"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CSMD3"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658756	NM_198123.2(CSMD3):c.10740+7A>G	CSMD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658757	NM_198123.2(CSMD3):c.8328A>G (p.Ser2776=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658758	NM_198123.2(CSMD3):c.7562A>G (p.Gln2521Arg)	CSMD3 (Q2321R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2658759	NM_198123.2(CSMD3):c.5809+1del	CSMD3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2658760	NM_198123.2(CSMD3):c.5655A>G (p.Arg1885=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658761	NM_198123.2(CSMD3):c.4452A>G (p.Glu1484=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658762	NM_198123.2(CSMD3):c.4315C>T (p.Leu1439=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782278	NM_198123.2(CSMD3):c.3683G>A (p.Arg1228Gln)	CSMD3 (R1098Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2658763	NM_198123.2(CSMD3):c.3015G>A (p.Val1005=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related condition +1 more	GBenign/Likely benign
Select item 770195	NM_198123.2(CSMD3):c.2061G>A (p.Arg687=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2658764	NM_198123.2(CSMD3):c.2014T>G (p.Tyr672Asp)	CSMD3 (Y542D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2658766	NM_198123.2(CSMD3):c.39A>T (p.Glu13Asp)	CSMD3 (E13D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic