"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAPK8IP3" - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675598	NM_001318852.2(MAPK8IP3):c.9G>A (p.Glu3=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder +1 more	GBenign/Likely benign
Select item 3039422	NM_001318852.2(MAPK8IP3):c.39G>A (p.Val13=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 718593	NM_001318852.2(MAPK8IP3):c.66C>T (p.Gly22=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3056907	NM_001318852.2(MAPK8IP3):c.387C>T (p.Tyr129=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 1694768	NM_001318852.2(MAPK8IP3):c.579C>T (p.Thr193=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2645908	NM_001318852.2(MAPK8IP3):c.602+7_602+56del	MAPK8IP3	Deletion (splice donor variant)	not provided +1 more	GBenign/Likely benign
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 2645910	NM_001318852.2(MAPK8IP3):c.681C>T (p.Leu227=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3057524	NM_001318852.2(MAPK8IP3):c.852C>T (p.Ala284=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 2645913	NM_001318852.2(MAPK8IP3):c.990T>C (p.Ser330=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 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 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 3048054	NM_001318852.2(MAPK8IP3):c.1382G>T (p.Gly461Val)	MAPK8IP3 (G454V +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 511615	NM_001318852.2(MAPK8IP3):c.1458-3_1458-2del	MAPK8IP3	Microsatellite (splice acceptor variant)	MAPK8IP3-related disorder +2 more	GLikely benign
Select item 2498636	NM_001318852.2(MAPK8IP3):c.1473C>T (p.Ala491=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3025634	NM_001318852.2(MAPK8IP3):c.1620G>A (p.Lys540=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2578753	NM_001318852.2(MAPK8IP3):c.1692C>T (p.Ser564=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3050318	NM_001318852.2(MAPK8IP3):c.1827C>T (p.Phe609=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 3040247	NM_001318852.2(MAPK8IP3):c.1855C>T (p.Pro619Ser)	MAPK8IP3 (P612S +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 1232954	NM_001318852.2(MAPK8IP3):c.1863G>C (p.Ser621=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2645921	NM_001318852.2(MAPK8IP3):c.1899C>T (p.Asp633=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3032031	NM_001318852.2(MAPK8IP3):c.2036A>G (p.Asn679Ser)	MAPK8IP3 (N672S +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GLikely benign
Select item 711954	NM_001318852.2(MAPK8IP3):c.2133C>T (p.Ala711=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3046949	NM_001318852.2(MAPK8IP3):c.2142C>T (p.Val714=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 1185435	NM_001318852.2(MAPK8IP3):c.2211T>C (p.Asp737=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1185436	NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala)	MAPK8IP3 (T747A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GBenign
Select item 3045440	NM_001318852.2(MAPK8IP3):c.2454C>T (p.Ser818=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 2635346	NM_001318852.2(MAPK8IP3):c.2459G>A (p.Ser820Asn)	MAPK8IP3 (S813N +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 3047931	NM_001318852.2(MAPK8IP3):c.2486T>C (p.Leu829Pro)	MAPK8IP3 (L822P +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GLikely benign
Select item 3053688	NM_001318852.2(MAPK8IP3):c.2514G>A (p.Pro838=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 2398173	NM_001318852.2(MAPK8IP3):c.2572G>A (p.Val858Met)	MAPK8IP3 (V858M +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3045477	NM_001318852.2(MAPK8IP3):c.2790G>A (p.Pro930=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 1694773	NM_001318852.2(MAPK8IP3):c.2955G>A (p.Ser985=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3052461	NM_001318852.2(MAPK8IP3):c.3054G>A (p.Ala1018=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GBenign
Select item 3036811	NM_001318852.2(MAPK8IP3):c.3146C>G (p.Ser1049Cys)	MAPK8IP3 (S1042C +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GLikely benign
Select item 2635469	NM_001318852.2(MAPK8IP3):c.3172G>A (p.Asp1058Asn)	MAPK8IP3 (D1051N +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 2645933	NM_001318852.2(MAPK8IP3):c.3175C>T (p.Arg1059Cys)	MAPK8IP3 (R1052C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3031905	NM_001318852.2(MAPK8IP3):c.3348T>C (p.His1116=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 781724	NM_001318852.2(MAPK8IP3):c.3459C>T (p.Val1153=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder +1 more	GBenign
Select item 2633182	NM_001318852.2(MAPK8IP3):c.3567T>G (p.Asn1189Lys)	MAPK8IP3 (N1182K +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 1185537	NM_001318852.2(MAPK8IP3):c.3768G>C (p.Gly1256=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2635099	NM_001318852.2(MAPK8IP3):c.3846C>G (p.Asn1282Lys)	MAPK8IP3 (N1275K +2 more)	Single nucleotide variant (missense variant)	MAPK8IP3-related disorder	GUncertain significance
Select item 3051035	NM_001318852.2(MAPK8IP3):c.3892+7G>T	LOC130058179, MAPK8IP3	Single nucleotide variant (intron variant)	MAPK8IP3-related disorder	GLikely benign
Select item 1675605	NM_001318852.2(MAPK8IP3):c.3892+7G>A	LOC130058179, MAPK8IP3	Single nucleotide variant (intron variant)	MAPK8IP3-related disorder +1 more	GBenign/Likely benign
Select item 3048126	NM_001318852.2(MAPK8IP3):c.3906C>T (p.Asp1302=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	MAPK8IP3-related disorder	GLikely benign
Select item 2645943	NM_001318852.2(MAPK8IP3):c.3915G>A (p.Thr1305=)	MAPK8IP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 51