MAPKAPK3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 7091	NC_000003.12:g.50612068A>T	CISH, LOC129936806 +1 more	Single nucleotide variant (5 prime UTR variant)	Tuberculosis, susceptibility to +2 more	Grisk factor
Select item 3010585	NM_001243925.2(MAPKAPK3):c.4del (p.Asp2fs)	MAPKAPK3 (D2fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1051510	NM_001243925.2(MAPKAPK3):c.7G>A (p.Gly3Ser)	MAPKAPK3 (G3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058149	NM_001243925.2(MAPKAPK3):c.10G>C (p.Glu4Gln)	MAPKAPK3 (E4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753274	NM_001243925.2(MAPKAPK3):c.23_35del (p.Glu8fs)	MAPKAPK3 (E8fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2998434	NM_001243925.2(MAPKAPK3):c.24G>A (p.Glu8=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475920	NM_001243925.2(MAPKAPK3):c.29G>A (p.Gly10Glu)	MAPKAPK3 (G10E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2132227	NM_001243925.2(MAPKAPK3):c.31G>C (p.Gly11Arg)	MAPKAPK3 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933371	NM_001243925.2(MAPKAPK3):c.31G>T (p.Gly11Cys)	MAPKAPK3 (G11C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601860	NM_001243925.2(MAPKAPK3):c.33C>T (p.Gly11=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936650	NM_001243925.2(MAPKAPK3):c.36_41del (p.Val13_Pro14del)	MAPKAPK3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1472119	NM_001243925.2(MAPKAPK3):c.34C>A (p.Pro12Thr)	MAPKAPK3 (P12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013130	NM_001243925.2(MAPKAPK3):c.36T>C (p.Pro12=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003381	NM_001243925.2(MAPKAPK3):c.53C>T (p.Ala18Val)	MAPKAPK3 (A18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129143	NM_001243925.2(MAPKAPK3):c.55C>A (p.Pro19Thr)	MAPKAPK3 (P19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084885	NM_001243925.2(MAPKAPK3):c.57C>G (p.Pro19=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516081	NM_001243925.2(MAPKAPK3):c.58G>A (p.Gly20Ser)	MAPKAPK3 (G20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663718	NM_001243925.2(MAPKAPK3):c.60C>G (p.Gly20=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726647	NM_001243925.2(MAPKAPK3):c.62G>A (p.Gly21Glu)	MAPKAPK3 (G21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115770	NM_001243925.2(MAPKAPK3):c.68G>A (p.Gly23Asp)	MAPKAPK3 (G23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041290	NM_001243925.2(MAPKAPK3):c.69C>T (p.Gly23=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1583879	NM_001243925.2(MAPKAPK3):c.75C>T (p.Gly25=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1587693	NM_001243925.2(MAPKAPK3):c.82C>G (p.Pro28Ala)	MAPKAPK3 (P28A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1500831	NM_001243925.2(MAPKAPK3):c.83C>G (p.Pro28Arg)	MAPKAPK3 (P28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369005	NM_001243925.2(MAPKAPK3):c.90dup (p.Arg31fs)	MAPKAPK3 (R31fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1514229	NM_001243925.2(MAPKAPK3):c.85G>C (p.Gly29Arg)	MAPKAPK3 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937471	NM_001243925.2(MAPKAPK3):c.85G>T (p.Gly29Trp)	MAPKAPK3 (G29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059278	NM_001243925.2(MAPKAPK3):c.86G>C (p.Gly29Ala)	MAPKAPK3 (G29A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011222	NM_001243925.2(MAPKAPK3):c.89G>T (p.Gly30Val)	MAPKAPK3 (G30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523404	NM_001243925.2(MAPKAPK3):c.89G>C (p.Gly30Ala)	MAPKAPK3 (G30A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1932215	NM_001243925.2(MAPKAPK3):c.90G>A (p.Gly30=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797664	NM_001243925.2(MAPKAPK3):c.91C>T (p.Arg31Trp)	MAPKAPK3 (R31W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761660	