MAP3K7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	AKIRIN2, ANKRD6 +153 more	Copy number loss	See cases	GPathogenic
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 144893	GRCh38/hg38 6q15(chr6:89931798-91707636)x3	BACH2, CASC6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 151598	GRCh38/hg38 6q15(chr6:90066705-90571680)x3	BACH2, LOC121132699 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148984	GRCh38/hg38 6q15(chr6:90066705-90579827)x3	BACH2, LOC121132699 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2315210	NM_145331.3(MAP3K7):c.1780G>A (p.Val594Ile)	MAP3K7 (V567I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3017757	NM_145331.3(MAP3K7):c.1756C>G (p.Gln586Glu)	MAP3K7 (Q586E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729099	NM_145331.3(MAP3K7):c.1755C>T (p.Tyr585=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2047396	NM_145331.3(MAP3K7):c.1740C>A (p.Ser580Arg)	MAP3K7 (S553R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065364	NM_145331.3(MAP3K7):c.1719G>A (p.Lys573=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899463	NM_145331.3(MAP3K7):c.1707G>A (p.Gln569=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 760823	NM_145331.3(MAP3K7):c.1680C>T (p.Asp560=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662333	NM_145331.3(MAP3K7):c.1673A>T (p.Glu558Val)	MAP3K7 (E531V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912653	NM_145331.3(MAP3K7):c.1672G>A (p.Glu558Lys)	MAP3K7 (E558K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1647605	NM_145331.3(MAP3K7):c.1641-8G>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968800	NM_145331.3(MAP3K7):c.1640+10_1640+16dup	MAP3K7	Duplication (intron variant)	not provided	GLikely benign
Select item 3007247	NM_145331.3(MAP3K7):c.1640+12T>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993920	NM_145331.3(MAP3K7):c.1640+9T>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1722791	NM_145331.3(MAP3K7):c.1603A>G (p.Lys535Glu)	MAP3K7 (K508E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953532	NM_145331.3(MAP3K7):c.1599T>C (p.Tyr533=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1992082	NM_145331.3(MAP3K7):c.1536G>A (p.Pro512=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 264698	NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu)	MAP3K7 (P485L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1276654	NM_145331.3(MAP3K7):c.1525-142T>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598586	NM_145331.3(MAP3K7):c.1524+14T>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2090394	NM_145331.3(MAP3K7):c.1524+5A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2963381	NM_145331.3(MAP3K7):c.1519C>T (p.Leu507=)	MAP3K7	Single nucleotide variant (synonymous variant)	MAP3K7-related condition +1 more	GLikely benign
Select item 1606861	NM_145331.3(MAP3K7):c.1485C>T (p.Ser495=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473103	NM_145331.3(MAP3K7):c.1469A>G (p.Asn490Ser)	MAP3K7 (N463S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624608	NM_145331.3(MAP3K7):c.1463-17A>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287367	NM_145331.3(MAP3K7):c.1462+268G>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1579221	NM_145331.3(MAP3K7):c.1462+20A>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3053177	NM_145331.3(MAP3K7):c.1462+8G>A	MAP3K7	Single nucleotide variant (intron variant)	MAP3K7-related condition	GLikely benign
Select item 1303930	NM_145331.3(MAP3K7):c.1448C>T (p.Pro483Leu)	MAP3K7 (P456L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782878	NM_145331.3(MAP3K7):c.1430G>A (p.Arg477Gln)	MAP3K7 (R450Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724228	NM_145331.3(MAP3K7):c.1428T>A (p.Thr476=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2582212	NM_145331.3(MAP3K7):c.1426A>G (p.Thr476Ala)	MAP3K7 (T449A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002011	NM_145331.3(MAP3K7):c.1413C>T (p.Thr471=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050139	NM_145331.3(MAP3K7):c.1408C>A (p.Pro470Thr)	MAP3K7 (P443T +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2726513	NM_145331.3(MAP3K7):c.1404A>C (p.Ser468=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444794	NM_145331.3(MAP3K7):c.1368_1382del (p.Arg456_Pro460del)	MAP3K7	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2014861	NM_145331.3(MAP3K7):c.1380C>T (p.Pro460=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307980	NM_145331.3(MAP3K7):c.1357G>A (p.Val453Met)	MAP3K7 (V426M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722246	NM_145331.3(MAP3K7):c.1357-10C>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255070	NM_145331.3(MAP3K7):c.1356+49A>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1031662	NM_145331.3(MAP3K7):c.1356+9A>G	MAP3K7	Single nucleotide variant (intron variant)	Frontometaphyseal dysplasia 2	GUncertain significance
Select item 1056350	NM_145331.3(MAP3K7):c.1356+4A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2877113	NM_145331.3(MAP3K7):c.1355A>T (p.Gln452Leu)	MAP3K7 (Q452L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989284	NM_145331.3(MAP3K7):c.1351G>A (p.Gly451Ser)	MAP3K7 (G424S +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 2	GUncertain significance
