MSMO1[gene] and "single gene"[properties] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1240965	NM_006745.5(MSMO1):c.-31-318C>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270307	NM_006745.5(MSMO1):c.-31-139C>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2047094	NM_006745.5(MSMO1):c.13G>C (p.Glu5Gln)	MSMO1 (E5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3211979	NM_006745.5(MSMO1):c.15A>T (p.Glu5Asp)	MSMO1 (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405149	NM_006745.5(MSMO1):c.31A>C (p.Ser11Arg)	MSMO1 (S11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211993	NM_006745.5(MSMO1):c.38C>T (p.Ala13Val)	MSMO1 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296448	NM_006745.5(MSMO1):c.125A>T (p.Asn42Ile)	MSMO1 (N42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532355	NM_006745.5(MSMO1):c.144G>T (p.Gln48His)	MSMO1 (Q48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2067401	NM_006745.5(MSMO1):c.156G>C (p.Trp52Cys)	MSMO1 (W52C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956304	NM_006745.5(MSMO1):c.168A>G (p.Ile56Met)	MSMO1 (I56M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191614	NM_006745.5(MSMO1):c.179C>G (p.Ala60Gly)	MSMO1 (A60G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3012308	NM_006745.5(MSMO1):c.195C>A (p.Phe65Leu)	MSMO1 (F65L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278279	NM_006745.5(MSMO1):c.255+176A>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267620	NM_006745.5(MSMO1):c.255+196A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252181	NM_006745.5(MSMO1):c.256-36G>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902633	NM_006745.5(MSMO1):c.256-4G>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2162812	NM_006745.5(MSMO1):c.282A>G (p.Gln94=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2517183	NM_006745.5(MSMO1):c.284G>C (p.Trp95Ser)	MSMO1 (W95S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 742157	NM_006745.5(MSMO1):c.296A>G (p.Lys99Arg)	MSMO1 (K99R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 728211	NM_006745.5(MSMO1):c.303T>C (p.Leu101=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1933646	NM_006745.5(MSMO1):c.306C>T (p.Leu102=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2067304	NM_006745.5(MSMO1):c.315C>A (p.His105Gln)	MSMO1 (H105Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1943548	NM_006745.5(MSMO1):c.352T>C (p.Tyr118His)	MSMO1 (Y118H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 783431	NM_006745.5(MSMO1):c.371A>G (p.Asn124Ser)	MSMO1 (N124S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1666596	NM_006745.5(MSMO1):c.372T>C (p.Asn124=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 728609	NM_006745.5(MSMO1):c.376C>G (p.Pro126Ala)	MSMO1 (P126A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1296795	NM_006745.5(MSMO1):c.404+72C>T	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271414	NM_006745.5(MSMO1):c.405-323T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250037	NM_006745.5(MSMO1):c.405-297T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237807	NM_006745.5(MSMO1):c.405-161C>T	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291762	NM_006745.5(MSMO1):c.405-85T>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006513	NM_006745.5(MSMO1):c.405-20A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965158	NM_006745.5(MSMO1):c.405-15A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539566	NM_006745.5(MSMO1):c.405-10dup	MSMO1	Duplication (intron variant)	not provided	GBenign
Select item 1608497	NM_006745.5(MSMO1):c.405-9A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1427351	NM_006745.5(MSMO1):c.411T>A (p.Phe137Leu)	MSMO1 (F137L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395290	NM_006745.5(MSMO1):c.443T>C (p.Ile148Thr)	MSMO1 (I148T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057165	NM_006745.5(MSMO1):c.449A>T (p.Asp150Val)	MSMO1 (D150V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3211999	NM_006745.5(MSMO1):c.458A>C (p.His153Pro)	MSMO1 (H153P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 222974	NM_006745.5(MSMO1):c.519T>A (p.His173Gln)	MSMO1 (H173Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	GPathogenic
Select item 1903439	NM_006745.5(MSMO1):c.531+15T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264091	NM_006745.5(MSMO1):c.532-129T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1665139	NM_006745.5(MSMO1):c.532-16T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698464	NM_006745.5(MSMO1):c.532-11G>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2457302	NM_006745.5(MSMO1):c.532G>A (p.Ala178Thr)	MSMO1 (A178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520754	NM_006745.5(MSMO1):c.536C>T (p.Pro179Leu)	MSMO1 (P179L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006698	NM_006745.5(MSMO1):c.587G>C (p.Gly196Ala)	MSMO1 (G196A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205564	NM_006745.5(MSMO1):c.602T>C (p.Ile201Thr)	MSMO1 (I201T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1408530	NM_006745.5(MSMO1):c.608_609delinsCT (p.Ile203Thr)	MSMO1 (I72T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 731275	NM_006745.5(MSMO1):c.610G>A (p.Val204Met)	MSMO1 (V73M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1908721	NM_006745.5(MSMO1):c.659G>A (p.Arg220His)	MSMO1 (R89H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273975	NM_006745.5(MSMO1):c.686+62A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274241	NM_006745.5(MSMO1):c.686+82G>T	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296799	NM_006745.5(MSMO1):c.686+273T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251572	NM_006745.5(MSMO1):c.687-208_687-207insA	MSMO1	Insertion (intron variant)	not provided	GBenign
Select item 1278904	NM_006745.5(MSMO1):c.687-162C>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238593	NM_006745.5(MSMO1):c.687-39G>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2880012	NM_006745.5(MSMO1):c.687-12T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081345	NM_006745.5(MSMO1):c.707A>G (p.Asn236Ser)	MSMO1 (N105S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 222975	NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys)	MSMO1 (Y244C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 222976	NM_006745.5(MSMO1):c.736G>C (p.Gly246Arg)	MSMO1 (G115R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	GPathogenic
Select item 1415224	NM_006745.5(MSMO1):c.818G>A (p.Gly273Glu)	MSMO1 (G273E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751078	NM_006745.5(MSMO1):c.821C>T (p.Thr274Ile)	MSMO1 (T143I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3296446	NM_006745.5(MSMO1):c.823G>A (p.Asp275Asn)	MSMO1 (D275N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229277	NM_006745.5(MSMO1):c.831G>A (p.Gln277=)	MSMO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1228721	NM_006745.5(MSMO1):c.*115A>G	MSMO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280274	NM_006745.5(MSMO1):c.*242A>G	MSMO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 67