CRELD1

CRELD disulfide isomerase 1

Summary

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

Known Variants140 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs279551	3:9,975,353	A/G	—	benign
rs2270894	3:9,975,386	C/G	—	benign
rs59211226	3:9,975,572	C/T	—	benign
rs9853613	3:9,975,860	T/C	—	benign
rs57022843	3:9,976,018	G/T	—	benign
rs760082913	3:9,976,155	A/G	—	likely benign
rs279552	3:9,976,159	A/G	missense variant	benign
rs765033469	3:9,976,169	G/A	—	uncertain significance
rs1403824321	3:9,976,188	C/T	—	likely benign
rs1350862535	3:9,976,202	T/G	—	uncertain significance
rs199599039	3:9,976,215	C/T	—	likely benign
rs770083161	3:9,976,217	C/T	—	uncertain significance
rs2470476491	3:9,976,237	C/T	—	uncertain significance
rs374955769	3:9,976,241	C/G	—	uncertain significance
rs2125328927	3:9,976,258	T/G	—	uncertain significance
rs781144506	3:9,976,307	C/T	—	likely benign
rs956604786	3:9,976,500	A/G	—	likely benign
rs746207786	3:9,976,559	A/G	—	uncertain significance
rs2470480014	3:9,976,567	T/C	—	pathogenic
rs1427385729	3:9,976,576	G/C	—	uncertain significance
rs372016350	3:9,976,578	G/T	—	uncertain significance
rs146680338	3:9,976,611	T/G	—	benign
rs3901800	3:9,976,864	T/C	—	benign
rs117956843	3:9,979,233	C/A	—	likely benign
rs372228097	3:9,979,239	C/T	—	likely benign
rs573320219	3:9,979,240	G/A	—	likely benign
rs771889462	3:9,979,252	C/T	—	likely benign
rs760693953	3:9,979,254	G/A	—	uncertain significance
rs1470049739	3:9,979,276	T/C	—	likely benign
rs375840562	3:9,979,298	G/A	—	uncertain significance
rs781628094	3:9,979,300	G/A	—	likely benign
rs756789276	3:9,979,307	C/T	—	uncertain significance
rs28941780	3:9,979,308	G/A	missense variant	pathogenic
rs1206951397	3:9,979,345	G/A	—	uncertain significance
rs1348100827	3:9,979,363	G/A	—	likely benign
rs2302786	3:9,979,660	A/G	—	benign
rs200797264	3:9,979,696	C/T	—	likely benign
rs2302787	3:9,979,713	C/G	—	benign
rs762892698	3:9,979,720	C/G	—	likely benign
rs1456816694	3:9,979,760	C/G	—	uncertain significance
rs750003238	3:9,979,762	C/T	—	likely benign
rs200737884	3:9,979,763	G/A	—	uncertain significance
rs754616906	3:9,979,771	C/T	—	likely benign
rs747855475	3:9,979,775	G/A	—	uncertain significance
rs1002124262	3:9,979,786	C/T	—	likely benign
rs746095271	3:9,979,790	C/T	—	uncertain significance
rs7627326	3:9,981,734	G/C	—	—
rs7650290	3:9,981,913	C/A	—	—
rs375279562	3:9,982,317	A/G	—	benign
rs55862344	3:9,982,445	A/G	—	benign
rs121912626	3:9,982,557	C/G	missense variant	risk factor
rs775546357	3:9,982,563	G/A	—	uncertain significance
rs146437600	3:9,982,571	C/T	—	likely benign
rs774018674	3:9,982,596	C/T	—	pathogenic
rs759093681	3:9,982,597	G/A	—	uncertain significance
rs146750560	3:9,982,634	C/T	—	likely benign
rs371891133	3:9,982,635	G/A	—	uncertain significance
rs2124849361	3:9,982,638	G/A	—	uncertain significance
rs201866563	3:9,982,648	G/A	—	conflicting classifications of pathogenicity
rs2470508449	3:9,982,660	G/T	—	pathogenic
rs143534215	3:9,982,673	T/C	—	likely benign
rs760277160	3:9,982,684	G/A	—	uncertain significance
rs763753944	3:9,982,686	A/G	—	uncertain significance
rs200024536	3:9,982,689	G/A	—	benign
rs138336691	3:9,982,708	C/T	—	uncertain significance
rs143811769	3:9,982,709	G/A	—	likely benign
rs567980866	3:9,982,730	G/A	—	benign
rs1433259474	3:9,982,815	C/T	—	conflicting classifications of pathogenicity
rs138925944	3:9,982,816	G/A	—	conflicting classifications of pathogenicity
rs1334728818	3:9,982,818	T/C	—	uncertain significance
rs1234487889	3:9,982,823	A/G	—	likely benign
rs751636782	3:9,982,856	G/C	—	conflicting classifications of pathogenicity
rs1295164618	3:9,982,869	C/T	—	likely benign
rs911089166	3:9,982,883	G/T	—	uncertain significance
rs374989836	3:9,982,899	G/A	—	likely benign
rs538348962	3:9,982,906	G/A	—	benign
rs2470515247	3:9,984,501	T/G	—	uncertain significance
rs2470515280	3:9,984,507	G/A	—	likely benign
rs2124858642	3:9,984,547	T/C	—	conflicting classifications of pathogenicity
rs369721468	3:9,984,569	A/G	—	uncertain significance
rs983476737	3:9,984,771	G/A	—	likely benign
rs1230049119	3:9,984,789	G/T	—	uncertain significance
rs2470516831	3:9,984,791	G/C	—	uncertain significance
rs1408230289	3:9,984,800	C/G	—	uncertain significance
rs746951044	3:9,984,806	G/T	—	pathogenic
rs2085415399	3:9,984,817	T/C	—	uncertain significance
rs79223485	3:9,984,855	C/T	—	benign
rs772094283	3:9,984,856	G/A	—	uncertain significance
rs2085417080	3:9,984,861	G/A	—	uncertain significance
rs773216920	3:9,985,056	C/T	—	likely benign
rs771099812	3:9,985,063	A/C	—	uncertain significance
rs370824760	3:9,985,075	G/A	—	likely benign
rs28942092	3:9,985,083	C/T	missense variant	likely benign
rs753734694	3:9,985,089	T/C	—	uncertain significance
rs76764016	3:9,985,096	G/A	—	benign
rs754728781	3:9,985,123	C/A	—	uncertain significance
rs755981922	3:9,985,124	G/A	—	uncertain significance
rs374333743	3:9,985,129	C/A	—	benign
rs771191734	3:9,985,130	G/A	—	uncertain significance
rs1460929476	3:9,985,134	A/G	—	uncertain significance

Showing 100 of 140 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.