IQCE[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2406915	NM_152558.5(IQCE):c.64T>C (p.Phe22Leu)	IQCE (F22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358592	NM_152558.5(IQCE):c.125C>T (p.Ser42Leu)	IQCE (S26L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684526	NM_152558.5(IQCE):c.212G>A (p.Arg71Gln)	IQCE (R6Q +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7	GBenign
Select item 3286353	NM_152558.5(IQCE):c.227C>T (p.Pro76Leu)	IQCE (P60L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657234	NM_152558.5(IQCE):c.249C>T (p.Thr83=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300116	NM_152558.5(IQCE):c.395-10G>C	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 437834	NM_152558.5(IQCE):c.395-1G>A	IQCE	Single nucleotide variant (splice acceptor variant)	Polydactyly, postaxial, type a7	GPathogenic
Select item 3110434	NM_152558.5(IQCE):c.404C>A (p.Pro135His)	IQCE (P70H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1300117	NM_152558.5(IQCE):c.405T>C (p.Pro135=)	IQCE	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7	GBenign
Select item 3110435	NM_152558.5(IQCE):c.432A>C (p.Glu144Asp)	IQCE (E128D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1300118	NM_152558.5(IQCE):c.465+11G>A	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 2406889	NM_152558.5(IQCE):c.506C>T (p.Thr169Met)	IQCE (T104M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477684	NM_152558.5(IQCE):c.518G>T (p.Arg173Leu)	IQCE (R157L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871385	NM_152558.5(IQCE):c.572_579+1del	IQCE	Deletion (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 2594669	NM_152558.5(IQCE):c.574A>G (p.Ser192Gly)	IQCE (S127G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389571	NM_152558.5(IQCE):c.578G>A (p.Arg193His)	IQCE (R128H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048135	NM_152558.5(IQCE):c.624C>T (p.Ala208=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3286355	NM_152558.5(IQCE):c.640G>C (p.Gly214Arg)	IQCE (G214R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040127	NM_152558.5(IQCE):c.690C>T (p.Asp230=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 2291882	NM_152558.5(IQCE):c.699C>G (p.Ile233Met)	IQCE (I217M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044277	NM_152558.5(IQCE):c.702C>G (p.Ser234Arg)	IQCE (S169R +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GLikely benign
Select item 2485024	NM_152558.5(IQCE):c.724A>G (p.Thr242Ala)	IQCE (T177A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275013	NM_152558.5(IQCE):c.731A>G (p.Asn244Ser)	IQCE (N179S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286350	NM_152558.5(IQCE):c.745C>T (p.Arg249Trp)	IQCE (R184W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1300119	NM_152558.5(IQCE):c.774+8G>A	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 783484	NM_152558.5(IQCE):c.774+10G>A	IQCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717857	NM_152558.5(IQCE):c.786C>G (p.Leu262=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2257584	NM_152558.5(IQCE):c.808G>A (p.Glu270Lys)	IQCE (E270K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713897	NM_152558.5(IQCE):c.816C>T (p.Thr272=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2266189	NM_152558.5(IQCE):c.818G>C (p.Gly273Ala)	IQCE (G273A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286356	NM_152558.5(IQCE):c.821A>G (p.Lys274Arg)	IQCE (K209R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342736	NM_152558.5(IQCE):c.825-8T>G	IQCE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1300120	NM_152558.5(IQCE):c.825-4C>T	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 770734	NM_152558.5(IQCE):c.831G>A (p.Leu277=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251061	NM_152558.5(IQCE):c.835G>A (p.Glu279Lys)	IQCE (E263K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673097	NM_152558.5(IQCE):c.849C>T (p.Gly283=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029029	NM_152558.5(IQCE):c.865A>T (p.Lys289Ter)	IQCE (K224* +2 more)	Single nucleotide variant (nonsense)	IQCE-related disorder	GUncertain significance
Select item 783485	NM_152558.5(IQCE):c.879C>T (p.Ala293=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 638149	NM_152558.5(IQCE):c.895_904del (p.Val301fs)	IQCE (V285fs +2 more)	Deletion (frameshift variant)	Syndactyly +4 more	GPathogenic
Select item 3110436	NM_152558.5(IQCE):c.896G>A (p.Arg299Gln)	IQCE (R283Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328119	NM_152558.5(IQCE):c.914C>T (p.Thr305Met)	IQCE (T240M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548108	NM_152558.5(IQCE):c.921G>C (p.Glu307Asp)	IQCE (E291D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519289	NM_152558.5(IQCE):c.926A>T (p.Gln309Leu)	IQCE (Q309L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325088	NM_152558.5(IQCE):c.938A>G (p.Glu313Gly)	IQCE (E297G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782485	NM_152558.5(IQCE):c.949C>T (p.Arg317Cys)	IQCE (R252C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2301524	NM_152558.5(IQCE):c.1013G>A (p.Arg338Gln)	IQCE (R338Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037466	NM_152558.5(IQCE):c.1022G>A (p.Arg341Lys)	IQCE (R276K +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 2486655	NM_152558.5(IQCE):c.1024C>T (p.Arg342Cys)	IQCE (R342C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588443	NM_152558.5(IQCE):c.1025G>T (p.Arg342Leu)	IQCE (R326L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604618	NM_152558.5(IQCE):c.1065C>G (p.Ser355Arg)	IQCE (S355R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786103	NM_152558.5(IQCE):c.1111T>C (p.Cys371Arg)	IQCE (C371R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3286348	NM_152558.5(IQCE):c.1144C>A (p.Pro382Thr)	IQCE (P317T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039032	NM_152558.5(IQCE):c.1148G>T (p.Arg383Leu)	IQCE (R318L +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 2468557	NM_152558.5(IQCE):c.1156C>T (p.Arg386Cys)	IQCE (R321C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783486	NM_152558.5(IQCE):c.1164G>A (p.Lys388=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110415	NM_152558.5(IQCE):c.1171G>A (p.Glu391Lys)	IQCE (E326K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788417	NM_152558.5(IQCE):c.1175G>A (p.Arg392His)	IQCE (R327H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037323	NM_152558.5(IQCE):c.1179C>G (p.Leu393=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3350769	NM_152558.5(IQCE):c.1180C>T (p.Arg394Ter)	IQCE (R329* +2 more)	Single nucleotide variant (nonsense)	IQCE-related disorder	GLikely pathogenic
Select item 3110416	NM_152558.5(IQCE):c.1187C>T (p.Ala396Val)	IQCE (A331V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657235	NM_152558.5(IQCE):c.1198C>T (p.Leu400=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110417	NM_152558.5(IQCE):c.1210C>T (p.Arg404Trp)	IQCE (R339W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056377	NM_152558.5(IQCE):c.1233G>A (p.Leu411=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GBenign
Select item 2302563	NM_152558.5(IQCE):c.1239G>C (p.Gln413His)	IQCE (Q348H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319491	NM_152558.5(IQCE):c.1307G>C (p.Arg436Thr)	IQCE (R371T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522174	NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter)	IQCE (R445* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 638150	NM_152558.5(IQCE):c.1350_1353del	IQCE	Microsatellite (splice acceptor variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 3110418	NM_152558.5(IQCE):c.1354G>C (p.Glu452Gln)	IQCE (E387Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711869	NM_152558.5(IQCE):c.1365A>G (p.Thr455=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2322049	NM_152558.5(IQCE):c.1384G>A (p.Glu462Lys)	IQCE (E397K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034330	NM_152558.5(IQCE):c.1425G>A (p.Pro475=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 2524225	NM_152558.5(IQCE):c.1435C>T (p.His479Tyr)	IQCE (H463Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398512	NM_152558.5(IQCE):c.1479C>G (p.His493Gln)	IQCE (H428Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513193	NM_152558.5(IQCE):c.1505C>G (p.Ser502Cys)	IQCE (S437C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248244	NM_152558.5(IQCE):c.1523C>T (p.Pro508Leu)	IQCE (P492L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782486	NM_152558.5(IQCE):c.1531C>T (p.Arg511Cys)	IQCE (R495C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2510126	NM_152558.5(IQCE):c.1532G>A (p.Arg511His)	IQCE (R446H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709084	NM_152558.5(IQCE):c.1533C>T (p.Arg511=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2359176	NM_152558.5(IQCE):c.1562C>T (p.Ala521Val)	IQCE (A456V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310972	NM_152558.5(IQCE):c.1595T>G (p.Val532Gly)	IQCE (V467G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110419	NM_152558.5(IQCE):c.1604A>C (p.His535Pro)	IQCE (H470P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259392	NM_152558.5(IQCE):c.1605C>A (p.His535Gln)	IQCE (H470Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352690	NM_152558.5(IQCE):c.1609-6_1609-5dup	IQCE	Duplication (intron variant)	IQCE-related disorder	GLikely benign
Select item 1300121	NM_152558.5(IQCE):c.1609-5dup	IQCE	Duplication (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 3065859	NM_152558.5(IQCE):c.1616dup (p.Ala540fs)	IQCE (A475fs +2 more)	Duplication (frameshift variant)	Polydactyly, postaxial, type a7	GLikely pathogenic
Select item 3035295	NM_152558.5(IQCE):c.1635G>A (p.Ala545=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 1300122	NM_152558.5(IQCE):c.1637C>T (p.Ala546Val)	IQCE (A481V +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7	GBenign
Select item 3044958	NM_152558.5(IQCE):c.1641G>T (p.Val547=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 2294497	NM_152558.5(IQCE):c.1655C>G (p.Ala552Gly)	IQCE (A487G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110421	NM_152558.5(IQCE):c.1676G>A (p.Arg559Gln)	IQCE (R543Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621297	NM_152558.5(IQCE):c.1697A>G (p.Lys566Arg)	IQCE (K550R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783487	NM_152558.5(IQCE):c.1707C>T (p.Gly569=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2569687	NM_152558.5(IQCE):c.1723G>A (p.Val575Met)	IQCE (V559M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1300123	NM_152558.5(IQCE):c.1725G>T (p.Val575=)	IQCE	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7	GBenign
Select item 3110422	NM_152558.5(IQCE):c.1741C>G (p.Gln581Glu)	IQCE (Q516E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723192	NM_152558.5(IQCE):c.1743+8C>T	IQCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 871386	NM_152558.5(IQCE):c.1756C>T (p.Pro586Ser)	IQCE (P570S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3110423	NM_152558.5(IQCE):c.1759C>T (p.Arg587Cys)	IQCE (R522C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1300124	NM_152558.5(IQCE):c.1760G>A (p.Arg587His)	IQCE (R522H +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7	GBenign
Select item 3110424	NM_152558.5(IQCE):c.1778C>T (p.Ala593Val)	IQCE (A593V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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