29012[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060195, LOC130060196 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	KCNAB3, LOC130060206 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 3113901	NM_001348716.2(KDM6B):c.5A>G (p.His2Arg)	KDM6B (H2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2134332	NM_001348716.2(KDM6B):c.37G>T (p.Ala13Ser)	KDM6B (A13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049542	NM_001348716.2(KDM6B):c.41G>A (p.Arg14Gln)	KDM6B (R14Q)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GLikely benign
Select item 2631780	NM_001348716.2(KDM6B):c.55C>T (p.Leu19Phe)	KDM6B (L19F)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 3025109	NM_001348716.2(KDM6B):c.62G>A (p.Gly21Asp)	KDM6B (G21D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302460	NM_001348716.2(KDM6B):c.95C>T (p.Pro32Leu)	KDM6B (P32L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628898	NM_001348716.2(KDM6B):c.110C>T (p.Pro37Leu)	KDM6B (P37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2513566	NM_001348716.2(KDM6B):c.116G>C (p.Ser39Thr)	KDM6B (S39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 744294	NM_001348716.2(KDM6B):c.138-8C>G	KDM6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 986275	NM_001348716.2(KDM6B):c.138-1G>A	KDM6B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3052582	NM_001348716.2(KDM6B):c.138A>G (p.Arg46=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 2215567	NM_001348716.2(KDM6B):c.160C>T (p.Pro54Ser)	KDM6B (P54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113886	NM_001348716.2(KDM6B):c.164C>G (p.Pro55Arg)	KDM6B (P55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781252	NM_001348716.2(KDM6B):c.165G>A (p.Pro55=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2505863	NM_001348716.2(KDM6B):c.182C>T (p.Pro61Leu)	KDM6B (P61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741399	NM_001348716.2(KDM6B):c.183C>T (p.Pro61=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113888	NM_001348716.2(KDM6B):c.184C>T (p.Pro62Ser)	KDM6B (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2501463	NM_001348716.2(KDM6B):c.184C>A (p.Pro62Thr)	KDM6B (P62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2283177	NM_001348716.2(KDM6B):c.184C>G (p.Pro62Ala)	KDM6B (P62A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287979	NM_001348716.2(KDM6B):c.197G>A (p.Ser66Asn)	KDM6B (S66N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251014	NM_001348716.2(KDM6B):c.220C>T (p.Pro74Ser)	KDM6B (P74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623264	NM_001348716.2(KDM6B):c.225T>A (p.Tyr75Ter)	KDM6B (Y75*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1320229	NM_001348716.2(KDM6B):c.236+1G>A	KDM6B	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 1302914	NM_001348716.2(KDM6B):c.236+3G>C	KDM6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2368275	NM_001348716.2(KDM6B):c.248C>T (p.Pro83Leu)	KDM6B (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2570974	NM_001348716.2(KDM6B):c.255C>G (p.Pro85=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 749446	NM_001348716.2(KDM6B):c.261T>C (p.His87=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235777	NM_001348716.2(KDM6B):c.263G>A (p.Gly88Glu)	KDM6B (G88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1706144	NM_001348716.2(KDM6B):c.292C>G (p.Gln98Glu)	KDM6B (Q98E)	Single nucleotide variant (missense variant)	not provided	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 2296776	NM_001348716.2(KDM6B):c.314C>G (p.Ala105Gly)	KDM6B (A105G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3026494	NM_001348716.2(KDM6B):c.382C>G (p.Arg128Gly)	KDM6B (R128G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984608	NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter)	KDM6B (R135*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3287974	NM_001348716.2(KDM6B):c.413G>C (p.Gly138Ala)	KDM6B (G138A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3287986	NM_001348716.2(KDM6B):c.421G>A (p.Ala141Thr)	KDM6B (A141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312175	NM_001348716.2(KDM6B):c.431G>C (p.Gly144Ala)	KDM6B (G144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385870	NM_001348716.2(KDM6B):c.437G>A (p.Arg146His)	KDM6B (R146H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2633015	NM_001348716.2(KDM6B):c.440T>C (p.Ile147Thr)	KDM6B (I147T)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 623266	NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter)	KDM6B (R149*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2556812	NM_001348716.2(KDM6B):c.446G>C (p.Arg149Pro)	KDM6B (R149P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691495	NM_001348716.2(KDM6B):c.457-13C>T	KDM6B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2272102	NM_001348716.2(KDM6B):c.457-6C>T	KDM6B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2572682	NM_001348716.2(KDM6B):c.463C>T (p.Leu155Phe)	KDM6B (L155F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699056	NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter)	KDM6B (R166*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GPathogenic
