"PreventionGenetics, part of Exact Sciences"[submitter] AND "KDM2B"[ge - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2630233	NM_032590.5(KDM2B):c.*167G>A	KDM2B (E1265K)	Single nucleotide variant (missense variant +1 more)	KDM2B-related disorder	GUncertain significance
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 3045774	NM_032590.5(KDM2B):c.*150C>T	KDM2B (T1259I)	Single nucleotide variant (missense variant +1 more)	KDM2B-related disorder	GUncertain significance
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 3038962	NM_032590.5(KDM2B):c.3750C>T (p.His1250=)	KDM2B	Single nucleotide variant (synonymous 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 3060938	NM_032590.5(KDM2B):c.3570G>A (p.Gln1190=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	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 3035247	NM_032590.5(KDM2B):c.3449-4C>G	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 720488	NM_032590.5(KDM2B):c.3174C>T (p.Asp1058=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder +1 more	GBenign
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 3055787	NM_032590.5(KDM2B):c.2901C>T (p.Asn967=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3059651	NM_032590.5(KDM2B):c.2724C>T (p.Asp908=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GBenign
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 3035115	NM_032590.5(KDM2B):c.2452-7C>G	KDM2B	Single nucleotide variant (intron 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 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 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 3042707	NM_032590.5(KDM2B):c.2334G>C (p.Ser778=)	KDM2B	Single nucleotide variant (synonymous variant)	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 3034319	NM_032590.5(KDM2B):c.2175C>T (p.Ala725=)	KDM2B	Single nucleotide variant (synonymous 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 3039968	NM_032590.5(KDM2B):c.1960-6_1960-3del	KDM2B	Deletion (intron 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 2643407	NM_032590.5(KDM2B):c.1614C>T (p.Ile538=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder +1 more	GBenign/Likely 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 3058538	NM_032590.5(KDM2B):c.931+10C>T	KDM2B	Single nucleotide variant (intron 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 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 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 3058484	NM_032590.5(KDM2B):c.486G>C (p.Thr162=)	KDM2B	Single nucleotide variant (synonymous variant)	KDM2B-related disorder	GLikely benign
Select item 3037316	NM_032590.5(KDM2B):c.398-7C>T	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder	GLikely benign
Select item 715044	NM_032590.5(KDM2B):c.397+7C>T	KDM2B	Single nucleotide variant (intron variant)	KDM2B-related disorder +1 more	GBenign
Select item 770235	NM_032590.5(KDM2B):c.56A>G (p.His19Arg)	KDM2B, KDM2B-DT (H19R)	Single nucleotide variant (missense variant)	KDM2B-related disorder +1 more	GLikely benign
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

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Items: 38