MAPK8IP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 1675598	NM_001318852.2(MAPK8IP3):c.9G>A (p.Glu3=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320910	NM_001318852.2(MAPK8IP3):c.15G>T (p.Gln5His)	MAPK8IP3 (Q5H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984995	NM_001318852.2(MAPK8IP3):c.24G>T (p.Glu8Asp)	MAPK8IP3 (E8D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039422	NM_001318852.2(MAPK8IP3):c.39G>A (p.Val13=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 1310130	NM_001318852.2(MAPK8IP3):c.47A>G (p.Gln16Arg)	MAPK8IP3 (Q16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336229	NM_001318852.2(MAPK8IP3):c.48G>C (p.Gln16His)	MAPK8IP3 (Q16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293261	NM_001318852.2(MAPK8IP3):c.62C>A (p.Ser21Tyr)	MAPK8IP3 (S21Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632561	NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs)	MAPK8IP3 (G22fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GLikely pathogenic
Select item 718593	NM_001318852.2(MAPK8IP3):c.66C>T (p.Gly22=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2632364	NM_001318852.2(MAPK8IP3):c.75G>A (p.Met25Ile)	MAPK8IP3 (M25I)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 805861	NM_001318852.2(MAPK8IP3):c.79G>T (p.Glu27Ter)	MAPK8IP3 (E27*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 598741	NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)	MAPK8IP3 (Y37*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GLikely pathogenic
Select item 2575910	NM_001318852.2(MAPK8IP3):c.167T>A (p.Met56Lys)	MAPK8IP3 (M56K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 2502112	NM_001318852.2(MAPK8IP3):c.213C>A (p.Ser71Arg)	MAPK8IP3 (S71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343145	NM_001318852.2(MAPK8IP3):c.235G>A (p.Glu79Lys)	LOC130058173, MAPK8IP3 (E79K)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 916590	NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)	LOC130058173, MAPK8IP3 (Y94C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 3293263	NM_001318852.2(MAPK8IP3):c.295G>T (p.Ala99Ser)	LOC130058173, MAPK8IP3 (A99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806197	NM_001318852.2(MAPK8IP3):c.318+1G>A	LOC130058173, MAPK8IP3	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 2571936	NM_001318852.2(MAPK8IP3):c.374A>G (p.Gln125Arg)	MAPK8IP3 (Q125R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3056907	NM_001318852.2(MAPK8IP3):c.387C>T (p.Tyr129=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 1311285	NM_001318852.2(MAPK8IP3):c.388G>A (p.Glu130Lys)	MAPK8IP3 (E130K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585023	NM_001318852.2(MAPK8IP3):c.401G>A (p.Arg134His)	MAPK8IP3 (R134H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 3381657	NM_001318852.2(MAPK8IP3):c.442T>C (p.Ser148Pro)	MAPK8IP3 (S148P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329728	NM_001318852.2(MAPK8IP3):c.464C>G (p.Ser155Trp)	MAPK8IP3 (S155W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698473	NM_001318852.2(MAPK8IP3):c.482A>T (p.Tyr161Phe)	MAPK8IP3 (Y161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694767	NM_001318852.2(MAPK8IP3):c.489C>G (p.Ala163=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805221	NM_001318852.2(MAPK8IP3):c.499C>T (p.Arg167Trp)	MAPK8IP3 (R167W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2672601	NM_001318852.2(MAPK8IP3):c.510+6C>T	MAPK8IP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2672602	NM_001318852.2(MAPK8IP3):c.551T>C (p.Met184Thr)	MAPK8IP3 (M184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410674	NM_001318852.2(MAPK8IP3):c.552G>T (p.Met184Ile)	MAPK8IP3 (M184I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392180	NM_001318852.2(MAPK8IP3):c.563G>C (p.Gly188Ala)	MAPK8IP3 (G188A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694768	NM_001318852.2(MAPK8IP3):c.579C>T (p.Thr193=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663962	NM_001318852.2(MAPK8IP3):c.580G>A (p.Glu194Lys)	MAPK8IP3 (E194K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 1063093	NM_001318852.2(MAPK8IP3):c.584G>A (p.Ser195Asn)	MAPK8IP3 (S195N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645908	NM_001318852.2(MAPK8IP3):c.602+7_602+56del	MAPK8IP3	Deletion (splice donor variant)	not provided	GBenign
Select item 2645909	NM_001318852.2(MAPK8IP3):c.602+21_602+45del	MAPK8IP3	Deletion (splice donor variant)	not provided	GBenign
Select item 3068108	NM_001318852.2(MAPK8IP3):c.601_602+13dup	MAPK8IP3	Duplication (splice donor variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 3293255	NM_001318852.2(MAPK8IP3):c.632T>C (p.Val211Ala)	MAPK8IP3 (V210A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GUncertain significance
