ClinVar for Gene (Select 114788) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269870	NM_198123.2(CSMD3):c.5837G>T (p.Arg1946Leu)	CSMD3 (R1746L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269869	NM_198123.2(CSMD3):c.1088C>T (p.Thr363Ile)	CSMD3 (T323I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269868	NM_198123.2(CSMD3):c.3250C>T (p.Pro1084Ser)	CSMD3 (P1044S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269867	NM_198123.2(CSMD3):c.9790G>A (p.Glu3264Lys)	CSMD3 (E3095K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269866	NM_198123.2(CSMD3):c.6818A>C (p.Asn2273Thr)	CSMD3 (N2233T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269865	NM_198123.2(CSMD3):c.7009A>G (p.Ile2337Val)	CSMD3 (I2137V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269864	NM_198123.2(CSMD3):c.8408G>A (p.Gly2803Asp)	CSMD3 (G2603D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269863	NM_198123.2(CSMD3):c.8909T>C (p.Phe2970Ser)	CSMD3 (F2801S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269862	NM_198123.2(CSMD3):c.6229C>A (p.Gln2077Lys)	CSMD3 (Q2037K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269861	NM_198123.2(CSMD3):c.10521C>A (p.Phe3507Leu)	CSMD3 (F3307L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269859	NM_198123.2(CSMD3):c.2134G>A (p.Ala712Thr)	CSMD3 (A608T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269858	NM_198123.2(CSMD3):c.1102A>G (p.Ile368Val)	CSMD3 (I328V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269857	NM_198123.2(CSMD3):c.3758T>C (p.Leu1253Pro)	CSMD3 (L1149P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269856	NM_198123.2(CSMD3):c.667G>T (p.Val223Phe)	CSMD3 (V183F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078251	NM_198123.2(CSMD3):c.9554A>G (p.Tyr3185Cys)	CSMD3 (Y3016C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078250	NM_198123.2(CSMD3):c.9209G>A (p.Ser3070Asn)	CSMD3 (S2870N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078249	NM_198123.2(CSMD3):c.9074G>A (p.Arg3025His)	CSMD3 (R2856H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078248	NM_198123.2(CSMD3):c.8671T>G (p.Phe2891Val)	CSMD3 (F2722V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078247	NM_198123.2(CSMD3):c.8431A>G (p.Arg2811Gly)	CSMD3 (R2611G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078246	NM_198123.2(CSMD3):c.8339C>T (p.Thr2780Ile)	CSMD3 (T2780I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078245	NM_198123.2(CSMD3):c.7506C>A (p.Phe2502Leu)	CSMD3 (F2302L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078244	NM_198123.2(CSMD3):c.7384C>T (p.Arg2462Trp)	CSMD3 (R2358W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078242	NM_198123.2(CSMD3):c.7051G>A (p.Gly2351Ser)	CSMD3 (G2151S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078241	NM_198123.2(CSMD3):c.6550C>T (p.Pro2184Ser)	CSMD3 (P2080S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078240	NM_198123.2(CSMD3):c.6425A>T (p.Asn2142Ile)	CSMD3 (N2102I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078239	NM_198123.2(CSMD3):c.6137C>T (p.Ala2046Val)	CSMD3 (A2006V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078238	NM_198123.2(CSMD3):c.5635A>G (p.Ser1879Gly)	CSMD3 (S1879G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078237	NM_198123.2(CSMD3):c.5348G>A (p.Ser1783Asn)	CSMD3 (S1679N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078236	NM_198123.2(CSMD3):c.5261C>T (p.Ala1754Val)	CSMD3 (A1714V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078235	NM_198123.2(CSMD3):c.5104T>G (p.Phe1702Val)	CSMD3 (F1598V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078233	NM_198123.2(CSMD3):c.4682A>G (p.Gln1561Arg)	CSMD3 (Q1561R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078232	NM_198123.2(CSMD3):c.4580C>T (p.Ala1527Val)	CSMD3 (A1397V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078231	NM_198123.2(CSMD3):c.4399G>T (p.Asp1467Tyr)	CSMD3 (D1337Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078230	NM_198123.2(CSMD3):c.4173C>G (p.Ser1391Arg)	CSMD3 (S1391R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078229	NM_198123.2(CSMD3):c.4120G>A (p.Gly1374Ser)	CSMD3 (G1270S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078228	NM_198123.2(CSMD3):c.3945G>A (p.Met1315Ile)	CSMD3 (M1211I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078227	NM_198123.2(CSMD3):c.3903T>A (p.Asp1301Glu)	CSMD3 (D1171E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078226	NM_198123.2(CSMD3):c.3768T>G (p.Asn1256Lys)	CSMD3 (N1126K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078225	NM_198123.2(CSMD3):c.36G>T (p.Lys12Asn)	CSMD3 (K12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078224	NM_198123.2(CSMD3):c.3514A>G (p.Ile1172Val)	CSMD3 (I1132V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078223	NM_198123.2(CSMD3):c.2966A>G (p.Asn989Ser)	CSMD3 (N885S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078222	NM_198123.2(CSMD3):c.2792A>G (p.His931Arg)	CSMD3 (H801R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078221	NM_198123.2(CSMD3):c.2707A>G (p.Ser903Gly)	CSMD3 (S799G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078220	NM_198123.2(CSMD3):c.2423G>A (p.Arg808Gln)	CSMD3 (R704Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078219	NM_198123.2(CSMD3):c.2357C>T (p.Pro786Leu)	CSMD3 (P656L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078217	NM_198123.2(CSMD3):c.1829A>G (p.Glu610Gly)	CSMD3 (E610G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078216	NM_198123.2(CSMD3):c.1688A>G (p.Asn563Ser)	CSMD3 (N433S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078215	NM_198123.2(CSMD3):c.1433G>A (p.Gly478Asp)	