ClinVar for Gene (Select 92154) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377970	NM_138383.3(MTSS2):c.487C>T (p.Gln163Ter)	MTSS2 (Q163*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3375723	NM_138383.3(MTSS2):c.1790C>A (p.Thr597Lys)	MTSS2 (T597K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373375	NM_138383.3(MTSS2):c.1739G>T (p.Ser580Ile)	MTSS2 (S580I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372478	NM_138383.3(MTSS2):c.1690_1719del (p.Ile564_Thr573del)	MTSS2	Deletion	not provided	GUncertain significance
Select item 3372274	NM_138383.3(MTSS2):c.330_334dup (p.Glu112fs)	MTSS2 (E112fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3370691	NM_138383.3(MTSS2):c.206G>A (p.Gly69Glu)	MTSS2 (G69E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369296	NM_138383.3(MTSS2):c.1150C>A (p.His384Asn)	MTSS2 (H384N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367916	NM_138383.3(MTSS2):c.2044del (p.Val682fs)	MTSS2 (V682fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3366211	NM_138383.3(MTSS2):c.1142T>G (p.Val381Gly)	MTSS2 (V381G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359822	NM_138383.3(MTSS2):c.101C>G (p.Ser34Cys)	MTSS2 (S34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337335	NM_138383.3(MTSS2):c.212C>G (p.Thr71Arg)	MTSS2 (T71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3296794	NM_138383.3(MTSS2):c.1483G>A (p.Asp495Asn)	MTSS2 (D495N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296792	NM_138383.3(MTSS2):c.1241C>A (p.Thr414Asn)	MTSS2 (T414N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296791	NM_138383.3(MTSS2):c.2161G>C (p.Glu721Gln)	MTSS2 (E721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296790	NM_138383.3(MTSS2):c.1694G>A (p.Arg565His)	MTSS2 (R565H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296789	NM_138383.3(MTSS2):c.1570G>A (p.Ala524Thr)	MTSS2 (A524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296788	NM_138383.3(MTSS2):c.932C>T (p.Ala311Val)	MTSS2 (A311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296787	NM_138383.3(MTSS2):c.1660C>T (p.Pro554Ser)	MTSS2 (P554S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296786	NM_138383.3(MTSS2):c.2135C>T (p.Pro712Leu)	MTSS2 (P712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296785	NM_138383.3(MTSS2):c.1277G>A (p.Arg426Gln)	MTSS2 (R426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296784	NM_138383.3(MTSS2):c.2209G>A (p.Val737Ile)	MTSS2 (V737I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3252268	NM_138383.3(MTSS2):c.1307A>C (p.His436Pro)	MTSS2 (H436P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	DDX19B, FCSK +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3238619	NM_138383.3(MTSS2):c.1270C>G (p.Arg424Gly)	MTSS2 (R424G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with ocular anomalies and distinctive facial features	GUncertain significance
Select item 3218392	NM_138383.3(MTSS2):c.884G>T (p.Gly295Val)	MTSS2 (G295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218387	NM_138383.3(MTSS2):c.881G>A (p.Gly294Glu)	MTSS2 (G294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218379	NM_138383.3(MTSS2):c.845G>A (p.Ser282Asn)	MTSS2 (S282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218376	NM_138383.3(MTSS2):c.814A>C (p.Lys272Gln)	MTSS2 (K272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218369	NM_138383.3(MTSS2):c.764G>A (p.Ser255Asn)	MTSS2 (S255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218365	NM_138383.3(MTSS2):c.63C>G (p.Asp21Glu)	MTSS2 (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218361	NM_138383.3(MTSS2):c.622G>A (p.Val208Met)	MTSS2 (V208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218354	NM_138383.3(MTSS2):c.463C>A (p.Leu155Ile)	MTSS2 (L155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218351	NM_138383.3(MTSS2):c.292G>A (p.Ala98Thr)	MTSS2 (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218348	NM_138383.3(MTSS2):c.2230C>T (p.Pro744Ser)	MTSS2 (P744S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218347	NM_138383.3(MTSS2):c.2195G>A (p.Arg732Gln)	MTSS2 (R732Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218345	NM_138383.3(MTSS2):c.2181C>G (p.Ile727Met)	MTSS2 (I727M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218340	NM_138383.3(MTSS2):c.2156C>T (p.Pro719Leu)	MTSS2 (P719L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218335	NM_138383.3(MTSS2):c.2150A>C (p.Asp717Ala)	MTSS2 (D717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218330	NM_138383.3(MTSS2):c.2149G>C (p.Asp717His)	MTSS2 (D717H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218325	NM_138383.3(MTSS2):c.2147G>C (p.Ser716Thr)	MTSS2 (S716T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218319	NM_138383.3(MTSS2):c.2120C>T (p.Thr707Met)	MTSS2 (T707M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218317	NM_138383.3(MTSS2):c.2080C>T (p.Pro694Ser)	MTSS2 (P694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218315	NM_138383.3(MTSS2):c.2027A>T (p.Glu676Val)	MTSS2 (E676V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218311	NM_138383.3(MTSS2):c.2012G>A (p.Arg671Gln)	MTSS2 (R671Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218299	NM_138383.3(MTSS2):c.1961G>T (p.Gly654Val)	MTSS2 (G654V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218296	NM_138383.3(MTSS2):c.1928C>G (p.Thr643Arg)	MTSS2 (T643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218295	NM_138383.3(MTSS2):c.1906A>G (p.Lys636Glu)	MTSS2 (K636E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218285	