Select item 3045342	NM_001318852.2(MAPK8IP3):c.648C>T (p.Asp216=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 2394467	NM_001318852.2(MAPK8IP3):c.649G>A (p.Gly217Ser)	MAPK8IP3 (G216S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123335	NM_001318852.2(MAPK8IP3):c.653C>G (p.Thr218Arg)	MAPK8IP3 (T217R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3123336	NM_001318852.2(MAPK8IP3):c.656T>C (p.Val219Ala)	MAPK8IP3 (V219A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285159	NM_001318852.2(MAPK8IP3):c.670G>A (p.Gly224Arg)	MAPK8IP3 (G223R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383071	NM_001318852.2(MAPK8IP3):c.678G>C (p.Lys226Asn)	MAPK8IP3 (K226N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645910	NM_001318852.2(MAPK8IP3):c.681C>T (p.Leu227=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028986	NM_001318852.2(MAPK8IP3):c.685C>T (p.Pro229Ser)	MAPK8IP3 (P228S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2580213	NM_001318852.2(MAPK8IP3):c.710G>A (p.Ser237Asn)	MAPK8IP3 (S236N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2645911	NM_001318852.2(MAPK8IP3):c.748-254C>T	MAPK8IP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3059557	NM_001318852.2(MAPK8IP3):c.768C>T (p.Ser256=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 2528111	NM_001318852.2(MAPK8IP3):c.791C>T (p.Ala264Val)	MAPK8IP3 (A263V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694769	NM_001318852.2(MAPK8IP3):c.828G>T (p.Thr276=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342410	NM_001318852.2(MAPK8IP3):c.833C>T (p.Thr278Ile)	MAPK8IP3 (T277I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 3057524	NM_001318852.2(MAPK8IP3):c.852C>T (p.Ala284=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 2645912	NM_001318852.2(MAPK8IP3):c.856G>A (p.Val286Ile)	MAPK8IP3 (V285I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3343765	NM_001318852.2(MAPK8IP3):c.871G>A (p.Glu291Lys)	MAPK8IP3 (E290K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694770	NM_001318852.2(MAPK8IP3):c.901G>A (p.Val301Met)	MAPK8IP3 (V300M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2585559	NM_001318852.2(MAPK8IP3):c.923G>T (p.Arg308Leu)	MAPK8IP3 (R308L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2511578	NM_001318852.2(MAPK8IP3):c.923G>A (p.Arg308His)	MAPK8IP3 (R308H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293259	NM_001318852.2(MAPK8IP3):c.929G>A (p.Arg310Gln)	MAPK8IP3 (R310Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3293257	NM_001318852.2(MAPK8IP3):c.938G>A (p.Arg313His)	MAPK8IP3 (R312H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456509	NM_001318852.2(MAPK8IP3):c.940G>A (p.Asp314Asn)	MAPK8IP3 (D314N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2645913	NM_001318852.2(MAPK8IP3):c.990T>C (p.Ser330=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028985	NM_001318852.2(MAPK8IP3):c.1012G>A (p.Glu338Lys)	MAPK8IP3 (E337K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2373830	NM_001318852.2(MAPK8IP3):c.1057G>C (p.Asp353His)	MAPK8IP3 (D352H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3378328	NM_001318852.2(MAPK8IP3):c.1066C>T (p.Pro356Ser)	MAPK8IP3 (P355S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645914	NM_001318852.2(MAPK8IP3):c.1074C>G (p.Thr358=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632819	NM_001318852.2(MAPK8IP3):c.1098-4A>G	MAPK8IP3	Single nucleotide variant (intron variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 2623395	NM_001318852.2(MAPK8IP3):c.1141G>A (p.Asp381Asn)	MAPK8IP3 (D381N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679596	NM_001318852.2(MAPK8IP3):c.1163C>T (p.Ser388Leu)	MAPK8IP3 (S387L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433643	NM_001318852.2(MAPK8IP3):c.1166C>T (p.Thr389Met)	MAPK8IP3 (T388M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 805862	NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg)	MAPK8IP3 (G401R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2433637	NM_001318852.2(MAPK8IP3):c.1207G>A (p.Asp403Asn)	MAPK8IP3 (D402N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 3039815	NM_001318852.2(MAPK8IP3):c.1217-6C>T	MAPK8IP3	Single nucleotide variant (intron variant)	MAPK8IP3-related disorder	GLikely benign
Select item 3053494	NM_001318852.2(MAPK8IP3):c.1218G>A (p.Gly406=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 2572015	NM_001318852.2(MAPK8IP3):c.1219G>T (p.Glu407Ter)	MAPK8IP3 (E406* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	Gnot provided
Select item 3038256	NM_001318852.2(MAPK8IP3):c.1228+3_1228+6del	MAPK8IP3	Deletion (splice donor variant)	MAPK8IP3-related disorder	GLikely benign
Select item 3032978	NM_001318852.2(MAPK8IP3):c.1230G>A (p.Val410=)	MAPK8IP3	Single nucleotide variant (synonymous variant +1 more)	MAPK8IP3-related disorder	GLikely benign
Select item 2222943	NM_001318852.2(MAPK8IP3):c.1247-3C>T	MAPK8IP3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 985618	NM_001318852.2(MAPK8IP3):c.1249A>G (p.Met417Val)	MAPK8IP3 (M410V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343804	NM_001318852.2(MAPK8IP3):c.1261G>A (p.Val421Met)	MAPK8IP3 (V414M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560257	NM_001318852.2(MAPK8IP3):c.1291C>T (p.Leu431Phe)	MAPK8IP3 (L430F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572515	NM_001318852.2(MAPK8IP3):c.1323GAA[1] (p.Lys442del)	MAPK8IP3 (K435del +2 more)	Microsatellite (inframe_deletion +1 more)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 632563	NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro)	MAPK8IP3 (L444P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 2645915	NM_001318852.2(MAPK8IP3):c.1359C>T (p.Ser453=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442239	NM_001318852.2(MAPK8IP3):c.1363G>T (p.Glu455Ter)	MAPK8IP3 (E448* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GPathogenic
Select item 1049863	NM_001318852.2(MAPK8IP3):c.1370A>C (p.Glu457Ala)	MAPK8IP3 (E450A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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