"GeneDx"[submitter] AND "KDM6A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 145136	GRCh38/hg38 Xp11.3(chrX:44387905-45242671)x2	DIPK2B, DUSP21 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1272799	NC_000023.11:g.44872897A>C	KDM6A	Single nucleotide variant	not provided	GBenign
Select item 1189615	NC_000023.11:g.44873149dup	KDM6A, LOC130068182	Duplication	not provided	GLikely benign
Select item 1221796	NM_001291415.2(KDM6A):c.-182GCC[7]	KDM6A	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1198356	NM_001291415.2(KDM6A):c.-182GCC[8]	KDM6A	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1290124	NM_001291415.2(KDM6A):c.-50C>G	KDM6A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2446216	NM_001291415.2(KDM6A):c.9C>T (p.Ser3=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1214187	NM_001291415.2(KDM6A):c.20C>G (p.Ser7Trp)	KDM6A (S7W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1383579	NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup)	KDM6A	Duplication (inframe_insertion +2 more)	not provided +3 more	GUncertain significance
Select item 1164597	NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup)	KDM6A	Duplication (inframe_insertion +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1212225	NM_001291415.2(KDM6A):c.42CGC[5] (p.Ala16_Ala17dup)	KDM6A	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GLikely benign
Select item 193446	NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)	KDM6A	Microsatellite (inframe_insertion +2 more)	Kabuki syndrome 2 +2 more	GBenign/Likely benign
Select item 1312705	NM_001291415.2(KDM6A):c.63_65del (p.Glu22del)	KDM6A (E22del)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2577798	NM_001291415.2(KDM6A):c.63G>C (p.Glu21Asp)	KDM6A (E21D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 524077	NM_001291415.2(KDM6A):c.75_90dup (p.Ser31fs)	KDM6A (S31fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 134594	NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr)	KDM6A (A30T)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 3113873	NM_001291415.2(KDM6A):c.101G>C (p.Ser34Thr)	KDM6A (S34T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2446077	NM_001291415.2(KDM6A):c.130G>C (p.Glu44Gln)	KDM6A (E44Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1803692	NM_001291415.2(KDM6A):c.133G>C (p.Glu45Gln)	KDM6A (E45Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1707786	NM_001291415.2(KDM6A):c.142G>T (p.Ala48Ser)	KDM6A (A48S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1329722	NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)	KDM6A, LOC130068183 (G50D)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2582031	NM_001291415.2(KDM6A):c.160A>G (p.Ser54Gly)	KDM6A, LOC130068183 (S54G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1289006	NM_001291415.2(KDM6A):c.162-34A>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341614	NM_001291415.2(KDM6A):c.162-12_162-11del	KDM6A, LOC130068183	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3364929	NM_001291415.2(KDM6A):c.164G>T (p.Arg55Leu)	KDM6A, LOC130068183 (R55L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1309770	NM_001291415.2(KDM6A):c.203G>C (p.Arg68Thr)	KDM6A (R68T)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1305146	NM_001291415.2(KDM6A):c.221G>T (p.Gly74Val)	KDM6A (G74V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1187806	NM_001291415.2(KDM6A):c.222C>G (p.Gly74=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1289682	NM_001291415.2(KDM6A):c.225+22G>A	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309092	NM_001291415.2(KDM6A):c.225+26G>C	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228264	NM_001291415.2(KDM6A):c.225+30A>C	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235540	NM_001291415.2(KDM6A):c.225+96A>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207408	NM_001291415.2(KDM6A):c.225+205T>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187984	NM_001291415.2(KDM6A):c.226-314C>A	KDM6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237697	NM_001291415.2(KDM6A):c.226-226A>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663678	NM_001291415.2(KDM6A):c.269A>G (p.Lys90Arg)	KDM6A (K90R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1699772	NM_001291415.2(KDM6A):c.298G>A (p.Gly100Ser)	KDM6A (G100S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2579844	NM_001291415.2(KDM6A):c.319G>A (p.Glu107Lys)	KDM6A (E107K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1234049	NM_001291415.2(KDM6A):c.334+30A>T	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181139	NM_001291415.2(KDM6A):c.335-85T>C	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244443	NM_001291415.2(KDM6A):c.335-70C>A	KDM6A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 987874	NM_001291415.2(KDM6A):c.343G>A (p.Ala115Thr)	KDM6A (A115T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1265411	NM_001291415.2(KDM6A):c.384+93dup	KDM6A	Duplication (intron variant)	not provided	GBenign
Select item 489348	NM_001291415.2(KDM6A):c.398T>G (p.Leu133Ter)	KDM6A (L133*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2582128	NM_001291415.2(KDM6A):c.406C>T (p.Leu136Phe)	KDM6A (L136F)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 3253141	NM_001291415.2(KDM6A):c.443+6T>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1244099	NM_001291415.2(KDM6A):c.443+273T>C	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724704	NM_001291415.2(KDM6A):c.444-7C>T	KDM6A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2574922	NM_001291415.2(KDM6A):c.493C>G (p.Arg165Gly)	KDM6A (R165G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 692010	NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)	KDM6A (R165*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 3364974	NM_001291415.2(KDM6A):c.520G>A (p.Gly174Arg)	KDM6A (G174R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1329607	NM_001291415.2(KDM6A):c.521G>A (p.Gly174Glu)	KDM6A (G174E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1291822	NM_001291415.2(KDM6A):c.564+44G>T	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191456	NM_001291415.2(KDM6A):c.619+4_619+7del	KDM6A	Microsatellite (splice donor variant)	not provided	GPathogenic
