51776[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 3046499	NM_016653.3(MAP3K20):c.-9C>T	MAP3K20	Single nucleotide variant (5 prime UTR variant)	MAP3K20-related disorder	GLikely benign
Select item 1360457	NM_016653.3(MAP3K20):c.5C>T (p.Ser2Leu)	MAP3K20 (S2L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910870	NM_016653.3(MAP3K20):c.6G>A (p.Ser2=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904437	NM_016653.3(MAP3K20):c.12C>T (p.Leu4=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1897247	NM_016653.3(MAP3K20):c.26T>C (p.Val9Ala)	MAP3K20 (V9A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1630583	NM_016653.3(MAP3K20):c.63C>T (p.Asn21=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531699	NM_016653.3(MAP3K20):c.66C>T (p.Cys22=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2049162	NM_016653.3(MAP3K20):c.71G>C (p.Gly24Ala)	MAP3K20 (G24A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559490	NM_016653.3(MAP3K20):c.102A>G (p.Lys34=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662951	NM_016653.3(MAP3K20):c.123G>A (p.Glu41=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931275	NM_016653.3(MAP3K20):c.155A>G (p.Lys52Arg)	MAP3K20 (K52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943192	NM_016653.3(MAP3K20):c.159+7T>A	MAP3K20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996679	NM_016653.3(MAP3K20):c.159+13C>T	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938598	NM_016653.3(MAP3K20):c.159+18T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3338527	NM_016653.3(MAP3K20):c.159+28133C>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1904124	NM_016653.3(MAP3K20):c.160-19C>T	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003365	NM_016653.3(MAP3K20):c.160-4A>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662466	NM_016653.3(MAP3K20):c.174T>C (p.Ser58=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930147	NM_016653.3(MAP3K20):c.207T>C (p.Tyr69=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2981640	NM_016653.3(MAP3K20):c.234T>C (p.Tyr78=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644404	NM_016653.3(MAP3K20):c.248-18T>A	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022009	NM_016653.3(MAP3K20):c.248-17C>T	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667644	NM_016653.3(MAP3K20):c.248-14T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660234	NM_016653.3(MAP3K20):c.248-12C>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709622	NM_016653.3(MAP3K20):c.248-3T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1446500	NM_016653.3(MAP3K20):c.249A>G (p.Glu83=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960554	NM_016653.3(MAP3K20):c.270C>G (p.Leu90=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446160	NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter)	MAP3K20 (N95*)	Duplication (nonsense)	Split-foot malformation-mesoaxial polydactyly syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2042007	NM_016653.3(MAP3K20):c.282T>G (p.Ile94Met)	MAP3K20 (I94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133244	NM_016653.3(MAP3K20):c.299A>C (p.Glu100Ala)	MAP3K20 (E100A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492925	NM_016653.3(MAP3K20):c.326C>T (p.Thr109Ile)	MAP3K20 (T109I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650932	NM_016653.3(MAP3K20):c.349+7A>T	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905797	NM_016653.3(MAP3K20):c.349+16A>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1928346	NM_016653.3(MAP3K20):c.349+18A>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1938299	NM_016653.3(MAP3K20):c.350-13_350-11del	MAP3K20	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1619952	NM_016653.3(MAP3K20):c.350-8G>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358988	NM_016653.3(MAP3K20):c.356A>G (p.His119Arg)	MAP3K20 (H119R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960413	NM_016653.3(MAP3K20):c.373G>A (p.Ala125Thr)	MAP3K20 (A125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017035	NM_016653.3(MAP3K20):c.402C>G (p.Leu134=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813489	NM_016653.3(MAP3K20):c.408A>C (p.Ser136=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354218	NM_016653.3(MAP3K20):c.414C>T (p.Asn138=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1377265	NM_016653.3(MAP3K20):c.415+5dup	MAP3K20	Duplication (intron variant)	not provided	GUncertain significance
Select item 1546253	NM_016653.3(MAP3K20):c.415+8A>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632729	NM_016653.3(MAP3K20):c.415+13T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995286	NM_016653.3(MAP3K20):c.415+20A>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998241	NM_016653.3(MAP3K20):c.416-12_416-11del	MAP3K20	Deletion (intron variant)	not provided	GLikely benign
