8838[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 145596	GRCh38/hg38 6q21(chr6:111948842-112906602)x3	CCN6, FAM229B +15 more	Copy number gain	See cases	GUncertain significance
Select item 153380	GRCh38/hg38 6q21(chr6:112010915-112244218)x1	CCN6, FAM229B +10 more	Copy number loss	See cases	GUncertain significance
Select item 1267092	NC_000006.12:g.112053865del	CCN6	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 355054	NM_198239.2(CCN6):c.-254A>G	CCN6	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GBenign
Select item 1680451	NM_198239.2(CCN6):c.1A>G (p.Met1Val)	CCN6 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
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 2793088	NM_198239.2(CCN6):c.2T>A (p.Met1Lys)	CCN6 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
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 2583041	NM_198239.2(CCN6):c.6G>C (p.Gln2His)	CCN6 (Q2H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2700332	NM_198239.2(CCN6):c.15C>T (p.Leu5=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1680452	NM_198239.2(CCN6):c.19T>C (p.Ser7Pro)	CCN6 (S7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1030720	NM_198239.2(CCN6):c.29T>C (p.Leu10Pro)	CCN6 (L10P)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GUncertain significance
Select item 1680453	NM_198239.2(CCN6):c.33T>C (p.Leu11=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2445700	NM_198239.2(CCN6):c.40_44del (p.Leu14fs)	CCN6 (L14fs)	Microsatellite (frameshift variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1926271	NM_198239.2(CCN6):c.41T>C (p.Leu14Pro)	CCN6 (L14P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018220	NM_198239.2(CCN6):c.43G>A (p.Ala15Thr)	CCN6 (A15T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 6386	NM_198239.2(CCN6):c.43_44del (p.Ala15fs)	CCN6 (A15fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 6384	NM_198239.2(CCN6):c.48+2dup	CCN6	Duplication (splice donor variant)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 2179684	NM_198239.2(CCN6):c.48+7C>T	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801147	NM_198239.2(CCN6):c.48+8C>T	CCN6	Single nucleotide variant (intron variant)	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 355055	NM_198239.2(CCN6):c.48+13C>T	CCN6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2984502	NM_198239.2(CCN6):c.48+17G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264724	NM_198239.2(CCN6):c.48+36G>A	CCN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1335640	NM_198239.2(CCN6):c.48+229G>A	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 2136453	NM_198239.2(CCN6):c.49-763G>T	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2087816	NM_198239.2(CCN6):c.49-763G>C	CCN6	Single nucleotide variant (intron variant)	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 2788760	NM_198239.2(CCN6):c.49-14A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958502	NM_198239.2(CCN6):c.49-13T>G	CCN6	Single nucleotide variant (intron variant)	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 3008597	NM_198239.2(CCN6):c.49-7A>G	CCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734926	NM_198239.2(CCN6):c.49-1G>A	CCN6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 355056	NM_198239.2(CCN6):c.72T>C (p.Thr24=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 1680455	NM_198239.2(CCN6):c.76C>T (p.Pro26Ser)	CCN6 (P26S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1680454	NM_198239.2(CCN6):c.76C>G (p.Pro26Ala)	CCN6 (P26A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 355057	NM_198239.2(CCN6):c.77C>T (p.Pro26Leu)	CCN6 (P26L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 355058	NM_198239.2(CCN6):c.78A>T (p.Pro26=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1687519	NM_198239.2(CCN6):c.80T>A (p.Leu27Ter)	CCN6 (L27*)	Single nucleotide variant (nonsense +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
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 1680456	NM_198239.2(CCN6):c.86C>T (p.Thr29Ile)	CCN6 (T29I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 355059	NM_198239.2(CCN6):c.91C>A (p.Pro31Thr)	CCN6 (P31T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 2838170	NM_198239.2(CCN6):c.111del (p.Val38fs)	CCN6 (V38fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 3000296	NM_198239.2(CCN6):c.114G>A (p.Val38=)	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 716637	NM_198239.2(CCN6):c.130C>T (p.Arg44Cys)	CCN6 (R44C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 711335	NM_198239.2(CCN6):c.131G>A (p.Arg44His)	CCN6 (R44H)	Single nucleotide variant (missense variant +1 more)	CCN6-related disorder +2 more	GConflicting classifications of pathogenicity
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 1680457	NM_198239.2(CCN6):c.148T>C (p.Trp50Arg)	CCN6 (W50R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1685603	NM_198239.2(CCN6):c.149G>A (p.Trp50Ter)	CCN6 (W50*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 6381	NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)	CCN6 (C52* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases +2 more	GPathogenic/Likely pathogenic
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 355060	NM_198239.2(CCN6):c.168G>T (p.Gln56His)	CCN6 (Q56H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1967964	NM_198239.2(CCN6):c.175C>T (p.Pro59Ser)	CCN6 (P59S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 355061	NM_198239.2(CCN6):c.178C>T (p.Arg60Cys)	CCN6 (R60C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1680458	NM_198239.2(CCN6):c.179G>A (p.Arg60His)	CCN6 (R60H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2734927	NM_198239.2(CCN6):c.185del (p.Pro62fs)	CCN6 (P62fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 355062	NM_198239.2(CCN6):c.183C>T (p.Cys61=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	Progressive pseudorheumatoid dysplasia	GUncertain significance
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 2656856	NM_198239.2(CCN6):c.195G>T (p.Val65=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136454	NM_198239.2(CCN6):c.197G>A (p.Ser66Asn)	CCN6 (S66N)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 2809883	NM_198239.2(CCN6):c.213C>A (p.Gly71=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 597114	NM_198239.2(CCN6):c.219A>T (p.Gly73=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 6382	NM_198239.2(CCN6):c.232T>C (p.Cys78Arg)	CCN6 (C78R)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 631969	NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)	CCN6 (C78Y)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia	GConflicting classifications of pathogenicity
Select item 355063	NM_198239.2(CCN6):c.237C>T (p.Ala79=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	CCN6-related disorder +2 more	GBenign
Select item 1949792	NM_198239.2(CCN6):c.246A>G (p.Pro82=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 6383	NM_198239.2(CCN6):c.246del (p.Glu84fs)	CCN6 (E102fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 638295	NM_198239.2(CCN6):c.248G>A (p.Gly83Glu)	CCN6 (G83E)	Single nucleotide variant (missense variant +1 more)	Progressive pseudorheumatoid dysplasia +1 more	GBenign/Likely benign
Select item 1913840	NM_198239.2(CCN6):c.250G>A (p.Glu84Lys)	CCN6 (E84K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2577398	NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)	CCN6	Indel (non-coding transcript variant +1 more)	Progressive pseudorheumatoid dysplasia	GPathogenic
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 499131	NM_198239.2(CCN6):c.310G>C (p.Val104Leu)	CCN6 (V104L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2106417	NM_198239.2(CCN6):c.324G>T (p.Arg108Ser)	CCN6 (R108S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1680459	NM_198239.2(CCN6):c.326A>C (p.Tyr109Ser)	CCN6 (Y109S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 355064	NM_198239.2(CCN6):c.327C>T (p.Tyr109=)	CCN6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1806635	NM_198239.2(CCN6):c.334G>A (p.Gly112Arg)	CCN6 (G112R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1072578	NM_198239.2(CCN6):c.342T>G (p.Cys114Trp)	CCN6 (C114W)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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