S Maheswaran - ClinVar - NCBI

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The following term was not found in ClinVar: Maheswaran.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205580	NM_001005484.2(OR4F5):c.287T>G (p.Ile96Ser)	OR4F5 (I96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288999	NM_001005484.2(OR4F5):c.742T>C (p.Ser248Pro)	OR4F5 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351346	NM_001005484.2(OR4F5):c.968G>C (p.Ser323Thr)	OR4F5 (S323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 2059344	NM_001385641.1(SAMD11):c.667AAG[1] (p.Lys224del)	SAMD11 (K45del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1409578	NM_001385641.1(SAMD11):c.670A>G (p.Lys224Glu)	SAMD11 (K224E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484814	NM_001385641.1(SAMD11):c.863C>G (p.Thr288Ser)	SAMD11 (T109S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1370201	NM_001385641.1(SAMD11):c.919_921dup (p.Arg307dup)	SAMD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2242101	NM_001385641.1(SAMD11):c.917G>A (p.Ser306Asn)	SAMD11 (S127N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157637	NM_001385641.1(SAMD11):c.998C>A (p.Ser333Tyr)	SAMD11 (S333Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202690	NM_001385641.1(SAMD11):c.1039C>T (p.Arg347Ter)	SAMD11 (R168* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1479161	NM_001385641.1(SAMD11):c.1195+9_1195+10insTACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACC	SAMD11	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2062951	NM_001385641.1(SAMD11):c.1267C>T (p.Pro423Ser)	SAMD11 (P260S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2302573	NM_001385641.1(SAMD11):c.1321G>A (p.Gly441Ser)	SAMD11 (G278S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467580	NM_001385641.1(SAMD11):c.1332_1343dup (p.Ala445_Pro448dup)	SAMD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 938016	NM_001385641.1(SAMD11):c.1372C>T (p.Pro458Ser)	SAMD11 (P295S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1409170	NM_001385641.1(SAMD11):c.1421_1423del (p.Pro474del)	SAMD11 (P475del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 840316	NM_001385641.1(SAMD11):c.1420C>T (p.Pro474Ser)	SAMD11 (P311S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 857913	NM_001385641.1(SAMD11):c.1432C>T (p.Pro478Ser)	SAMD11 (P315S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1046985	NM_001385641.1(SAMD11):c.1489C>T (p.Pro497Ser)	SAMD11 (P498S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3316072	NM_001385641.1(SAMD11):c.1501G>T (p.Ala501Ser)	SAMD11 (A338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1378326	NM_001385641.1(SAMD11):c.1534_1536dup (p.Arg512dup)	SAMD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 849483	NM_001385641.1(SAMD11):c.1585_1587del (p.Lys529del)	SAMD11 (K366del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2485599	NM_001385641.1(SAMD11):c.1606C>T (p.Pro536Ser)	SAMD11 (P373S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2101808	NM_001385641.1(SAMD11):c.1633_1647del (p.Leu545_Asp549del)	SAMD11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1473596	NM_001385641.1(SAMD11):c.1720C>T (p.Pro574Ser)	SAMD11 (P574S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 956033	NM_001385641.1(SAMD11):c.1735C>T (p.Pro579Ser)	SAMD11 (P416S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1935101	NM_001385641.1(SAMD11):c.1810T>A (p.Ser604Thr)	SAMD11 (S605T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 839655	NM_001385641.1(SAMD11):c.2038C>T (p.Pro680Ser)	SAMD11 (P517S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 943368	NM_001385641.1(SAMD11):c.2084AGG[1] (p.Glu696del)	LOC129929063, SAMD11 (E533del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2538497	NM_001385641.1(SAMD11):c.2098C>T (p.Pro700Ser)	LOC129929063, SAMD11 (P537S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1422736	NM_001385641.1(SAMD11):c.2150dup (p.Leu718fs)	LOC129929063, SAMD11 (L555fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2235613	