MAPK8IP1[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5419	NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)	MAPK8IP1 (S59N)	Single nucleotide variant (missense variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 3293249	NM_005456.4(MAPK8IP1):c.206G>A (p.Arg69Gln)	MAPK8IP1 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512263	NM_005456.4(MAPK8IP1):c.224T>C (p.Leu75Pro)	MAPK8IP1 (L75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356415	NM_005456.4(MAPK8IP1):c.227T>C (p.Leu76Pro)	MAPK8IP1 (L76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050681	NM_005456.4(MAPK8IP1):c.236GCG[5] (p.Gly82dup)	MAPK8IP1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3030822	NM_005456.4(MAPK8IP1):c.267C>T (p.Ala89=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 2405361	NM_005456.4(MAPK8IP1):c.330G>C (p.Glu110Asp)	MAPK8IP1 (E110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123305	NM_005456.4(MAPK8IP1):c.365C>T (p.Pro122Leu)	MAPK8IP1 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031997	NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 3123306	NM_005456.4(MAPK8IP1):c.392C>G (p.Ser131Cys)	MAPK8IP1 (S131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548054	NM_005456.4(MAPK8IP1):c.464C>T (p.Thr155Met)	MAPK8IP1 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123307	NM_005456.4(MAPK8IP1):c.476A>G (p.Lys159Arg)	MAPK8IP1 (K159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318963	NM_005456.4(MAPK8IP1):c.556C>T (p.His186Tyr)	MAPK8IP1 (H186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253719	NM_005456.4(MAPK8IP1):c.581G>A (p.Arg194Gln)	MAPK8IP1 (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293245	NM_005456.4(MAPK8IP1):c.611A>C (p.Gln204Pro)	MAPK8IP1 (Q204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293244	NM_005456.4(MAPK8IP1):c.614C>T (p.Thr205Ile)	MAPK8IP1 (T205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293246	NM_005456.4(MAPK8IP1):c.653C>T (p.Pro218Leu)	MAPK8IP1 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460811	NM_005456.4(MAPK8IP1):c.658C>G (p.Gln220Glu)	MAPK8IP1 (Q220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373876	NM_005456.4(MAPK8IP1):c.659A>C (p.Gln220Pro)	MAPK8IP1 (Q220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123309	NM_005456.4(MAPK8IP1):c.665G>A (p.Gly222Asp)	MAPK8IP1 (G222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305449	NM_005456.4(MAPK8IP1):c.673C>T (p.Pro225Ser)	MAPK8IP1 (P225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389228	NM_005456.4(MAPK8IP1):c.686G>A (p.Arg229Gln)	MAPK8IP1 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466069	NM_005456.4(MAPK8IP1):c.713G>A (p.Arg238His)	MAPK8IP1 (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049607	NM_005456.4(MAPK8IP1):c.715C>T (p.Arg239Cys)	MAPK8IP1 (R239C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123310	NM_005456.4(MAPK8IP1):c.716G>A (p.Arg239His)	MAPK8IP1 (R239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513063	NM_005456.4(MAPK8IP1):c.781C>T (p.His261Tyr)	MAPK8IP1 (H261Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293251	NM_005456.4(MAPK8IP1):c.785C>T (p.Ser262Leu)	MAPK8IP1 (S262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293247	NM_005456.4(MAPK8IP1):c.829G>A (p.Ala277Thr)	MAPK8IP1 (A277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123312	NM_005456.4(MAPK8IP1):c.926T>C (p.Val309Ala)	MAPK8IP1 (V309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515212	NM_005456.4(MAPK8IP1):c.934G>A (p.Asp312Asn)	MAPK8IP1 (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123298	NM_005456.4(MAPK8IP1):c.1019C>T (p.Ser340Leu)	MAPK8IP1 (S340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045870	NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 3049905	NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 731617	NM_005456.4(MAPK8IP1):c.1058G>A (p.Arg353Gln)	MAPK8IP1 (R353Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3123299	NM_005456.4(MAPK8IP1):c.1064G>C (p.Ser355Thr)	MAPK8IP1 (S355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262084	NM_005456.4(MAPK8IP1):c.1081C>T (p.Pro361Ser)	MAPK8IP1 (P361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214789	NM_005456.4(MAPK8IP1):c.1090C>T (p.Arg364Trp)	MAPK8IP1 (R364W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484876	NM_005456.4(MAPK8IP1):c.1117G>A (p.Ala373Thr)	MAPK8IP1 (A373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589728	NM_005456.4(MAPK8IP1):c.1190G>A (p.Arg397Gln)	MAPK8IP1 (R397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217147	NM_005456.4(MAPK8IP1):c.1201G>A (p.Gly401Arg)	MAPK8IP1 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545327	NM_005456.4(MAPK8IP1):c.1237T>C (p.Tyr413His)	MAPK8IP1 (Y413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331876	NM_005456.4(MAPK8IP1):c.1238A>G (p.Tyr413Cys)	MAPK8IP1 (Y413C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123301	NM_005456.4(MAPK8IP1):c.1262C>T (p.Ser421Leu)	MAPK8IP1 (S421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719350	NM_005456.4(MAPK8IP1):c.1344G>A (p.Thr448=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2403261	NM_005456.4(MAPK8IP1):c.1360G>A (p.Val454Ile)	MAPK8IP1 (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593256	NM_005456.4(MAPK8IP1):c.1402C>T (p.Arg468Cys)	MAPK8IP1 (R468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123303	NM_005456.4(MAPK8IP1):c.1636G>A (p.Glu546Lys)	MAPK8IP1 (E546K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2665083	NM_005456.4(MAPK8IP1):c.1666+5T>C	MAPK8IP1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 3123304	NM_005456.4(MAPK8IP1):c.1702C>T (p.Arg568Trp)	MAPK8IP1 (R568W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465107	NM_005456.4(MAPK8IP1):c.1703G>A (p.Arg568Gln)	MAPK8IP1 (R568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340090	NM_005456.4(MAPK8IP1):c.1744G>A (p.Gly582Ser)	MAPK8IP1 (G582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293250	NM_005456.4(MAPK8IP1):c.1847G>A (p.Arg616Gln)	MAPK8IP1 (R616Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557634	NM_005456.4(MAPK8IP1):c.1909C>T (p.His637Tyr)	MAPK8IP1 (H637Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 53