ClinVar for Gene (Select 10282) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684495	GRCh37/hg19 7q21.3(chr7:93307646-93637358)x3	BET1, GNG11 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2612002	NM_005868.6(BET1):c.279A>T (p.Gln93His)	BET1 (Q93H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559572	NM_005868.6(BET1):c.116T>G (p.Leu39Arg)	BET1, BET1-AS1 +1 more (L39R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1808119	GRCh37/hg19 7q21.3(chr7:93539781-93623201)x1	BET1, GNG11 +1 more	Copy number loss	not provided	GUncertain significance
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 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979633	GRCh37/hg19 7q21.3(chr7:93209718-94202220)x3	BET1, GNG11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979632	GRCh37/hg19 7q21.3(chr7:93588920-93783393)x1	BET1	Copy number loss	not provided	GUncertain significance
Select item 977650	NM_005868.6(BET1):c.152T>G (p.Ile51Ser)	BET1 (I51S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	CASD1, COL1A2 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
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 619194	NM_005868.6(BET1):c.202G>C (p.Asp68His)	BET1 (D68H)	Single nucleotide variant (missense variant +1 more)	Progressive muscle weakness +1 more	GUncertain significance
Select item 619186	NM_005868.6(BET1):c.134del (p.Ala45fs)	BET1 (A45fs)	Deletion (frameshift variant +1 more)	Progressive muscle weakness +1 more	GUncertain significance
Select item 563412	GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1	C7orf76, CASD1 +15 more	Copy number loss	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	ASB4, BET1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26