ZBTB9[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2404263	NM_152735.4(ZBTB9):c.76G>A (p.Glu26Lys)	ZBTB9 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294957	NM_152735.4(ZBTB9):c.107A>C (p.Glu36Ala)	ZBTB9 (E36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192223	NM_152735.4(ZBTB9):c.137A>G (p.Lys46Arg)	ZBTB9 (K46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349875	NM_152735.4(ZBTB9):c.266G>C (p.Ser89Thr)	ZBTB9 (S89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192224	NM_152735.4(ZBTB9):c.338A>T (p.Asp113Val)	ZBTB9 (D113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293984	NM_152735.4(ZBTB9):c.394G>A (p.Asp132Asn)	ZBTB9 (D132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334003	NM_152735.4(ZBTB9):c.551C>T (p.Ala184Val)	ZBTB9 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192225	NM_152735.4(ZBTB9):c.593G>C (p.Gly198Ala)	ZBTB9 (G198A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334005	NM_152735.4(ZBTB9):c.619C>G (p.Leu207Val)	ZBTB9 (L207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536628	NM_152735.4(ZBTB9):c.686C>T (p.Ala229Val)	ZBTB9 (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282012	NM_152735.4(ZBTB9):c.731T>G (p.Phe244Cys)	ZBTB9 (F244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296944	NM_152735.4(ZBTB9):c.811G>A (p.Glu271Lys)	ZBTB9 (E271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192226	NM_152735.4(ZBTB9):c.824C>G (p.Pro275Arg)	ZBTB9 (P275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475047	NM_152735.4(ZBTB9):c.848T>G (p.Phe283Cys)	ZBTB9 (F283C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225404	NM_152735.4(ZBTB9):c.869T>G (p.Phe290Cys)	ZBTB9 (F290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334004	NM_152735.4(ZBTB9):c.884A>C (p.Glu295Ala)	ZBTB9 (E295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325892	NM_152735.4(ZBTB9):c.997G>A (p.Gly333Arg)	ZBTB9 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397593	NM_152735.4(ZBTB9):c.1088C>T (p.Ala363Val)	ZBTB9 (A363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246017	NC_000006.11:g.(?_33415675)_(33422480_?)del	SYNGAP1, ZBTB9	Deletion	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 3246015	NC_000006.11:g.(?_33388042)_(33679463_?)del	ZBTB9, BAK1 +3 more	Deletion	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 832257	NC_000006.12:g.(?_33391986)_(33672228_?)dup	BAK1, CUTA +5 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 685034	GRCh37/hg19 6p21.32(chr6:33388971-33428369)x3	SYNGAP1, ZBTB9	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 30