2-Pyrimidinamine, 4-propyl- - ClinVar - NCBI

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The following terms were not found in ClinVar: Pyrimidinamine, propyl.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1019397	NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)	SAMD11 (G183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943630	NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr)	SAMD11 (H89Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047625	NM_001385641.1(SAMD11):c.827G>A (p.Arg276Gln)	SAMD11 (R97Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2022979	NM_001385641.1(SAMD11):c.842G>A (p.Ser281Asn)	SAMD11 (S102N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316075	NM_001385641.1(SAMD11):c.856C>T (p.Leu286Phe)	SAMD11 (L107F +1 more)	Single nucleotide variant (missense variant)	not specified	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 1008984	NM_001385641.1(SAMD11):c.890G>T (p.Arg297Leu)	SAMD11 (R118L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1909476	NM_001385641.1(SAMD11):c.919C>T (p.Arg307Cys)	SAMD11 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537849	NM_001385641.1(SAMD11):c.946G>A (p.Glu316Lys)	SAMD11 (E316K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1365896	NM_001385641.1(SAMD11):c.959G>A (p.Arg320Gln)	SAMD11 (R141Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3200950	NM_015658.4(NOC2L):c.2233C>A (p.Leu745Ile)	NOC2L (L745I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394018	NM_015658.4(NOC2L):c.2165C>G (p.Ala722Gly)	NOC2L (A722G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383333	NM_015658.4(NOC2L):c.2158G>A (p.Ala720Thr)	NOC2L (A720T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200949	NM_015658.4(NOC2L):c.2156A>T (p.Asp719Val)	NOC2L (D719V)	Single nucleotide variant (missense variant)	not specified	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 3200948	NM_015658.4(NOC2L):c.2124G>C (p.Glu708Asp)	NOC2L (E708D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2637976	NM_015658.4(NOC2L):c.2097T>C (p.Asp699=)	NOC2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229864	NM_015658.4(NOC2L):c.2077C>T (p.Arg693Trp)	NOC2L (R693W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542889	NM_015658.4(NOC2L):c.2035G>A (p.Glu679Lys)	NOC2L (E679K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637977	NM_015658.4(NOC2L):c.2031C>T (p.Asp677=)	NOC2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324817	NM_015658.4(NOC2L):c.1984A>G (p.Lys662Glu)	NOC2L (K662E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512628	NM_015658.4(NOC2L):c.1960G>A (p.Ala654Thr)	NOC2L (A654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200947	NM_015658.4(NOC2L):c.1946A>G (p.Lys649Arg)	NOC2L (K649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637978	NM_015658.4(NOC2L):c.1938T>G (p.Pro646=)	NOC2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354802	NM_015658.4(NOC2L):c.1883G>A (p.Arg628Gln)	NOC2L (R628Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200945	NM_015658.4(NOC2L):c.1877G>A (p.Arg626His)	NOC2L (R626H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290351	NM_015658.4(NOC2L):c.1805A>G (p.Glu602Gly)	NOC2L (E602G)	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 3200944	NM_015658.4(NOC2L):c.1702C>T (p.Arg568Trp)	NOC2L (R568W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212726	NM_015658.4(NOC2L):c.1676G>A (p.Arg559Gln)	NOC2L (R559Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603677	NM_015658.4(NOC2L):c.1639G>A (p.Val547Met)	NOC2L (V547M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604679	NM_015658.4(NOC2L):c.1619G>A (p.Cys540Tyr)	NOC2L (C540Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392748	NM_015658.4(NOC2L):c.1510G>A (p.Val504Met)	NOC2L (V504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024904	NM_015658.4(NOC2L):c.1509C>T (p.Ser503=)	NOC2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3200941	NM_015658.4(NOC2L):c.1288C>G (p.Pro430Ala)	NOC2L (P430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319690	NM_015658.4(NOC2L):c.1280C>T (p.Ala427Val)	NOC2L (A427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300217	NM_015658.4(NOC2L):c.1175T>C (p.Met392Thr)	NOC2L (M392T)	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 3200939	NM_015658.4(NOC2L):c.1127A>G (p.His376Arg)	NOC2L (H376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512712	NM_015658.4(NOC2L):c.1109C>T (p.Pro370Leu)	NOC2L (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475794	NM_015658.4(NOC2L):c.1082C>T (p.Thr361Ile)	NOC2L (T361I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248470	NM_015658.4(NOC2L):c.1076A>G (p.Gln359Arg)	NOC2L (Q359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299139	NM_015658.4(NOC2L):c.1075C>G (p.Gln359Glu)	NOC2L (Q359E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200957	NM_015658.4(NOC2L):c.973A>G (p.Lys325Glu)	NOC2L (K325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554170	NM_015658.4(NOC2L):c.967C>A (p.His323Asn)	NOC2L (H323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621660	NM_015658.4(NOC2L):c.894G>T (p.Met298Ile)	NOC2L (M298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591864	NM_015658.4(NOC2L):c.824G>A (p.Arg275Gln)	NOC2L (R275Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594282	NM_015658.4(NOC2L):c.803C>T (p.Thr268Met)	NOC2L (T268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611174	NM_015658.4(NOC2L):c.800C>T (p.Thr267Met)	NOC2L (T267M)	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 2299882	NM_015658.4(NOC2L):c.755C>G (p.Ala252Gly)	NOC2L (A252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555060	NM_015658.4(NOC2L):c.740G>A (p.Arg247His)	NOC2L (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300218	NM_015658.4(NOC2L):c.731G>A (p.Gly244Glu)	NOC2L (G244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200956	NM_015658.4(NOC2L):c.722C>T (p.Pro241Leu)	NOC2L (P241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265139	NM_015658.4(NOC2L):c.688G>A (p.Asp230Asn)	NOC2L (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567338	NM_015658.4(NOC2L):c.683C>T (p.Ala228Val)	NOC2L (A228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300213	NM_015658.4(NOC2L):c.680T>G (p.Val227Gly)	NOC2L (V227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210635	NM_015658.4(NOC2L):c.617C>T (p.Ala206Val)	NOC2L (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210454	NM_015658.4(NOC2L):c.596C>T (p.Thr199Met)	NOC2L (T199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408367	NM_015658.4(NOC2L):c.581A>G (p.Asn194Ser)	NOC2L (N194S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250548	NM_015658.4(NOC2L):c.574G>A (p.Glu192Lys)	NOC2L (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200955	NM_015658.4(NOC2L):c.563A>G (p.Gln188Arg)	NOC2L (Q188R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616453	NM_015658.4(NOC2L):c.559G>A (p.Asp187Asn)	NOC2L (D187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200954	NM_015658.4(NOC2L):c.527C>T (p.Ala176Val)	NOC2L (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367333	NM_015658.4(NOC2L):c.490C>T (p.Arg164Cys)	NOC2L (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404011	NM_015658.4(NOC2L):c.484A>C (p.Lys162Gln)	NOC2L (K162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200953	NM_015658.4(NOC2L):c.432G>T (p.Lys144Asn)	NOC2L (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200952	NM_015658.4(NOC2L):c.398G>A (p.Gly133Glu)	NOC2L (G133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300214	NM_015658.4(NOC2L):c.397G>A (p.Gly133Arg)	NOC2L (G133R)	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 3200951	NM_015658.4(NOC2L):c.275A>G (p.Gln92Arg)	NOC2L (Q92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214031	NM_015658.4(NOC2L):c.263A>G (p.Gln88Arg)	NOC2L (Q88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353397	NM_015658.4(NOC2L):c.184C>G (p.Arg62Gly)	NOC2L (R62G)	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 2410546	NM_015658.4(NOC2L):c.131G>A (p.Arg44His)	NOC2L (R44H)	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 2408263	NM_015658.4(NOC2L):c.56T>G (p.Phe19Cys)	NOC2L (F19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239736	NM_015658.4(NOC2L):c.49G>A (p.Asp17Asn)	NOC2L (D17N)	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 2267574	NM_198317.3(KLHL17):c.510T>A (p.Ser170Arg)	KLHL17 (S170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384970	NM_198317.3(KLHL17):c.569A>G (p.Asp190Gly)	KLHL17 (D190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469111	NM_198317.3(KLHL17):c.637G>A (p.Ala213Thr)	KLHL17 (A213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495893	NM_198317.3(KLHL17):c.649G>T (p.Val217Leu)	KLHL17 (V217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288903	NM_198317.3(KLHL17):c.682G>A (p.Glu228Lys)	KLHL17 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363586	NM_032129.3(PLEKHN1):c.331G>A (p.Asp111Asn)	PLEKHN1 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215175	NM_032129.3(PLEKHN1):c.344G>A (p.Cys115Tyr)	PLEKHN1 (C115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304233	NM_032129.3(PLEKHN1):c.352G>A (p.Glu118Lys)	PLEKHN1 (E118K)	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 2261120	NM_021170.4(HES4):c.638G>C (p.Gly213Ala)	HES4, LOC129929069 (G213A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360191	NM_021170.4(HES4):c.635C>G (p.Pro212Arg)	HES4, LOC129929069 (P212R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363714	NM_021170.4(HES4):c.629A>T (p.Gln210Leu)	HES4, LOC129929069 (Q178L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360190	NM_021170.4(HES4):c.620C>G (p.Ala207Gly)	HES4, LOC129929069 (A175G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389046	NM_021170.4(HES4):c.614C>T (p.Pro205Leu)	HES4, LOC129929069 (P173L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392662	NM_021170.4(HES4):c.605C>G (p.Pro202Arg)	HES4, LOC129929069 (P170R +2 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

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