ClinVar for Gene (Select 4217) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293077	NM_005923.4(MAP3K5):c.2966C>T (p.Thr989Met)	MAP3K5 (T989M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293076	NM_005923.4(MAP3K5):c.3112G>T (p.Asp1038Tyr)	MAP3K5 (D1038Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293075	NM_005923.4(MAP3K5):c.2234G>T (p.Ser745Ile)	MAP3K5 (S745I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293073	NM_005923.4(MAP3K5):c.2609C>A (p.Thr870Lys)	MAP3K5 (T870K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293072	NM_005923.4(MAP3K5):c.1136T>G (p.Val379Gly)	MAP3K5 (V379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293071	NM_005923.4(MAP3K5):c.3071A>G (p.Asn1024Ser)	MAP3K5 (N1024S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293070	NM_005923.4(MAP3K5):c.3455T>C (p.Met1152Thr)	MAP3K5 (M1152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246073	NC_000006.11:g.(?_135606783)_(138202456_?)del	AHI1, BCLAF1 +12 more	Deletion	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 3122989	NM_005923.4(MAP3K5):c.833A>G (p.Asn278Ser)	MAP3K5 (N278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122988	NM_005923.4(MAP3K5):c.824C>G (p.Ser275Cys)	MAP3K5 (S275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122987	NM_005923.4(MAP3K5):c.566C>T (p.Ser189Leu)	MAP3K5 (S189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122986	NM_005923.4(MAP3K5):c.4018G>A (p.Val1340Ile)	MAP3K5 (V1340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122985	NM_005923.4(MAP3K5):c.3701C>T (p.Ser1234Phe)	MAP3K5 (S1234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122984	NM_005923.4(MAP3K5):c.2947G>A (p.Gly983Ser)	MAP3K5 (G983S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122983	NM_005923.4(MAP3K5):c.2815A>G (p.Lys939Glu)	MAP3K5 (K939E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122982	NM_005923.4(MAP3K5):c.269G>A (p.Arg90Gln)	LOC129997240, MAP3K5 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122981	NM_005923.4(MAP3K5):c.2494A>G (p.Ile832Val)	MAP3K5 (I832V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122980	NM_005923.4(MAP3K5):c.2491G>A (p.Gly831Ser)	MAP3K5 (G831S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122979	NM_005923.4(MAP3K5):c.1972G>A (p.Gly658Arg)	MAP3K5, MAP3K5-AS1 (G658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122978	NM_005923.4(MAP3K5):c.1657G>A (p.Asp553Asn)	MAP3K5 (D553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122977	NM_005923.4(MAP3K5):c.1651A>G (p.Lys551Glu)	MAP3K5 (K551E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122976	NM_005923.4(MAP3K5):c.1364T>C (p.Val455Ala)	MAP3K5 (V455A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122975	NM_005923.4(MAP3K5):c.1043A>G (p.His348Arg)	MAP3K5 (H348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122974	NM_005923.4(MAP3K5):c.1039T>G (p.Ser347Ala)	MAP3K5 (S347A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122973	NM_005923.4(MAP3K5):c.1030G>A (p.Asp344Asn)	MAP3K5 (D344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2656932	NC_000006.12:g.136792731T>A	LOC129997242, MAP3K5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2615570	NM_005923.4(MAP3K5):c.4096A>C (p.Ile1366Leu)	MAP3K5 (I1366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614477	NM_005923.4(MAP3K5):c.4057A>G (p.Arg1353Gly)	MAP3K5 (R1353G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607541	NM_005923.4(MAP3K5):c.3418A>G (p.Lys1140Glu)	MAP3K5 (K1140E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606536	NM_005923.4(MAP3K5):c.2828A>G (p.Lys943Arg)	MAP3K5 (K943R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603642	NM_005923.4(MAP3K5):c.3041G>A (p.Arg1014Gln)	MAP3K5 (R1014Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596783	NM_005923.4(MAP3K5):c.1586C>T (p.Thr529Ile)	MAP3K5 (T529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552631	NM_005923.4(MAP3K5):c.3271A>G (p.Ile1091Val)	MAP3K5 (I1091V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529271	NM_005923.4(MAP3K5):c.851G>A (p.Arg284His)	MAP3K5 (R284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490477	NM_005923.4(MAP3K5):c.19G>C (p.Glu7Gln)	LOC129997241, MAP3K5 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475198	NM_005923.4(MAP3K5):c.3667G>A (p.Val1223Met)	MAP3K5 (V1223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471167	NM_005923.4(MAP3K5):c.113T>C (p.Val38Ala)	MAP3K5 (V38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467548	NM_005923.4(MAP3K5):c.2723C>T (p.Ser908Phe)	MAP3K5 (S908F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454802	NM_005923.4(MAP3K5):c.1241A>G (p.His414Arg)	MAP3K5 (H414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410315	NM_005923.4(MAP3K5):c.2932A>G (p.Ser978Gly)	MAP3K5 (S978G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408426	NM_005923.4(MAP3K5):c.767G>A (p.Arg256His)	MAP3K5 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398223	NM_005923.4(MAP3K5):c.1814G>T (p.Ser605Ile)	MAP3K5, MAP3K5-AS1 (S605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396206	NM_005923.4(MAP3K5):c.4100T>C (p.Ile1367Thr)	MAP3K5 (I1367T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356119	NM_005923.4(MAP3K5):c.2069C>T (p.Thr690Ile)	MAP3K5 (T690I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345391	NM_005923.4(MAP3K5):c.3715C>T (p.Arg1239Trp)	MAP3K5 (R1239W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327927	NM_005923.4(MAP3K5):c.2284C>G (p.Leu762Val)	MAP3K5 (L762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304631	NM_005923.4(MAP3K5):c.2404C>T (p.Arg802Trp)	MAP3K5 (R802W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298271	NM_005923.4(MAP3K5):c.2225G>A (p.Gly742Asp)	MAP3K5 (G742D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295628	NM_005923.4(MAP3K5):c.1118A>G (p.Asp373Gly)	MAP3K5 (D373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288413	NM_005923.4(MAP3K5):c.1729A>G (p.Ile577Val)	MAP3K5 (I577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280679	NM_005923.4(MAP3K5):c.1979G>A (p.Ser660Asn)	MAP3K5, MAP3K5-AS1 (S660N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254272	NM_005923.4(MAP3K5):c.2405G>A (p.Arg802Gln)	MAP3K5 (R802Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246257	NM_005923.4(MAP3K5):c.1456G>A (p.Val486Ile)	MAP3K5 (V486I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233228	NM_005923.4(MAP3K5):c.166A>G (p.Asn56Asp)	MAP3K5 (N56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226583	NM_005923.4(MAP3K5):c.3707G>A (p.Ser1236Asn)	MAP3K5 (S1236N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219182	NM_005923.4(MAP3K5):c.260G>A (p.Gly87Asp)	LOC129997240, MAP3K5 (G87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214921	NM_005923.4(MAP3K5):c.401A>G (p.Lys134Arg)	MAP3K5 (K134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	BCLAF1, IFNGR1 +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 792056	NM_005923.4(MAP3K5):c.3321C>T (p.Ala1107=)	MAP3K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785189	NM_005923.4(MAP3K5):c.24C>T (p.Gly8=)	LOC129997241, MAP3K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775243	NM_005923.4(MAP3K5):c.1838+9C>T	MAP3K5, MAP3K5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736322	NM_005923.4(MAP3K5):c.3748A>G (p.Ile1250Val)	MAP3K5 (I1250V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734375	NM_005923.4(MAP3K5):c.3015C>T (p.Cys1005=)	MAP3K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729678	NM_005923.4(MAP3K5):c.1497A>G (p.Glu499=)	MAP3K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716071	NM_005923.4(MAP3K5):c.2150+10T>C	MAP3K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709424	NM_005923.4(MAP3K5):c.2278+8A>G	MAP3K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687638	GRCh37/hg19 6q23.3(chr6:137057372-137134336)x3	MAP3K5	Copy number gain	not provided	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 58155	GRCh38/hg38 6q23.3(chr6:136745817-136859553)x3	LOC113146415, LOC123864077 +15 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 85