NM_001243925.2(MAPKAPK3):c.94C>G (p.Arg32Gly)	MAPKAPK3 (R32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031544	NM_001243925.2(MAPKAPK3):c.102C>G (p.Pro34=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067160	NM_001243925.2(MAPKAPK3):c.103A>C (p.Lys35Gln)	MAPKAPK3 (K35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054911	NM_001243925.2(MAPKAPK3):c.104A>T (p.Lys35Met)	MAPKAPK3 (K35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357580	NM_001243925.2(MAPKAPK3):c.112G>T (p.Ala38Ser)	MAPKAPK3 (A38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976726	NM_001243925.2(MAPKAPK3):c.114A>G (p.Ala38=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127088	NM_001243925.2(MAPKAPK3):c.123C>A (p.Asp41Glu)	MAPKAPK3 (D41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734213	NM_001243925.2(MAPKAPK3):c.125A>C (p.Asp42Ala)	MAPKAPK3 (D42A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557865	NM_001243925.2(MAPKAPK3):c.138C>A (p.Ser46=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720421	NM_001243925.2(MAPKAPK3):c.140A>C (p.Lys47Thr)	MAPKAPK3 (K47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348857	NM_001243925.2(MAPKAPK3):c.141G>C (p.Lys47Asn)	MAPKAPK3 (K47N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562187	NM_001243925.2(MAPKAPK3):c.144G>A (p.Gln48=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000768	NM_001243925.2(MAPKAPK3):c.152G>A (p.Gly51Asp)	MAPKAPK3 (G51D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722247	NM_001243925.2(MAPKAPK3):c.165C>A (p.Asn55Lys)	MAPKAPK3 (N55K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670140	NM_001243925.2(MAPKAPK3):c.165C>T (p.Asn55=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915485	NM_001243925.2(MAPKAPK3):c.173T>C (p.Val58Ala)	MAPKAPK3 (V58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154599	NM_001243925.2(MAPKAPK3):c.194G>T (p.Arg65Leu)	MAPKAPK3 (R65L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1362350	NM_001243925.2(MAPKAPK3):c.196A>T (p.Thr66Ser)	MAPKAPK3 (T66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 859513	NM_001243925.2(MAPKAPK3):c.203A>G (p.Gln68Arg)	MAPKAPK3 (Q68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055939	NM_001243925.2(MAPKAPK3):c.219G>A (p.Lys73=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1603321	NM_001243925.2(MAPKAPK3):c.219+8A>G	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907956	NM_001243925.2(MAPKAPK3):c.219+10C>G	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643710	NM_001243925.2(MAPKAPK3):c.219+10C>A	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1375613	NM_001243925.2(MAPKAPK3):c.220-11C>G	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 971759	NM_001243925.2(MAPKAPK3):c.220-9C>A	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1472919	NM_001243925.2(MAPKAPK3):c.224T>C (p.Leu75Pro)	MAPKAPK3 (L75P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107159	NM_001243925.2(MAPKAPK3):c.225G>A (p.Leu75=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166442	NM_001243925.2(MAPKAPK3):c.227A>G (p.Tyr76Cys)	MAPKAPK3 (Y76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135627	NM_001243925.2(MAPKAPK3):c.228T>A (p.Tyr76Ter)	MAPKAPK3 (Y76*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1473547	NM_001243925.2(MAPKAPK3):c.244C>T (p.Arg82Trp)	MAPKAPK3 (R82W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489104	NM_001243925.2(MAPKAPK3):c.245G>A (p.Arg82Gln)	MAPKAPK3 (R82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964393	NM_001243925.2(MAPKAPK3):c.256G>T (p.Asp86Tyr)	MAPKAPK3 (D86Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449836	NM_001243925.2(MAPKAPK3):c.259C>T (p.His87Tyr)	MAPKAPK3 (H87Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 959558	NM_001243925.2(MAPKAPK3):c.278G>A (p.Gly93Asp)	MAPKAPK3 (G93D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1133897	NM_001243925.2(MAPKAPK3):c.279C>T (p.Gly93=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1037772	NM_001243925.2(MAPKAPK3):c.280G>A (p.Gly94Ser)	MAPKAPK3 (G94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089623	NM_001243925.2(MAPKAPK3):c.300C>T (p.Ile100=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095893	NM_001243925.2(MAPKAPK3):c.306T>G (p.Asp102Glu)	MAPKAPK3 (D102E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914657	NM_001243925.2(MAPKAPK3):c.309G>C (p.Val103=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143107	NM_001243925.2(MAPKAPK3):c.309G>A (p.Val103=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488822	NM_001243925.2(MAPKAPK3):c.312T>A (p.Tyr104Ter)	MAPKAPK3 (Y104*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1398960	NM_001243925.2(MAPKAPK3):c.319A>G (p.Met107Val)	MAPKAPK3 (M107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490153	NM_001243925.2(MAPKAPK3):c.321G>T (p.Met107Ile)	MAPKAPK3 (M107I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346513	NM_001243925.2(MAPKAPK3):c.325C>T (p.His109Tyr)	MAPKAPK3 (H109Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993421	NM_001243925.2(MAPKAPK3):c.330C>T (p.Gly110=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3006553	NM_001243925.2(MAPKAPK3):c.333G>T (p.Lys111Asn)	MAPKAPK3 (K111N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465133	NM_001243925.2(MAPKAPK3):c.334C>T (p.Arg112Cys)	MAPKAPK3 (R112C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404371	NM_001243925.2(MAPKAPK3):c.335G>A (p.Arg112His)	MAPKAPK3 (R112H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321030	NM_001243925.2(MAPKAPK3):c.338G>A (p.Cys113Tyr)	MAPKAPK3 (C113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2094127	NM_001243925.2(MAPKAPK3):c.340CTC[1] (p.Leu115del)	MAPKAPK3 (L115del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1042447	NM_001243925.2(MAPKAPK3):c.350T>C (p.Ile117Thr)	MAPKAPK3 (I117T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977620	NM_001243925.2(MAPKAPK3):c.357A>G (p.Glu119=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812026	NM_001243925.2(MAPKAPK3):c.360-17A>C	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1393555	NM_001243925.2(MAPKAPK3):c.360-9del	MAPKAPK3	Deletion (intron variant)	not provided	GUncertain significance
Select item 1904720	NM_001243925.2(MAPKAPK3):c.375G>A (p.Glu125=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993115	NM_001243925.2(MAPKAPK3):c.376T>C (p.Leu126=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897568	NM_001243925.2(MAPKAPK3):c.384C>T (p.Ser128=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2558809	NM_001243925.2(MAPKAPK3):c.390T>G (p.Ile130Met)	MAPKAPK3 (I130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1464660	NM_001243925.2(MAPKAPK3):c.394G>A (p.Glu132Lys)	MAPKAPK3 (E132K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803597	NM_001243925.2(MAPKAPK3):c.398G>A (p.Arg133His)	MAPKAPK3 (R133H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1113474	NM_001243925.2(MAPKAPK3):c.402C>T (p.Gly134=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465636	NM_001243925.2(MAPKAPK3):c.403G>A (p.Asp135Asn)	MAPKAPK3 (D135N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3293266	NM_001243925.2(MAPKAPK3):c.404A>G (p.Asp135Gly)	MAPKAPK3 (D135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1492940	NM_001243925.2(MAPKAPK3):c.418G>A (p.Glu140Lys)	MAPKAPK3 (E140K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090235	NM_001243925.2(MAPKAPK3):c.424+9A>G	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1114633	NM_001243925.2(MAPKAPK3):c.424+10T>C	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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