"Ambry Genetics"[submitter] AND "CCN4"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473320	NM_003882.4(CCN4):c.28G>A (p.Ala10Thr)	CCN4 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473321	NM_003882.4(CCN4):c.29C>A (p.Ala10Glu)	CCN4 (A10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473322	NM_003882.4(CCN4):c.34G>A (p.Val12Met)	CCN4 (V12M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139809	NM_003882.4(CCN4):c.38C>T (p.Thr13Ile)	CCN4 (T13I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139821	NM_003882.4(CCN4):c.58G>A (p.Val20Ile)	CCN4 (V20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139807	NM_003882.4(CCN4):c.188C>T (p.Pro63Leu)	CCN4 (P63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264502	NM_003882.4(CCN4):c.323C>T (p.Pro108Leu)	CCN4 (P108L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139808	NM_003882.4(CCN4):c.335T>G (p.Ile112Arg)	CCN4 (I112R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591123	NM_003882.4(CCN4):c.370G>A (p.Val124Ile)	CCN4 (V124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264500	NM_003882.4(CCN4):c.401A>G (p.Gln134Arg)	CCN4 (Q134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139810	NM_003882.4(CCN4):c.445G>A (p.Gly149Ser)	CCN4 (G149S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264498	NM_003882.4(CCN4):c.476G>A (p.Arg159Gln)	CCN4 (R159Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139811	NM_003882.4(CCN4):c.481C>T (p.Arg161Cys)	CCN4 (R161C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139812	NM_003882.4(CCN4):c.488C>T (p.Pro163Leu)	CCN4 (P163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570188	NM_003882.4(CCN4):c.490C>T (p.Arg164Cys)	CCN4 (R164C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139813	NM_003882.4(CCN4):c.491G>A (p.Arg164His)	CCN4 (R164H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139814	NM_003882.4(CCN4):c.509C>T (p.Pro170Leu)	CCN4 (P170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455330	NM_003882.4(CCN4):c.512G>A (p.Arg171Gln)	CCN4 (R171Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139815	NM_003882.4(CCN4):c.515G>A (p.Arg172His)	CCN4 (R172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139816	NM_003882.4(CCN4):c.524T>A (p.Ile175Lys)	CCN4 (I175K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492653	NM_003882.4(CCN4):c.538T>G (p.Cys180Gly)	CCN4 (C180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139818	NM_003882.4(CCN4):c.556G>A (p.Glu186Lys)	CCN4 (E186K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623636	NM_003882.4(CCN4):c.574C>T (p.Pro192Ser)	CCN4 (P192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588515	NM_003882.4(CCN4):c.577C>A (p.Arg193Ser)	CCN4 (R193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139819	NM_003882.4(CCN4):c.578G>T (p.Arg193Leu)	CCN4 (R193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139820	NM_003882.4(CCN4):c.586G>A (p.Ala196Thr)	CCN4 (A196T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264499	NM_003882.4(CCN4):c.601G>A (p.Gly201Arg)	CCN4 (G201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139822	NM_003882.4(CCN4):c.620G>A (p.Gly207Asp)	CCN4 (G120D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139823	NM_003882.4(CCN4):c.645C>G (p.Asn215Lys)	CCN4 (N215K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139824	NM_003882.4(CCN4):c.691G>A (p.Gly231Ser)	CCN4 (G144S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264504	NM_003882.4(CCN4):c.740C>T (p.Pro247Leu)	CCN4 (P247L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139825	NM_003882.4(CCN4):c.770G>A (p.Arg257Gln)	CCN4 (R170Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139826	NM_003882.4(CCN4):c.863C>T (p.Ala288Val)	CCN4 (A288V +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2537413	NM_003882.4(CCN4):c.925T>C (p.Cys309Arg)	CCN4 (C64R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3264501	NM_003882.4(CCN4):c.958G>A (p.Val320Met)	CCN4 (V75M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139827	NM_003882.4(CCN4):c.970T>C (p.Cys324Arg)	CCN4 (C237R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139805	NM_003882.4(CCN4):c.1044T>A (p.Asn348Lys)	CCN4 (N103K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139806	NM_003882.4(CCN4):c.1050T>G (p.Asn350Lys)	CCN4 (N263K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 38