Select item 748841	NM_001348716.2(KDM6B):c.522G>A (p.Glu174=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704418	NM_001348716.2(KDM6B):c.523C>T (p.Gln175Ter)	KDM6B (Q175*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 3113899	NM_001348716.2(KDM6B):c.542A>C (p.His181Pro)	KDM6B (H181P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298962	NM_001348716.2(KDM6B):c.549+6G>C	KDM6B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2635920	NM_001348716.2(KDM6B):c.563A>G (p.Tyr188Cys)	KDM6B (Y188C)	Single nucleotide variant (missense variant)	KDM6B-related disorder	GUncertain significance
Select item 2647390	NM_001348716.2(KDM6B):c.572A>G (p.Lys191Arg)	KDM6B (K191R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 +1 more	GUncertain significance
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 1307913	NM_001348716.2(KDM6B):c.584C>T (p.Pro195Leu)	KDM6B (P195L)	Single nucleotide variant (missense variant)	not provided	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 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 754856	NM_001348716.2(KDM6B):c.588G>A (p.Pro196=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709281	NM_001348716.2(KDM6B):c.595C>T (p.Arg199Ter)	KDM6B (R199*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 225024	NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu)	KDM6B (V209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3287984	NM_001348716.2(KDM6B):c.640C>T (p.Leu214Phe)	KDM6B (L214F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704426	NM_001348716.2(KDM6B):c.654_655del (p.Glu220fs)	KDM6B (E220fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 2386814	NM_001348716.2(KDM6B):c.660G>C (p.Glu220Asp)	KDM6B (E220D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2629660	NM_001348716.2(KDM6B):c.692G>C (p.Arg231Thr)	KDM6B (R231T)	Single nucleotide variant (missense variant)	KDM6B-related disorder	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 2572887	NM_001348716.2(KDM6B):c.728G>A (p.Gly243Glu)	KDM6B (G243E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287975	NM_001348716.2(KDM6B):c.740C>T (p.Pro247Leu)	KDM6B (P247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3037897	NM_001348716.2(KDM6B):c.753ACC[17] (p.Pro264_Leu265insProProProPro)	KDM6B	Microsatellite (inframe insertion)	KDM6B-related disorder	GLikely benign
Select item 1206219	NM_001348716.2(KDM6B):c.753ACC[14] (p.Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	KDM6B-related disorder	GBenign
Select item 1206109	NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 254122	NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GBenign/Likely benign
Select item 2633853	NM_001348716.2(KDM6B):c.753ACC[7] (p.Pro259_Pro264del)	KDM6B	Microsatellite (inframe_deletion)	KDM6B-related disorder	GUncertain significance
Select item 1300010	NM_001348716.2(KDM6B):c.753ACC[12] (p.Pro264del)	KDM6B (P264del)	Microsatellite (inframe_deletion)	KDM6B-related disorder	GBenign
Select item 1174808	NM_001348716.2(KDM6B):c.753ACC[10] (p.Pro262_Pro264del)	KDM6B	Microsatellite (inframe_deletion)	not provided +1 more	GBenign
Select item 1049131	NM_001348716.2(KDM6B):c.753ACC[8] (p.Pro260_Pro264del)	KDM6B	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 218502	NM_001348716.2(KDM6B):c.753ACC[11] (p.Pro263_Pro264del)	KDM6B	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +2 more	GBenign
Select item 3038016	NM_001348716.2(KDM6B):c.756A>C (p.Pro252=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3026460	NM_001348716.2(KDM6B):c.765_766insTTACCA (p.Pro255_Pro256insLeuPro)	KDM6B	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 2257150	NM_001348716.2(KDM6B):c.775C>T (p.Pro259Ser)	KDM6B (P259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056144	NM_001348716.2(KDM6B):c.777A>C (p.Pro259=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder +1 more	GLikely benign
Select item 3055676	NM_001348716.2(KDM6B):c.780A>C (p.Pro260=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3055274	NM_001348716.2(KDM6B):c.783A>C (p.Pro261=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 3067306	NM_001348716.2(KDM6B):c.786A>C (p.Pro262=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174645	NM_001348716.2(KDM6B):c.788_793dup (p.Pro263_Pro264dup)	KDM6B	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 3055924	NM_001348716.2(KDM6B):c.789A>C (p.Pro263=)	KDM6B	Single nucleotide variant (synonymous variant)	KDM6B-related disorder	GLikely benign
Select item 1675658	NM_001348716.2(KDM6B):c.789A>G (p.Pro263=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1288630	NM_001348716.2(KDM6B):c.807T>C (p.Ala269=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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