Related gene-specific medical variations for Gene (Select 64326) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3063177	GRCh37/hg19 1q25.1-25.2(chr1:175999385-176105676)x1	COP1	Copy number loss	not specified	GUncertain significance
Select item 3062800	GRCh37/hg19 1q25.1-25.2(chr1:175917018-176316555)x1	COP1	Copy number loss	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
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 814143	GRCh37/hg19 1q25.1-25.2(chr1:175926347-176214557)x1	COP1	Copy number loss	not provided	GUncertain significance