Related gene-specific medical variations for Gene (Select 23135) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 129

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363366	NM_001348716.2(KDM6B):c.4120A>T (p.Asn1374Tyr)	KDM6B, LOC121587574 (N1374Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362279	NM_001348716.2(KDM6B):c.1556T>A (p.Leu519His)	KDM6B (L519H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3362075	NM_001348716.2(KDM6B):c.4908+26_4908+28del	KDM6B (Q1645del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3361706	NM_001348716.2(KDM6B):c.4908+53dup	KDM6B (G1655fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3361617	NM_001348716.2(KDM6B):c.1707G>A (p.Val569=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3361559	NM_001348716.2(KDM6B):c.3336T>A (p.Ser1112Arg)	KDM6B (S1112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361149	NM_001348716.2(KDM6B):c.1142_1147dup (p.Cys382_Val383insAlaCys)	KDM6B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3359833	NM_001348716.2(KDM6B):c.4487C>A (p.Ala1496Asp)	KDM6B (A1496D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347676	NM_001348716.2(KDM6B):c.4574T>A (p.Val1525Asp)	KDM6B, LOC121587574 (V1525D)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 3337264	NM_001348716.2(KDM6B):c.4090_4091del (p.Ser1364fs)	KDM6B, LOC121587574 (S1364fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337214	NM_001348716.2(KDM6B):c.4165G>T (p.Gly1389Cys)	KDM6B, LOC121587574 (G1389C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3287978	NM_001348716.2(KDM6B):c.4259C>G (p.Thr1420Ser)	KDM6B, LOC121587574 (T1420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287976	NM_001348716.2(KDM6B):c.3970C>A (p.His1324Asn)	KDM6B, LOC121587574 (H1324N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256704	NM_001348716.2(KDM6B):c.3995T>A (p.Ile1332Asn)	KDM6B, LOC121587574 (I1332N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3256576	NM_001348716.2(KDM6B):c.3879+1dup	KDM6B, LOC121587574	Duplication (splice donor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3254678	NM_001348716.2(KDM6B):c.4172A>G (p.Gln1391Arg)	KDM6B, LOC121587574 (Q1391R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 3235848	NM_001348716.2(KDM6B):c.4472A>G (p.Tyr1491Cys)	KDM6B, LOC121587574 (Y1491C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 3113897	NM_001348716.2(KDM6B):c.4268C>T (p.Ala1423Val)	LOC121587574, KDM6B (A1423V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113896	NM_001348716.2(KDM6B):c.3737G>A (p.Arg1246His)	KDM6B, LOC121587574 (R1246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3061919	NM_001348716.2(KDM6B):c.4556G>A (p.Trp1519Ter)	KDM6B, LOC121587574 (W1519*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 3046974	NM_001348716.2(KDM6B):c.4245G>A (p.Glu1415=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3046960	NM_001348716.2(KDM6B):c.3726C>T (p.Thr1242=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3032157	NM_001348716.2(KDM6B):c.3921C>G (p.Asp1307Glu)	KDM6B, LOC121587574 (D1307E)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GLikely benign
Select item 3030408	NM_001348716.2(KDM6B):c.3913G>A (p.Glu1305Lys)	KDM6B, LOC121587574 (E1305K)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 2920719	NM_001348716.2(KDM6B):c.4469-9G>A	KDM6B, LOC121587574	Single nucleotide variant (intron variant)	Developmental disorder	GUncertain significance
Select item 2808914	NM_001348716.2(KDM6B):c.4039C>G (p.Leu1347Val)	KDM6B, LOC121587574 (L1347V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690481	NM_001348716.2(KDM6B):c.2809G>A (p.Asp937Asn)	KDM6B (D937N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely benign
Select item 2647415	NM_001348716.2(KDM6B):c.4572G>A (p.Thr1524=)	LOC121587574, KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647414	NM_001348716.2(KDM6B):c.4215A>G (p.Pro1405=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647413	NM_001348716.2(KDM6B):c.4182C>T (p.Asn1394=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647412	NM_001348716.2(KDM6B):c.3962A>G (p.Lys1321Arg)	KDM6B, LOC121587574 (K1321R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637044	NM_001348716.2(KDM6B):c.4190G>A (p.Cys1397Tyr)	KDM6B, LOC121587574 (C1397Y)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GLikely pathogenic
