"GeneDx"[submitter] AND "MAP3K7"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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	GPathogenic
Select item 1276654	NM_145331.3(MAP3K7):c.1525-142T>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373762	NM_145331.3(MAP3K7):c.1508T>G (p.Leu503Arg)	MAP3K7 (L476R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287367	NM_145331.3(MAP3K7):c.1462+268G>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2444794	NM_145331.3(MAP3K7):c.1368_1382del (p.Arg456_Pro460del)	MAP3K7	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1255070	NM_145331.3(MAP3K7):c.1356+49A>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
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 3378252	NM_145331.3(MAP3K7):c.1001A>G (p.Asn334Ser)	MAP3K7 (N334S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267139	NM_145331.3(MAP3K7):c.950-308A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183798	NM_145331.3(MAP3K7):c.949+71A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174380	NM_145331.3(MAP3K7):c.868-73A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240714	NM_145331.3(MAP3K7):c.867+185del	MAP3K7	Deletion (intron variant)	not provided	GBenign
Select item 1498883	NM_145331.3(MAP3K7):c.820C>T (p.Arg274Cys)	MAP3K7 (R274C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3369873	NM_145331.3(MAP3K7):c.811C>G (p.Pro271Ala)	MAP3K7 (P271A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320301	NM_145331.3(MAP3K7):c.745C>T (p.Pro249Ser)	MAP3K7 (P249S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2499378	NM_145331.3(MAP3K7):c.743G>C (p.Arg248Pro)	MAP3K7 (R248P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974910	NM_145331.3(MAP3K7):c.737-7A>G	MAP3K7	Single nucleotide variant (intron variant)	Cardiospondylocarpofacial syndrome +1 more	GPathogenic
Select item 1270423	NM_145331.3(MAP3K7):c.736+262G>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365759	NM_145331.3(MAP3K7):c.736+1G>A	MAP3K7	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 423266	NM_145331.3(MAP3K7):c.721T>G (p.Trp241Gly)	MAP3K7 (W241G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3363533	NM_145331.3(MAP3K7):c.719T>C (p.Met240Thr)	MAP3K7 (M240T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313250	NM_145331.3(MAP3K7):c.688G>A (p.Asp230Asn)	MAP3K7 (D230N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452368	NM_145331.3(MAP3K7):c.617A>G (p.Tyr206Cys)	MAP3K7 (Y206C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1254165	NM_145331.3(MAP3K7):c.608-130_608-128del	MAP3K7	Microsatellite (intron variant)	not provided	GBenign
Select item 1266320	NM_145331.3(MAP3K7):c.608-309A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 503783	NM_145331.3(MAP3K7):c.607+2del	MAP3K7	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1704983	NM_145331.3(MAP3K7):c.559A>T (p.Thr187Ser)	MAP3K7 (T187S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372406	NM_145331.3(MAP3K7):c.521G>A (p.Cys174Tyr)	MAP3K7 (C174Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1165052	NM_145331.3(MAP3K7):c.483-15dup	MAP3K7	Duplication (intron variant)	not provided	GBenign
Select item 1166324	NM_145331.3(MAP3K7):c.483-7T>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246593	NM_145331.3(MAP3K7):c.482+285G>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372549	NM_145331.3(MAP3K7):c.467A>T (p.Asp156Val)	MAP3K7 (D156V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2499409	NM_145331.3(MAP3K7):c.439A>G (p.Met147Val)	MAP3K7 (M147V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723470	NM_145331.3(MAP3K7):c.387C>A (p.His129Gln)	MAP3K7 (H129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225205	NM_145331.3(MAP3K7):c.344-243C>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422420	NM_145331.3(MAP3K7):c.319G>A (p.Ala107Thr)	MAP3K7 (A107T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1287178	NM_145331.3(MAP3K7):c.298-161C>T	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221867	NM_145331.3(MAP3K7):c.297+243del	MAP3K7	Deletion (intron variant)	not provided	GBenign
Select item 1225971	NM_145331.3(MAP3K7):c.232-78A>G	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232578	NM_145331.3(MAP3K7):c.232-140G>A	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279621	NM_145331.3(MAP3K7):c.232-209G>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259310	NM_145331.3(MAP3K7):c.231+64del	MAP3K7	Deletion (intron variant)	not provided	GBenign
Select item 1302191	NM_145331.3(MAP3K7):c.226G>A (p.Val76Ile)	MAP3K7 (V76I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373645	NM_145331.3(MAP3K7):c.136G>A (p.Ala46Thr)	MAP3K7 (A46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504473	NM_145331.3(MAP3K7):c.128G>C (p.Gly43Ala)	MAP3K7 (G43A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229181	NM_145331.3(MAP3K7):c.121-109del	MAP3K7	Deletion (intron variant)	not provided	GBenign
Select item 1261124	NM_145331.3(MAP3K7):c.121-176T>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241619	NM_145331.3(MAP3K7):c.120+63G>C	MAP3K7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663173	NM_145331.3(MAP3K7):c.70C>T (p.Gln24Ter)	MAP3K7 (Q24*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1312404	NM_145331.3(MAP3K7):c.-5G>T	MAP3K7	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1228113	NC_000006.12:g.90587361C>T	MAP3K7	Single nucleotide variant	not provided	GBenign
Select item 1275685	NC_000006.12:g.90587410C>G	MAP3K7	Single nucleotide variant	not provided	GBenign

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Items: 61