ClinVar for Gene (Select 8838) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338997	NM_198239.2(CCN6):c.625T>A (p.Cys209Ser)	CCN6 (C209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264509	NM_198239.2(CCN6):c.424A>G (p.Ser142Gly)	CCN6 (S142G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3242053	NM_198239.2(CCN6):c.348C>A (p.Tyr116Ter)	CCN6 (Y116*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GLikely pathogenic
Select item 3233835	NM_198239.2(CCN6):c.737T>C (p.Leu246Pro)	CCN6 (L246P)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GLikely pathogenic
Select item 3139847	NM_198239.2(CCN6):c.820C>T (p.Leu274Phe)	CCN6 (L274F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139846	NM_198239.2(CCN6):c.662G>T (p.Arg221Ile)	CCN6 (R221I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139845	NM_198239.2(CCN6):c.637G>A (p.Ala213Thr)	CCN6 (A213T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139844	NM_198239.2(CCN6):c.389A>G (p.His130Arg)	CCN6 (H130R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139843	NM_198239.2(CCN6):c.328G>A (p.Glu110Lys)	CCN6 (E110K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139842	NM_198239.2(CCN6):c.224G>A (p.Cys75Tyr)	CCN6 (C75Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139841	NM_198239.2(CCN6):c.223T>G (p.Cys75Gly)	CCN6 (C75G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062886	GRCh37/hg19 6q21(chr6:112107860-113572662)x1	CCN6, FAM229B +4 more	Copy number loss	not specified	GUncertain significance
Select item 3022477	NM_198239.2(CCN6):c.582A>G (p.Thr194=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020496	NM_198239.2(CCN6):c.346+16T>C	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017351	NM_198239.2(CCN6):c.783+22_783+26del	CCN6	Deletion (intron variant)	not provided	GLikely benign
Select item 3017030	NM_198239.2(CCN6):c.516G>A (p.Lys172=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016487	NM_198239.2(CCN6):c.270C>T (p.Asp90=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014878	NM_198239.2(CCN6):c.784-20C>T	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008597	NM_198239.2(CCN6):c.49-7A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004574	NM_198239.2(CCN6):c.784-10A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004058	NM_198239.2(CCN6):c.590-1G>C	CCN6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3000296	NM_198239.2(CCN6):c.114G>A (p.Val38=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997612	NM_198239.2(CCN6):c.453A>G (p.Gly151=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997387	NM_198239.2(CCN6):c.48+10C>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984502	NM_198239.2(CCN6):c.48+17G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981600	NM_198239.2(CCN6):c.589+19A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981395	NM_198239.2(CCN6):c.93T>C (p.Pro31=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970410	NM_198239.2(CCN6):c.49-19C>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969092	NM_198239.2(CCN6):c.789C>G (p.Pro263=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968839	NM_198239.2(CCN6):c.784-6T>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965704	NM_198239.2(CCN6):c.75A>G (p.Gly25=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965678	NM_198239.2(CCN6):c.116C>A (p.Ser39Ter)	CCN6 (S39*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2958502	NM_198239.2(CCN6):c.49-13T>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956328	NM_198239.2(CCN6):c.49-763G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902108	NM_198239.2(CCN6):c.3G>T (p.Met1Ile)	CCN6 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2882306	NM_198239.2(CCN6):c.756C>T (p.Cys252=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874492	NM_198239.2(CCN6):c.84T>C (p.Asp28=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869490	NM_198239.2(CCN6):c.15C>A (p.Leu5=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869211	NM_198239.2(CCN6):c.49-9C>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866509	NM_198239.2(CCN6):c.784-19A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860288	NM_198239.2(CCN6):c.641_642del (p.Thr214fs)	CCN6 (T214fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2859455	NM_198239.2(CCN6):c.912C>T (p.Cys304=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854098	NM_198239.2(CCN6):c.963T>C (p.Asn321=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850117	NM_198239.2(CCN6):c.165T>C (p.Pro55=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848741	NM_198239.2(CCN6):c.906G>A (p.Lys302=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847757	NM_198239.2(CCN6):c.347-15C>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847078	NM_198239.2(CCN6):c.147C>T (p.His49=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839235	NM_198239.2(CCN6):c.629_630del (p.Leu210fs)	CCN6 (L210fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2838170	NM_198239.2(CCN6):c.111del (p.Val38fs)	CCN6 (V38fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2834069	NM_198239.2(CCN6):c.589+20T>C	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826781	NM_198239.2(CCN6):c.732A>G (p.Lys244=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822161	NM_198239.2(CCN6):c.927G>A (p.Lys309=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809883	NM_198239.2(CCN6):c.213C>A (p.Gly71=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803165	NM_198239.2(CCN6):c.2T>C (p.Met1Thr)	CCN6 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2801147	NM_198239.2(CCN6):c.48+8C>T	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800734	NM_198239.2(CCN6):c.210T>C (p.Asp70=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796152	NM_198239.2(CCN6):c.1008G>A (p.Val336=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793088	NM_198239.2(CCN6):c.2T>A (p.Met1Lys)	CCN6 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2788760	NM_198239.2(CCN6):c.49-14A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788502	NM_198239.2(CCN6):c.195G>A (p.Val65=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786730	NM_198239.2(CCN6):c.309A>G (p.Ser103=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781871	NM_198239.2(CCN6):c.777A>G (p.Thr259=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778486	NM_198239.2(CCN6):c.357T>A (p.Ala119=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776801	NM_198239.2(CCN6):c.346+8TCT[2]	CCN6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2763062	NM_198239.2(CCN6):c.589+7A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757227	NM_198239.2(CCN6):c.381A>G (p.Val127=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755608	NM_198239.2(CCN6):c.590-11C>T	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752914	NM_198239.2(CCN6):c.921T>C (p.Pro307=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751934	NM_198239.2(CCN6):c.999A>G (p.Thr333=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751379	NM_198239.2(CCN6):c.867G>A (p.Gln289=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749701	NM_198239.2(CCN6):c.789C>T (p.Pro263=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2747614	NM_198239.2(CCN6):c.990G>C (p.Leu330=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2744738	NM_198239.2(CCN6):c.347-4T>C	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734934	NM_198239.2(CCN6):c.866dup (p.Ser290fs)	CCN6 (S290fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2734933	NM_198239.2(CCN6):c.857C>G (p.Ser286Ter)	CCN6 (S286*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2734932	NM_198239.2(CCN6):c.756C>A (p.Cys252Ter)	CCN6 (C252*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2734931	NM_198239.2(CCN6):c.725_726del (p.Lys242fs)	CCN6 (K242fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2734930	NM_198239.2(CCN6):c.624del (p.Lys208fs)	CCN6 (K208fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2734929	NM_198239.2(CCN6):c.433T>C (p.Cys145Arg)	CCN6 (C145R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2734928	NM_198239.2(CCN6):c.327C>A (p.Tyr109Ter)	CCN6 (Y109*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2734927	NM_198239.2(CCN6):c.185del (p.Pro62fs)	CCN6 (P62fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2734926	NM_198239.2(CCN6):c.49-1G>A	CCN6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2722525	NM_198239.2(CCN6):c.156C>T (p.Cys52=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717154	NM_198239.2(CCN6):c.930T>C (p.Ser310=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2708532	NM_198239.2(CCN6):c.90A>G (p.Thr30=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2702050	NM_198239.2(CCN6):c.378G>A (p.Gln126=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2701536	NM_198239.2(CCN6):c.28C>T (p.Leu10=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2700332	NM_198239.2(CCN6):c.15C>T (p.Leu5=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696811	NM_198239.2(CCN6):c.346+17G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695044	NM_198239.2(CCN6):c.111A>G (p.Glu37=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2694816	NM_198239.2(CCN6):c.738G>A (p.Leu246=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693488	NM_198239.2(CCN6):c.473dup (p.Leu160fs)	CCN6 (L160fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2656858	NM_198239.2(CCN6):c.804C>T (p.Cys268=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656857	NM_198239.2(CCN6):c.397C>G (p.Gln133Glu)	CCN6 (Q133E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656856	NM_198239.2(CCN6):c.195G>T (p.Val65=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636177	NM_198239.2(CCN6):c.621_622delinsT (p.Lys207fs)	CCN6 (K207fs)	Indel (frameshift variant +1 more)	CCN6-related disorder	GPathogenic
Select item 2613578	NM_198239.2(CCN6):c.217G>A (p.Gly73Arg)	CCN6 (G73R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2583041	NM_198239.2(CCN6):c.6G>C (p.Gln2His)	CCN6 (Q2H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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