CSMD3 (G348D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078214	NM_198123.2(CSMD3):c.1181A>G (p.Gln394Arg)	CSMD3 (Q394R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078213	NM_198123.2(CSMD3):c.10897A>C (p.Ile3633Leu)	CSMD3 (I3433L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078212	NM_198123.2(CSMD3):c.1088C>G (p.Thr363Ser)	CSMD3 (T363S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078211	NM_198123.2(CSMD3):c.10247C>T (p.Thr3416Ile)	CSMD3 (T3247I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078210	NM_198123.2(CSMD3):c.10088A>C (p.Gln3363Pro)	CSMD3 (Q3163P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063047	GRCh37/hg19 8q23.3(chr8:113311613-113358518)x1	CSMD3	Copy number loss	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061006	NM_198123.2(CSMD3):c.9271T>C (p.Ser3091Pro)	CSMD3 (S2891P +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3060958	NM_198123.2(CSMD3):c.10861A>C (p.Asn3621His)	CSMD3 (N3421H +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3060861	NM_198123.2(CSMD3):c.8441-8T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 3060657	NM_198123.2(CSMD3):c.4896-3del	CSMD3	Deletion (intron variant)	CSMD3-related disorder	GBenign
Select item 3060528	NM_198123.2(CSMD3):c.657A>G (p.Ile219Met)	CSMD3 (I179M +1 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3059225	NM_198123.2(CSMD3):c.4896-3_4896-2insT	CSMD3	Insertion (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3058977	NM_198123.2(CSMD3):c.5934+7A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3058894	NM_198123.2(CSMD3):c.6204T>C (p.Tyr2068=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3057640	NM_198123.2(CSMD3):c.2514A>G (p.Gly838=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3057178	NM_198123.2(CSMD3):c.9689-4G>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 3056963	NM_198123.2(CSMD3):c.4928A>G (p.Tyr1643Cys)	CSMD3 (Y1513C +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder +1 more	GLikely benign
Select item 3056930	NM_198123.2(CSMD3):c.11079G>A (p.Ala3693=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3056437	NM_198123.2(CSMD3):c.710-5A>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 3055846	NM_198123.2(CSMD3):c.3005-5T>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 3055693	NM_198123.2(CSMD3):c.5280G>A (p.Ala1760=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3055454	NM_198123.2(CSMD3):c.10674T>C (p.Leu3558=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3052832	NM_198123.2(CSMD3):c.6710G>A (p.Gly2237Asp)	CSMD3 (G2037D +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3051586	NM_198123.2(CSMD3):c.1962T>G (p.Val654=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3051164	NM_198123.2(CSMD3):c.10143A>G (p.Lys3381=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3050633	NM_198123.2(CSMD3):c.8788+5A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3050488	NM_198123.2(CSMD3):c.7098A>G (p.Ser2366=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3050146	NM_198123.2(CSMD3):c.9108A>G (p.Gln3036=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3049823	NM_198123.2(CSMD3):c.8313T>C (p.Ile2771=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3049763	NM_198123.2(CSMD3):c.7634T>C (p.Val2545Ala)	CSMD3 (V2345A +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3049476	NM_198123.2(CSMD3):c.4043-6T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 3048995	NM_198123.2(CSMD3):c.1932C>T (p.Asp644=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3048612	NM_198123.2(CSMD3):c.10111-4A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3048334	NM_198123.2(CSMD3):c.6399C>T (p.Ser2133=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3048103	NM_198123.2(CSMD3):c.5718A>G (p.Pro1906=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3046180	NM_198123.2(CSMD3):c.2842G>A (p.Val948Ile)	CSMD3 (V818I +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GLikely benign
Select item 3045912	NM_198123.2(CSMD3):c.88C>T (p.Leu30=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3045714	NM_198123.2(CSMD3):c.7549+7A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3045296	NM_198123.2(CSMD3):c.6728G>A (p.Gly2243Asp)	CSMD3 (G2043D +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3043856	NM_198123.2(CSMD3):c.8753A>C (p.Asn2918Thr)	CSMD3 (N2718T +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3042999	NM_198123.2(CSMD3):c.5186C>T (p.Ala1729Val)	CSMD3 (A1599V +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GLikely benign
Select item 3042734	NM_198123.2(CSMD3):c.515-8T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3042588	NM_198123.2(CSMD3):c.7384C>A (p.Arg2462=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3041013	NM_198123.2(CSMD3):c.7165+5G>A	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GUncertain significance
Select item 3039597	NM_198123.2(CSMD3):c.8745C>T (p.Cys2915=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3039050	NM_198123.2(CSMD3):c.4602C>T (p.Pro1534=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3038996	NM_198123.2(CSMD3):c.7164C>T (p.His2388=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3038391	NM_198123.2(CSMD3):c.10463T>C (p.Leu3488Pro)	CSMD3 (L3288P +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3037981	NM_198123.2(CSMD3):c.2121T>C (p.Asn707=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3037472	NM_198123.2(CSMD3):c.746G>A (p.Ser249Asn)	CSMD3 (S209N +1 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3035574	NM_198123.2(CSMD3):c.8615-8C>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign

<< First< Prev

Page of 4