Select item 1168258	NM_145331.3(MAP3K7):c.1310G>A (p.Arg437His)	MAP3K7 (R410H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2187840	NM_145331.3(MAP3K7):c.1292G>A (p.Gly431Asp)	MAP3K7 (G404D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2768486	NM_145331.3(MAP3K7):c.1292-1G>C	MAP3K7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2881288	NM_145331.3(MAP3K7):c.1292-5T>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 738433	NM_145331.3(MAP3K7):c.1292-10C>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187973	NM_145331.3(MAP3K7):c.1291+4_1291+5del	MAP3K7	Deletion (intron variant)	not provided	GUncertain significance
Select item 2187974	NM_145331.3(MAP3K7):c.1291+3A>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2086592	NM_145331.3(MAP3K7):c.1287A>G (p.Ile429Met)	MAP3K7 (I429M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1154316	NM_145331.3(MAP3K7):c.1282G>A (p.Val428Ile)	MAP3K7 (V428I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1664384	NM_145331.3(MAP3K7):c.1281C>T (p.Ile427=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1665534	NM_145331.3(MAP3K7):c.1279A>G (p.Ile427Val)	MAP3K7 (I427V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2220017	NM_145331.3(MAP3K7):c.1256G>A (p.Gly419Asp)	MAP3K7 (G419D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1561368	NM_145331.3(MAP3K7):c.1248T>C (p.Ala416=)	MAP3K7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1046081	NM_145331.3(MAP3K7):c.1237C>T (p.Arg413Cys)	MAP3K7 (R413C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 853051	NM_145331.3(MAP3K7):c.1232G>A (p.Gly411Asp)	MAP3K7 (G411D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991994	NM_145331.3(MAP3K7):c.1225A>G (p.Lys409Glu)	MAP3K7 (K409E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993498	NM_145331.3(MAP3K7):c.1222C>G (p.Pro408Ala)	MAP3K7 (P408A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509708	NM_145331.3(MAP3K7):c.1217C>G (p.Ser406Cys)	MAP3K7 (S406C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 714317	NM_145331.3(MAP3K7):c.1211-10_1211-9del	MAP3K7	Microsatellite (intron variant)	MAP3K7-related condition +1 more	GBenign
Select item 1654788	NM_145331.3(MAP3K7):c.1211-14A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004784	NM_145331.3(MAP3K7):c.1211-20G>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237637	NM_145331.3(MAP3K7):c.1210+299del	MAP3K7	Deletion (intron variant)	not provided	GBenign
Select item 1288247	NM_145331.3(MAP3K7):c.1210+49T>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2045483	NM_145331.3(MAP3K7):c.1209A>G (p.Thr403=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1988931	NM_145331.3(MAP3K7):c.1197C>T (p.Ile399=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422042	NM_145331.3(MAP3K7):c.1195A>G (p.Ile399Val)	MAP3K7 (I399V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2357897	NM_145331.3(MAP3K7):c.1175T>C (p.Met392Thr)	MAP3K7 (M392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1003590	NM_145331.3(MAP3K7):c.1175T>G (p.Met392Arg)	MAP3K7 (M392R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2460302	NM_145331.3(MAP3K7):c.1174A>G (p.Met392Val)	MAP3K7 (M392V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1940658	NM_145331.3(MAP3K7):c.1165A>G (p.Ser389Gly)	MAP3K7 (S389G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433634	NM_145331.3(MAP3K7):c.1163T>C (p.Met388Thr)	MAP3K7 (M388T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975180	NM_145331.3(MAP3K7):c.1161G>A (p.Arg387=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743266	NM_145331.3(MAP3K7):c.1159A>C (p.Arg387=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088396	NM_145331.3(MAP3K7):c.1155C>T (p.Gly385=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1975717	NM_145331.3(MAP3K7):c.1148C>T (p.Ser383Phe)	MAP3K7 (S383F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317444	NM_145331.3(MAP3K7):c.1144A>G (p.Thr382Ala)	MAP3K7 (T382A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051062	NM_145331.3(MAP3K7):c.1139C>G (p.Pro380Arg)	MAP3K7 (P380R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944203	NM_145331.3(MAP3K7):c.1137G>C (p.Leu379Phe)	MAP3K7 (L379F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148075	NM_145331.3(MAP3K7):c.1137G>A (p.Leu379=)	MAP3K7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676036	NM_145331.3(MAP3K7):c.1115G>A (p.Arg372His)	MAP3K7 (R372H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522364	NM_145331.3(MAP3K7):c.1114C>T (p.Arg372Cys)	MAP3K7 (R372C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216501	NM_145331.3(MAP3K7):c.1108G>A (p.Ala370Thr)	MAP3K7 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067319	NM_145331.3(MAP3K7):c.1100G>A (p.Ser367Asn)	MAP3K7 (S367N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660844	NM_145331.3(MAP3K7):c.1080+20G>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2195457	NM_145331.3(MAP3K7):c.1080+9T>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899730	NM_145331.3(MAP3K7):c.1070C>G (p.Ala357Gly)	MAP3K7 (A357G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962223	NM_145331.3(MAP3K7):c.1069G>A (p.Ala357Thr)	MAP3K7 (A357T)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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