ClinVar for Gene (Select 1634) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4840748	NM_001920.5(DCN):c.238C>G (p.Pro80Ala)	DCN (P80A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4832134	NM_001920.5(DCN):c.236T>C (p.Leu79Pro)	DCN (L79P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4814126	NM_001920.5(DCN):c.793del (p.Leu265fs)	DCN (L118fs +2 more)	Deletion (frameshift variant +1 more)	Congenital stromal corneal dystrophy	GLikely pathogenic
Select item 4713387	NM_001920.5(DCN):c.566C>T (p.Ser189Leu)	DCN (S80L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4708887	NM_001920.5(DCN):c.236T>G (p.Leu79Arg)	DCN (L79R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4698613	NM_001920.5(DCN):c.321T>C (p.Leu107=)	DCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4617006	NM_001920.5(DCN):c.628A>G (p.Thr210Ala)	DCN (T101A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4617005	NM_001920.5(DCN):c.808C>T (p.His270Tyr)	DCN (H123Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4389823	NM_001920.5(DCN):c.324+5G>T	DCN	Single nucleotide variant (intron variant)	Not Specified
Select item 4389822	NM_001920.5(DCN):c.538+76A>G	DCN	Single nucleotide variant (intron variant)	Not Specified
Select item 4389821	NM_001920.5(DCN):c.886-9A>T	DCN	Single nucleotide variant (intron variant)	Not Specified
Select item 4238147	NM_001920.5(DCN):c.778G>A (p.Val260Ile)	DCN (V113I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4238146	NM_001920.5(DCN):c.197A>C (p.Gln66Pro)	DCN (Q66P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4238145	NM_001920.5(DCN):c.146C>A (p.Ser49Tyr)	DCN (S49Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4238143	NM_001920.5(DCN):c.995A>T (p.Asn332Ile)	DCN (N223I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4238142	NM_001920.5(DCN):c.188G>C (p.Arg63Pro)	DCN (R63P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4238141	NM_001920.5(DCN):c.712G>A (p.Ala238Thr)	DCN (A238T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4238140	NM_001920.5(DCN):c.133G>A (p.Asp45Asn)	DCN (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4009817	NM_001920.5(DCN):c.884A>G (p.Gln295Arg)	DCN (Q186R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4009816	NM_001920.5(DCN):c.486C>G (p.Ile162Met)	DCN (I162M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4009814	NM_001920.5(DCN):c.91G>A (p.Asp31Asn)	DCN (D31N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4009813	NM_001920.5(DCN):c.119T>C (p.Val40Ala)	DCN (V40A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4009812	NM_001920.5(DCN):c.592G>A (p.Gly198Arg)	DCN (G198R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4009811	NM_001920.5(DCN):c.169C>T (p.Arg57Cys)	DCN (R57C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3838584	NM_001920.5(DCN):c.1049G>A (p.Arg350His)	DCN (R203H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3838582	NM_001920.5(DCN):c.323A>G (p.His108Arg)	DCN (H108R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3838581	NM_001920.5(DCN):c.643A>G (p.Ile215Val)	DCN (I215V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3659938	NM_001920.5(DCN):c.1065C>T (p.Leu355=)	DCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3605758	NM_001920.5(DCN):c.211+9G>T	DCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3500124	NM_001920.5(DCN):c.602A>C (p.Lys201Thr)	DCN (K201T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3500123	NM_001920.5(DCN):c.448A>C (p.Lys150Gln)	DCN (K150Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3500122	NM_001920.5(DCN):c.929G>A (p.Ser310Asn)	DCN (S123N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3500121	NM_001920.5(DCN):c.433C>T (p.Pro145Ser)	DCN (P145S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3500120	NM_001920.5(DCN):c.719G>C (p.Ser240Thr)	DCN (S131T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3500119	NM_001920.5(DCN):c.121C>T (p.Pro41Ser)	DCN (P41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3500118	NM_001920.5(DCN):c.895C>T (p.Leu299Phe)	DCN (P74L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271099	NM_001920.5(DCN):c.865G>A (p.Ala289Thr)	DCN (A142T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271098	NM_001920.5(DCN):c.510C>G (p.Phe170Leu)	DCN (F170L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271097	NM_001920.5(DCN):c.385G>A (p.Val129Met)	DCN (V129M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271096	NM_001920.5(DCN):c.512A>G (p.Asn171Ser)	DCN (N171S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080556	NM_001920.5(DCN):c.878A>G (p.Tyr293Cys)	DCN (Y146C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080555	NM_001920.5(DCN):c.142C>A (p.Pro48Thr)	DCN (P48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053697	NM_001920.5(DCN):c.1050C>A (p.Arg350=)	DCN	Single nucleotide variant (synonymous variant +1 more)	DCN-related disorder	GLikely benign
Select item 2959672	NM_001920.5(DCN):c.324+19del	DCN	Deletion (intron variant)	not provided	GBenign
Select item 2908085	NM_001920.5(DCN):c.959A>G (p.Lys320Arg)	DCN (K211R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2616989	NM_001920.5(DCN):c.1048C>T (p.Arg350Cys)	DCN (R203C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616108	NM_001920.5(DCN):c.658C>T (p.Pro220Ser)	DCN (P111S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609572	NM_001920.5(DCN):c.1014G>C (p.Glu338Asp)	DCN (E151D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607693	NM_001920.5(DCN):c.554C>T (p.Pro185Leu)	DCN (P76L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580851	NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)	DCN (C159G +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy	Gnot provided
