ClinVar for Gene (Select 7867) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 258

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123358	NM_001243925.2(MAPKAPK3):c.430G>A (p.Ala144Thr)	MAPKAPK3 (A144T)	Single nucleotide variant (missense variant)	not specified	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 3011048	NM_001243925.2(MAPKAPK3):c.1038C>T (p.Tyr346=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010585	NM_001243925.2(MAPKAPK3):c.4del (p.Asp2fs)	MAPKAPK3 (D2fs)	Deletion (frameshift variant +1 more)	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 2998434	NM_001243925.2(MAPKAPK3):c.24G>A (p.Glu8=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993421	NM_001243925.2(MAPKAPK3):c.330C>T (p.Gly110=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2993115	NM_001243925.2(MAPKAPK3):c.376T>C (p.Leu126=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980549	NM_001243925.2(MAPKAPK3):c.644del (p.Gly215fs)	MAPKAPK3 (G215fs)	Deletion (frameshift 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 2973668	NM_001243925.2(MAPKAPK3):c.945C>G (p.Leu315=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969290	NM_001243925.2(MAPKAPK3):c.628+12G>A	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866450	NM_001243925.2(MAPKAPK3):c.667T>C (p.Cys223Arg)	MAPKAPK3 (C223R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852080	NM_001243925.2(MAPKAPK3):c.436A>G (p.Ile146Val)	MAPKAPK3 (I146V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834239	NM_001243925.2(MAPKAPK3):c.875G>C (p.Arg292Thr)	MAPKAPK3 (R292T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824829	NM_001243925.2(MAPKAPK3):c.505-13C>T	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814206	NM_001243925.2(MAPKAPK3):c.868A>G (p.Thr290Ala)	MAPKAPK3 (T290A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812026	NM_001243925.2(MAPKAPK3):c.360-17A>C	MAPKAPK3	Single nucleotide variant (intron 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 2800909	NM_001243925.2(MAPKAPK3):c.997-14C>T	MAPKAPK3	Single nucleotide variant (intron 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 2792392	NM_001243925.2(MAPKAPK3):c.921G>C (p.Ser307=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772124	NM_001243925.2(MAPKAPK3):c.543A>G (p.Ala181=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2753274	NM_001243925.2(MAPKAPK3):c.23_35del (p.Glu8fs)	MAPKAPK3 (E8fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2751445	NM_001243925.2(MAPKAPK3):c.991G>A (p.Val331Ile)	MAPKAPK3 (V331I)	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 2726647	NM_001243925.2(MAPKAPK3):c.62G>A (p.Gly21Glu)	MAPKAPK3 (G21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721178	NM_001243925.2(MAPKAPK3):c.1144C>T (p.Gln382Ter)	MAPKAPK3 (Q382*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2627452	NM_001243925.2(MAPKAPK3):c.900C>G (p.Asn300Lys)	MAPKAPK3 (N300K)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 3	GUncertain significance
Select item 2621590	NM_001243925.2(MAPKAPK3):c.815A>G (p.Glu272Gly)	MAPKAPK3 (E272G)	Single nucleotide variant (missense variant)	not specified	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 2556250	NM_001243925.2(MAPKAPK3):c.1028G>A (p.Arg343Gln)	MAPKAPK3 (R343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547859	NM_001243925.2(MAPKAPK3):c.695T>A (p.Met232Lys)	MAPKAPK3 (M232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2417853	NM_001243925.2(MAPKAPK3):c.705C>G (p.Leu235=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2324603	NM_001243925.2(MAPKAPK3):c.490C>T (p.His164Tyr)	MAPKAPK3 (H164Y)	Single nucleotide variant (missense variant)	not specified	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 2275779	NM_001243925.2(MAPKAPK3):c.802C>G (p.Pro268Ala)	MAPKAPK3 (P268A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263684	NM_001243925.2(MAPKAPK3):c.1049A>T (p.Lys350Met)	MAPKAPK3 (K350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2184966	NM_001243925.2(MAPKAPK3):c.1027C>T (p.Arg343Trp)	MAPKAPK3 (R343W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179088	NM_001243925.2(MAPKAPK3):c.903C>A (p.His301Gln)	MAPKAPK3 (H301Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2132227	NM_001243925.2(MAPKAPK3):c.31G>C (p.Gly11Arg)	MAPKAPK3 (G11R)	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 2128151	NM_001243925.2(MAPKAPK3):c.981C>T (p.His327=)	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 2120431	NM_001243925.2(MAPKAPK3):c.681C>T (p.Ser227=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2095893	NM_001243925.2(MAPKAPK3):c.306T>G (p.Asp102Glu)	MAPKAPK3 (D102E)	Single nucleotide variant (missense variant)	not