CBX6[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 60013	GRCh38/hg38 22q13.1(chr22:38696778-38898386)x1	CBX6, DNAL4 +20 more	Copy number loss	See cases	GUncertain significance
Select item 151374	GRCh38/hg38 22q13.1(chr22:38846447-38976338)x3	APOBEC3A, CBX6 +8 more	Copy number gain	See cases	GLikely benign
Select item 2527494	NM_014292.5(CBX6):c.1124G>C (p.Ser375Thr)	CBX6 (S357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138072	NM_014292.5(CBX6):c.1100A>G (p.Asn367Ser)	CBX6 (N367S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138071	NM_014292.5(CBX6):c.1081G>A (p.Glu361Lys)	CBX6 (E361K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138070	NM_014292.5(CBX6):c.1028C>A (p.Ala343Asp)	CBX6 (A343D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231017	NM_014292.5(CBX6):c.911C>T (p.Ala304Val)	CBX6 (A304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549742	NM_014292.5(CBX6):c.908C>G (p.Ser303Cys)	CBX6 (S285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494720	NM_014292.5(CBX6):c.903C>G (p.Ser301Arg)	CBX6 (S283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138077	NM_014292.5(CBX6):c.874C>G (p.Pro292Ala)	CBX6 (P274A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539625	NM_014292.5(CBX6):c.867C>A (p.Asp289Glu)	CBX6 (D271E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495571	NM_014292.5(CBX6):c.853T>C (p.Ser285Pro)	CBX6 (S267P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138076	NM_014292.5(CBX6):c.847C>T (p.Pro283Ser)	CBX6 (P265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138075	NM_014292.5(CBX6):c.734C>A (p.Pro245Gln)	CBX6 (P227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488342	NM_014292.5(CBX6):c.681G>A (p.Met227Ile)	CBX6 (M227I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263682	NM_014292.5(CBX6):c.680T>G (p.Met227Arg)	CBX6 (M209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381583	NM_014292.5(CBX6):c.598C>T (p.Pro200Ser)	CBX6 (P200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594375	NM_014292.5(CBX6):c.512G>A (p.Arg171Gln)	CBX6 (R153Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138073	NM_014292.5(CBX6):c.421G>T (p.Gly141Trp)	CBX6 (G141W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320250	NM_014292.5(CBX6):c.419A>T (p.Gln140Leu)	CBX6 (Q122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263681	NM_014292.5(CBX6):c.333C>G (p.His111Gln)	CBX6 (H93Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263684	NM_014292.5(CBX6):c.301C>G (p.Pro101Ala)	CBX6 (P101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780078	NM_014292.5(CBX6):c.216G>A (p.Arg72=)	CBX6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3138074	NM_014292.5(CBX6):c.59G>C (p.Arg20Pro)	CBX6, LOC130067440 (R20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2685676	GRCh37/hg19 22q13.1(chr22:39040762-39271911)x1	CBX6, CBY1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 46