CCM2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427922	NM_031443.3(CCM2):c.-613A>G	CCM2	Single nucleotide variant	Cerebral cavernous malformation 2	Gnot provided
Select item 427917	NM_031443.4(CCM2):c.30+2639G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427925	NM_031443.4(CCM2):c.30+4465C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427914	NM_031443.4(CCM2):c.31-18122A>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427916	NM_031443.4(CCM2):c.31-14922C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 1278177	NM_031443.4(CCM2):c.31-10835A>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 522245	NM_031443.4(CCM2):c.31-10585G>C	CCM2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2657439	NM_031443.4(CCM2):c.31-10496C>G	CCM2 (P18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3058171	NM_031443.4(CCM2):c.31-10449G>T	CCM2	Single nucleotide variant (intron variant)	CCM2-related disorder	GLikely benign
Select item 2198628	NM_031443.4(CCM2):c.31-14G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 590656	NM_031443.4(CCM2):c.31-3C>A	CCM2	Single nucleotide variant (intron variant)	CCM2-related disorder	GUncertain significance
Select item 468335	NM_031443.4(CCM2):c.31-2A>G	CCM2	Single nucleotide variant (splice acceptor variant +1 more)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 2702639	NM_031443.4(CCM2):c.31-1G>C	CCM2	Single nucleotide variant (splice acceptor variant +1 more)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 468336	NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Insertion (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1978046	NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Indel (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 3379763	NM_031443.4(CCM2):c.44C>T (p.Ser15Leu)	CCM2 (S15L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2136534	NM_031443.4(CCM2):c.48A>G (p.Pro16=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
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 2021487	NM_031443.4(CCM2):c.50_54del (p.Phe17fs)	CCM2 (F17fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2021488	NM_031443.4(CCM2):c.55C>A (p.Arg19=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 447028	NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)	CCM2 (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2 +2 more	GPathogenic
Select item 2305788	NM_031443.4(CCM2):c.58G>A (p.Val20Ile)	CCM2 (V20I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 618554	NM_031443.4(CCM2):c.71del (p.Gly24fs)	CCM2 (G45fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2 +1 more	GPathogenic
Select item 590665	NM_031443.4(CCM2):c.79_80del (p.Lys26_Ser27insTer)	CCM2	Microsatellite (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1458144	NM_031443.4(CCM2):c.83_87del (p.Arg28fs)	CCM2 (R28fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1383573	NM_031443.4(CCM2):c.93del (p.Ala32fs)	CCM2 (A32fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1803741	NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)	CCM2 (K31N +1 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 804670	NM_031443.4(CCM2):c.98_123del (p.His33fs)	CCM2 (H54fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3003589	NM_031443.4(CCM2):c.120C>T (p.Arg40=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 376845	NM_031443.4(CCM2):c.122del (p.Pro41fs)	CCM2 (P41fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 493452	NM_031443.4(CCM2):c.126G>A (p.Leu42=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 952312	NM_031443.4(CCM2):c.130_131del (p.Thr44fs)	CCM2 (T44fs +1 more)	Microsatellite (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2626151	NM_031443.4(CCM2):c.130A>T (p.Thr44Ser)	CCM2 (T65S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 590648	NM_031443.4(CCM2):c.134_135del (p.Val45fs)	CCM2 (V66fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1344507	NM_031443.4(CCM2):c.147del (p.Leu49fs)	CCM2 (L49fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation	GPathogenic
Select item 1076028	NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)	CCM2 (E51* +1 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2506064	NM_031443.4(CCM2):c.153G>T (p.Glu51Asp)	CCM2 (E51D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1898468	NM_031443.4(CCM2):c.156C>T (p.Arg52=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 261965	NM_031443.4(CCM2):c.157G>A (p.Val53Ile)	CCM2 (V53I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 1776088	NM_031443.4(CCM2):c.159C>T (p.Val53=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3061342	NM_031443.4(CCM2):c.160G>T (p.Glu54Ter)	CCM2 (E54* +1 more)	Single nucleotide variant (nonsense +2 more)	CCM2-related disorder	GLikely pathogenic
Select item 1054801	NM_031443.4(CCM2):c.160G>A (p.Glu54Lys)	CCM2 (E54K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 917491	NM_031443.4(CCM2):c.164_165del (p.Pro55fs)	CCM2 (P55fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous angioma +1 more	GLikely pathogenic