Select item 2542060	NM_001920.5(DCN):c.941C>T (p.Pro314Leu)	DCN (P127L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494705	NM_001920.5(DCN):c.437A>G (p.Glu146Gly)	DCN (E146G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486596	NM_001920.5(DCN):c.638C>T (p.Thr213Ile)	DCN (T104I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402806	NM_001920.5(DCN):c.92A>G (p.Asp31Gly)	DCN (D31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304904	NM_001920.5(DCN):c.233A>T (p.Asp78Val)	DCN (D78V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302363	NM_001920.5(DCN):c.1045G>A (p.Val349Met)	DCN (V162M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245169	NM_001920.5(DCN):c.1033A>G (p.Arg345Gly)	DCN (R158G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232169	NM_001920.5(DCN):c.130C>G (p.Arg44Gly)	DCN (R44G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225443	NM_001920.5(DCN):c.697A>G (p.Ile233Val)	DCN (I124V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220822	NM_001920.5(DCN):c.10A>G (p.Thr4Ala)	DCN (T4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2099010	NM_001920.5(DCN):c.856G>A (p.Gly286Ser)	DCN (G177S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2073549	NM_001920.5(DCN):c.798C>G (p.Ala266=)	DCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 980450	GRCh37/hg19 12q21.33(chr12:90629021-91543515)x3	CCER1, DCN +3 more	Copy number gain	not provided	GUncertain significance
Select item 883645	NM_001920.5(DCN):c.1066G>A (p.Gly356Arg)	DCN (G169R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 883644	NM_001920.5(DCN):c.*80C>T	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 882853	NM_001920.5(DCN):c.*341A>G	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 882852	NM_001920.5(DCN):c.*351T>C	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 882851	NM_001920.5(DCN):c.*354A>G	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 881752	NM_001920.5(DCN):c.127G>A (p.Asp43Asn)	DCN (D43N)	Single nucleotide variant (missense variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 881751	NM_001920.5(DCN):c.210G>A (p.Leu70=)	DCN	Single nucleotide variant (synonymous variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 881702	NM_001920.5(DCN):c.*566T>A	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 881300	NM_001920.5(DCN):c.555G>T (p.Pro185=)	DCN	Single nucleotide variant (synonymous variant +1 more)	Congenital stromal corneal dystrophy	GLikely benign
Select item 881299	NM_001920.5(DCN):c.560A>G (p.Lys187Arg)	DCN (K187R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GUncertain significance
Select item 881298	NM_001920.5(DCN):c.632A>G (p.Asn211Ser)	DCN (N211S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 881297	NM_001920.5(DCN):c.671C>T (p.Thr224Met)	DCN (T77M +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 730961	NM_001920.5(DCN):c.703A>C (p.Arg235=)	DCN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	ATP2B1, C12orf50 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442370	GRCh37/hg19 12q21.33(chr12:90881837-91582957)x1	CCER1, DCN +3 more	Copy number loss	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	ZNF740, ZNF84 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	AAAS, A2M +1006 more	Copy number gain	See cases	GPathogenic
Select item 310665	NM_001920.5(DCN):c.-187A>G	DCN	Single nucleotide variant (5 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310664	NM_001920.5(DCN):c.-180A>T	DCN	Single nucleotide variant (5 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310663	NM_001920.5(DCN):c.33A>G (p.Ala11=)	DCN	Single nucleotide variant (synonymous variant)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310662	NM_001920.5(DCN):c.54G>A (p.Pro18=)	DCN	Single nucleotide variant (synonymous variant)	Congenital stromal corneal dystrophy +1 more	GBenign/Likely benign
Select item 310661	NM_001920.5(DCN):c.212-6T>C	DCN	Single nucleotide variant (intron variant)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310660	NM_001920.5(DCN):c.282C>T (p.Thr94=)	DCN	Single nucleotide variant (synonymous variant +1 more)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310659	NM_001920.5(DCN):c.424A>G (p.Lys142Glu)	DCN (K142E)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310658	NM_001920.5(DCN):c.529A>T (p.Ile177Phe)	DCN (I177F)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310657	NM_001920.5(DCN):c.621T>G (p.Ile207Met)	DCN (I207M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 310656	NM_001920.5(DCN):c.803C>T (p.Thr268Met)	DCN (T268M +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310655	NM_001920.5(DCN):c.879C>T (p.Tyr293=)	DCN	Single nucleotide variant (synonymous variant +1 more)	Congenital stromal corneal dystrophy	GLikely benign
Select item 310654	NM_001920.5(DCN):c.917T>C (p.Val306Ala)	DCN (V306A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310653	NM_001920.5(DCN):c.944C>A (p.Pro315His)	DCN (P315H +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy	GLikely benign
Select item 310652	NM_001920.5(DCN):c.975G>A (p.Ser325=)	DCN	Single nucleotide variant (synonymous variant +1 more)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310651	NM_001920.5(DCN):c.1062A>T (p.Gln354His)	DCN (Q354H +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310650	NM_001920.5(DCN):c.*51A>G	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy +1 more	GBenign
Select item 310649	NM_001920.5(DCN):c.*105G>A	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GBenign
Select item 310648	NM_001920.5(DCN):c.*148T>G	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance

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