ClinVar for MedGen (Select 400601) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25808511.	NM_001920.5(DCN):c.1036T>G (p.Cys346Gly) GRCh37: Chr12:91539879 GRCh38: Chr12:91146102	DCN	C159G, C199G, C237G, C346G	Congenital stromal corneal dystrophy	not provided	no assertion provided
Select item 8836452.	NM_001920.5(DCN):c.1066G>A (p.Gly356Arg) GRCh37: Chr12:91539849 GRCh38: Chr12:91146072	DCN	G169R, G209R, G247R, G356R	Congenital stromal corneal dystrophy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8836443.	NM_001920.5(DCN):c.*80C>T GRCh37: Chr12:91539755 GRCh38: Chr12:91145978	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8828534.	NM_001920.5(DCN):c.*341A>G GRCh37: Chr12:91539494 GRCh38: Chr12:91145717	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8828525.	NM_001920.5(DCN):c.*351T>C GRCh37: Chr12:91539484 GRCh38: Chr12:91145707	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8828516.	NM_001920.5(DCN):c.*354A>G GRCh37: Chr12:91539481 GRCh38: Chr12:91145704	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8817527.	NM_001920.5(DCN):c.127G>A (p.Asp43Asn) GRCh37: Chr12:91572203 GRCh38: Chr12:91178426	DCN	D43N	Congenital stromal corneal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8817518.	NM_001920.5(DCN):c.210G>A (p.Leu70=) GRCh37: Chr12:91572120 GRCh38: Chr12:91178343	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 8817029.	NM_001920.5(DCN):c.*566T>A GRCh37: Chr12:91539269 GRCh38: Chr12:91145492	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88130010.	NM_001920.5(DCN):c.555G>T (p.Pro185=) GRCh37: Chr12:91550949 GRCh38: Chr12:91157172	DCN		Congenital stromal corneal dystrophy	Likely benign (Mar 6, 2018)	criteria provided, single submitter
Select item 88129911.	NM_001920.5(DCN):c.560A>G (p.Lys187Arg) GRCh37: Chr12:91550944 GRCh38: Chr12:91157167	DCN	K187R, K78R	Congenital stromal corneal dystrophy	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88129812.	NM_001920.5(DCN):c.632A>G (p.Asn211Ser) GRCh37: Chr12:91550872 GRCh38: Chr12:91157095	DCN	N211S, N102S	Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88129713.	NM_001920.5(DCN):c.671C>T (p.Thr224Met) GRCh37: Chr12:91546948 GRCh38: Chr12:91153171	DCN	T77M, T115M, T224M	Inborn genetic diseases, Congenital stromal corneal dystrophy	Conflicting interpretations of pathogenicity (Aug 2, 2021)	criteria provided, conflicting interpretations
Select item 73096114.	NM_001920.5(DCN):c.703A>C (p.Arg235=) GRCh37: Chr12:91546916 GRCh38: Chr12:91153139	DCN		not provided, Congenital stromal corneal dystrophy	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 63220215.	NM_001920.5(DCN):c.47_50del (p.Ala16fs) GRCh37: Chr12:91572280-91572283 GRCh38: Chr12:91178503-91178506	DCN	A16fs	Congenital stromal corneal dystrophy	Uncertain significance (Dec 25, 2018)	criteria provided, single submitter
Select item 31066916.	NM_001920.4(DCN):c.-325A>G GRCh37: Chr12:91576723 GRCh38: Chr12:91182946	DCN		Congenital stromal corneal dystrophy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31066817.	NM_001920.4(DCN):c.-307A>G GRCh37: Chr12:91576705 GRCh38: Chr12:91182928	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31066718.	NM_001920.4(DCN):c.-296C>T GRCh37: Chr12:91576694 GRCh38: Chr12:91182917	DCN		Congenital stromal corneal dystrophy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31066619.	NM_001920.4(DCN):c.-249A>G GRCh37: Chr12:91576647 GRCh38: Chr12:91182870	DCN		Congenital stromal corneal dystrophy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31066520.	NM_001920.5(DCN):c.-187A>G GRCh37: Chr12:91576585 GRCh38: Chr12:91182808	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31066421.	NM_001920.5(DCN):c.-180A>T GRCh37: Chr12:91576578 GRCh38: Chr12:91182801	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31066322.	NM_001920.5(DCN):c.33A>G (p.Ala11=) GRCh37: Chr12:91572297 GRCh38: Chr12:91178520	DCN		not provided, Congenital stromal corneal dystrophy	Benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31066223.	NM_001920.5(DCN):c.54G>A (p.Pro18=) GRCh37: Chr12:91572276 GRCh38: Chr12:91178499	DCN		not provided, Congenital stromal corneal dystrophy	Benign/Likely benign (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31066124.	NM_001920.5(DCN):c.212-6T>C GRCh37: Chr12:91558500 GRCh38: Chr12:91164723	DCN		not provided, Congenital stromal corneal dystrophy	Benign (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31066025.	