"GeneDx"[submitter] AND "KDM4B"[gene] - ClinVar

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Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1704144	NM_015015.3(KDM4B):c.26A>G (p.Gln9Arg)	KDM4B (Q9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372403	NM_015015.3(KDM4B):c.67G>C (p.Glu23Gln)	KDM4B (E23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579403	NM_015015.3(KDM4B):c.92A>G (p.Tyr31Cys)	KDM4B (Y31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367742	NM_015015.3(KDM4B):c.122A>G (p.His41Arg)	KDM4B (H41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369017	NM_015015.3(KDM4B):c.141G>A (p.Lys47=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2579404	NM_015015.3(KDM4B):c.144C>G (p.Ile48Met)	KDM4B (I48M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224153	NM_015015.3(KDM4B):c.348T>C (p.Asp116=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3252680	NM_015015.3(KDM4B):c.432+1G>C	KDM4B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1312409	NM_015015.3(KDM4B):c.432+2dup	KDM4B	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 2504350	NM_015015.3(KDM4B):c.436G>A (p.Val146Met)	KDM4B (V146M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372802	NM_015015.3(KDM4B):c.514G>A (p.Val172Met)	KDM4B (V172M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806501	NM_015015.3(KDM4B):c.519C>G (p.Asn173Lys)	KDM4B (N173K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369607	NM_015015.3(KDM4B):c.524C>T (p.Pro175Leu)	KDM4B (P175L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343311	NM_015015.3(KDM4B):c.527A>G (p.Tyr176Cys)	KDM4B (Y176C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581905	NM_015015.3(KDM4B):c.589A>G (p.Ser197Gly)	KDM4B (S197G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254343	NM_015015.3(KDM4B):c.626+11G>A	KDM4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983228	NM_015015.3(KDM4B):c.664C>T (p.Arg222Trp)	KDM4B (R222W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3368639	NM_015015.3(KDM4B):c.740C>T (p.Ser247Leu)	KDM4B (S247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504408	NM_015015.3(KDM4B):c.760T>A (p.Tyr254Asn)	KDM4B (Y254N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700848	NM_015015.3(KDM4B):c.778C>G (p.Arg260Gly)	KDM4B (R260G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327270	NM_015015.3(KDM4B):c.803T>C (p.Phe268Ser)	KDM4B (F268S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443404	NM_015015.3(KDM4B):c.847G>A (p.Gly283Arg)	KDM4B (G283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252658	NM_015015.3(KDM4B):c.871A>G (p.Asn291Asp)	KDM4B (N291D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367641	NM_015015.3(KDM4B):c.886C>T (p.Arg296Trp)	KDM4B (R296W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371434	NM_015015.3(KDM4B):c.899A>C (p.Tyr300Ser)	KDM4B (Y300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430508	NM_015015.3(KDM4B):c.953T>C (p.Met318Thr)	KDM4B (M318T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369780	NM_015015.3(KDM4B):c.1046C>A (p.Ala349Glu)	KDM4B (A349E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573909	NM_015015.3(KDM4B):c.1072T>C (p.Trp358Arg)	KDM4B (W358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222540	NM_015015.3(KDM4B):c.1080A>G (p.Ala360=)	KDM4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3252728	NM_015015.3(KDM4B):c.1114A>G (p.Arg372Gly)	KDM4B (R372G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684134	NM_015015.3(KDM4B):c.1151A>C (p.Lys384Thr)	KDM4B (K384T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252278	NM_015015.3(KDM4B):c.1226AGG[2] (p.Glu411del)	KDM4B (E411del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3371236	NM_015015.3(KDM4B):c.1275_1280del (p.Gln426_Pro427del)	KDM4B	Deletion	not provided	GUncertain significance
Select item 3368790	NM_015015.3(KDM4B):c.1340C>T (p.Pro447Leu)	KDM4B (P447L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507309	NM_015015.3(KDM4B):c.1392_1406dup (p.Pro469_Pro470insGlnLeuProProPro)	KDM4B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2429729	NM_015015.3(KDM4B):c.1543_1548dup (p.Glu516_Glu517insSerGlu)	KDM4B	Duplication (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2502130	NM_015015.3(KDM4B):c.2173C>T (p.Arg725Ter)	KDM4B (R725* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3369154	NM_015015.3(KDM4B):c.2177C>T (p.Pro726Leu)	KDM4B (P726L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983227	NM_015015.3(KDM4B):c.2303A>G (p.His768Arg)	KDM4B (H768R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2502683	NM_015015.3(KDM4B):c.2425A>G (p.Met809Val)	KDM4B (M809V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315492	NM_015015.3(KDM4B):c.2429C>T (p.Thr810Ile)	KDM4B (T810I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253184	NM_015015.3(KDM4B):c.2636A>G (p.His879Arg)	KDM4B (H879R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373336	NM_015015.3(KDM4B):c.2642C>T (p.Thr881Ile)	KDM4B (T881I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572929	NM_015015.3(KDM4B):c.2846A>C (p.Glu949Ala)	KDM4B (E949A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361470	NM_015015.3(KDM4B):c.190G>A (p.Asp64Asn)	KDM4B (D64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360758	NM_015015.3(KDM4B):c.2476G>A (p.Glu826Lys)	KDM4B (E826K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360023	NM_015015.3(KDM4B):c.3280G>A (p.Ala1094Thr)	KDM4B (A1094T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 49