ClinVar for Gene (Select 389840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370375	GRCh38/hg38 Xp22.13-22.12(chrX:19082709-19533992)x3	ADGRG2, LOC130068003 +4 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3347677	NM_001001671.4(MAP3K15):c.1621C>T (p.Gln541Ter)	MAP3K15 (Q541*)	Single nucleotide variant (nonsense)	MAP3K15-related disorder	GUncertain significance
Select item 3293030	NM_001001671.4(MAP3K15):c.1132A>G (p.Lys378Glu)	MAP3K15 (K378E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293029	NM_001001671.4(MAP3K15):c.3709G>A (p.Gly1237Arg)	MAP3K15, PDHA1 (G1237R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293028	NM_001001671.4(MAP3K15):c.625A>C (p.Met209Leu)	MAP3K15 (M209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293027	NM_001001671.4(MAP3K15):c.899C>T (p.Ala300Val)	MAP3K15 (A300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293026	NM_001001671.4(MAP3K15):c.818G>A (p.Arg273His)	MAP3K15 (R273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293025	NM_001001671.4(MAP3K15):c.1210A>G (p.Ile404Val)	MAP3K15 (I404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293024	NM_001001671.4(MAP3K15):c.3709G>T (p.Gly1237Trp)	MAP3K15, PDHA1 (G1237W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293023	NM_001001671.4(MAP3K15):c.1623G>T (p.Gln541His)	MAP3K15 (Q541H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293022	NM_001001671.4(MAP3K15):c.3839T>C (p.Leu1280Pro)	MAP3K15, PDHA1 (L1280P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293021	NM_001001671.4(MAP3K15):c.1954A>C (p.Asn652His)	MAP3K15 (N652H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293020	NM_001001671.4(MAP3K15):c.169C>T (p.Pro57Ser)	MAP3K15 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293019	NM_001001671.4(MAP3K15):c.2905C>T (p.Pro969Ser)	MAP3K15 (P969S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293018	NM_001001671.4(MAP3K15):c.2881G>A (p.Ala961Thr)	MAP3K15 (A961T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246884	NC_000023.10:g.(?_19362156)_(19613138_?)dup	MAP3K15, PDHA1 +1 more	Duplication	not provided	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3122908	NM_001001671.4(MAP3K15):c.806G>A (p.Arg269Gln)	MAP3K15 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122907	NM_001001671.4(MAP3K15):c.448A>G (p.Asn150Asp)	MAP3K15 (N150D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122906	NM_001001671.4(MAP3K15):c.3856C>T (p.Arg1286Trp)	MAP3K15, PDHA1 (R1286W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122905	NM_001001671.4(MAP3K15):c.3808G>T (p.Asp1270Tyr)	MAP3K15, PDHA1 (D1270Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122904	NM_001001671.4(MAP3K15):c.3793G>A (p.Gly1265Ser)	MAP3K15, PDHA1 (G1265S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122903	NM_001001671.4(MAP3K15):c.3773T>C (p.Ile1258Thr)	MAP3K15, PDHA1 (I1258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122901	NM_001001671.4(MAP3K15):c.3668T>C (p.Leu1223Ser)	MAP3K15 (L1223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122900	NM_001001671.4(MAP3K15):c.3155T>C (p.Ile1052Thr)	MAP3K15 (I1052T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122898	NM_001001671.4(MAP3K15):c.3035G>A (p.Arg1012His)	MAP3K15 (R1012H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122897	NM_001001671.4(MAP3K15):c.2729A>G (p.Gln910Arg)	MAP3K15 (Q910R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122896	NM_001001671.4(MAP3K15):c.2668G>A (p.Glu890Lys)	MAP3K15 (E890K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122895	NM_001001671.4(MAP3K15):c.2308G>A (p.Val770Met)	MAP3K15 (V770M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122894	NM_001001671.4(MAP3K15):c.2200C>T (p.Leu734Phe)	MAP3K15 (L734F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122893	NM_001001671.4(MAP3K15):c.2191G>A (p.Gly731Arg)	MAP3K15 (G731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122891	NM_001001671.4(MAP3K15):c.1790A>G (p.His597Arg)	MAP3K15 (H597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122889	NM_001001671.4(MAP3K15):c.1742G>A (p.Gly581Glu)	MAP3K15 (G581E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122888	NM_001001671.4(MAP3K15):c.1711G>A (p.Glu571Lys)	MAP3K15 (E571K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122887	NM_001001671.4(MAP3K15):c.1517A>G (p.Gln506Arg)	MAP3K15 (Q506R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122885	NM_001001671.4(MAP3K15):c.1448G>A (p.Arg483Gln)	MAP3K15 (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122884	NM_001001671.4(MAP3K15):c.1295G>C (p.Ser432Thr)	MAP3K15 (S432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122883	NM_001001671.4(MAP3K15):c.1286G>A (p.Arg429Gln)	MAP3K15 (R429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122880	NM_001001671.4(MAP3K15):c.1147C>T (p.Arg383Cys)	MAP3K15 (R383C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122879	NM_001001671.4(MAP3K15):c.1051C>G (p.Gln351Glu)	MAP3K15 (Q351E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122878	NM_001001671.4(MAP3K15):c.1036A>G (p.Met346Val)	MAP3K15 (M346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3060782	NM_000284.4(PDHA1):c.1089_1092dup	MAP3K15, PDHA1	Duplication (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 3060122	NM_001001671.4(MAP3K15):c.574G>A (p.Ala192Thr)	MAP3K15 (A192T)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3053533	NM_001001671.4(MAP3K15):c.2512G>A (p.Gly838Ser)	MAP3K15 (G838S)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3052568	NM_001001671.4(MAP3K15):c.1893G>A (p.Thr631=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3052142	NM_001001671.4(MAP3K15):c.791C>T (p.Ala264Val)	MAP3K15 (A264V)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GLikely benign
Select item 3051996	NM_001001671.4(MAP3K15):c.1369A>G (p.Met457Val)	MAP3K15 (M457V)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GLikely benign
Select item 3048709	NM_001001671.4(MAP3K15):c.2790C>T (p.Val930=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3048237	NM_001001671.4(MAP3K15):c.3599_3600del (p.Glu1200fs)	MAP3K15 (E1200fs)	Microsatellite (frameshift variant)	MAP3K15-related disorder	GLikely benign
Select item 3048204	NM_001001671.4(MAP3K15):c.3295-4_3295-3dup	MAP3K15	Duplication (intron variant)	MAP3K15-related disorder	GLikely benign
Select item 3047385	NM_001001671.4(MAP3K15):c.2868C>T (p.Asp956=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3045401	NM_001001671.4(MAP3K15):c.2865C>T (p.Ser955=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3044852	NM_001001671.4(MAP3K15):c.1480C>T (p.Arg494Cys)	MAP3K15 (R494C)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3043053	NM_001001671.4(MAP3K15):c.1509G>A (p.Ser503=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3042136	NM_001001671.4(MAP3K15):c.1366A>G (p.Ser456Gly)	MAP3K15 (S456G)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3041213	NM_001001671.4(MAP3K15):c.1926C>T (p.Thr642=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3040537	NM_001001671.4(MAP3K15):c.3567-13_3567-8del	MAP3K15	Deletion (intron variant)	MAP3K15-related disorder	GLikely benign
Select item 3039349	NM_001001671.4(MAP3K15):c.3295-4_3295-3del	MAP3K15	Deletion (intron variant)	MAP3K15-related disorder	GBenign
Select item 3038873	NM_001001671.4(MAP3K15):c.1710C>T (p.His570=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3038332	NM_001001671.4(MAP3K15):c.2466C>T (p.Asp822=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3038199	NM_001001671.4(MAP3K15):c.2328C>T (p.Gly776=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3037954	NM_001001671.4(MAP3K15):c.2085C>T (p.His695=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3037530	NM_001001671.4(MAP3K15):c.719+9C>T	MAP3K15	Single nucleotide variant (intron variant)	MAP3K15-related disorder	GBenign