Select item 2986717	NM_016653.3(MAP3K20):c.416-16T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739729	NM_016653.3(MAP3K20):c.416-5T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632171	NM_016653.3(MAP3K20):c.417T>C (p.Val139=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955584	NM_016653.3(MAP3K20):c.421A>G (p.Ile141Val)	MAP3K20 (I141V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818147	NM_016653.3(MAP3K20):c.432T>C (p.Asp144=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174343	NM_016653.3(MAP3K20):c.439T>C (p.Leu147=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1979108	NM_016653.3(MAP3K20):c.444+4G>T	MAP3K20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2844282	NM_016653.3(MAP3K20):c.444+13C>A	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529837	NM_016653.3(MAP3K20):c.444+17T>A	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005291	NM_016653.3(MAP3K20):c.444+19C>G	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263549	NM_016653.3(MAP3K20):c.445-37A>G	MAP3K20	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 6, with fiber-type disproportion +2 more	GBenign
Select item 2986581	NM_016653.3(MAP3K20):c.445-19C>T	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631123	NM_016653.3(MAP3K20):c.445-14T>A	MAP3K20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825831	NM_016653.3(MAP3K20):c.464C>T (p.Ser155Phe)	MAP3K20 (S155F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945231	NM_016653.3(MAP3K20):c.468G>T (p.Arg156=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447669	NM_016653.3(MAP3K20):c.490A>T (p.Met164Leu)	MAP3K20 (M164L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446158	NM_016653.3(MAP3K20):c.490_491del (p.Met164fs)	MAP3K20 (M164fs)	Deletion (frameshift variant)	Centronuclear myopathy	GPathogenic
Select item 3380851	NM_016653.3(MAP3K20):c.499G>A (p.Val167Ile)	MAP3K20 (V167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446159	NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter)	MAP3K20 (W172*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1655559	NM_016653.3(MAP3K20):c.543C>T (p.Leu181=)	MAP3K20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1478960	NM_016653.3(MAP3K20):c.544C>T (p.Pro182Ser)	MAP3K20 (P182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695259	NM_016653.3(MAP3K20):c.549_550del (p.Ser184fs)	MAP3K20 (S184fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1950439	NM_016653.3(MAP3K20):c.582+7T>C	MAP3K20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2076985	NM_016653.3(MAP3K20):c.582+20_582+22del	MAP3K20	Deletion (intron variant)	not provided	GUncertain significance
Select item 1225410	NM_016653.3(MAP3K20):c.583-159A>G	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1529146	NM_016653.3(MAP3K20):c.583-18A>G	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2965529	NM_016653.3(MAP3K20):c.583-11T>G	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2806162	NM_016653.3(MAP3K20):c.583-4C>A	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1379843	NM_016653.3(MAP3K20):c.586C>G (p.Leu196Val)	MAP3K20, MAP3K20-AS1 (L196V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2995336	NM_016653.3(MAP3K20):c.588C>T (p.Leu196=)	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2916996	NM_016653.3(MAP3K20):c.600A>G (p.Leu200=)	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1619777	NM_016653.3(MAP3K20):c.612C>T (p.Val204=)	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2016531	NM_016653.3(MAP3K20):c.619A>C (p.Lys207Gln)	MAP3K20, MAP3K20-AS1 (K207Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1351822	NM_016653.3(MAP3K20):c.623G>A (p.Gly208Asp)	MAP3K20, MAP3K20-AS1 (G208D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1594991	NM_016653.3(MAP3K20):c.625T>C (p.Leu209=)	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1553263	NM_016653.3(MAP3K20):c.645T>C (p.Ala215=)	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2236453	NM_016653.3(MAP3K20):c.664A>G (p.Asn222Asp)	MAP3K20, MAP3K20-AS1 (N222D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2965379	NM_016653.3(MAP3K20):c.669+9A>G	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1910529	NM_016653.3(MAP3K20):c.669+12T>G	MAP3K20, MAP3K20-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1518652	NM_016653.3(MAP3K20):c.670-11_670-8del	MAP3K20, MAP3K20-AS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1958845	NM_016653.3(MAP3K20):c.670-12_670-11delinsGC	MAP3K20, MAP3K20-AS1	Indel (intron variant)	not provided	GUncertain significance
Select item 1372844	NM_016653.3(MAP3K20):c.670-11_670-10del	MAP3K20, MAP3K20-AS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1178388	NM_016653.3(MAP3K20):c.670-11G>C	MAP3K20, MAP3K20-AS1	Single nucleotide variant (intron variant)	Split-foot malformation-mesoaxial polydactyly syndrome +2 more	GBenign
Select item 2193389	NM_016653.3(MAP3K20):c.670-4G>A	MAP3K20, MAP3K20-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1368385	NM_016653.3(MAP3K20):c.676A>G (p.Thr226Ala)	MAP3K20, MAP3K20-AS1 (T226A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020951	NM_016653.3(MAP3K20):c.682C>T (p.Pro228Ser)	MAP3K20, MAP3K20-AS1 (P228S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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