Select item 2619048	NM_001348716.2(KDM6B):c.4536G>T (p.Val1512=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2582562	NM_001348716.2(KDM6B):c.4343A>G (p.Asn1448Ser)	KDM6B, LOC121587574 (N1448S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2581751	NM_001348716.2(KDM6B):c.4609A>G (p.Lys1537Glu)	KDM6B, LOC121587574 (K1537E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580503	NM_001348716.2(KDM6B):c.4560C>G (p.Asn1520Lys)	KDM6B, LOC121587574 (N1520K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576133	NM_001348716.2(KDM6B):c.4738-6C>T	KDM6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2444566	NM_001348716.2(KDM6B):c.4188C>A (p.Phe1396Leu)	KDM6B, LOC121587574 (F1396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442025	NM_001348716.2(KDM6B):c.4412G>A (p.Trp1471Ter)	KDM6B, LOC121587574 (W1471*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 2433095	NM_001348716.2(KDM6B):c.587C>T (p.Pro196Leu)	KDM6B (P196L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433094	NM_001348716.2(KDM6B):c.4663dup (p.Val1555fs)	KDM6B (V1555fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433093	NM_001348716.2(KDM6B):c.2166A>C (p.Gln722His)	KDM6B (Q722H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433092	NM_001348716.2(KDM6B):c.2869C>T (p.Gln957Ter)	KDM6B (Q957*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 2433091	NM_001348716.2(KDM6B):c.2628G>T (p.Gly876=)	KDM6B	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433090	NM_001348716.2(KDM6B):c.2020C>T (p.Pro674Ser)	KDM6B (P674S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433089	NM_001348716.2(KDM6B):c.1019G>A (p.Arg340His)	KDM6B (R340H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely benign
Select item 2433088	NM_001348716.2(KDM6B):c.1270C>T (p.His424Tyr)	KDM6B (H424Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433087	NM_001348716.2(KDM6B):c.3949G>A (p.Ala1317Thr)	KDM6B, LOC121587574 (A1317T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433086	NM_001348716.2(KDM6B):c.4925C>A (p.Ser1642Ter)	KDM6B (S1642* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433084	NM_001348716.2(KDM6B):c.1718C>T (p.Pro573Leu)	KDM6B (P573L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433083	NM_001348716.2(KDM6B):c.881G>A (p.Arg294His)	KDM6B (R294H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433082	NM_001348716.2(KDM6B):c.866C>T (p.Ala289Val)	KDM6B (A289V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433081	NM_001348716.2(KDM6B):c.2789G>C (p.Arg930Pro)	KDM6B (R930P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433080	NM_001348716.2(KDM6B):c.1552C>T (p.Pro518Ser)	KDM6B (P518S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433079	NM_001348716.2(KDM6B):c.586C>G (p.Pro196Ala)	KDM6B (P196A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433078	NM_001348716.2(KDM6B):c.3014CCAAGG[3] (p.Lys1008_Val1009insAlaLys)	KDM6B	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433077	NM_001348716.2(KDM6B):c.2173C>G (p.Leu725Val)	KDM6B (L725V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433076	NM_001348716.2(KDM6B):c.3157_3174dup (p.Pro1058_Ser1059insProSerAlaProAlaPro)	KDM6B	Duplication (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433075	NM_001348716.2(KDM6B):c.259C>T (p.His87Tyr)	KDM6B (H87Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433074	NM_001348716.2(KDM6B):c.1282C>T (p.Pro428Ser)	KDM6B (P428S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433072	NM_001348716.2(KDM6B):c.1069G>A (p.Gly357Arg)	KDM6B (G357R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2400166	NM_001348716.2(KDM6B):c.3710C>T (p.Ala1237Val)	KDM6B, LOC121587574 (A1237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242500	NM_001348716.2(KDM6B):c.4075A>G (p.Thr1359Ala)	KDM6B, LOC121587574 (T1359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232626	NM_001348716.2(KDM6B):c.3940C>T (p.Pro1314Ser)	KDM6B, LOC121587574 (P1314S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2230372	NM_001348716.2(KDM6B):c.4388G>A (p.Trp1463Ter)	KDM6B, LOC121587574 (W1463*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2210989	NM_001348716.2(KDM6B):c.3937C>T (p.Pro1313Ser)	KDM6B, LOC121587574 (P1313S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2040759	NM_001348716.2(KDM6B):c.4298del (p.Tyr1432_Leu1433insTer)	KDM6B, LOC121587574	Deletion (nonsense)	not provided	GPathogenic