Select item 3037357	NM_001001671.4(MAP3K15):c.2978C>T (p.Ser993Leu)	MAP3K15 (S993L)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3035889	NM_001001671.4(MAP3K15):c.552C>T (p.Ile184=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GLikely benign
Select item 3035324	NM_001001671.4(MAP3K15):c.2627C>G (p.Ala876Gly)	MAP3K15 (A876G)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3035184	NM_001001671.4(MAP3K15):c.2356G>A (p.Gly786Arg)	MAP3K15 (G786R)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GBenign
Select item 3034999	NM_001001671.4(MAP3K15):c.2076G>A (p.Gln692=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3033963	NM_001001671.4(MAP3K15):c.1369A>C (p.Met457Leu)	MAP3K15 (M457L)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GLikely benign
Select item 3033732	NM_001001671.4(MAP3K15):c.1440-1G>T	MAP3K15	Single nucleotide variant (splice acceptor variant)	MAP3K15-related disorder	GLikely benign
Select item 3033464	NM_001001671.4(MAP3K15):c.1971C>T (p.Val657=)	MAP3K15	Single nucleotide variant (synonymous variant)	MAP3K15-related disorder	GBenign
Select item 3024651	GRCh37/hg19 Xp22.12(chrX:19425306-19817802)x1	MAP3K15, SH3KBP1	Copy number loss	not provided	GUncertain significance
Select item 2689398	NM_001001671.4(MAP3K15):c.2575G>A (p.Ala859Thr)	MAP3K15 (A859T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2660132	NM_001001671.4(MAP3K15):c.657G>C (p.Pro219=)	MAP3K15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660131	NM_001001671.4(MAP3K15):c.1206G>A (p.Ser402=)	MAP3K15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660130	NM_001001671.4(MAP3K15):c.2208T>C (p.Ala736=)	MAP3K15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660129	NM_001001671.4(MAP3K15):c.2984C>T (p.Pro995Leu)	MAP3K15 (P995L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660128	NM_001001671.4(MAP3K15):c.3117A>G (p.Glu1039=)	MAP3K15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660127	NM_001001671.4(MAP3K15):c.3249G>A (p.Ser1083=)	MAP3K15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660126	NM_001001671.4(MAP3K15):c.3750G>A (p.Leu1250=)	MAP3K15, PDHA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660125	NM_000284.4(PDHA1):c.*1302G>A	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2636120	NM_001001671.4(MAP3K15):c.3686C>G (p.Thr1229Arg)	MAP3K15, PDHA1 (T1229R)	Single nucleotide variant (missense variant +1 more)	MAP3K15-related disorder	GUncertain significance
Select item 2634078	NM_001001671.4(MAP3K15):c.233del (p.Gly78fs)	MAP3K15 (G78fs)	Deletion (frameshift variant)	MAP3K15-related disorder	GUncertain significance
Select item 2628808	NM_001001671.4(MAP3K15):c.884T>G (p.Ile295Ser)	MAP3K15 (I295S)	Single nucleotide variant (missense variant)	MAP3K15-related disorder	GUncertain significance
Select item 2621589	NM_001001671.4(MAP3K15):c.1892C>T (p.Thr631Met)	MAP3K15 (T631M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614928	NM_001001671.4(MAP3K15):c.1403C>T (p.Ala468Val)	MAP3K15 (A468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611326	NM_001001671.4(MAP3K15):c.217G>T (p.Gly73Cys)	MAP3K15 (G73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608204	NM_001001671.4(MAP3K15):c.3118G>C (p.Glu1040Gln)	MAP3K15 (E1040Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600326	NM_001001671.4(MAP3K15):c.2387C>T (p.Ser796Leu)	MAP3K15 (S796L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597193	NM_001001671.4(MAP3K15):c.3353A>T (p.Asn1118Ile)	MAP3K15 (N1118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568725	NM_001001671.4(MAP3K15):c.205G>A (p.Glu69Lys)	MAP3K15 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547253	NM_001001671.4(MAP3K15):c.930G>A (p.Met310Ile)	MAP3K15 (M310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547252	NM_001001671.4(MAP3K15):c.1477C>T (p.Arg493Trp)	MAP3K15 (R493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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