"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810940	NM_031443.4(CCM2):c.48A>T (p.Pro16=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 618554	NM_031443.4(CCM2):c.71del (p.Gly24fs)	CCM2 (G45fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 261965	NM_031443.4(CCM2):c.157G>A (p.Val53Ile)	CCM2 (V53I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 261968	NM_031443.4(CCM2):c.246C>T (p.Pro82=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1330532	NM_031443.4(CCM2):c.305dup (p.His104fs)	CCM2 (H104fs +2 more)	Duplication (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 261971	NM_031443.4(CCM2):c.358G>A (p.Val120Ile)	CCM2 (V120I +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2 +2 more	GBenign
Select item 261972	NM_031443.4(CCM2):c.384G>A (p.Glu128=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2428633	NM_031443.4(CCM2):c.609+18C>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GBenign
Select item 510817	NM_031443.4(CCM2):c.804-12del	CCM2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 585628	NM_031443.4(CCM2):c.804-5C>T	CCM2	Single nucleotide variant (intron variant)	CCM2-related condition +2 more	GBenign/Likely benign
Select item 261974	NM_031443.4(CCM2):c.866G>A (p.Ser289Asn)	CCM2 (S289N +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2 +2 more	GBenign
Select item 261975	NM_031443.4(CCM2):c.915G>A (p.Thr305=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 668637	NM_031443.4(CCM2):c.980A>G (p.Asn327Ser)	CCM2 (N269S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 698207	NM_031443.4(CCM2):c.984G>A (p.Gly328=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 698208	NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)	CCM2 (T315M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 590646	NM_031443.4(CCM2):c.1260G>A (p.Glu420=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2 +1 more	GBenign
Select item 439462	NM_031443.4(CCM2):c.1290C>T (p.Ser430=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign