ClinVar for MedGen (Select 1714920) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068120	NM_016604.4(KDM3B):c.3009G>A (p.Met1003Ile)	KDM3B (M1003I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3066293	NM_016604.4(KDM3B):c.1309_1310del (p.Ser437fs)	KDM3B (S437fs)	Microsatellite (frameshift variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 3065060	NM_016604.4(KDM3B):c.4861G>C (p.Asp1621His)	KDM3B (D1621H)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2673279	NM_016604.4(KDM3B):c.4201A>G (p.Asn1401Asp)	KDM3B (N1401D)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 2664201	NM_016604.4(KDM3B):c.1991C>T (p.Thr664Ile)	KDM3B (T664I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2663849	NM_016604.4(KDM3B):c.1881del (p.Lys627fs)	KDM3B (K627fs)	Deletion (frameshift variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 2580684	NM_016604.4(KDM3B):c.5002G>T (p.Val1668Leu)	KDM3B (V1668L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505249	NM_016604.4(KDM3B):c.4631A>G (p.Tyr1544Cys)	KDM3B (Y1544C)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome +1 more	GPathogenic
Select item 2502360	NM_016604.4(KDM3B):c.4805G>A (p.Arg1602Lys)	KDM3B (R1602K)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2444396	NM_016604.4(KDM3B):c.2916G>A (p.Trp972Ter)	KDM3B (W972*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 2431910	NM_016604.4(KDM3B):c.5107G>T (p.Asp1703Tyr)	KDM3B (D1703Y)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2431858	NM_016604.4(KDM3B):c.423G>A (p.Leu141=)	KDM3B	Single nucleotide variant (synonymous variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 2203773	NM_016604.4(KDM3B):c.5070+1G>A	KDM3B	Single nucleotide variant (splice donor variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 1803986	NM_016604.4(KDM3B):c.2743_2745del (p.Arg915del)	KDM3B (R915del)	Deletion (inframe_deletion)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 1803742	NM_016604.4(KDM3B):c.2753G>A (p.Arg918His)	KDM3B (R918H)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 1708472	NM_016604.4(KDM3B):c.368C>T (p.Thr123Ile)	KDM3B (T123I)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 1706594	NM_016604.4(KDM3B):c.427C>T (p.Arg143Ter)	KDM3B (R143*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 1685359	NM_016604.4(KDM3B):c.4627G>A (p.Ala1543Thr)	KDM3B (A1543T)	Single nucleotide variant (missense variant)	See cases +1 more	GLikely pathogenic
Select item 1675993	NM_016604.4(KDM3B):c.5009G>C (p.Gly1670Ala)	KDM3B (G1670A)	Single nucleotide variant (missense variant)	Developmental disorder +2 more	GUncertain significance
Select item 1334599	NM_016604.4(KDM3B):c.3082C>T (p.Arg1028Trp)	KDM3B (R1028W)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 1300058	NM_016604.4(KDM3B):c.3489T>C (p.Gly1163=)	KDM3B	Single nucleotide variant (synonymous variant)	Diets-Jongmans syndrome +2 more	GBenign
Select item 1300057	NM_016604.4(KDM3B):c.766G>A (p.Ala256Thr)	KDM3B (A256T)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GBenign
Select item 1300056	NM_016604.4(KDM3B):c.714G>A (p.Glu238=)	KDM3B	Single nucleotide variant (synonymous variant)	Diets-Jongmans syndrome +1 more	GBenign
Select item 1227741	NM_016604.4(KDM3B):c.264C>T (p.Ile88=)	KDM3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1184390	NM_016604.4(KDM3B):c.950G>T (p.Gly317Val)	KDM3B (G317V)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 1065460	NM_016604.4(KDM3B):c.5097A>C (p.Lys1699Asn)	KDM3B (K1699N)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GUncertain significance
Select item 976703	NM_016604.4(KDM3B):c.2828G>A (p.Arg943Gln)	KDM3B (R943Q)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GPathogenic
Select item 973851	NM_016604.4(KDM3B):c.2693T>C (p.Phe898Ser)	KDM3B (F898S)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GLikely pathogenic
Select item 864853	NM_016604.4(KDM3B):c.133C>T (p.Arg45Ter)	KDM3B, LOC129994737 (R45*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GPathogenic
Select item 864852	NM_016604.4(KDM3B):c.3095A>T (p.Asp1032Val)	KDM3B (D1032V)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GPathogenic
Select item 864851	NM_016604.4(KDM3B):c.5191G>A (p.Glu1731Lys)	KDM3B (E1731K)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GPathogenic
Select item 864850	NM_016604.4(KDM3B):c.1007A>G (p.Asp336Gly)	KDM3B (D336G)	Single nucleotide variant (missense variant)	Diets-Jongmans syndrome	GPathogenic
Select item 864849	NM_016604.4(KDM3B):c.277G>T (p.Glu93Ter)	KDM3B (E93*)	Single nucleotide variant (nonsense)	Diets-Jongmans syndrome	GPathogenic

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Items: 33