NM_001920.5(DCN):c.282C>T (p.Thr94=) GRCh37: Chr12:91558424 GRCh38: Chr12:91164647	DCN		Congenital stromal corneal dystrophy, not provided	Benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31065926.	NM_001920.5(DCN):c.424A>G (p.Lys142Glu) GRCh37: Chr12:91552187 GRCh38: Chr12:91158410	DCN	K142E	Congenital stromal corneal dystrophy, not provided	Benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31065827.	NM_001920.5(DCN):c.529A>T (p.Ile177Phe) GRCh37: Chr12:91552082 GRCh38: Chr12:91158305	DCN	I177F	Congenital stromal corneal dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31065728.	NM_001920.5(DCN):c.621T>G (p.Ile207Met) GRCh37: Chr12:91550883 GRCh38: Chr12:91157106	DCN	I207M, I98M	Congenital stromal corneal dystrophy	Conflicting interpretations of pathogenicity (May 7, 2021)	criteria provided, conflicting interpretations
Select item 31065629.	NM_001920.5(DCN):c.803C>T (p.Thr268Met) GRCh37: Chr12:91545513 GRCh38: Chr12:91151736	DCN	T268M, T121M, T159M	Congenital stromal corneal dystrophy, not provided	Benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31065530.	NM_001920.5(DCN):c.879C>T (p.Tyr293=) GRCh37: Chr12:91545437 GRCh38: Chr12:91151660	DCN		Congenital stromal corneal dystrophy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31065431.	NM_001920.5(DCN):c.917T>C (p.Val306Ala) GRCh37: Chr12:91539998 GRCh38: Chr12:91146221	DCN	V306A, V119A, V159A, V197A	Congenital stromal corneal dystrophy, not provided	Benign (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31065332.	NM_001920.5(DCN):c.944C>A (p.Pro315His) GRCh37: Chr12:91539971 GRCh38: Chr12:91146194	DCN	P315H, P128H, P168H, P206H	Congenital stromal corneal dystrophy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31065233.	NM_001920.5(DCN):c.975G>A (p.Ser325=) GRCh37: Chr12:91539940 GRCh38: Chr12:91146163	DCN		Congenital stromal corneal dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31065134.	NM_001920.5(DCN):c.1062A>T (p.Gln354His) GRCh37: Chr12:91539853 GRCh38: Chr12:91146076	DCN	Q354H, Q167H, Q245H, Q207H	Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31065035.	NM_001920.5(DCN):c.*51A>G GRCh37: Chr12:91539784 GRCh38: Chr12:91146007	DCN		Congenital stromal corneal dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31064936.	NM_001920.5(DCN):c.*105G>A GRCh37: Chr12:91539730 GRCh38: Chr12:91145953	DCN		Congenital stromal corneal dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31064837.	NM_001920.5(DCN):c.*148T>G GRCh37: Chr12:91539687 GRCh38: Chr12:91145910	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31064738.	NM_001920.5(DCN):c.*160C>T GRCh37: Chr12:91539675 GRCh38: Chr12:91145898	DCN		Congenital stromal corneal dystrophy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31064639.	NM_001920.5(DCN):c.*220G>C GRCh37: Chr12:91539615 GRCh38: Chr12:91145838	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31064540.	NM_001920.5(DCN):c.*289A>T GRCh37: Chr12:91539546 GRCh38: Chr12:91145769	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31064441.	NM_001920.5(DCN):c.*377T>C GRCh37: Chr12:91539458 GRCh38: Chr12:91145681	DCN		Congenital stromal corneal dystrophy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31064342.	NM_001920.5(DCN):c.*443T>G GRCh37: Chr12:91539392 GRCh38: Chr12:91145615	DCN		Congenital stromal corneal dystrophy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 12637443.	NM_001920.5(DCN):c.962del (p.Lys321fs) GRCh37: Chr12:91539953 GRCh38: Chr12:91146176	DCN	K174fs, K212fs, K134fs, K321fs	Congenital stromal corneal dystrophy	Pathogenic (Mar 1, 2014)	no assertion criteria provided
Select item 6566344.	NM_001920.5(DCN):c.947del (p.Gly316fs) GRCh37: Chr12:91539968 GRCh38: Chr12:91146191	DCN	G129fs, G207fs, G316fs, G169fs	Congenital stromal corneal dystrophy	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 2130245.	NM_001920.5(DCN):c.941del (p.Pro314fs) GRCh37: Chr12:91539974 GRCh38: Chr12:91146197	DCN	P167fs, P314fs, P205fs, P127fs	Congenital stromal corneal dystrophy	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 1687046.	NM_001920.5(DCN):c.967del (p.Ser323fs) GRCh37: Chr12:91539948 GRCh38: Chr12:91146171	DCN	S176fs, S214fs, S323fs, S136fs	Congenital stromal corneal dystrophy	Pathogenic (Sep 1, 2006)	no assertion criteria provided

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Items: 46