9479[geneid] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC130005592, LOC130005593 +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +78 more	Copy number loss	See cases	GPathogenic
Select item 3051609	NM_005456.4(MAPK8IP1):c.-5C>T	LOC130005631, MAPK8IP1	Single nucleotide variant (5 prime UTR variant)	MAPK8IP1-related condition	GLikely benign
Select item 2538701	NM_005456.4(MAPK8IP1):c.19G>C (p.Gly7Arg)	LOC130005631, MAPK8IP1 (G7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224628	NM_005456.4(MAPK8IP1):c.32G>C (p.Gly11Ala)	LOC130005631, MAPK8IP1 (G11A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546079	NM_005456.4(MAPK8IP1):c.52G>C (p.Ala18Pro)	LOC130005631, MAPK8IP1 (A18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312544	NM_005456.4(MAPK8IP1):c.82G>C (p.Ala28Pro)	LOC130005631, MAPK8IP1 (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2291784	NM_005456.4(MAPK8IP1):c.209C>T (p.Pro70Leu)	LOC112081396, MAPK8IP1 (P70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512263	NM_005456.4(MAPK8IP1):c.224T>C (p.Leu75Pro)	MAPK8IP1 (L75P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356415	NM_005456.4(MAPK8IP1):c.227T>C (p.Leu76Pro)	MAPK8IP1 (L76P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GLikely benign
Select item 2405361	NM_005456.4(MAPK8IP1):c.330G>C (p.Glu110Asp)	MAPK8IP1 (E110D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031997	NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related condition	GLikely benign
Select item 2548054	NM_005456.4(MAPK8IP1):c.464C>T (p.Thr155Met)	MAPK8IP1 (T155M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318963	NM_005456.4(MAPK8IP1):c.556C>T (p.His186Tyr)	MAPK8IP1 (H186Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253719	NM_005456.4(MAPK8IP1):c.581G>A (p.Arg194Gln)	MAPK8IP1 (R194Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460811	NM_005456.4(MAPK8IP1):c.658C>G (p.Gln220Glu)	MAPK8IP1 (Q220E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373876	NM_005456.4(MAPK8IP1):c.659A>C (p.Gln220Pro)	MAPK8IP1 (Q220P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305449	NM_005456.4(MAPK8IP1):c.673C>T (p.Pro225Ser)	MAPK8IP1 (P225S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389228	NM_005456.4(MAPK8IP1):c.686G>A (p.Arg229Gln)	MAPK8IP1 (R229Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466069	NM_005456.4(MAPK8IP1):c.713G>A (p.Arg238His)	MAPK8IP1 (R238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2513063	NM_005456.4(MAPK8IP1):c.781C>T (p.His261Tyr)	MAPK8IP1 (H261Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515212	NM_005456.4(MAPK8IP1):c.934G>A (p.Asp312Asn)	MAPK8IP1 (D312N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045870	NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related condition	GLikely benign
Select item 3049905	NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related condition	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 2262084	NM_005456.4(MAPK8IP1):c.1081C>T (p.Pro361Ser)	MAPK8IP1 (P361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214789	NM_005456.4(MAPK8IP1):c.1090C>T (p.Arg364Trp)	MAPK8IP1 (R364W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484876	NM_005456.4(MAPK8IP1):c.1117G>A (p.Ala373Thr)	MAPK8IP1 (A373T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589728	NM_005456.4(MAPK8IP1):c.1190G>A (p.Arg397Gln)	MAPK8IP1 (R397Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217147	NM_005456.4(MAPK8IP1):c.1201G>A (p.Gly401Arg)	MAPK8IP1 (G401R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545327	NM_005456.4(MAPK8IP1):c.1237T>C (p.Tyr413His)	MAPK8IP1 (Y413H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331876	NM_005456.4(MAPK8IP1):c.1238A>G (p.Tyr413Cys)	MAPK8IP1 (Y413C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2593256	NM_005456.4(MAPK8IP1):c.1402C>T (p.Arg468Cys)	MAPK8IP1 (R468C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2465107	NM_005456.4(MAPK8IP1):c.1703G>A (p.Arg568Gln)	MAPK8IP1 (R568Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340090	NM_005456.4(MAPK8IP1):c.1744G>A (p.Gly582Ser)	MAPK8IP1 (G582S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557634	NM_005456.4(MAPK8IP1):c.1909C>T (p.His637Tyr)	MAPK8IP1 (H637Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063195	GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684643	GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1483268	NC_000011.9:g.(?_45827353)_(45932533_?)dup	CRY2, FREY1 +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance
Select item 1457696	NC_000011.9:g.(?_45827353)_(46401497_?)del	CREB3L1, CRY2 +7 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, PRDM11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 832501	NC_000011.10:g.(?_45805782)_(45910982_?)dup	MAPK8IP1, CRY2 +3 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 61