Select item 590649	NM_031443.4(CCM2):c.169_172del (p.Arg57fs)	CCM2 (R78fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 2864552	NM_031443.4(CCM2):c.166del (p.Asp56fs)	CCM2 (D56fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 590650	NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	CCM2 (R57* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 524145	NM_031443.4(CCM2):c.174dup (p.Leu59fs)	CCM2 (L59fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1780546	NM_031443.4(CCM2):c.180C>T (p.Ser60=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 949782	NM_031443.4(CCM2):c.193_195del (p.Lys65del)	CCM2 (K65del +1 more)	Deletion (inframe_deletion +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 429309	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2 (E66fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1998853	NM_031443.4(CCM2):c.199dup (p.Val67fs)	CCM2 (V67fs +1 more)	Duplication (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2126404	NM_031443.4(CCM2):c.204+3A>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2576037	NM_031443.4(CCM2):c.204+8G>A	CCM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1922338	NM_031443.4(CCM2):c.204+11A>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 261966	NM_031443.4(CCM2):c.204+37C>T	CCM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 427908	NM_031443.4(CCM2):c.204+2040T>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427911	NM_031443.4(CCM2):c.205-11866_205-11863del	CCM2	Deletion (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 1178024	NM_031443.4(CCM2):c.205-230T>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261967	NM_031443.4(CCM2):c.205-36A>G	CCM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1546854	NM_031443.4(CCM2):c.205-18T>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 279739	NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)	CCM2 (Q72* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 570247	NM_031443.4(CCM2):c.219_220del (p.Leu73fs)	CCM2 (L73fs +2 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1438828	NM_031443.4(CCM2):c.221C>T (p.Thr74Met)	CCM2 (T16M +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 733083	NM_031443.4(CCM2):c.222G>A (p.Thr74=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2 +1 more	GBenign/Likely benign
Select item 2539203	NM_031443.4(CCM2):c.226A>T (p.Ile76Leu)	CCM2 (I18L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1070815	NM_031443.4(CCM2):c.228dup (p.Pro77fs)	CCM2 (P19fs +2 more)	Duplication (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1328001	NM_031443.4(CCM2):c.236_237del (p.Tyr79fs)	CCM2 (Y100fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 261968	NM_031443.4(CCM2):c.246C>T (p.Pro82=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1796412	NM_031443.4(CCM2):c.281A>G (p.Asn94Ser)	CCM2 (N36S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2036489	NM_031443.4(CCM2):c.288G>T (p.Lys96Asn)	CCM2 (K96N +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2685	NM_031443.4(CCM2):c.288+1G>A	CCM2	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 2	GPathogenic
Select item 2911090	NM_031443.4(CCM2):c.288+11C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 1277729	NM_031443.4(CCM2):c.288+171C>T	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 427912	NM_031443.4(CCM2):c.288+179G>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 590651	NM_031443.4(CCM2):c.289-19_352del	CCM2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2741929	NM_031443.4(CCM2):c.289-14G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 3340487	NM_031443.4(CCM2):c.289-2A>G	CCM2	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 2	GPathogenic
Select item 590653	NM_031443.4(CCM2):c.289-1G>T	CCM2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 590652	NM_031443.4(CCM2):c.289-1G>A	CCM2	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 2 +1 more	GPathogenic/Likely pathogenic
Select item 3237179	NM_031443.4(CCM2):c.291del (p.Ala98fs)	CCM2 (A119fs +2 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 447027	NM_031443.4(CCM2):c.295del (p.His99fs)	CCM2 (H120fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 590654	NM_031443.4(CCM2):c.298del (p.Gln100fs)	CCM2 (Q42fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1366649	NM_031443.4(CCM2):c.298C>T (p.Gln100Ter)	CCM2 (Q100* +2 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation 2	GPathogenic
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 3139758	NM_031443.4(CCM2):c.304C>G (p.Pro102Ala)	CCM2 (P44A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3368304	NM_031443.4(CCM2):c.305C>T (p.Pro102Leu)	CCM2 (P102L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590657	NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer)	CCM2	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 1357239	NM_031443.4(CCM2):c.317C>T (p.Thr106Ile)	CCM2 (T106I +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2681	NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)	CCM2 (Q107* +2 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation 2 +1 more	GPathogenic
Select item 1729709	NM_031443.4(CCM2):c.327C>T (p.His109=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 650820	NM_031443.4(CCM2):c.328G>A (p.Asp110Asn)	CCM2 (D110N +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 698108	NM_031443.4(CCM2):c.339C>T (p.Leu113=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2 +2 more	GBenign/Likely benign
Select item 1367213	NM_031443.4(CCM2):c.344T>G (p.Leu115Arg)	CCM2 (L115R +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 763878	NM_031443.4(CCM2):c.345G>T (p.Leu115=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 569848	NM_031443.4(CCM2):c.346T>C (p.Ser116Pro)	CCM2 (S116P +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 424340	NM_031443.4(CCM2):c.350C>T (p.Ala117Val)	CCM2 (A117V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 261970	NM_031443.4(CCM2):c.351G>A (p.Ala117=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 857759	NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)	CCM2 (Y118* +2 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 374160	NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)	CCM2 (Y118* +2 more)	Single nucleotide variant (nonsense +1 more)	Cavernous hemangioma	GPathogenic
Select item 1932677	NM_031443.4(CCM2):c.357C>T (p.Asn119=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign

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