2705[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 58230	GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3	CCER1, DCN +11 more	Copy number gain	See cases	GUncertain significance
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
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 310643	NM_001920.5(DCN):c.*443T>G	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310644	NM_001920.5(DCN):c.*377T>C	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GBenign
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 882852	NM_001920.5(DCN):c.*351T>C	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 310645	NM_001920.5(DCN):c.*289A>T	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310646	NM_001920.5(DCN):c.*220G>C	DCN	Single nucleotide variant (3 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310647	NM_001920.5(DCN):c.*160C>T	DCN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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
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 883644	NM_001920.5(DCN):c.*80C>T	DCN	Single nucleotide variant (3 prime UTR variant)	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 883645	NM_001920.5(DCN):c.1066G>A (p.Gly356Arg)	DCN (G169R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 310652	NM_001920.5(DCN):c.975G>A (p.Ser325=)	DCN	Single nucleotide variant (synonymous variant +1 more)	Congenital stromal corneal dystrophy	GBenign
Select item 16870	NM_001920.5(DCN):c.967del (p.Ser323fs)	DCN (S176fs +3 more)	Deletion (frameshift variant +1 more)	Congenital stromal corneal dystrophy	GPathogenic
Select item 126374	NM_001920.5(DCN):c.962del (p.Lys321fs)	DCN (K174fs +3 more)	Deletion (frameshift variant +1 more)	Congenital stromal corneal dystrophy	GPathogenic
Select item 2908085	NM_001920.5(DCN):c.959A>G (p.Lys320Arg)	DCN (K211R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 65663	NM_001920.5(DCN):c.947del (p.Gly316fs)	DCN (G129fs +3 more)	Deletion (frameshift variant +1 more)	Congenital stromal corneal dystrophy	GPathogenic
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 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 21302	NM_001920.5(DCN):c.941del (p.Pro314fs)	DCN (P167fs +3 more)	Deletion (frameshift variant +1 more)	Congenital stromal corneal dystrophy	GPathogenic
Select item 310654	NM_001920.5(DCN):c.917T>C (p.Val306Ala)	DCN (V306A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 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 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 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 2073549	NM_001920.5(DCN):c.798C>G (p.Ala266=)	DCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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	GConflicting classifications of pathogenicity
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	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 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 310658	NM_001920.5(DCN):c.529A>T (p.Ile177Phe)	DCN (I177F)	Single nucleotide variant (missense variant +1 more)	Congenital stromal corneal dystrophy	GBenign
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 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 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 310659	NM_001920.5(DCN):c.424A>G (p.Lys142Glu)	DCN (K142E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 2959672	NM_001920.5(DCN):c.324+19del	DCN	Deletion (intron variant)	not provided	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 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 310661	NM_001920.5(DCN):c.212-6T>C	DCN	Single nucleotide variant (intron variant)	Congenital stromal corneal dystrophy +1 more	GBenign
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 3080555	NM_001920.5(DCN):c.142C>A (p.Pro48Thr)	DCN (P48T)	Single nucleotide variant (missense variant)	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 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 2402806	NM_001920.5(DCN):c.92A>G (p.Asp31Gly)	DCN (D31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 632202	NM_001920.5(DCN):c.47_50del (p.Ala16fs)	DCN (A16fs)	Deletion (frameshift 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 2220822	NM_001920.5(DCN):c.10A>G (p.Thr4Ala)	DCN (T4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 310665	NM_001920.5(DCN):c.-187A>G	DCN	Single nucleotide variant (5 prime UTR variant)	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310666	NM_001920.4(DCN):c.-249A>G	DCN	Single nucleotide variant	Congenital stromal corneal dystrophy	GLikely benign
Select item 310667	NM_001920.4(DCN):c.-296C>T	DCN	Single nucleotide variant	Congenital stromal corneal dystrophy	GLikely benign
Select item 310668	NM_001920.4(DCN):c.-307A>G	DCN	Single nucleotide variant	Congenital stromal corneal dystrophy	GUncertain significance
Select item 310669	NM_001920.4(DCN):c.-325A>G	DCN	Single nucleotide variant	Congenital stromal corneal dystrophy	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, LUM +3 more	Copy number gain	not provided	GUncertain significance
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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253789	GRCh37/hg19 12q21.33(chr12:90910083-91560392)x3	EPYC, LUM +3 more	Copy number gain	See cases	GUncertain significance

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Items: 85