Select item 1803341	NM_001348716.2(KDM6B):c.4206C>G (p.Asn1402Lys)	KDM6B, LOC121587574 (N1402K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801149	NM_001348716.2(KDM6B):c.4190_4192del (p.Cys1397del)	KDM6B, LOC121587574 (C1397del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1801129	NM_001348716.2(KDM6B):c.3956A>G (p.Asp1319Gly)	KDM6B, LOC121587574 (D1319G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800918	NM_001348716.2(KDM6B):c.3937CCT[1] (p.Pro1314del)	KDM6B, LOC121587574 (P1314del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1800868	NM_001348716.2(KDM6B):c.4300A>C (p.Thr1434Pro)	KDM6B, LOC121587574 (T1434P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1738440	NM_001348716.2(KDM6B):c.4174G>C (p.Glu1392Gln)	KDM6B, LOC121587574 (E1392Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704475	NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del)	KDM6B, LOC121587574 (D1254del)	Deletion (inframe_deletion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic/Likely pathogenic
Select item 1704469	NM_001348716.2(KDM6B):c.4254G>T (p.Trp1418Cys)	KDM6B, LOC121587574 (W1418C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704468	NM_001348716.2(KDM6B):c.4540A>G (p.Met1514Val)	KDM6B, LOC121587574 (M1514V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704466	NM_001348716.2(KDM6B):c.4568G>C (p.Arg1523Pro)	KDM6B, LOC121587574 (R1523P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704463	NM_001348716.2(KDM6B):c.4500C>A (p.Tyr1500Ter)	KDM6B, LOC121587574 (Y1500*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1704461	NM_001348716.2(KDM6B):c.4020_4021delinsAT (p.Trp1340_Lys1341delinsTer)	KDM6B, LOC121587574	Indel (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704456	NM_001348716.2(KDM6B):c.4165+2T>A	KDM6B, LOC121587574	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704452	NM_001348716.2(KDM6B):c.4222T>C (p.Cys1408Arg)	KDM6B, LOC121587574 (C1408R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704449	NM_001348716.2(KDM6B):c.4468+5G>C	KDM6B, LOC121587574	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704448	NM_001348716.2(KDM6B):c.4187_4189del (p.Phe1396del)	KDM6B, LOC121587574 (F1396del)	Deletion (inframe_deletion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704443	NM_001348716.2(KDM6B):c.4186T>A (p.Phe1396Ile)	KDM6B, LOC121587574 (F1396I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704442	NM_001348716.2(KDM6B):c.4174G>A (p.Glu1392Lys)	KDM6B, LOC121587574 (E1392K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704434	NM_001348716.2(KDM6B):c.4193C>A (p.Ser1398Tyr)	KDM6B, LOC121587574 (S1398Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704432	NM_001348716.2(KDM6B):c.4118T>C (p.Met1373Thr)	KDM6B, LOC121587574 (M1373T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1704428	NM_001348716.2(KDM6B):c.3944+1G>A	KDM6B, LOC121587574	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704424	NM_001348716.2(KDM6B):c.3674-2A>G	KDM6B, LOC121587574	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704420	NM_001348716.2(KDM6B):c.3911_3912del (p.Glu1304fs)	KDM6B, LOC121587574 (E1304fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1697084	NM_001348716.2(KDM6B):c.3976A>T (p.Ile1326Phe)	KDM6B, LOC121587574 (I1326F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690570	NM_001348716.2(KDM6B):c.4488C>A (p.Ala1496=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 1684499	NM_001348716.2(KDM6B):c.3945-2A>T	KDM6B, LOC121587574	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1679668	NM_001348716.2(KDM6B):c.4165+3G>A	KDM6B, LOC121587574	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1679648	NM_001348716.2(KDM6B):c.712A>G (p.Thr238Ala)	KDM6B (T238A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1676564	NM_001080424.2(KDM6B):c.4933_4976dup (p.Pro1661fs)	KDM6B (P1661fs)	Duplication	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1527972	NM_001348716.2(KDM6B):c.3736C>T (p.Arg1246Cys)	KDM6B, LOC121587574 (R1246C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1527958	NM_001348716.2(KDM6B):c.4495C>T (p.Arg1499Ter)	KDM6B, LOC121587574 (R1499*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1343207	NM_001348716.2(KDM6B):c.4348C>T (p.Pro1450Ser)	KDM6B, LOC121587574 (P1450S)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 1342350	NM_001348716.2(KDM6B):c.2703_2705del (p.Leu902del)	KDM6B (L902del)	Deletion (inframe_deletion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance

<< First< Prev

Page of 2