ClinVar for MedGen (Select 1675664) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367115	NM_001318852.2(MAPK8IP3):c.2222G>A (p.Cys741Tyr)	MAPK8IP3 (C734Y +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 3366632	NM_001318852.2(MAPK8IP3):c.1402C>T (p.Gln468Ter)	MAPK8IP3 (Q461* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GPathogenic
Select item 3256795	NM_001318852.2(MAPK8IP3):c.2122-1G>A	MAPK8IP3	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 3234851	NM_001318852.2(MAPK8IP3):c.2906C>T (p.Ala969Val)	MAPK8IP3 (A962V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
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 3067932	NM_001318852.2(MAPK8IP3):c.3034C>T (p.Arg1012Cys)	MAPK8IP3 (R1005C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 3064452	NM_001318852.2(MAPK8IP3):c.3079C>T (p.Arg1027Cys)	MAPK8IP3 (R1020C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2689401	NM_001318852.2(MAPK8IP3):c.3712G>A (p.Asp1238Asn)	MAPK8IP3 (D1231N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2689400	NM_001318852.2(MAPK8IP3):c.2744T>C (p.Leu915Ser)	MAPK8IP3 (L908S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2672210	NM_001318852.2(MAPK8IP3):c.1499A>G (p.Glu500Gly)	MAPK8IP3 (E493G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2671906	NM_001318852.2(MAPK8IP3):c.3239A>G (p.Lys1080Arg)	MAPK8IP3 (K1073R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
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 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 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 2582578	NM_001318852.2(MAPK8IP3):c.1386G>C (p.Glu462Asp)	MAPK8IP3 (E455D +2 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 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 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 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 2502823	NM_001318852.2(MAPK8IP3):c.3358C>T (p.His1120Tyr)	MAPK8IP3 (H1113Y +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2462030	NM_001318852.2(MAPK8IP3):c.1899C>A (p.Asp633Glu)	MAPK8IP3 (D626E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2443357	NM_001318852.2(MAPK8IP3):c.2025+2T>G	MAPK8IP3	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
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 2441704	NM_001318852.2(MAPK8IP3):c.2324G>A (p.Trp775Ter)	MAPK8IP3 (W768* +2 more)	Single nucleotide variant (nonsense)	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 2433642	NM_001318852.2(MAPK8IP3):c.1762C>T (p.Pro588Ser)	MAPK8IP3 (P581S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433641	NM_001318852.2(MAPK8IP3):c.2647G>A (p.Ala883Thr)	MAPK8IP3 (A876T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433640	NM_001318852.2(MAPK8IP3):c.3598C>T (p.Arg1200Cys)	MAPK8IP3 (R1193C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +2 more	GConflicting classifications of pathogenicity
Select item 2433639	NM_001318852.2(MAPK8IP3):c.3826G>A (p.Glu1276Lys)	MAPK8IP3 (E1269K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433638	NM_001318852.2(MAPK8IP3):c.3493G>A (p.Gly1165Arg)	MAPK8IP3 (G1158R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
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 2433636	NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)	MAPK8IP3 (T747M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2433635	NM_001318852.2(MAPK8IP3):c.3394G>A (p.Val1132Ile)	MAPK8IP3 (V1125I +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2431503	NM_001318852.2(MAPK8IP3):c.3726_3729del (p.Phe1242fs)	MAPK8IP3 (F1235fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2431407	NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)	MAPK8IP3 (C734R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GConflicting classifications of pathogenicity
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 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 1683522	NM_001318852.2(MAPK8IP3):c.1828A>G (p.Ser610Gly)	MAPK8IP3 (S603G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 1679630	NM_001318852.2(MAPK8IP3):c.2811G>C (p.Gln937His)	MAPK8IP3 (Q930H +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	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 1679154	NM_001318852.2(MAPK8IP3):c.3469C>T (p.Arg1157Trp)	MAPK8IP3 (R1150W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
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 1328531	NM_001318852.2(MAPK8IP3):c.2250G>T (p.Lys750Asn)	MAPK8IP3 (K743N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 1325589	NM_001318852.2(MAPK8IP3):c.1427G>A (p.Arg476His)	MAPK8IP3 (R469H +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 1185538	NM_001318852.2(MAPK8IP3):c.3893-24G>C	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185537	NM_001318852.2(MAPK8IP3):c.3768G>C (p.Gly1256=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1185442	NM_001318852.2(MAPK8IP3):c.3562+45T>C	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185441	NM_001318852.2(MAPK8IP3):c.3562+44C>T	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185440	NM_001318852.2(MAPK8IP3):c.3523+16A>C	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185439	NM_001318852.2(MAPK8IP3):c.3409+32T>G	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185438	NM_001318852.2(MAPK8IP3):c.3409+18A>G	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185437	NM_001318852.2(MAPK8IP3):c.2447-15C>T	MAPK8IP3	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1185436	NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala)	MAPK8IP3 (T747A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1185435	NM_001318852.2(MAPK8IP3):c.2211T>C (p.Asp737=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 1098633	NM_001318852.2(MAPK8IP3):c.3865G>A (p.Gly1289Arg)	MAPK8IP3 (G1282R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
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 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 931199	NM_001318852.2(MAPK8IP3):c.1873C>T (p.Arg625Trp)	MAPK8IP3 (R624W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 931019	NM_001318852.2(MAPK8IP3):c.2819+1G>A	MAPK8IP3	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 930955	NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly)	MAPK8IP3 (A1147G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 916591	NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)	MAPK8IP3 (E455G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GLikely pathogenic
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 828101	NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys)	MAPK8IP3 (Y1216C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 805864	NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)	MAPK8IP3 (H988Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GConflicting classifications of pathogenicity
Select item 805863	NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln)	MAPK8IP3 (R525Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GConflicting classifications of pathogenicity
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 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 803145	NM_001318852.2(MAPK8IP3):c.1665G>A (p.Met555Ile)	MAPK8IP3 (M548I +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 632565	NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	MAPK8IP3 (R1146C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 632564	NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	MAPK8IP3 (R578C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +2 more	GPathogenic/Likely pathogenic
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 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 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 545594	NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp)	MAPK8IP3 (A810D +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GUncertain significance

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Items: 74