"GeneDx"[submitter] AND "CCM2"[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 1266041	NC_000007.14:g.45000161_45000162insGGCCTGCTCT	CCM2, LOC129998395	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 1229705	NM_031443.4(CCM2):c.-37G>C	CCM2, LOC129998395	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 421825	NM_031443.4(CCM2):c.-27_-19dup	CCM2, LOC129998395	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 1305187	NM_031443.4(CCM2):c.30G>C (p.Lys10Asn)	CCM2, LOC129998395 (K10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 662968	NM_031443.4(CCM2):c.30G>A (p.Lys10=)	CCM2, LOC129998395	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 590655	NM_031443.4(CCM2):c.30+1G>A	CCM2, LOC129998395	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 2 +1 more	GPathogenic
Select item 193463	NM_031443.4(CCM2):c.30+5_30+6delinsTT	CCM2, LOC129998395	Indel (intron variant)	Cerebral cavernous malformation 2 +1 more	GPathogenic/Likely pathogenic
Select item 517106	NM_031443.4(CCM2):c.30+6C>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1224029	NM_031443.4(CCM2):c.30+94_30+95insC	CCM2, LOC129998395	Insertion (intron variant)	not provided	GBenign
Select item 1291962	NM_031443.4(CCM2):c.30+101G>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222839	NM_031443.4(CCM2):c.30+101_30+102insT	CCM2, LOC129998395	Insertion (intron variant)	not provided	GBenign
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 447028	NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)	CCM2 (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	CCM2-related disorder +2 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 specified +2 more	GBenign
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 429309	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2 (E66fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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 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 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 1277729	NM_031443.4(CCM2):c.288+171C>T	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 +1 more	GBenign
Select item 3363988	NM_031443.4(CCM2):c.372G>C (p.Trp124Cys)	CCM2 (W124C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3372231	NM_031443.4(CCM2):c.411_413dup (p.Asp138_Ile139insAsp)	CCM2	Duplication (non-coding transcript variant)	not provided	GUncertain significance
Select item 451892	NM_031443.4(CCM2):c.468G>C (p.Lys156Asn)	CCM2 (K156N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1272251	NM_031443.4(CCM2):c.472+127C>T	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294594	NM_031443.4(CCM2):c.473-174A>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212756	NM_031443.4(CCM2):c.486del (p.Ile163fs)	CCM2 (I105fs +2 more)	Deletion (intron variant +2 more)	not provided	GLikely pathogenic
Select item 3364519	NM_031443.4(CCM2):c.532A>G (p.Ser178Gly)	CCM2 (S120G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1693392	NM_031443.4(CCM2):c.569dup (p.Glu191fs)	CCM2 (E133fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1173046	NM_031443.4(CCM2):c.586_589del (p.Val196fs)	CCM2 (V138fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 590662	NM_031443.4(CCM2):c.609G>A (p.Lys203=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2 +1 more	GPathogenic/Likely pathogenic
Select item 421876	NM_031443.4(CCM2):c.617C>T (p.Ala206Val)	CCM2 (A206V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370770	NM_031443.4(CCM2):c.622G>T (p.Glu208Ter)	CCM2 (E150* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2735021	NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)	CCM2 (Q239* +2 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2 +1 more	GPathogenic
Select item 1501181	NM_031443.4(CCM2):c.665C>T (p.Thr222Met)	CCM2 (T222M +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2 +2 more	GConflicting classifications of pathogenicity
Select item 429700	NM_031443.4(CCM2):c.683_686del (p.Phe228fs)	CCM2 (F170fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3378265	NM_031443.4(CCM2):c.689A>T (p.Asp230Val)	CCM2 (D172V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1296145	NM_031443.4(CCM2):c.746-255T>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291112	NM_031443.4(CCM2):c.803+89C>A	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233625	NM_031443.4(CCM2):c.803+330A>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289416	NM_031443.4(CCM2):c.804-286T>C	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226665	NM_031443.4(CCM2):c.804-157T>C	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510817	NM_031443.4(CCM2):c.804-12del	CCM2	Deletion (intron variant)	Cerebral cavernous malformation 2 +1 more	GBenign/Likely benign
Select item 2573788	NM_031443.4(CCM2):c.811C>A (p.Pro271Thr)	CCM2 (P180T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 838138	NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)	CCM2 (S222* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 3342585	NM_031443.4(CCM2):c.841C>T (p.Pro281Ser)	CCM2 (P190S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412894	NM_031443.4(CCM2):c.852G>C (p.Lys284Asn)	CCM2 (K193N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 provided +1 more	GBenign
Select item 1291118	NM_031443.4(CCM2):c.915+119C>T	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258858	NM_031443.4(CCM2):c.915+173C>T	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421877	NM_031443.4(CCM2):c.946del (p.Gln316fs)	CCM2 (Q316fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2503354	NM_031443.4(CCM2):c.976C>T (p.Arg326Cys)	CCM2 (R235C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1312064	NM_031443.4(CCM2):c.1054+5G>A	CCM2, LOC132090779	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261964	NM_031443.4(CCM2):c.1054+12C>T	CCM2, LOC132090779	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1252187	NM_031443.4(CCM2):c.1054+82C>T	CCM2, LOC132090779	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261706	NM_031443.4(CCM2):c.1054+217A>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296126	NM_031443.4(CCM2):c.1054+219C>T	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1434843	NM_031443.4(CCM2):c.1091A>G (p.His364Arg)	CCM2 (H385R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452847	NM_031443.4(CCM2):c.1112C>T (p.Thr371Ile)	CCM2 (T371I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663568	NM_031443.4(CCM2):c.1193C>A (p.Ser398Tyr)	CCM2 (S307Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 393024	NM_031443.4(CCM2):c.1246T>G (p.Ser416Ala)	CCM2 (S416A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2242822	NM_031443.4(CCM2):c.1268G>C (p.Arg423Pro)	CCM2 (R332P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2503149	NM_031443.4(CCM2):c.1272G>A (p.Met424Ile)	CCM2 (M333I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810714	NM_031443.4(CCM2):c.1333T>G (p.Ter445Gly)	CCM2	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 590644	NM_031443.4(CCM2):c.*6A>G	CCM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 261963	NM_031443.4(CCM2):c.*14G>T	CCM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 420742	NM_031443.4(CCM2):c.*20dup	CCM2	Duplication (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1296117	NM_031443.4(CCM2):c.*117T>C	CCM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253618	GRCh37/hg19 7p13(chr7:45065944-45115876)x1	CCM2	Copy number loss	See cases	GPathogenic
Select item 3359357	NM_031443.4(CCM2):c.1019A>G (p.Gln340Arg)	CCM2 (Q249R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574653	NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)	CCM2 (L113P +2 more)	Single nucleotide variant	not provided	GPathogenic

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Items: 83