Select item 1277839	NM_001291415.2(KDM6A):c.619+30A>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207240	NM_001291415.2(KDM6A):c.620-279T>C	KDM6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267444	NM_001291415.2(KDM6A):c.620-53C>T	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282933	NM_001291415.2(KDM6A):c.620-39A>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249393	NM_001291415.2(KDM6A):c.620-37T>C	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363979	NM_001291415.2(KDM6A):c.638A>G (p.His213Arg)	KDM6A (H213R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1304694	NM_001291415.2(KDM6A):c.643T>C (p.Tyr215His)	KDM6A (Y215H)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +2 more	GUncertain significance
Select item 1722802	NM_001291415.2(KDM6A):c.648A>C (p.Glu216Asp)	KDM6A (E216D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1304038	NM_001291415.2(KDM6A):c.648A>T (p.Glu216Asp)	KDM6A (E216D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1290678	NM_001291415.2(KDM6A):c.654+108del	KDM6A	Deletion (intron variant)	not provided	GBenign
Select item 1286556	NM_001291415.2(KDM6A):c.654+251G>A	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248594	NM_001291415.2(KDM6A):c.655-23A>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220384	NM_001291415.2(KDM6A):c.655-13_655-12del	KDM6A	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2501313	NM_001291415.2(KDM6A):c.676G>C (p.Glu226Gln)	KDM6A (E226Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2429725	NM_001291415.2(KDM6A):c.705_706del (p.Asn236fs)	KDM6A (N236fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 3364483	NM_001291415.2(KDM6A):c.703G>C (p.Glu235Gln)	KDM6A (E235Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1373333	NM_001291415.2(KDM6A):c.706A>C (p.Asn236His)	KDM6A (N236H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2502543	NM_001291415.2(KDM6A):c.719A>G (p.Gln240Arg)	KDM6A (Q240R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 429692	NM_001291415.2(KDM6A):c.748+1G>A	KDM6A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1288125	NM_001291415.2(KDM6A):c.749-310G>A	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224032	NM_001291415.2(KDM6A):c.749-287T>C	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188776	NM_001291415.2(KDM6A):c.749-24A>T	KDM6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222327	NM_001291415.2(KDM6A):c.749-22T>A	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369289	NM_001291415.2(KDM6A):c.803A>G (p.Tyr268Cys)	KDM6A (Y17C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308592	NM_001291415.2(KDM6A):c.857C>G (p.Ser286Cys)	KDM6A (S286C +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 1306205	NM_001291415.2(KDM6A):c.871G>A (p.Gly291Arg)	KDM6A (G291R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1285920	NM_001291415.2(KDM6A):c.875+41C>G	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225330	NM_001291415.2(KDM6A):c.876-140T>C	KDM6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278932	NM_001291415.2(KDM6A):c.876-16dup	KDM6A	Duplication (intron variant)	not provided	GBenign
Select item 1194771	NM_001291415.2(KDM6A):c.876-16del	KDM6A	Deletion (intron variant)	not provided	GLikely benign
Select item 1684082	NM_001291415.2(KDM6A):c.913A>G (p.Ile305Val)	KDM6A (I305V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3363293	NM_001291415.2(KDM6A):c.932T>C (p.Ile311Thr)	KDM6A (I311T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343113	NM_001291415.2(KDM6A):c.946G>A (p.Ala316Thr)	KDM6A (A316T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367259	NM_001291415.2(KDM6A):c.947C>G (p.Ala316Gly)	KDM6A (A316G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304419	NM_001291415.2(KDM6A):c.1058C>T (p.Ala353Val)	KDM6A (A102V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252359	NM_001291415.2(KDM6A):c.1079C>T (p.Thr360Ile)	KDM6A (T109I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1220512	NM_001291415.2(KDM6A):c.1178G>A (p.Arg393Gln)	KDM6A (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 1212614	NM_001291415.2(KDM6A):c.1194+69G>A	KDM6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1722919	NM_001291415.2(KDM6A):c.1205G>A (p.Cys402Tyr)	KDM6A (C402Y)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 451553	NM_001291415.2(KDM6A):c.1214C>T (p.Pro405Leu)	KDM6A (P405L)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 3369655	NM_001291415.2(KDM6A):c.1285G>A (p.Ala429Thr)	KDM6A (A429T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432518	NM_001291415.2(KDM6A):c.1363G>A (p.Val455Ile)	KDM6A (V455I +1 more)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 1 +2 more	GUncertain significance
Select item 1310382	NM_001291415.2(KDM6A):c.1376_1379del (p.Ser459fs)	KDM6A (S414fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2572848	NM_001291415.2(KDM6A):c.1462A>C (p.Lys488Gln)	KDM6A (K443Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1202818	NM_001291415.2(KDM6A):c.1468A>G (p.Thr490Ala)	KDM6A (T445A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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