ClinVar for Gene (Select 84678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ANAPC5, B3GNT4 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CDK2AP1, DIABLO +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3235854	NM_032590.5(KDM2B):c.778-2A>G	KDM2B	Single nucleotide variant (splice acceptor variant)	KDM2B-related disorder	GLikely pathogenic
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 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 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 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 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 3113739	NM_032590.5(KDM2B):c.74A>G (p.Lys25Arg)	KDM2B, KDM2B-DT (K25R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 3113733	NM_032590.5(KDM2B):c.277A>T (p.Asn93Tyr)	KDM2B (N62Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3113729	NM_032590.5(KDM2B):c.259A>G (p.Met87Val)	KDM2B (M87V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 3113722	NM_032590.5(KDM2B):c.1899G>A (p.Met633Ile)	KDM2B (M602I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113721	NM_032590.5(KDM2B):c.1757A>G (p.Lys586Arg)	KDM2B (K555R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113720	NM_032590.5(KDM2B):c.1735-1G>A	KDM2B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 3113719	NM_032590.5(KDM2B):c.1468T>C (p.Tyr490His)	KDM2B (Y459H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113717	NM_032590.5(KDM2B):c.1159G>C (p.Glu387Gln)	KDM2B (E356Q +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 disorder	GBenign
Select item 3059884	NM_032590.5(KDM2B):c.2418C>T (p.Tyr806=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GBenign
Select item 3059651	NM_032590.5(KDM2B):c.2724C>T (p.Asp908=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GBenign
Select item 3058765	NM_032590.5(KDM2B):c.*175C>T	KDM2B	Single nucleotide variant (3 prime UTR variant)	KDM2B-related disorder	GLikely benign
Select item 3058538	NM_032590.5(KDM2B):c.931+10C>T	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 3058484	NM_032590.5(KDM2B):c.486G>C (p.Thr162=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3055923	NM_032590.5(KDM2B):c.1872C>T (p.Cys624=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3055787	NM_032590.5(KDM2B):c.2901C>T (p.Asn967=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3051672	NM_032590.5(KDM2B):c.699C>T (p.Ser233=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3050555	NM_032590.5(KDM2B):c.1431G>A (p.Ser477=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3047853	NM_032590.5(KDM2B):c.1256C>T (p.Pro419Leu)	KDM2B (P388L +1 more)	Single nucleotide variant (missense variant)	KDM2B-related disorder	GLikely benign
Select item 3045774	NM_032590.5(KDM2B):c.*150C>T	KDM2B (T1259I)	Single nucleotide variant (missense variant +1 more)	KDM2B-related disorder	GUncertain significance
Select item 3043627	NM_032590.5(KDM2B):c.-4C>T	KDM2B, KDM2B-DT	Single nucleotide variant (non-coding transcript variant +1 more)	KDM2B-related disorder	GBenign
Select item 3043603	NM_032590.5(KDM2B):c.*163G>A	KDM2B	Single nucleotide variant (synonymous variant +1 more)	KDM2B-related disorder	GLikely benign
Select item 3042990	NM_032590.5(KDM2B):c.2190+10G>A	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 3042707	NM_032590.5(KDM2B):c.2334G>C (p.Ser778=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3039968	NM_032590.5(KDM2B):c.1960-6_1960-3del	KDM2B	Deletion (intron variant)	KDM2B-related disorder	GLikely benign
Select item 3039957	NM_032590.5(KDM2B):c.683+3A>G	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GBenign
Select item 3039617	NM_032590.5(KDM2B):c.576+8C>T	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 3039464	NM_032590.5(KDM2B):c.2130C>T (p.Asn710=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GBenign
Select item 3038962	NM_032590.5(KDM2B):c.3750C>T (p.His1250=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GBenign
Select item 3037316	NM_032590.5(KDM2B):c.398-7C>T	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 3035893	NM_032590.5(KDM2B):c.3162G>T (p.Ser1054=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3035247	NM_032590.5(KDM2B):c.3449-4C>G	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 3035115	NM_032590.5(KDM2B):c.2452-7C>G	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GBenign
Select item 3034878	NM_032590.5(KDM2B):c.3591G>A (p.Pro1197=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GBenign
Select item 3034319	NM_032590.5(KDM2B):c.2175C>T (p.Ala725=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3033790	NM_032590.5(KDM2B):c.3813C>T (p.Thr1271=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3024224	NM_032590.5(KDM2B):c.1847G>A (p.Cys616Tyr)	KDM2B (C585Y +1 more)	Single nucleotide variant (missense variant)	KDM2B Gene Mutation	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 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2663438	NM_032590.5(KDM2B):c.1142C>T (p.Thr381Ile)	KDM2B (T350I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643410	NM_032590.5(KDM2B):c.798A>G (p.Pro266=)	KDM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643409	NM_032590.5(KDM2B):c.1494C>T (p.Pro498=)	KDM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643408	NM_032590.5(KDM2B):c.1501G>C (p.Glu501Gln)	KDM2B (E470Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643407	NM_032590.5(KDM2B):c.1614C>T (p.Ile538=)	KDM2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 2634725	NM_032590.5(KDM2B):c.2365G>A (p.Gly789Ser)	KDM2B (G758S +1 more)	Single nucleotide variant (missense variant)	KDM2B-related disorder	GUncertain significance
Select item 2631460	NM_032590.5(KDM2B):c.500G>A (p.Arg167Gln)	KDM2B (R136Q +1 more)	Single nucleotide variant (missense variant)	KDM2B-related disorder	GUncertain significance
Select item 2630844	NM_032590.5(KDM2B):c.2686G>T (p.Glu896Ter)	KDM2B (E827* +1 more)	Single nucleotide variant (nonsense)	KDM2B-related disorder	GUncertain significance
Select item 2630233	NM_032590.5(KDM2B):c.*167G>A	KDM2B (E1265K)	Single nucleotide variant (missense variant +1 more)	KDM2B-related disorder	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 disorder	GUncertain significance
Select item 2615368	NM_032590.5(KDM2B):c.1166T>C (p.Met389Thr)	KDM2B (M358T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2597618	NM_032590.5(KDM2B):c.1202G>T (p.Gly401Val)	KDM2B (G401V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2588276	NM_032590.5(KDM2B):c.1181C>T (p.Pro394Leu)	KDM2B (P363L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582184	NM_032590.5(KDM2B):c.23del (p.Gly8fs)	KDM2B, KDM2B-DT (G8fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2578698	GRCh37/hg19 12q24.31(chr12:121890923-122473333)x1	BCL7A, CFAP251 +8 more	Copy number loss	not provided	GLikely pathogenic
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 2575672	NM_032590.5(KDM2B):c.777+5G>C	KDM2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2574714	NM_032590.5(KDM2B):c.1900AAG[1] (p.Lys635del)	KDM2B (K604del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
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 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 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 2527753	NM_032590.5(KDM2B):c.1847G>T (p.Cys616Phe)	KDM2B (C585F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2516521	NM_032590.5(KDM2B):c.767G>A (p.Arg256Gln)	KDM2B (R225Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2508361	NM_032590.5(KDM2B):c.1397T>C (p.Leu466Pro)	KDM2B (L435P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 2500628	NM_032590.5(KDM2B):c.1807A>G (p.Thr603Ala)	KDM2B (T572A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499698	NM_032590.5(KDM2B):c.2604+1G>A	KDM2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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