NM_138383.3(MTSS2):c.1861G>A (p.Glu621Lys)	MTSS2 (E621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218280	NM_138383.3(MTSS2):c.1846G>A (p.Val616Ile)	MTSS2 (V616I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218278	NM_138383.3(MTSS2):c.1771G>A (p.Val591Ile)	MTSS2 (V591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218275	NM_138383.3(MTSS2):c.1741G>A (p.Ala581Thr)	MTSS2 (A581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218270	NM_138383.3(MTSS2):c.1729G>A (p.Ala577Thr)	MTSS2 (A577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218268	NM_138383.3(MTSS2):c.1724G>A (p.Arg575His)	MTSS2 (R575H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218264	NM_138383.3(MTSS2):c.1658T>G (p.Leu553Arg)	MTSS2 (L553R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218262	NM_138383.3(MTSS2):c.1627C>T (p.Pro543Ser)	MTSS2 (P543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218258	NM_138383.3(MTSS2):c.1528G>A (p.Glu510Lys)	MTSS2 (E510K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218249	NM_138383.3(MTSS2):c.1512C>G (p.Asp504Glu)	MTSS2 (D504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218244	NM_138383.3(MTSS2):c.1495G>A (p.Val499Met)	MTSS2 (V499M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218240	NM_138383.3(MTSS2):c.1463C>T (p.Pro488Leu)	MTSS2 (P488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218236	NM_138383.3(MTSS2):c.1390C>T (p.Arg464Trp)	MTSS2 (R464W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218231	NM_138383.3(MTSS2):c.1355C>T (p.Thr452Met)	MTSS2 (T452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218230	NM_138383.3(MTSS2):c.1295T>C (p.Ile432Thr)	MTSS2 (I432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218227	NM_138383.3(MTSS2):c.1255G>A (p.Gly419Arg)	MTSS2 (G419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218223	NM_138383.3(MTSS2):c.1187A>G (p.Lys396Arg)	MTSS2 (K396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218221	NM_138383.3(MTSS2):c.1151A>G (p.His384Arg)	MTSS2 (H384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218213	NM_138383.3(MTSS2):c.1127C>T (p.Ser376Leu)	MTSS2 (S376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218210	NM_138383.3(MTSS2):c.1102G>A (p.Val368Ile)	MTSS2 (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218208	NM_138383.3(MTSS2):c.1093T>A (p.Cys365Ser)	MTSS2 (C365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065298	NM_138383.3(MTSS2):c.560G>A (p.Arg187His)	MTSS2 (R187H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with ocular anomalies and distinctive facial features	GUncertain significance
Select item 3063978	NM_138383.3(MTSS2):c.2018G>C (p.Ser673Thr)	MTSS2 (S673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691326	NM_138383.3(MTSS2):c.1129-16C>A	MTSS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2662774	NM_138383.3(MTSS2):c.536A>G (p.Glu179Gly)	MTSS2 (E179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646685	NM_138383.3(MTSS2):c.-182C>T	MTSS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2617621	NM_138383.3(MTSS2):c.1390C>G (p.Arg464Gly)	MTSS2 (R464G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607936	NM_138383.3(MTSS2):c.19G>A (p.Glu7Lys)	MTSS2 (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601502	NM_138383.3(MTSS2):c.1271G>A (p.Arg424Gln)	MTSS2 (R424Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594482	NM_138383.3(MTSS2):c.1889T>G (p.Leu630Arg)	MTSS2 (L630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588144	NM_138383.3(MTSS2):c.708C>A (p.His236Gln)	MTSS2 (H236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580838	NM_138383.3(MTSS2):c.1574A>C (p.Gln525Pro)	MTSS2 (Q525P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580836	NM_138383.3(MTSS2):c.1073C>T (p.Ser358Phe)	MTSS2 (S358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580834	NM_138383.3(MTSS2):c.235A>G (p.Thr79Ala)	MTSS2 (T79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573344	NM_138383.3(MTSS2):c.291-8C>T	MTSS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2570215	NM_138383.3(MTSS2):c.869C>A (p.Ala290Asp)	MTSS2 (A290D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568506	NM_138383.3(MTSS2):c.1375C>G (p.His459Asp)	MTSS2 (H459D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554300	NM_138383.3(MTSS2):c.1526C>T (p.Pro509Leu)	MTSS2 (P509L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533650	NM_138383.3(MTSS2):c.1738A>G (p.Ser580Gly)	MTSS2 (S580G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529769	NM_138383.3(MTSS2):c.2156C>G (p.Pro719Arg)	MTSS2 (P719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518894	NM_138383.3(MTSS2):c.956G>A (p.Arg319His)	MTSS2 (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512482	NM_138383.3(MTSS2):c.1144G>C (p.Gly382Arg)	MTSS2 (G382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508929	NM_138383.3(MTSS2):c.922C>T (p.Arg308Cys)	MTSS2 (R308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506995	NM_138383.3(MTSS2):c.1858G>A (p.Asp620Asn)	MTSS2 (D620N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with ocular anomalies and distinctive facial features	GUncertain significance
Select item 2490484	NM_138383.3(MTSS2):c.925A>G (p.Ser309Gly)	MTSS2 (S309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488529	NM_138383.3(MTSS2):c.2122C>T (p.Pro708Ser)	MTSS2 (P708S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470785	NM_138383.3(MTSS2):c.807C>G (p.Ser269Arg)	MTSS2 (S269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2