ClinVar for MedGen (Select 1682403) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3338641	NM_001348716.2(KDM6B):c.3673+4A>G	KDM6B	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
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 3255191	NM_001348716.2(KDM6B):c.1084G>C (p.Glu362Gln)	KDM6B (E362Q)	Single nucleotide variant (missense 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 3254676	NM_001348716.2(KDM6B):c.1315_1324del (p.Gly439fs)	KDM6B (G439fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
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 3235162	NM_001348716.2(KDM6B):c.1542_1554dup (p.Leu519fs)	KDM6B (L519fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	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 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 2686035	NM_001348716.2(KDM6B):c.4737+5G>A	KDM6B	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
Select item 2671707	NM_001348716.2(KDM6B):c.817C>T (p.Pro273Ser)	KDM6B (P273S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
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 2500328	NM_001348716.2(KDM6B):c.2865dup (p.Ala956fs)	KDM6B (A956fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
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 2433085	NM_001348716.2(KDM6B):c.575G>A (p.Arg192Gln)	KDM6B (R192Q)	Single nucleotide variant (missense variant)	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 2431714	NM_001348716.2(KDM6B):c.2695C>T (p.Pro899Ser)	KDM6B (P899S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2430317	NM_001348716.2(KDM6B):c.2995C>T (p.Arg999Cys)	KDM6B (R999C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GUncertain significance
Select item 2430142	NM_001348716.2(KDM6B):c.1603G>A (p.Val535Met)	KDM6B (V535M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 2278616	NM_001348716.2(KDM6B):c.2477C>G (p.Ser826Cys)	KDM6B (S826C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2251446	NM_001348716.2(KDM6B):c.1244C>T (p.Pro415Leu)	KDM6B (P415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1805957	NM_001348716.2(KDM6B):c.1432C>G (p.Arg478Gly)	KDM6B (R478G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805763	NM_001348716.2(KDM6B):c.305G>A (p.Arg102Gln)	KDM6B (R102Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1710419	NM_001348716.2(KDM6B):c.1072del (p.Ser358fs)	KDM6B (S358fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
Select item 1709281	NM_001348716.2(KDM6B):c.595C>T (p.Arg199Ter)	KDM6B (R199*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1709030	NM_001348716.2(KDM6B):c.31del (p.Arg11fs)	KDM6B (R11fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704476	NM_001348716.2(KDM6B):c.3288_3291del (p.Ser1096fs)	KDM6B (S1096fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
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 1704474	NM_001348716.2(KDM6B):c.283G>A (p.Gly95Ser)	KDM6B (G95S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704473	NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1])	KDM6B	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704472	NM_001348716.2(KDM6B):c.4750A>C (p.Asn1584His)	KDM6B (N1584H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704471	NM_001348716.2(KDM6B):c.4708G>C (p.Glu1570Gln)	KDM6B (E1570Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704470	NM_001348716.2(KDM6B):c.4895A>G (p.Asp1632Gly)	KDM6B (D1632G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
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 1704467	NM_001348716.2(KDM6B):c.1264G>A (p.Ala422Thr)	KDM6B (A422T)	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 1704465	NM_001348716.2(KDM6B):c.3444T>G (p.Asn1148Lys)	KDM6B (N1148K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 1704464	NM_001348716.2(KDM6B):c.3281C>A (p.Ser1094Ter)	KDM6B (S1094*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704463	NM_001348716.2(KDM6B):c.4500C>A (p.Tyr1500Ter)	KDM6B, LOC121587574 (Y1500*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1704462	NM_001348716.2(KDM6B):c.2865del (p.Ala956fs)	KDM6B (A956fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
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 1704460	NM_001348716.2(KDM6B):c.2448C>G (p.Tyr816Ter)	KDM6B (Y816*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704459	NM_001348716.2(KDM6B):c.1053_1056del (p.Ala352fs)	KDM6B (A352fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704458	NM_001348716.2(KDM6B):c.1769del (p.Pro590fs)	KDM6B (P590fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704457	NM_001348716.2(KDM6B):c.2970dup (p.Lys991Ter)	KDM6B (K991*)	Duplication (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 1704455	NM_001348716.2(KDM6B):c.2598del (p.Ser867fs)	KDM6B (S867fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704454	NM_001348716.2(KDM6B):c.2012_2013del (p.Leu670_Phe671insTer)	KDM6B	Deletion (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704453	NM_001348716.2(KDM6B):c.343C>T (p.Gln115Ter)	KDM6B (Q115*)	Single nucleotide variant (nonsense)	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 1704451	NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter)	KDM6B (E1570*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704450	NM_001348716.2(KDM6B):c.2125G>T (p.Glu709Ter)	KDM6B (E709*)	Single nucleotide variant (nonsense)	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 1704447	NM_001348716.2(KDM6B):c.138-2A>G	KDM6B	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704446	NM_001348716.2(KDM6B):c.578del (p.Gly193fs)	KDM6B (G193fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704445	NM_001348716.2(KDM6B):c.1439dup (p.Pro481fs)	KDM6B (P481fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704444	NM_001348716.2(KDM6B):c.2134C>T (p.Gln712Ter)	KDM6B (Q712*)	Single nucleotide variant (nonsense)	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 1704441	NM_001348716.2(KDM6B):c.4795del (p.Leu1599fs)	KDM6B (L1599fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704440	NM_001348716.2(KDM6B):c.685C>T (p.Arg229Ter)	KDM6B (R229*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704439	NM_001348716.2(KDM6B):c.4724G>C (p.Cys1575Ser)	KDM6B (C1575S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704438	NM_001348716.2(KDM6B):c.3564_3567delCTAT (p.Tyr1189fs)	KDM6B (Y1189fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704437	NM_001348716.2(KDM6B):c.3535dup (p.Glu1179fs)	KDM6B (E1179fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704436	NM_001348716.2(KDM6B):c.4696C>A (p.Arg1566Ser)	KDM6B (R1566S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704435	NM_001348716.2(KDM6B):c.1229_1233dup (p.Gly412fs)	KDM6B (G412fs)	Duplication (frameshift 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 1704433	NM_001348716.2(KDM6B):c.2690_2703del (p.Gln897fs)	KDM6B (Q897fs)	Deletion (frameshift 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 1704431	NM_001348716.2(KDM6B):c.2985_2988delinsGGGACAGTGCC (p.Arg996fs)	KDM6B (R996fs)	Indel (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704430	NM_001348716.2(KDM6B):c.419dup (p.Ala141fs)	KDM6B (A141fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1704429	NM_001348716.2(KDM6B):c.1260_1270del (p.Gly421fs)	KDM6B (G421fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
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 1704427	NM_001348716.2(KDM6B):c.3038del (p.Lys1013fs)	KDM6B (K1013fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic

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