NDP

norrin cystine knot growth factor NDP

Summary

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

Known Variants127 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3747350	X:43,808,330	A/G	—	likely benign
rs73475744	X:43,809,031	C/T	—	conflicting classifications of pathogenicity
rs140653237	X:43,809,035	G/C	—	benign
rs372300274	X:43,809,042	G/T	—	uncertain significance
rs2035749589	X:43,809,054	G/T	—	likely pathogenic
rs1256956156	X:43,809,058	T/C	—	uncertain significance
rs2035749634	X:43,809,059	C/A	—	likely pathogenic
rs778584609	X:43,809,060	C/T	—	benign
rs756474198	X:43,809,062	C/T	—	conflicting classifications of pathogenicity
rs104894873	X:43,809,063	G/A	synonymous variant	likely benign
rs28933684	X:43,809,077	G/A	missense variant	pathogenic
rs2519314807	X:43,809,079	A/T	—	likely pathogenic
rs794727478	X:43,809,082	T/C	—	uncertain significance
rs1232013505	X:43,809,084	C/A	—	likely benign
rs137852220	X:43,809,085	C/A	missense variant	pathogenic
rs104894878	X:43,809,086	G/A	missense variant	pathogenic
rs2147204677	X:43,809,092	T/G	—	likely pathogenic
rs1302861734	X:43,809,101	G/A	—	uncertain significance
rs779079304	X:43,809,104	G/A	—	pathogenic
rs1048545964	X:43,809,109	C/T	—	likely pathogenic
rs1377624685	X:43,809,111	C/T	—	likely benign
rs2519314892	X:43,809,112	C/T	—	pathogenic
rs2147204715	X:43,809,118	C/A	—	likely pathogenic
rs104894876	X:43,809,119	A/C	missense variant	pathogenic
rs1352453369	X:43,809,121	C/T	—	uncertain significance
rs886043023	X:43,809,122	G/A	stop gained	pathogenic
rs1057518836	X:43,809,133	G/A	missense variant	pathogenic
rs104894875	X:43,809,134	C/T	missense variant	pathogenic
rs2519314939	X:43,809,137	T/A	—	pathogenic
rs1235711153	X:43,809,140	G/C	—	likely pathogenic
rs104894883	X:43,809,145	G/A	missense variant	pathogenic
rs2519314969	X:43,809,152	G/A	—	pathogenic
rs2519314974	X:43,809,154	G/C	—	uncertain significance
rs104894877	X:43,809,159	G/C	missense variant	pathogenic
rs104894871	X:43,809,160	C/T	missense variant	pathogenic
rs2147204773	X:43,809,170	A/G	—	uncertain significance
rs2519315017	X:43,809,171	G/A	—	likely benign
rs772386222	X:43,809,173	A/T	—	uncertain significance
rs104894867	X:43,809,178	C/T	missense variant	pathogenic
rs1057518793	X:43,809,179	G/A	missense variant	pathogenic
rs1057520333	X:43,809,180	G/C	missense variant	pathogenic
rs727504030	X:43,809,181	A/G	—	uncertain significance
rs2519315046	X:43,809,185	G/T	—	uncertain significance
rs2035750926	X:43,809,189	C/A	—	uncertain significance
rs2035751096	X:43,809,198	A/G	—	likely benign
rs2035751126	X:43,809,204	G/C	—	uncertain significance
rs2147204801	X:43,809,205	A/G	—	likely pathogenic
rs1569243966	X:43,809,208	G/A	—	uncertain significance
rs1434496333	X:43,809,218	G/T	—	uncertain significance
rs1176378943	X:43,809,221	C/T	—	uncertain significance
rs765170187	X:43,809,222	G/A	—	likely benign
rs104894868	X:43,809,223	G/C	missense variant	pathogenic
rs727504031	X:43,809,227	G/A	missense variant	pathogenic
rs104894882	X:43,809,229	G/T	stop gained	pathogenic
rs772656121	X:43,809,231	C/T	—	likely benign
rs2519315125	X:43,809,234	C/T	—	likely benign
rs2035751690	X:43,809,237	G/A	—	likely benign
rs104894872	X:43,809,241	C/G	missense variant	pathogenic
rs762479420	X:43,809,243	G/A	—	likely benign
rs1460859456	X:43,809,247	C/A	—	likely pathogenic
rs2147204853	X:43,809,248	C/A	—	pathogenic
rs2147204856	X:43,809,251	C/A	—	pathogenic
rs757962845	X:43,809,252	G/A	—	likely benign
rs751217173	X:43,809,261	C/A	—	likely benign
rs2147204870	X:43,809,262	A/G	—	not provided
rs104894880	X:43,809,266	G/A	missense variant	pathogenic
rs104894869	X:43,809,268	A/T	missense variant	pathogenic
rs1221510546	X:43,809,278	G/A	—	likely benign
rs2519315260	X:43,809,292	T/C	—	likely benign
rs73475745	X:43,809,465	G/T	—	likely benign
rs112278531	X:43,817,676	T/C	—	benign
rs1341241903	X:43,817,704	G/A	—	likely benign
rs1351729523	X:43,817,706	C/T	—	likely benign
rs1227849127	X:43,817,707	C/A	—	likely benign
rs773171999	X:43,817,708	T/C	—	likely benign
rs762426277	X:43,817,711	G/A	—	likely benign
rs1555977105	X:43,817,713	C/G	—	uncertain significance
rs2519320420	X:43,817,717	C/T	—	pathogenic
rs2147209153	X:43,817,718	C/A	—	uncertain significance
rs2519320427	X:43,817,719	T/C	—	uncertain significance
rs1569245603	X:43,817,721	T/A	—	likely benign
rs201271933	X:43,817,727	A/G	—	benign
rs2519320442	X:43,817,728	C/T	—	uncertain significance
rs762339635	X:43,817,735	A/G	—	uncertain significance
rs886043097	X:43,817,737	A/T	stop gained	pathogenic
rs137852221	X:43,817,758	A/T	missense variant	pathogenic
rs104894870	X:43,817,761	T/C	missense variant	pathogenic
rs104894874	X:43,817,767	T/C	missense variant	pathogenic
rs2519320503	X:43,817,774	T/C	—	likely pathogenic
rs2147209194	X:43,817,779	C/T	—	uncertain significance
rs758550101	X:43,817,780	G/A	—	pathogenic
rs1424333066	X:43,817,782	C/T	—	uncertain significance
rs398123283	X:43,817,783	G/A	stop gained	pathogenic
rs779934385	X:43,817,790	C/T	—	likely benign
rs144031424	X:43,817,791	G/A	—	conflicting classifications of pathogenicity
rs146445684	X:43,817,800	A/T	—	conflicting classifications of pathogenicity
rs2519320563	X:43,817,805	T/C	—	likely benign
rs747904096	X:43,817,808	G/C	—	uncertain significance
rs2035808802	X:43,817,812	T/C	—	uncertain significance
rs1447367005	X:43,817,814	C/T	—	likely benign

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.