RBBP9[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 59976	GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1	DZANK1, LOC126862987 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2373412	NM_006606.3(RBBP9):c.532G>A (p.Val178Ile)	RBBP9 (V178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558224	NM_006606.3(RBBP9):c.519A>C (p.Glu173Asp)	RBBP9 (E173D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652222	NM_006606.3(RBBP9):c.450C>T (p.Ala150=)	RBBP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487309	NM_006606.3(RBBP9):c.418T>C (p.Phe140Leu)	RBBP9 (F140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152091	NM_006606.3(RBBP9):c.365A>G (p.Lys122Arg)	RBBP9 (K122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152090	NM_006606.3(RBBP9):c.326G>C (p.Arg109Pro)	RBBP9 (R109P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517314	NM_006606.3(RBBP9):c.293C>T (p.Ala98Val)	RBBP9 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371613	NM_006606.3(RBBP9):c.239C>T (p.Ala80Val)	RBBP9 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152089	NM_006606.3(RBBP9):c.238G>A (p.Ala80Thr)	RBBP9 (A80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215963	NM_006606.3(RBBP9):c.191A>G (p.His64Arg)	RBBP9 (H64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551443	NM_006606.3(RBBP9):c.170C>G (p.Pro57Arg)	RBBP9 (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521424	NM_006606.3(RBBP9):c.49G>T (p.Asp17Tyr)	RBBP9 (D17Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334658	NM_006606.3(RBBP9):c.25A>G (p.Ile9Val)	RBBP9 (I9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248265	NC_000020.10:g.(?_17603729)_(18541384_?)del	RBBP9, RRBP1 +10 more	Deletion	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2425586	NC_000020.10:g.(?_18449649)_(18541384_?)dup	POLR3F, RBBP9 +1 more	Duplication	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 2424100	NC_000020.10:g.(?_18449649)_(18496400_?)dup	POLR3F, RBBP9 +1 more	Duplication	not provided	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686712	GRCh37/hg19 20p11.23(chr20:18326965-18735636)x1	DTD1, DZANK1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564624	GRCh37/hg19 20p11.23(chr20:18164841-18500917)x3	DZANK1, KAT14 +4 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 42