MOCS3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2904660	NM_014484.5(MOCS3):c.1A>C (p.Met1Leu)	MOCS3 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1407205	NM_014484.5(MOCS3):c.1A>G (p.Met1Val)	MOCS3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1520498	NM_014484.5(MOCS3):c.2T>C (p.Met1Thr)	MOCS3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430839	NM_014484.5(MOCS3):c.4G>T (p.Ala2Ser)	MOCS3 (A2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620581	NM_014484.5(MOCS3):c.6T>C (p.Ala2=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880694	NM_014484.5(MOCS3):c.8C>T (p.Ser3Phe)	MOCS3 (S3F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076146	NM_014484.5(MOCS3):c.8C>G (p.Ser3Cys)	MOCS3 (S3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740148	NM_014484.5(MOCS3):c.11G>A (p.Arg4Gln)	MOCS3 (R4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1092009	NM_014484.5(MOCS3):c.21A>C (p.Val7=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2993670	NM_014484.5(MOCS3):c.27C>T (p.Ala9=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356730	NM_014484.5(MOCS3):c.32A>G (p.Gln11Arg)	MOCS3 (Q11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445787	NM_014484.5(MOCS3):c.47A>G (p.Gln16Arg)	MOCS3 (Q16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416213	NM_014484.5(MOCS3):c.48A>C (p.Gln16His)	MOCS3 (Q16H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979712	NM_014484.5(MOCS3):c.54G>A (p.Glu18=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1497183	NM_014484.5(MOCS3):c.58G>A (p.Glu20Lys)	MOCS3 (E20K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533842	NM_014484.5(MOCS3):c.69G>T (p.Ser23=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413556	NM_014484.5(MOCS3):c.76C>T (p.Gln26Ter)	MOCS3 (Q26*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1597176	NM_014484.5(MOCS3):c.81G>A (p.Lys27=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909479	NM_014484.5(MOCS3):c.82C>T (p.Leu28=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739459	NM_014484.5(MOCS3):c.85G>A (p.Ala29Thr)	MOCS3 (A29T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1371864	NM_014484.5(MOCS3):c.85G>T (p.Ala29Ser)	MOCS3 (A29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971202	NM_014484.5(MOCS3):c.86C>G (p.Ala29Gly)	MOCS3 (A29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692698	NM_014484.5(MOCS3):c.90G>C (p.Ser30=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1509817	NM_014484.5(MOCS3):c.94C>G (p.Leu32Val)	MOCS3 (L32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370236	NM_014484.5(MOCS3):c.109G>C (p.Glu37Gln)	MOCS3 (E37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997158	NM_014484.5(MOCS3):c.114G>A (p.Pro38=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462022	NM_014484.5(MOCS3):c.119C>A (p.Pro40Gln)	MOCS3 (P40Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904884	NM_014484.5(MOCS3):c.124C>T (p.Arg42Trp)	MOCS3 (R42W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861958	NM_014484.5(MOCS3):c.149C>A (p.Pro50Gln)	MOCS3 (P50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883707	NM_014484.5(MOCS3):c.153G>A (p.Pro51=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717641	NM_014484.5(MOCS3):c.160G>T (p.Ala54Ser)	MOCS3 (A54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538986	NM_014484.5(MOCS3):c.163C>T (p.Leu55=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012540	NM_014484.5(MOCS3):c.170G>T (p.Arg57Leu)	MOCS3 (R57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428533	NM_014484.5(MOCS3):c.187T>C (p.Tyr63His)	MOCS3 (Y63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295512	NM_014484.5(MOCS3):c.188A>G (p.Tyr63Cys)	MOCS3 (Y63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3009971	NM_014484.5(MOCS3):c.193C>T (p.Arg65Trp)	MOCS3 (R65W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024976	NM_014484.5(MOCS3):c.196C>T (p.Gln66Ter)	MOCS3 (Q66*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1635067	NM_014484.5(MOCS3):c.204G>C (p.Val68=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652922	NM_014484.5(MOCS3):c.210C>T (p.Pro70=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969089	NM_014484.5(MOCS3):c.213G>T (p.Glu71Asp)	MOCS3 (E71D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446090	NM_014484.5(MOCS3):c.217G>C (p.Gly73Arg)	MOCS3 (G73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086230	NM_014484.5(MOCS3):c.219C>T (p.Gly73=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501846	NM_014484.5(MOCS3):c.224A>T (p.His75Leu)	MOCS3 (H75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424307	NM_014484.5(MOCS3):c.226G>C (p.Gly76Arg)	MOCS3 (G76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628517	NM_014484.5(MOCS3):c.249G>A (p.Ala83=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824126	NM_014484.5(MOCS3):c.276del (p.Leu93fs)	MOCS3 (L93fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1565470	NM_014484.5(MOCS3):c.276G>A (p.Gly92=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3190382	NM_014484.5(MOCS3):c.290T>C (p.Leu97Pro)	MOCS3 (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188871	NM_014484.5(MOCS3):c.293C>T (p.Ala98Val)	MOCS3 (A98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839545	NM_014484.5(MOCS3):c.308C>A (p.Ala103Glu)	MOCS3 (A103E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438777	NM_014484.5(MOCS3):c.310G>T (p.Ala104Ser)	MOCS3 (A104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649956	