KDM2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 3155409	NM_025126.4(RNF34):c.22A>G (p.Met8Val)	KDM2B, RNF34 (M9V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155408	NM_025126.4(RNF34):c.160G>A (p.Ala54Thr)	KDM2B, RNF34 (A54T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515801	NM_025126.4(RNF34):c.184T>G (p.Cys62Gly)	KDM2B, RNF34 (C62G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310229	NM_025126.4(RNF34):c.289C>T (p.Arg97Cys)	KDM2B, RNF34 (R98C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387622	NM_025126.4(RNF34):c.412C>T (p.Arg138Cys)	KDM2B, RNF34 (R138C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610423	NM_025126.4(RNF34):c.429G>T (p.Leu143Phe)	KDM2B, RNF34 (L143F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267604	NM_025126.4(RNF34):c.446G>A (p.Cys149Tyr)	KDM2B, RNF34 (C149Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778448	NM_025126.4(RNF34):c.530G>A (p.Arg177His)	KDM2B, RNF34 (R178H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3155411	NM_025126.4(RNF34):c.533C>T (p.Ser178Leu)	KDM2B, RNF34 (S178L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209947	NM_025126.4(RNF34):c.616T>C (p.Ser206Pro)	KDM2B, RNF34 (S14P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155412	NM_025126.4(RNF34):c.687T>G (p.Asp229Glu)	KDM2B, RNF34 (D230E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264515	NM_025126.4(RNF34):c.693T>G (p.Asp231Glu)	KDM2B, RNF34 (D231E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377433	NM_025126.4(RNF34):c.705A>T (p.Glu235Asp)	KDM2B, RNF34 (E236D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155413	NM_025126.4(RNF34):c.829G>T (p.Ala277Ser)	KDM2B, RNF34 (A277S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595100	NM_025126.4(RNF34):c.833G>A (p.Arg278Gln)	KDM2B, RNF34 (R279Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476983	NM_025126.4(RNF34):c.893G>A (p.Arg298Gln)	KDM2B, RNF34 (R298Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155414	NM_025126.4(RNF34):c.934G>A (p.Glu312Lys)	KDM2B, RNF34 (E312K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058765	NM_032590.5(KDM2B):c.*175C>T	KDM2B	Single nucleotide variant (3 prime UTR variant)	KDM2B-related condition	GLikely benign
Select item 2630233	NM_032590.5(KDM2B):c.*167G>A	KDM2B (E1265K)	Single nucleotide variant (missense variant +1 more)	KDM2B-related condition	GUncertain significance
Select item 3043603	NM_032590.5(KDM2B):c.*163G>A	KDM2B	Single nucleotide variant (synonymous variant +1 more)	KDM2B-related condition	GLikely benign
Select item 3045774	NM_032590.5(KDM2B):c.*150C>T	KDM2B (T1259I)	Single nucleotide variant (missense variant +1 more)	KDM2B-related condition	GUncertain significance
Select item 2430752	NM_032590.5(KDM2B):c.3937C>T (p.Gln1313Ter)	KDM2B (Q1244* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2885855	NM_032590.5(KDM2B):c.3863T>C (p.Phe1288Ser)	KDM2B (F1219S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033790	NM_032590.5(KDM2B):c.3813C>T (p.Thr1271=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GLikely benign
Select item 2227457	NM_032590.5(KDM2B):c.3766A>G (p.Ile1256Val)	KDM2B (I1187V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318851	NM_032590.5(KDM2B):c.3751G>A (p.Val1251Ile)	KDM2B (V1251I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038962	NM_032590.5(KDM2B):c.3750C>T (p.His1250=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GBenign
Select item 738407	NM_032590.5(KDM2B):c.3699C>A (p.Ile1233=)	KDM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113738	NM_032590.5(KDM2B):c.3646G>A (p.Val1216Met)	KDM2B (V1147M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034878	NM_032590.5(KDM2B):c.3591G>A (p.Pro1197=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GBenign
Select item 3113737	NM_032590.5(KDM2B):c.3574C>T (p.Arg1192Trp)	KDM2B (R1123W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060938	NM_032590.5(KDM2B):c.3570G>A (p.Gln1190=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GBenign
Select item 784262	NM_032590.5(KDM2B):c.3522G>T (p.Leu1174=)	KDM2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2501574	NM_032590.5(KDM2B):c.3496G>A (p.Ala1166Thr)	KDM2B (A1097T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505682	NM_032590.5(KDM2B):c.3470C>T (p.Ser1157Leu)	KDM2B (S1088L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035247	NM_032590.5(KDM2B):c.3449-4C>G	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related condition	GLikely benign
Select item 2643405	NM_032590.5(KDM2B):c.3379G>A (p.Val1127Ile)	KDM2B (V1058I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498176	NM_032590.5(KDM2B):c.3305G>C (p.Trp1102Ser)	KDM2B (W1033S +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 2505819	NM_032590.5(KDM2B):c.3302T>C (p.Leu1101Ser)	KDM2B (L1032S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576647	NM_032590.5(KDM2B):c.3260G>T (p.Arg1087Leu)	KDM2B (R1018L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720488	NM_032590.5(KDM2B):c.3174C>T (p.Asp1058=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition +1 more	GBenign
Select item 3035893	NM_032590.5(KDM2B):c.3162G>T (p.Ser1054=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GLikely benign
Select item 2258795	NM_032590.5(KDM2B):c.3140C>T (p.Pro1047Leu)	KDM2B (P1047L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113736	NM_032590.5(KDM2B):c.3073C>T (p.Arg1025Trp)	KDM2B (R956W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242896	NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)	KDM2B (R1017H +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely benign