NM_001385641.1(SAMD11):c.2158G>A (p.Gly720Ser)	SAMD11 (G557S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 961202	NM_001385641.1(SAMD11):c.2215C>T (p.Pro739Ser)	SAMD11 (P576S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1006740	NM_001385641.1(SAMD11):c.2226_2243del (p.Glu743_Thr748del)	SAMD11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1060978	NM_001385641.1(SAMD11):c.2256_2267dup (p.Lys753_Pro756dup)	SAMD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1385303	NM_001385641.1(SAMD11):c.2308C>T (p.Arg770Ter)	SAMD11 (R607* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1482549	NM_001385641.1(SAMD11):c.2310_2311del (p.Val771fs)	SAMD11 (V608fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 961975	NM_001385641.1(SAMD11):c.2315_2317del (p.Phe772del)	SAMD11 (F609del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2003899	NM_001385641.1(SAMD11):c.2319C>A (p.Tyr773Ter)	SAMD11 (Y610* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 951713	NM_001385641.1(SAMD11):c.2356C>G (p.Pro786Ala)	SAMD11 (P623A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 950448	NM_001385641.1(SAMD11):c.2377C>T (p.Arg793Ter)	SAMD11 (R630* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2007871	NM_001385641.1(SAMD11):c.2412_2414del (p.Thr806del)	SAMD11 (T806del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1005006	NM_001385641.1(SAMD11):c.2425_2446del (p.Ser809fs)	SAMD11 (S646fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1024032	NM_001385641.1(SAMD11):c.2511dup (p.Asp838fs)	SAMD11 (D675fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2133579	NM_001385641.1(SAMD11):c.2527_2528del (p.Leu843fs)	SAMD11 (L680fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2493094	NM_015658.4(NOC2L):c.2128A>G (p.Ser710Gly)	NOC2L (S710G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300219	NM_015658.4(NOC2L):c.1759C>A (p.Arg587Ser)	NOC2L (R587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259951	NM_015658.4(NOC2L):c.1758C>G (p.Ser586Arg)	NOC2L (S586R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200942	NM_015658.4(NOC2L):c.1381G>T (p.Ala461Ser)	NOC2L (A461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200940	NM_015658.4(NOC2L):c.1171G>T (p.Ala391Ser)	NOC2L (A391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484581	NM_015658.4(NOC2L):c.1153G>T (p.Ala385Ser)	NOC2L (A385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260474	NM_015658.4(NOC2L):c.758A>C (p.Tyr253Ser)	NOC2L (Y253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300215	NM_015658.4(NOC2L):c.299C>T (p.Ser100Leu)	NOC2L (S100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528639	NM_015658.4(NOC2L):c.157C>T (p.Pro53Ser)	NOC2L (P53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250015	NM_015658.4(NOC2L):c.106C>T (p.Pro36Ser)	NOC2L (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552252	NM_015658.4(NOC2L):c.17G>C (p.Ser6Thr)	NOC2L (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115502	NM_198317.3(KLHL17):c.145C>T (p.Pro49Ser)	KLHL17 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256501	NM_198317.3(KLHL17):c.198C>G (p.Ser66Arg)	KLHL17 (S66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286750	NM_198317.3(KLHL17):c.212C>G (p.Ser71Cys)	KLHL17 (S71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288900	NM_198317.3(KLHL17):c.457G>T (p.Ala153Ser)	KLHL17 (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288905	NM_198317.3(KLHL17):c.478G>A (p.Gly160Ser)	KLHL17 (G160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267574	NM_198317.3(KLHL17):c.510T>A (p.Ser170Arg)	KLHL17 (S170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288904	NM_198317.3(KLHL17):c.728C>G (p.Ser243Cys)	KLHL17 (S243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283849	NM_198317.3(KLHL17):c.737G>C (p.Ser246Thr)	KLHL17 (S246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535952	NM_198317.3(KLHL17):c.1052G>A (p.Ser351Asn)	KLHL17 (S351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275279	