"GeneDx"[submitter] AND "KDM2B"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
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 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 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 3365130	NM_032590.5(KDM2B):c.2857G>A (p.Glu953Lys)	KDM2B (E884K +1 more)	Single nucleotide variant (missense variant)	not provided	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 3343611	NM_032590.5(KDM2B):c.2815C>T (p.Arg939Trp)	KDM2B (R870W +1 more)	Single nucleotide variant (missense variant)	not provided	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 2499698	NM_032590.5(KDM2B):c.2604+1G>A	KDM2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3343292	NM_032590.5(KDM2B):c.2226C>A (p.Asn742Lys)	KDM2B (N711K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2446153	NM_032590.5(KDM2B):c.1946G>A (p.Arg649Gln)	KDM2B (R618Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340739	NM_032590.5(KDM2B):c.1913G>A (p.Gly638Asp)	KDM2B (G607D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340661	NM_032590.5(KDM2B):c.1913G>C (p.Gly638Ala)	KDM2B (G607A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2574714	NM_032590.5(KDM2B):c.1900AAG[1] (p.Lys635del)	KDM2B (K604del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 3342794	NM_032590.5(KDM2B):c.1846T>C (p.Cys616Arg)	KDM2B (C585R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3252805	NM_032590.5(KDM2B):c.1841G>C (p.Arg614Pro)	KDM2B (R583P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 3365883	NM_032590.5(KDM2B):c.1163C>G (p.Ser388Trp)	KDM2B (S357W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2575672	NM_032590.5(KDM2B):c.777+5G>C	KDM2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363216	NM_032590.5(KDM2B):c.407G>A (p.Arg136Gln)	KDM2B (R105Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365923	NM_032590.5(KDM2B):c.325C>T (p.Arg109Ter)	KDM2B (R109* +1 more)	Single nucleotide variant (nonsense)	not provided	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 3361641	NM_032590.5(KDM2B):c.354G>T (p.Met118Ile)	KDM2B (M118I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361464	NM_032590.5(KDM2B):c.2914C>G (p.Pro972Ala)	KDM2B (P903A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361435	NM_032590.5(KDM2B):c.3607C>T (p.Pro1203Ser)	KDM2B (P1134S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361205	NM_032590.5(KDM2B):c.1922G>A (p.Arg641His)	KDM2B (R610H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360328	NM_032590.5(KDM2B):c.127-11G>A	KDM2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3360282	NM_032590.5(KDM2B):c.806A>G (p.His269Arg)	KDM2B (H238R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 35