Select item 2267684	NM_032590.5(KDM2B):c.3040C>T (p.Pro1014Ser)	KDM2B (P1014S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511658	NM_032590.5(KDM2B):c.2996A>G (p.Lys999Arg)	KDM2B (K999R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255853	NM_032590.5(KDM2B):c.2972G>A (p.Cys991Tyr)	KDM2B (C922Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486204	NM_032590.5(KDM2B):c.2957G>A (p.Arg986Gln)	KDM2B (R917Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332219	NM_032590.5(KDM2B):c.2929C>G (p.Pro977Ala)	KDM2B (P908A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055787	NM_032590.5(KDM2B):c.2901C>T (p.Asn967=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GLikely benign
Select item 3113735	NM_032590.5(KDM2B):c.2876A>G (p.Gln959Arg)	KDM2B (Q890R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276433	NM_032590.5(KDM2B):c.2866C>A (p.His956Asn)	KDM2B (H956N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572906	NM_032590.5(KDM2B):c.2856G>T (p.Lys952Asn)	KDM2B (K883N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205229	NM_032590.5(KDM2B):c.2816G>A (p.Arg939Gln)	KDM2B (R939Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113734	NM_032590.5(KDM2B):c.2806C>T (p.Arg936Cys)	KDM2B (R867C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675517	NM_032590.5(KDM2B):c.2772C>T (p.Ala924=)	KDM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113732	NM_032590.5(KDM2B):c.2767G>C (p.Gly923Arg)	KDM2B (G923R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430940	NM_032590.5(KDM2B):c.2764G>A (p.Glu922Lys)	KDM2B (E853K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059651	NM_032590.5(KDM2B):c.2724C>T (p.Asp908=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GBenign
Select item 2630844	NM_032590.5(KDM2B):c.2686G>T (p.Glu896Ter)	KDM2B (E827* +1 more)	Single nucleotide variant (nonsense)	KDM2B-related condition	GUncertain significance
Select item 2643406	NM_032590.5(KDM2B):c.2680G>A (p.Glu894Lys)	KDM2B (E825K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3113730	NM_032590.5(KDM2B):c.2662C>T (p.Arg888Cys)	KDM2B (R819C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530911	NM_032590.5(KDM2B):c.2659C>T (p.Arg887Trp)	KDM2B (R818W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499698	NM_032590.5(KDM2B):c.2604+1G>A	KDM2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3113728	NM_032590.5(KDM2B):c.2576G>T (p.Gly859Val)	KDM2B (G859V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113727	NM_032590.5(KDM2B):c.2566C>T (p.Leu856Phe)	KDM2B (L787F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113726	NM_032590.5(KDM2B):c.2562G>T (p.Gln854His)	KDM2B (Q854H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113725	NM_032590.5(KDM2B):c.2548A>G (p.Thr850Ala)	KDM2B (T850A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035115	NM_032590.5(KDM2B):c.2452-7C>G	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related condition	GBenign
Select item 3059884	NM_032590.5(KDM2B):c.2418C>T (p.Tyr806=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GBenign
Select item 2309899	NM_032590.5(KDM2B):c.2392G>A (p.Val798Met)	KDM2B (V767M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634725	NM_032590.5(KDM2B):c.2365G>A (p.Gly789Ser)	KDM2B (G758S +1 more)	Single nucleotide variant (missense variant)	KDM2B-related condition	GUncertain significance
Select item 2457916	NM_032590.5(KDM2B):c.2360C>T (p.Pro787Leu)	KDM2B (P756L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206921	NM_032590.5(KDM2B):c.2345C>T (p.Ser782Leu)	KDM2B (S751L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629803	NM_032590.5(KDM2B):c.2342A>G (p.His781Arg)	KDM2B (H750R +1 more)	Single nucleotide variant (missense variant)	KDM2B-related condition	GUncertain significance
Select item 3042707	NM_032590.5(KDM2B):c.2334G>C (p.Ser778=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GLikely benign
Select item 2312945	NM_032590.5(KDM2B):c.2326C>T (p.Arg776Cys)	KDM2B (R745C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298921	NM_032590.5(KDM2B):c.2308T>C (p.Cys770Arg)	KDM2B (C739R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042990	NM_032590.5(KDM2B):c.2190+10G>A	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related condition	GLikely benign
Select item 3034319	NM_032590.5(KDM2B):c.2175C>T (p.Ala725=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GLikely benign
Select item 1803574	NM_032590.5(KDM2B):c.2173G>A (p.Ala725Thr)	KDM2B (A694T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507113	NM_032590.5(KDM2B):c.2134G>C (p.Glu712Gln)	KDM2B (E681Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3039464	NM_032590.5(KDM2B):c.2130C>T (p.Asn710=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related condition	GBenign
Select item 2504325	NM_032590.5(KDM2B):c.2114C>T (p.Ser705Leu)	KDM2B (S674L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556946	NM_032590.5(KDM2B):c.2051T>C (p.Met684Thr)	KDM2B (M653T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113724	NM_032590.5(KDM2B):c.2018C>T (p.Thr673Met)	KDM2B (T642M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039968	NM_032590.5(KDM2B):c.1960-6_1960-3del	KDM2B	Deletion (intron variant)	KDM2B-related condition	GLikely benign
Select item 3113723	NM_032590.5(KDM2B):c.1952G>A (p.Cys651Tyr)	KDM2B (C651Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446153	NM_032590.5(KDM2B):c.1946G>A (p.Arg649Gln)	KDM2B (R618Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2574714	NM_032590.5(KDM2B):c.1900AAG[1] (p.Lys635del)	KDM2B (K604del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic

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