NM_014484.5(MOCS3):c.312C>G (p.Ala104=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424555	NM_014484.5(MOCS3):c.316G>T (p.Val106Leu)	MOCS3 (V106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594017	NM_014484.5(MOCS3):c.321C>G (p.Gly107=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355621	NM_014484.5(MOCS3):c.325C>G (p.Leu109Val)	MOCS3 (L109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387430	NM_014484.5(MOCS3):c.331C>G (p.Leu111Val)	MOCS3 (L111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593043	NM_014484.5(MOCS3):c.345C>T (p.Asp115=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111376	NM_014484.5(MOCS3):c.350T>C (p.Val117Ala)	MOCS3 (V117A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486983	NM_014484.5(MOCS3):c.362A>T (p.Asn121Ile)	MOCS3 (N121I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937480	NM_014484.5(MOCS3):c.363C>T (p.Asn121=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347081	NM_014484.5(MOCS3):c.374A>T (p.Gln125Leu)	MOCS3 (Q125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520579	NM_014484.5(MOCS3):c.376G>A (p.Val126Met)	MOCS3 (V126M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652053	NM_014484.5(MOCS3):c.378G>A (p.Val126=)	MOCS3	Single nucleotide variant (synonymous variant)	MOCS3-related disorder +1 more	GLikely benign
Select item 1450405	NM_014484.5(MOCS3):c.391G>A (p.Ala131Thr)	MOCS3 (A131T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1428605	NM_014484.5(MOCS3):c.391G>T (p.Ala131Ser)	MOCS3 (A131S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2820858	NM_014484.5(MOCS3):c.392C>T (p.Ala131Val)	MOCS3 (A131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794119	NM_014484.5(MOCS3):c.412G>A (p.Ala138Thr)	MOCS3 (A138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842938	NM_014484.5(MOCS3):c.413C>G (p.Ala138Gly)	MOCS3 (A138G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631053	NM_014484.5(MOCS3):c.441C>T (p.Arg147=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018100	NM_014484.5(MOCS3):c.444C>T (p.Leu148=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391963	NM_014484.5(MOCS3):c.446A>G (p.Asn149Ser)	MOCS3 (N149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504285	NM_014484.5(MOCS3):c.451G>A (p.Ala151Thr)	MOCS3 (A151T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830855	NM_014484.5(MOCS3):c.462C>A (p.Cys154Ter)	MOCS3 (C154*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1561431	NM_014484.5(MOCS3):c.465G>A (p.Val155=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367052	NM_014484.5(MOCS3):c.467C>G (p.Pro156Arg)	MOCS3 (P156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362128	NM_014484.5(MOCS3):c.467C>T (p.Pro156Leu)	MOCS3 (P156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184941	NM_014484.5(MOCS3):c.470A>C (p.Tyr157Ser)	MOCS3 (Y157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810850	NM_014484.5(MOCS3):c.471C>G (p.Tyr157Ter)	MOCS3 (Y157*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2093879	NM_014484.5(MOCS3):c.472A>T (p.Thr158Ser)	MOCS3 (T158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449149	NM_014484.5(MOCS3):c.472A>G (p.Thr158Ala)	MOCS3 (T158A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1394929	NM_014484.5(MOCS3):c.472A>C (p.Thr158Pro)	MOCS3 (T158P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390076	NM_014484.5(MOCS3):c.475C>A (p.Gln159Lys)	MOCS3 (Q159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388542	NM_014484.5(MOCS3):c.475C>T (p.Gln159Ter)	MOCS3 (Q159*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2758131	NM_014484.5(MOCS3):c.476A>G (p.Gln159Arg)	MOCS3 (Q159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480486	NM_014484.5(MOCS3):c.478G>A (p.Ala160Thr)	MOCS3 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2753877	NM_014484.5(MOCS3):c.485C>A (p.Thr162Lys)	MOCS3 (T162K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005576	NM_014484.5(MOCS3):c.486G>T (p.Thr162=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494758	NM_014484.5(MOCS3):c.490G>T (p.Ala164Ser)	MOCS3 (A164S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372149	NM_014484.5(MOCS3):c.490G>A (p.Ala164Thr)	MOCS3 (A164T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1347872	NM_014484.5(MOCS3):c.494C>G (p.Thr165Ser)	MOCS3 (T165S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431763	NM_014484.5(MOCS3):c.496G>T (p.Ala166Ser)	MOCS3 (A166S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951165	NM_014484.5(MOCS3):c.508G>T (p.Val170Phe)	MOCS3 (V170F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387639	NM_014484.5(MOCS3):c.511C>T (p.Arg171Cys)	MOCS3 (R171C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668711	NM_014484.5(MOCS3):c.516A>G (p.Arg172=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659842	NM_014484.5(MOCS3):c.525G>C (p.Val175=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974424	NM_014484.5(MOCS3):c.528G>C (p.Val176=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2287790	NM_014484.5(MOCS3):c.529G>A (p.Ala177Thr)	MOCS3 (A177T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1666234	NM_014484.5(MOCS3):c.540G>A (p.Ser180=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927746	NM_014484.5(MOCS3):c.543C>T (p.Asp181=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581692	NM_014484.5(MOCS3):c.549G>T (p.Val183=)	MOCS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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