ClinVar for Gene (Select 154807) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188668	NM_173517.6(VKORC1L1):c.418A>G (p.Ile140Val)	VKORC1L1 (I140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657524	NM_173517.6(VKORC1L1):c.174C>T (p.Cys58=)	VKORC1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559566	NM_173517.6(VKORC1L1):c.412T>C (p.Phe138Leu)	VKORC1L1 (V101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315821	NM_173517.6(VKORC1L1):c.451C>T (p.Leu151Phe)	VKORC1L1 (P114L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267087	NM_173517.6(VKORC1L1):c.525G>T (p.Gln175His)	VKORC1L1 (G139* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2253738	NM_173517.6(VKORC1L1):c.145C>T (p.Leu49Phe)	VKORC1L1 (L49F)	Single nucleotide variant (missense variant)	not specified	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 1340571	GRCh37/hg19 7q11.21(chr7:64651626-66010636)x1	ASL, CRCP +4 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 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	GPathogenic
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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395083	GRCh37/hg19 7q11.21(chr7:65419380-65447270)x3	GUSB, VKORC1L1	Copy number gain	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 161827	NM_173517.6(VKORC1L1):c.493G>T (p.Glu165Ter)	VKORC1L1 (E165* +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 150828	GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3	ASL, CRCP +35 more	Copy number gain	See cases	GLikely benign
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 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25