"Ambry Genetics"[submitter] AND "COP1"[gene] - ClinVar

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

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147959	NM_022457.7(COP1):c.2140A>C (p.Asn714His)	COP1 (N714H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147958	NM_022457.7(COP1):c.2043T>A (p.Asp681Glu)	COP1 (D657E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147956	NM_022457.7(COP1):c.1963A>G (p.Ile655Val)	COP1 (I631V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147955	NM_022457.7(COP1):c.1952A>G (p.Asn651Ser)	COP1 (N651S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147952	NM_022457.7(COP1):c.1775T>G (p.Ile592Ser)	COP1 (I592S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147951	NM_022457.7(COP1):c.1483G>A (p.Val495Ile)	COP1 (V495I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147950	NM_022457.7(COP1):c.1298G>A (p.Cys433Tyr)	COP1 (C409Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147949	NM_022457.7(COP1):c.1256A>G (p.Asn419Ser)	COP1 (N179S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530270	NM_022457.7(COP1):c.1151G>A (p.Arg384Gln)	COP1 (R360Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147948	NM_022457.7(COP1):c.1139C>T (p.Ser380Leu)	COP1 (S356L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147947	NM_022457.7(COP1):c.1030A>G (p.Lys344Glu)	COP1 (K320E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608221	NM_022457.7(COP1):c.996C>A (p.Ser332Arg)	COP1 (S332R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147969	NM_022457.7(COP1):c.983C>A (p.Ser328Tyr)	COP1 (S328Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601352	NM_022457.7(COP1):c.911C>G (p.Ser304Cys)	COP1 (S280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147968	NM_022457.7(COP1):c.863T>A (p.Val288Asp)	COP1 (V288D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268936	NM_022457.7(COP1):c.821A>G (p.Asn274Ser)	COP1 (N270S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147967	NM_022457.7(COP1):c.787A>G (p.Ile263Val)	COP1 (I23V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147966	NM_022457.7(COP1):c.746A>G (p.Lys249Arg)	COP1 (K245R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539721	NM_022457.7(COP1):c.661A>G (p.Ile221Val)	COP1 (I221V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147965	NM_022457.7(COP1):c.599T>C (p.Phe200Ser)	COP1 (F200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147964	NM_022457.7(COP1):c.529G>A (p.Val177Met)	COP1 (V177M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470986	NM_022457.7(COP1):c.392G>A (p.Ser131Asn)	COP1 (S131N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147962	NM_022457.7(COP1):c.350C>T (p.Ala117Val)	COP1 (A117V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147961	NM_022457.7(COP1):c.287G>C (p.Ser96Thr)	COP1 (S96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147960	NM_022457.7(COP1):c.251C>T (p.Thr84Met)	COP1, LOC129931972 (T84M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147957	NM_022457.7(COP1):c.202G>A (p.Val68Met)	COP1, LOC129931972 (V68M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147954	NM_022457.7(COP1):c.188G>A (p.Gly63Asp)	COP1, LOC129931972 (G63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147953	NM_022457.7(COP1):c.182T>G (p.Leu61Arg)	COP1, LOC129931972 (L61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147946	NM_022457.7(COP1):c.101C>T (p.Ser34Phe)	COP1, LOC129931972 (S34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147963	NM_022457.7(COP1):c.44G>A (p.Ser15Asn)	COP1, LOC129931972 (S15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464831	NM_022457.7(COP1):c.31T>A (p.Ser11Thr)	COP1, LOC129931972 (S11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542379	NM_022457.7(COP1):c.20C>T (p.Ala7Val)	COP1, LOC129931972 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32