CBX4[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 2382420	NM_003655.3(CBX4):c.1676C>T (p.Thr559Met)	CBX4 (T559M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263494	NM_003655.3(CBX4):c.1648C>T (p.Leu550Phe)	CBX4 (L550F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287315	NM_003655.3(CBX4):c.1609T>C (p.Phe537Leu)	CBX4 (F537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138068	NM_003655.3(CBX4):c.1593C>A (p.Ser531Arg)	CBX4 (S531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540334	NM_003655.3(CBX4):c.1565C>T (p.Ala522Val)	CBX4 (A522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769436	NM_003655.3(CBX4):c.1515GGC[5] (p.Ala509_Ala510dup)	CBX4	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2285379	NM_003655.3(CBX4):c.1453G>A (p.Gly485Arg)	CBX4 (G485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545075	NM_003655.3(CBX4):c.1387A>T (p.Ile463Phe)	CBX4 (I463F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138067	NM_003655.3(CBX4):c.1384G>A (p.Val462Ile)	CBX4 (V462I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138066	NM_003655.3(CBX4):c.1379C>T (p.Pro460Leu)	CBX4 (P460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467362	NM_003655.3(CBX4):c.1357C>T (p.Pro453Ser)	CBX4 (P453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293410	NM_003655.3(CBX4):c.1343C>T (p.Pro448Leu)	CBX4 (P448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138065	NM_003655.3(CBX4):c.1339C>T (p.Arg447Cys)	CBX4 (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459467	NM_003655.3(CBX4):c.1310C>T (p.Thr437Ile)	CBX4 (T437I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138064	NM_003655.3(CBX4):c.1246G>C (p.Glu416Gln)	CBX4 (E416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517199	NM_003655.3(CBX4):c.1200C>A (p.His400Gln)	CBX4 (H400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349616	NM_003655.3(CBX4):c.1191C>G (p.His397Gln)	CBX4 (H397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530237	NM_003655.3(CBX4):c.1183C>G (p.His395Asp)	CBX4 (H395D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138063	NM_003655.3(CBX4):c.1165C>A (p.His389Asn)	CBX4 (H389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138062	NM_003655.3(CBX4):c.1141T>C (p.Ser381Pro)	CBX4 (S381P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263680	NM_003655.3(CBX4):c.1103T>A (p.Leu368Gln)	CBX4 (L368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263677	NM_003655.3(CBX4):c.1060G>T (p.Ala354Ser)	CBX4 (A354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138060	NM_003655.3(CBX4):c.1048C>A (p.Pro350Thr)	CBX4 (P350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138059	NM_003655.3(CBX4):c.1036C>T (p.Arg346Cys)	CBX4 (R346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263679	NM_003655.3(CBX4):c.1022A>G (p.Gln341Arg)	CBX4 (Q341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138058	NM_003655.3(CBX4):c.1013C>T (p.Pro338Leu)	CBX4 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306064	NM_003655.3(CBX4):c.1003G>A (p.Val335Ile)	CBX4 (V335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221398	NM_003655.3(CBX4):c.940G>C (p.Ala314Pro)	CBX4 (A314P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407285	NM_003655.3(CBX4):c.893C>T (p.Ala298Val)	CBX4 (A298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277944	NM_003655.3(CBX4):c.859G>A (p.Gly287Arg)	CBX4 (G287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138069	NM_003655.3(CBX4):c.743G>A (p.Gly248Asp)	CBX4 (G248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263678	NM_003655.3(CBX4):c.707C>T (p.Ala236Val)	CBX4 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378200	NM_003655.3(CBX4):c.637C>A (p.Pro213Thr)	CBX4 (P213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509165	NM_003655.3(CBX4):c.413C>T (p.Ala138Val)	CBX4 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328329	NM_003655.3(CBX4):c.280A>T (p.Thr94Ser)	CBX4 (T94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722969	NM_003655.3(CBX4):c.210G>C (p.Arg70=)	CBX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331818	NM_003655.3(CBX4):c.209G>A (p.Arg70Gln)	CBX4 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138061	NM_003655.3(CBX4):c.112A>G (p.Lys38Glu)	CBX4 (K38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 686505	GRCh37/hg19 17q25.3(chr17:77067571-77979203)x3	CBX2, CBX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 59