"CSMD3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056930	NM_198123.2(CSMD3):c.11079G>A (p.Ala3693=)	CSMD3	Single nucleotide variant (synonymous 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 3055454	NM_198123.2(CSMD3):c.10674T>C (p.Leu3558=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
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 3051164	NM_198123.2(CSMD3):c.10143A>G (p.Lys3381=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3048612	NM_198123.2(CSMD3):c.10111-4A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 718477	NM_198123.2(CSMD3):c.10101C>T (p.Phe3367=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder +1 more	GBenign
Select item 776374	NM_198123.2(CSMD3):c.9852G>A (p.Pro3284=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 785260	NM_198123.2(CSMD3):c.9732G>T (p.Leu3244=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3057178	NM_198123.2(CSMD3):c.9689-4G>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
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 3050146	NM_198123.2(CSMD3):c.9108A>G (p.Gln3036=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 776375	NM_198123.2(CSMD3):c.8998G>C (p.Val3000Leu)	CSMD3 (V2831L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2629932	NM_198123.2(CSMD3):c.8976G>A (p.Met2992Ile)	CSMD3 (M2792I +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3050633	NM_198123.2(CSMD3):c.8788+5A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
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 3039597	NM_198123.2(CSMD3):c.8745C>T (p.Cys2915=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3035574	NM_198123.2(CSMD3):c.8615-8C>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 774463	NM_198123.2(CSMD3):c.8604A>T (p.Pro2868=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3060861	NM_198123.2(CSMD3):c.8441-8T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
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 785879	NM_198123.2(CSMD3):c.8190T>G (p.His2730Gln)	CSMD3 (H2530Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 2658758	NM_198123.2(CSMD3):c.7562A>G (p.Gln2521Arg)	CSMD3 (Q2321R +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder +1 more	GBenign/Likely benign
Select item 3045714	NM_198123.2(CSMD3):c.7549+7A>G	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 3038996	NM_198123.2(CSMD3):c.7164C>T (p.His2388=)	CSMD3	Single nucleotide variant (synonymous 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 3034425	NM_198123.2(CSMD3):c.7071C>T (p.Thr2357=)	CSMD3	Single nucleotide variant (synonymous 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 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 3048334	NM_198123.2(CSMD3):c.6399C>T (p.Ser2133=)	CSMD3	Single nucleotide variant (synonymous 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 3058977	NM_198123.2(CSMD3):c.5934+7A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 785261	NM_198123.2(CSMD3):c.5740A>G (p.Ile1914Val)	CSMD3 (I1874V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 3032395	NM_198123.2(CSMD3):c.5684C>T (p.Ala1895Val)	CSMD3 (A1695V +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3055693	NM_198123.2(CSMD3):c.5280G>A (p.Ala1760=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 776376	NM_198123.2(CSMD3):c.5236G>A (p.Asp1746Asn)	CSMD3 (D1616N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 3056963	NM_198123.2(CSMD3):c.4928A>G (p.Tyr1643Cys)	CSMD3 (Y1513C +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GLikely benign
Select item 3059225	NM_198123.2(CSMD3):c.4896-3_4896-2insT	CSMD3	Insertion (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3060657	NM_198123.2(CSMD3):c.4896-3del	CSMD3	Deletion (intron variant)	CSMD3-related disorder	GBenign
Select item 768255	NM_198123.2(CSMD3):c.4896-3C>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder +1 more	GBenign
Select item 2632218	NM_198123.2(CSMD3):c.4760C>T (p.Pro1587Leu)	CSMD3 (P1457L +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
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 783529	NM_198123.2(CSMD3):c.4521G>A (p.Thr1507=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder +1 more	GBenign
Select item 743642	NM_198123.2(CSMD3):c.4437T>G (p.Asp1479Glu)	CSMD3 (D1349E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 771163	NM_198123.2(CSMD3):c.4419C>T (p.Asp1473=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder +1 more	GBenign/Likely benign
Select item 3049476	NM_198123.2(CSMD3):c.4043-6T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 782278	NM_198123.2(CSMD3):c.3683G>A (p.Arg1228Gln)	CSMD3 (R1098Q +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder +1 more	GLikely benign
Select item 776377	NM_198123.2(CSMD3):c.3075T>C (p.Asp1025=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 789771	NM_198123.2(CSMD3):c.3059G>A (p.Arg1020His)	CSMD3 (R980H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2658763	NM_198123.2(CSMD3):c.3015G>A (p.Val1005=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3055846	NM_198123.2(CSMD3):c.3005-5T>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 772906	NM_198123.2(CSMD3):c.2934T>C (p.Ser978=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 3057640	NM_198123.2(CSMD3):c.2514A>G (p.Gly838=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 3037981	NM_198123.2(CSMD3):c.2121T>C (p.Asn707=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 770195	NM_198123.2(CSMD3):c.2061G>A (p.Arg687=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder +1 more	GBenign/Likely benign
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 3048995	NM_198123.2(CSMD3):c.1932C>T (p.Asp644=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 3034192	NM_198123.2(CSMD3):c.1818C>T (p.Gly606=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 710210	NM_198123.2(CSMD3):c.1803T>C (p.Asp601=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder +1 more	GBenign/Likely benign
Select item 776378	NM_198123.2(CSMD3):c.1494C>T (p.Ile498=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2658765	NM_198123.2(CSMD3):c.1434T>G (p.Gly478=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 732970	NM_198123.2(CSMD3):c.1230G>T (p.Thr410=)	CSMD3	Single nucleotide variant (synonymous variant +1 more)	CSMD3-related disorder +1 more	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 3056437	NM_198123.2(CSMD3):c.710-5A>T	CSMD3	Single nucleotide variant (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 2632328	NM_198123.2(CSMD3):c.631G>C (p.Asp211His)	CSMD3 (D171H +1 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3042734	NM_198123.2(CSMD3):c.515-8T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 709345	NM_198123.2(CSMD3):c.348C>T (p.Tyr116=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3045912	NM_198123.2(CSMD3):c.88C>T (p.Leu30=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign

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Items: 75