CCN3[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139802	NM_002514.4(CCN3):c.5A>G (p.Gln2Arg)	CCN3 (Q2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264495	NM_002514.4(CCN3):c.20C>A (p.Thr7Lys)	CCN3 (T7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139798	NM_002514.4(CCN3):c.20C>T (p.Thr7Met)	CCN3 (T7M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775267	NM_002514.4(CCN3):c.44G>T (p.Cys15Phe)	CCN3 (C15F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3139795	NM_002514.4(CCN3):c.139C>T (p.Pro47Ser)	CCN3 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139796	NM_002514.4(CCN3):c.182G>T (p.Cys61Phe)	CCN3 (C61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139797	NM_002514.4(CCN3):c.206G>A (p.Arg69His)	CCN3 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139799	NM_002514.4(CCN3):c.254G>A (p.Ser85Asn)	CCN3 (S85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721280	NM_002514.4(CCN3):c.291C>A (p.Asn97Lys)	CCN3 (N97K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2545365	NM_002514.4(CCN3):c.332T>A (p.Val111Glu)	CCN3 (V111E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139800	NM_002514.4(CCN3):c.431G>C (p.Cys144Ser)	CCN3 (C144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139801	NM_002514.4(CCN3):c.445C>G (p.Leu149Val)	CCN3 (L149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510048	NM_002514.4(CCN3):c.559G>T (p.Ala187Ser)	CCN3 (A187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207907	NM_002514.4(CCN3):c.605C>G (p.Ser202Ter)	CCN3 (S202*)	Single nucleotide variant (nonsense)	Long QT syndrome	GLikely benign
Select item 3264496	NM_002514.4(CCN3):c.667G>A (p.Gly223Arg)	CCN3 (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264497	NM_002514.4(CCN3):c.697C>T (p.Arg233Cys)	CCN3 (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139803	NM_002514.4(CCN3):c.896G>A (p.Arg299His)	CCN3 (R299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139804	NM_002514.4(CCN3):c.953G>A (p.Gly318Glu)	CCN3 (G318E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563449	GRCh37/hg19 8q24.12(chr8:120327858-120517165)x1	CCN3	Copy number loss	not provided	GUncertain significance