ClinVar for Gene (Select 5597) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293236	NM_002748.4(MAPK6):c.689C>T (p.Thr230Ile)	MAPK6 (T230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293235	NM_002748.4(MAPK6):c.1543G>T (p.Ala515Ser)	MAPK6 (A515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293234	NM_002748.4(MAPK6):c.1957G>C (p.Gly653Arg)	MAPK6 (G653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123282	NM_002748.4(MAPK6):c.926A>C (p.Glu309Ala)	MAPK6 (E309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123281	NM_002748.4(MAPK6):c.783C>A (p.Ser261Arg)	MAPK6 (S261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123280	NM_002748.4(MAPK6):c.2083G>A (p.Ala695Thr)	MAPK6 (A695T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123279	NM_002748.4(MAPK6):c.1829T>C (p.Phe610Ser)	MAPK6 (F610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123278	NM_002748.4(MAPK6):c.1546G>A (p.Gly516Arg)	MAPK6 (G516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123277	NM_002748.4(MAPK6):c.1034A>G (p.Asp345Gly)	MAPK6 (D345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2617286	NM_002748.4(MAPK6):c.1970A>G (p.His657Arg)	MAPK6 (H657R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608430	NM_002748.4(MAPK6):c.1031T>C (p.Met344Thr)	MAPK6 (M344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593986	NM_002748.4(MAPK6):c.673A>T (p.Met225Leu)	MAPK6 (M225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569608	NM_002748.4(MAPK6):c.1247A>C (p.Asp416Ala)	MAPK6 (D416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559258	NM_002748.4(MAPK6):c.1609C>G (p.Leu537Val)	MAPK6 (L537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552735	NM_002748.4(MAPK6):c.1765T>C (p.Tyr589His)	MAPK6 (Y589H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521902	NM_002748.4(MAPK6):c.1214A>G (p.Asp405Gly)	MAPK6 (D405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490684	NM_002748.4(MAPK6):c.1079G>C (p.Cys360Ser)	MAPK6 (C360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2386260	NM_002748.4(MAPK6):c.653C>G (p.Ala218Gly)	MAPK6 (A218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356772	NM_002748.4(MAPK6):c.1217G>A (p.Arg406Gln)	MAPK6 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355331	NM_002748.4(MAPK6):c.1964G>A (p.Arg655Lys)	MAPK6 (R655K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335718	NM_002748.4(MAPK6):c.1253A>G (p.Asn418Ser)	MAPK6 (N418S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287180	NM_002748.4(MAPK6):c.1544C>G (p.Ala515Gly)	MAPK6 (A515G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278250	NM_002748.4(MAPK6):c.767G>A (p.Arg256His)	MAPK6 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272738	NM_002748.4(MAPK6):c.475T>C (p.Phe159Leu)	MAPK6 (F159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231034	NM_002748.4(MAPK6):c.1343C>A (p.Thr448Lys)	MAPK6 (T448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980039	GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1	LEO1, TMOD3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 980038	GRCh37/hg19 15q21.2(chr15:52198882-52573715)x4	MAPK6, BCL2L10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 688472	GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1	BCL2L10, DMXL2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 686446	GRCh37/hg19 15q21.2(chr15:52326471-52425740)x3	BCL2L10, GNB5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686344	GRCh37/hg19 15q21.2(chr15:52326567-52425740)x3	BCL2L10, GNB5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564204	GRCh37/hg19 15q21.2(chr15:52247897-52335721)x1	LEO1, MAPK6	Copy number loss	not provided	GUncertain significance
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 58220	GRCh38/hg38 15q21.2(chr15:52005056-52098273)x1	LOC108281154, LOC125078080 +13 more	Copy number loss	See cases	GUncertain significance
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic

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Links from Gene

Items: 54