"Revvity Omics, Revvity"[submitter] AND "CSMD1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688887	NM_033225.6(CSMD1):c.10429T>A (p.Ser3477Thr)	CSMD1, LOC105377785 (S3477T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688891	NM_033225.6(CSMD1):c.10231C>G (p.Leu3411Val)	CSMD1, LOC105377785 (L3411V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688890	NM_033225.6(CSMD1):c.10040-3C>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688882	NM_033225.6(CSMD1):c.9562G>C (p.Val3188Leu)	CSMD1, LOC105377785 (V3188L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688878	NM_033225.6(CSMD1):c.9466G>A (p.Gly3156Arg)	LOC105377785, CSMD1 (G3156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688879	NM_033225.6(CSMD1):c.9134A>G (p.Asn3045Ser)	CSMD1, LOC105377785 (N3045S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688885	NM_033225.6(CSMD1):c.8807T>C (p.Phe2936Ser)	CSMD1, LOC105377785 (F2936S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688874	NM_033225.6(CSMD1):c.8282A>G (p.Asn2761Ser)	CSMD1, LOC105377785 (N2761S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688877	NM_033225.6(CSMD1):c.6523C>T (p.Leu2175Phe)	CSMD1 (L2175F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688876	NM_033225.6(CSMD1):c.6427G>A (p.Asp2143Asn)	CSMD1 (D2143N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688872	NM_033225.6(CSMD1):c.6173A>T (p.His2058Leu)	CSMD1 (H2058L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606855	NM_033225.6(CSMD1):c.6029A>G (p.Tyr2010Cys)	CSMD1 (Y2010C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2688875	NM_033225.6(CSMD1):c.5668C>G (p.Leu1890Val)	CSMD1 (L1890V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688873	NM_033225.6(CSMD1):c.5498T>C (p.Ile1833Thr)	CSMD1 (I1833T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2688889	NM_033225.6(CSMD1):c.2986G>A (p.Val996Ile)	CSMD1 (V996I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688884	NM_033225.6(CSMD1):c.2900-2A>C	CSMD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2688881	NM_033225.6(CSMD1):c.2377G>C (p.Gly793Arg)	CSMD1 (G793R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688892	NM_033225.6(CSMD1):c.2335A>C (p.Lys779Gln)	CSMD1 (K779Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688888	NM_033225.6(CSMD1):c.1916C>T (p.Ala639Val)	CSMD1 (A639V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688886	NM_033225.6(CSMD1):c.1681G>C (p.Gly561Arg)	CSMD1 (G561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688880	NM_033225.6(CSMD1):c.1615A>C (p.Thr539Pro)	CSMD1 (T539P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688883	NM_033225.6(CSMD1):c.536G>T (p.Gly179Val)	CSMD1 (G179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 22