1634[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85