>A (p.Gly63=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2892791	NM_030973.4(MED25):c.903T>G (p.Pro301=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2892170	NM_030973.4(MED25):c.123C>G (p.Leu41=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2890804	NM_030973.4(MED25):c.526-3C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2889923	NM_030973.4(MED25):c.404+12dup	MED25	Duplication (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2887202	NM_030973.4(MED25):c.525+12A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2884203	NM_030973.4(MED25):c.181-9C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2877787	NM_030973.4(MED25):c.601C>A (p.Pro201Thr)	MED25 (P201T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2875550	NM_030973.4(MED25):c.1615C>G (p.Gln539Glu)	MED25 (Q539E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2871155	NM_030973.4(MED25):c.820-16_820-9del	MED25	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2866653	NM_030973.4(MED25):c.1038G>A (p.Leu346=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2862886	NM_030973.4(MED25):c.1230+20A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2852053	NM_030973.4(MED25):c.1965+14G>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2840340	NM_030973.4(MED25):c.210G>A (p.Val70=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2828314	NM_030973.4(MED25):c.1731G>A (p.Arg577=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2818120	NM_030973.4(MED25):c.305+7T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2808665	NM_030973.4(MED25):c.181-17C>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2805655	NM_030973.4(MED25):c.316G>C (p.Gly106Arg)	MED25 (G106R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2797605	NM_030973.4(MED25):c.135-15T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2795464	NM_030973.4(MED25):c.192C>A (p.Thr64=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2776664	NM_030973.4(MED25):c.1263C>G (p.Thr421=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2775707	NM_030973.4(MED25):c.1749C>A (p.Leu583=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2771041	NM_030973.4(MED25):c.526-11C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2763010	NM_030973.4(MED25):c.1317-19C>T	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2757541	NM_030973.4(MED25):c.1316+20G>A	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2749454	NM_030973.4(MED25):c.135-11T>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2742629	NM_030973.4(MED25):c.1482+16G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2737124	NM_030973.4(MED25):c.1316+23del	MED25, MIR6800	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 2733468	NM_030973.4(MED25):c.306-16C>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2729735	NM_030973.4(MED25):c.1116C>G (p.Ala372=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2727347	NM_030973.4(MED25):c.1316+12T>C	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2725997	NM_030973.4(MED25):c.1482+14A>G	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2724160	NM_030973.4(MED25):c.48C>T (p.Ala16=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2720972	NM_030973.4(MED25):c.2199G>T (p.Leu733=)	MED25	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2718051	NM_030973.4(MED25):c.526-13C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2716283	NM_030973.4(MED25):c.526-17C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2713818	NM_030973.4(MED25):c.820-10C>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2709278	NM_030973.4(MED25):c.774A>G (p.Ser258=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2708252	NM_030973.4(MED25):c.1521G>A (p.Glu507=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2707456	NM_030973.4(MED25):c.2146+9A>C	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2704659	NM_030973.4(MED25):c.342C>A (p.Ile114=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650288	NM_030973.4(MED25):c.1275G>A (p.Arg425=)	MED25	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2650287	NM_030973.4(MED25):c.735C>T (p.Val245=)	MED25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627529	NM_030973.4(MED25):c.1388C>G (p.Pro463Arg)	MED25 (P463R)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2535124	NM_030973.4(MED25):c.1699G>A (p.Gly567Arg)	MED25 (G567R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468537	NM_030973.4(MED25):c.824C>T (p.Pro275Leu)	MED25 (P275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433726	NM_030973.4(MED25):c.1702C>G (p.Leu568Val)	MED25 (L568V)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2433725	NM_030973.4(MED25):c.671G>A (p.Arg224Gln)	MED25 (R224Q)	Single nucleotide variant (missense variant)	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	GUncertain significance
Select item 2428255	NM_030973.4(MED25):c.650C>T (p.Pro217Leu)	MED25 (P217L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2421887	NM_030973.4(MED25):c.1391del (p.Leu464fs)	MED25 (L464fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2420962	NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser)	MED25 (P590S)	Indel (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2414221	NM_030973.4(MED25):c.1048G>A (p.Val350Met)	MED25 (V350M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2413405	NM_030973.4(MED25):c.1102-4G>T	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2409232	NM_030973.4(MED25):c.1975G>A (p.Gly659Arg)	MED25 (G659R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381753	NM_030973.4(MED25):c.2003A>C (p.His668Pro)	MED25 (H668P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301894	NM_030973.4(MED25):c.306-6dup	MED25	Duplication (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2300454	NM_030973.4(MED25):c.1106G>A (p.Gly369Asp)	MED25 (G369D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285740	NM_030973.4(MED25):c.781_791del (p.Pro261fs)	MED25 (P261fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2280591	NM_030973.4(MED25):c.200G>C (p.Ser67Thr)	MED25 (S67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272237	NM_030973.4(MED25):c.1991A>G (p.Gln664Arg)	MED25 (Q664R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202259	NM_030973.4(MED25):c.1101+15G>A	MED25	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign

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