provided	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 2089623	NM_001243925.2(MAPKAPK3):c.300C>T (p.Ile100=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087428	NM_001243925.2(MAPKAPK3):c.803C>G (p.Pro268Arg)	MAPKAPK3 (P268R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086719	NM_001243925.2(MAPKAPK3):c.481A>G (p.Asn161Asp)	MAPKAPK3 (N161D)	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 2067160	NM_001243925.2(MAPKAPK3):c.103A>C (p.Lys35Gln)	MAPKAPK3 (K35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065145	NM_001243925.2(MAPKAPK3):c.529A>G (p.Lys177Glu)	MAPKAPK3 (K177E)	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 2032482	NM_001243925.2(MAPKAPK3):c.829+11C>T	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031544	NM_001243925.2(MAPKAPK3):c.102C>G (p.Pro34=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030880	NM_001243925.2(MAPKAPK3):c.628+20G>A	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016202	NM_001243925.2(MAPKAPK3):c.713G>T (p.Gly238Val)	MAPKAPK3 (G238V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015444	NM_001243925.2(MAPKAPK3):c.830-20C>T	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014151	NM_001243925.2(MAPKAPK3):c.557C>T (p.Thr186Ile)	MAPKAPK3 (T186I)	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 2002372	NM_001243925.2(MAPKAPK3):c.764A>G (p.Lys255Arg)	MAPKAPK3 (K255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1987358	NM_001243925.2(MAPKAPK3):c.945C>T (p.Leu315=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985342	NM_001243925.2(MAPKAPK3):c.695T>G (p.Met232Arg)	MAPKAPK3 (M232R)	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 1973345	NM_001243925.2(MAPKAPK3):c.801T>C (p.Asn267=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973093	NM_001243925.2(MAPKAPK3):c.755C>T (p.Pro252Leu)	MAPKAPK3 (P252L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972122	NM_001243925.2(MAPKAPK3):c.916-16G>T	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967167	NM_001243925.2(MAPKAPK3):c.728A>G (p.Tyr243Cys)	MAPKAPK3 (Y243C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962930	NM_001243925.2(MAPKAPK3):c.979C>A (p.His327Asn)	MAPKAPK3 (H327N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958823	NM_001243925.2(MAPKAPK3):c.628+15C>T	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958022	NM_001243925.2(MAPKAPK3):c.900C>T (p.Asn300=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956121	NM_001243925.2(MAPKAPK3):c.1065G>A (p.Lys355=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944209	NM_001243925.2(MAPKAPK3):c.504+3G>A	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1936650	NM_001243925.2(MAPKAPK3):c.36_41del (p.Val13_Pro14del)	MAPKAPK3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1934382	NM_001243925.2(MAPKAPK3):c.987C>T (p.Asp329=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932215	NM_001243925.2(MAPKAPK3):c.90G>A (p.Gly30=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931104	NM_001243925.2(MAPKAPK3):c.996+1G>A	MAPKAPK3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1928918	NM_001243925.2(MAPKAPK3):c.1030G>A (p.Val344Ile)	MAPKAPK3 (V344I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1914657	NM_001243925.2(MAPKAPK3):c.309G>C (p.Val103=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907956	NM_001243925.2(MAPKAPK3):c.219+10C>G	MAPKAPK3	Single nucleotide variant (intron variant)	MAPKAPK3-related condition +1 more	GLikely benign
Select item 1907725	NM_001243925.2(MAPKAPK3):c.442C>T (p.Arg148Trp)	MAPKAPK3 (R148W)	Single nucleotide variant (missense variant)	not provided +1 more	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 1897568	NM_001243925.2(MAPKAPK3):c.384C>T (p.Ser128=)	MAPKAPK3	Single nucleotide variant (synonymous 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 1720421	NM_001243925.2(MAPKAPK3):c.140A>C (p.Lys47Thr)	MAPKAPK3 (K47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716076	NM_001243925.2(MAPKAPK3):c.526T>A (p.Ser176Thr)	MAPKAPK3 (S176T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674404	NM_001243925.2(MAPKAPK3):c.915+19C>G	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670140	NM_001243925.2(MAPKAPK3):c.165C>T (p.Asn55=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663886	NM_001243925.2(MAPKAPK3):c.997-14C>A	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663718	NM_001243925.2(MAPKAPK3):c.60C>G (p.Gly20=)	MAPKAPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659836	NM_001243925.2(MAPKAPK3):c.629-17T>C	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653355	NM_001243925.2(MAPKAPK3):c.997-17A>G	MAPKAPK3	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3