"Ambry Genetics"[submitter] AND "KDM2B"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3314901	NM_025126.4(RNF34):c.103G>A (p.Ala35Thr)	KDM2B, RNF34 (A35T +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 3314896	NM_025126.4(RNF34):c.262G>A (p.Val88Ile)	KDM2B, RNF34 (V89I +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 3314899	NM_025126.4(RNF34):c.301A>G (p.Thr101Ala)	KDM2B, RNF34 (T101A +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 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 3314902	NM_025126.4(RNF34):c.613A>G (p.Arg205Gly)	KDM2B, RNF34 (R13G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 3314900	NM_025126.4(RNF34):c.752T>A (p.Val251Glu)	KDM2B, RNF34 (V251E +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 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 3314898	NM_025126.4(RNF34):c.1001A>G (p.Asp334Gly)	KDM2B, RNF34 (D335G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3287881	NM_032590.5(KDM2B):c.3487G>A (p.Ala1163Thr)	KDM2B (A1163T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 3287879	NM_032590.5(KDM2B):c.2374C>T (p.Arg792Cys)	KDM2B (R761C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3287884	NM_032590.5(KDM2B):c.2329A>G (p.Arg777Gly)	KDM2B (R777G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3287883	NM_032590.5(KDM2B):c.1849G>A (p.Glu617Lys)	KDM2B (E586K +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 2240973	NM_032590.5(KDM2B):c.1841G>T (p.Arg614Leu)	KDM2B (R583L +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 3287880	NM_032590.5(KDM2B):c.1742C>T (p.Ala581Val)	KDM2B (A550V +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 2468536	NM_032590.5(KDM2B):c.1687G>T (p.Ala563Ser)	KDM2B (A563S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458649	NM_032590.5(KDM2B):c.1531G>A (p.Glu511Lys)	KDM2B (E511K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296129	NM_032590.5(KDM2B):c.1487G>T (p.Gly496Val)	KDM2B (G465V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224752	NM_032590.5(KDM2B):c.1484C>G (p.Thr495Ser)	KDM2B (T464S +1 more)	Single nucleotide variant (missense 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 2352705	NM_032590.5(KDM2B):c.1430C>T (p.Ser477Leu)	KDM2B (S446L +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 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 2373242	NM_032590.5(KDM2B):c.1201G>A (p.Gly401Ser)	KDM2B (G401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2275559	NM_032590.5(KDM2B):c.872G>A (p.Arg291His)	KDM2B (R291H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2375278	NM_032590.5(KDM2B):c.446C>T (p.Thr149Met)	KDM2B (T149M +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 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 2302602	NM_032590.5(KDM2B):c.193G>A (p.Val65Ile)	KDM2B (V65I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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Items: 81