NM_198317.3(KLHL17):c.1532C>T (p.Ser511Leu)	KLHL17 (S511L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115504	NM_198317.3(KLHL17):c.1591G>T (p.Ala531Ser)	KLHL17 (A531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115505	NM_198317.3(KLHL17):c.1609G>A (p.Gly537Ser)	KLHL17 (G537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593196	NM_198317.3(KLHL17):c.1684C>T (p.Pro562Ser)	KLHL17 (P562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288899	NM_198317.3(KLHL17):c.1696C>A (p.Arg566Ser)	KLHL17 (R566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115508	NM_198317.3(KLHL17):c.1763G>A (p.Ser588Asn)	KLHL17 (S588N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352765	NM_032129.3(PLEKHN1):c.53T>C (p.Phe18Ser)	LOC129929066, PLEKHN1 (F18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215158	NM_032129.3(PLEKHN1):c.109G>A (p.Gly37Ser)	PLEKHN1 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215172	NM_032129.3(PLEKHN1):c.235A>C (p.Ser79Arg)	PLEKHN1 (S79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215176	NM_032129.3(PLEKHN1):c.392C>G (p.Ser131Trp)	PLEKHN1 (S131W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595747	NM_032129.3(PLEKHN1):c.599C>T (p.Ser200Leu)	PLEKHN1 (S200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515431	NM_032129.3(PLEKHN1):c.1031C>T (p.Ser344Phe)	PLEKHN1 (S344F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520372	NM_032129.3(PLEKHN1):c.1090A>C (p.Ser364Arg)	PLEKHN1 (S416R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307711	NM_032129.3(PLEKHN1):c.1258G>A (p.Gly420Ser)	PLEKHN1 (G432S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215164	NM_032129.3(PLEKHN1):c.1270C>T (p.Pro424Ser)	PLEKHN1 (P424S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345010	NM_032129.3(PLEKHN1):c.1358C>T (p.Ser453Leu)	PLEKHN1 (S418L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358514	NM_032129.3(PLEKHN1):c.1735G>A (p.Gly579Ser)	PLEKHN1 (G544S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284133	NM_021170.4(HES4):c.604C>T (p.Pro202Ser)	HES4, LOC129929069 (P202S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461640	NM_021170.4(HES4):c.559C>T (p.Pro187Ser)	HES4, LOC129929069 (P155S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402905	NM_021170.4(HES4):c.65G>C (p.Ser22Thr)	HES4 (S22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105503	NM_021170.4(HES4):c.35C>T (p.Ser12Leu)	HES4, LOC129929070 (S12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1354468	NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)	ISG15 (L28Q)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GConflicting classifications of pathogenicity
Select item 957804	NM_005101.4(ISG15):c.151G>A (p.Gly51Ser)	ISG15 (G51S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 661288	NM_005101.4(ISG15):c.202G>A (p.Gly68Ser)	ISG15 (G68S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 402986	NM_005101.4(ISG15):c.248G>A (p.Ser83Asn)	ISG15 (S83N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 658311	NM_005101.4(ISG15):c.271G>A (p.Gly91Ser)	ISG15 (G91S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 2085710	NM_005101.4(ISG15):c.285del (p.Tyr96fs)	ISG15 (Y96fs)	Deletion (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1948866	NM_005101.4(ISG15):c.286dup (p.Tyr96fs)	ISG15 (Y96fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1023883	NM_005101.4(ISG15):c.310G>A (p.Val104Met)	ISG15 (V104M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1061485	NM_005101.4(ISG15):c.352C>T (p.Gln118Ter)	ISG15 (Q118*)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1445818	NM_005101.4(ISG15):c.444_445del (p.Phe149fs)	ISG15 (F149fs)	Microsatellite (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1020899	NM_005101.4(ISG15):c.463dup (p.Arg155fs)	ISG15 (R155fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 953283	NM_005101.4(ISG15):c.463C>T (p.Arg155Trp)	ISG15 (R155W)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance

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