RHBDD2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 58896	GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1	CCL24, CCL26 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2396046	NM_001040456.3(RHBDD2):c.7G>A (p.Ala3Thr)	RHBDD2 (A3T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308415	NM_001040456.3(RHBDD2):c.16C>T (p.Pro6Ser)	RHBDD2 (P6S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371108	NM_001040456.3(RHBDD2):c.36C>G (p.Cys12Trp)	RHBDD2 (C12W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616080	NM_001040456.3(RHBDD2):c.49G>A (p.Val17Met)	RHBDD2 (V17M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153962	NM_001040456.3(RHBDD2):c.64T>A (p.Phe22Ile)	RHBDD2 (F22I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153958	NM_001040456.3(RHBDD2):c.248T>C (p.Ile83Thr)	RHBDD2 (I83T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2203918	NM_001040456.3(RHBDD2):c.253C>T (p.Arg85Cys)	RHBDD2 (R85C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 162383	NM_001040456.3(RHBDD2):c.254G>A (p.Arg85His)	RHBDD2 (R85H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3314165	NM_001040456.3(RHBDD2):c.335T>C (p.Ile112Thr)	RHBDD2 (I112T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530894	NM_001040456.3(RHBDD2):c.361T>C (p.Ser121Pro)	RHBDD2 (S121P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314161	NM_001040456.3(RHBDD2):c.442G>A (p.Val148Ile)	RHBDD2 (V7I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153959	NM_001040456.3(RHBDD2):c.445C>A (p.Arg149Ser)	RHBDD2 (R149S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314163	NM_001040456.3(RHBDD2):c.521C>T (p.Ala174Val)	RHBDD2 (A33V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153960	NM_001040456.3(RHBDD2):c.542C>T (p.Thr181Ile)	RHBDD2 (T40I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314162	NM_001040456.3(RHBDD2):c.583G>A (p.Ala195Thr)	RHBDD2 (A195T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405383	NM_001040456.3(RHBDD2):c.613G>A (p.Asp205Asn)	RHBDD2 (D64N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320601	NM_001040456.3(RHBDD2):c.632C>T (p.Ala211Val)	RHBDD2 (A211V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153961	NM_001040456.3(RHBDD2):c.639G>T (p.Lys213Asn)	RHBDD2 (K77N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217329	NM_001040456.3(RHBDD2):c.654C>G (p.Phe218Leu)	RHBDD2 (F218L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355732	NM_001040456.3(RHBDD2):c.725C>T (p.Ala242Val)	RHBDD2 (A106V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589971	NM_001040456.3(RHBDD2):c.758C>T (p.Ser253Phe)	RHBDD2 (S105F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481809	NM_001040456.3(RHBDD2):c.820C>G (p.His274Asp)	RHBDD2 (H126D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614389	NM_001040456.3(RHBDD2):c.872T>C (p.Met291Thr)	RHBDD2 (M143T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559327	NM_001040456.3(RHBDD2):c.937A>G (p.Asn313Asp)	RHBDD2 (N177D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153964	NM_001040456.3(RHBDD2):c.959A>C (p.Tyr320Ser)	RHBDD2 (Y320S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153965	NM_001040456.3(RHBDD2):c.971C>T (p.Ala324Val)	RHBDD2 (A183V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657616	NM_001040456.3(RHBDD2):c.1008G>A (p.Val336=)	RHBDD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2204295	NM_001040456.3(RHBDD2):c.1010A>C (p.Asn337Thr)	RHBDD2 (N189T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2684489	GRCh37/hg19 7q11.23(chr7:75148973-75591416)x3	CCL24, CCL26 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808137	GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3	SRRM3, YWHAG +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807990	GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3	CCL24, CCL26 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807835	GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1	CCL24, CCL26 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 814994	GRCh37/hg19 7q11.23(chr7:75497813-75567748)x1	RHBDD2, POR	Copy number loss	not provided	GUncertain significance
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688947	GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3	CCL24, CCL26 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688612	GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3	CCL24, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687818	GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1	CCL24, CCL26 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563386	GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1	POR, YWHAG +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 563385	GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3	SRRM3, CCL26 +11 more	Copy number gain	not provided	GUncertain significance
Select item 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563301	GRCh37/hg19 7q11.23(chr7:75468055-75585952)x1	POR, RHBDD2	Copy number loss	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443046	GRCh37/hg19 7q11.23(chr7:75155154-75729363)x1	CCL24, CCL26 +6 more	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441923	GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	ABHD11, ABHD11-AS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 69