KDM2B-DT[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +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 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 777690	NM_032590.5(KDM2B):c.83_84del (p.Thr28fs)	KDM2B, KDM2B-DT (T28fs)	Deletion (frameshift variant)	not provided	GLikely benign
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 2429093	NM_032590.5(KDM2B):c.64_65del (p.Glu22fs)	KDM2B, KDM2B-DT (E22fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 770235	NM_032590.5(KDM2B):c.56A>G (p.His19Arg)	KDM2B, KDM2B-DT (H19R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 403007	NM_032590.5(KDM2B):c.46C>T (p.Arg16Ter)	KDM2B, KDM2B-DT (R16*)	Single nucleotide variant (nonsense)	not specified	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 3043627	NM_032590.5(KDM2B):c.-4C>T	KDM2B, KDM2B-DT	Single nucleotide variant (non-coding transcript variant +1 more)	KDM2B-related disorder	GBenign