ClinVar for MedGen (Select 400438) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26273071.	NM_031443.4(CCM2):c.803+1G>A GRCh37: Chr7:45112383 GRCh38: Chr7:45072784	CCM2		Cerebral cavernous malformation 2	Likely pathogenic (Sep 22, 2023)	criteria provided, single submitter
Select item 25746572.	NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)	CCM2	A123P, A144P, A65P	Cerebral cavernous malformation 2	Pathogenic (Aug 7, 2023)	no assertion criteria provided
Select item 25746563.	NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)	CCM2	L122R, L143R, L64R	Cerebral cavernous malformation 2	Pathogenic (Aug 4, 2023)	no assertion criteria provided
Select item 25746544.	NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)	CCM2	L198P, L140P, L219P	Cerebral cavernous malformation 2	Pathogenic (Aug 4, 2023)	no assertion criteria provided
Select item 25746535.	NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)	CCM2	L113P, L134P, L55P	Cerebral cavernous malformation 2	Pathogenic (Aug 4, 2023)	no assertion criteria provided
Select item 24286336.	NM_031443.4(CCM2):c.609+18C>A GRCh37: Chr7:45108196 GRCh38: Chr7:45068597	CCM2		Cerebral cavernous malformation 2	Benign (Jul 15, 2022)	criteria provided, single submitter
Select item 24269747.	NC_000007.13:g.(?_45077832)_(45115674_?)del GRCh37: Chr7:45077832-45115674	CCM2		Cerebral cavernous malformation 2	Pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 24269738.	NC_000007.13:g.(?_45103497)_(45109580_?)del GRCh37: Chr7:45103497-45109580	CCM2		Cerebral cavernous malformation 2	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 24269729.	NC_000007.13:g.(?_45039933)_(45115674_?)del GRCh37: Chr7:45039933-45115674	CCM2		Cerebral cavernous malformation 2	Pathogenic (Nov 22, 2021)	criteria provided, single submitter
Select item 220040710.	NM_031443.4(CCM2):c.958G>T (p.Ala320Ser) GRCh37: Chr7:45113911 GRCh38: Chr7:45074312	CCM2	A229S, A262S, A303S, A320S, A341S, A361S	Cerebral cavernous malformation 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 219862811.	NM_031443.4(CCM2):c.31-14G>A GRCh37: Chr7:45077838 GRCh38: Chr7:45038239	CCM2		Cerebral cavernous malformation 2	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 219739212.	NM_031443.4(CCM2):c.732G>A (p.Leu244=) GRCh37: Chr7:45109547 GRCh38: Chr7:45069948	CCM2		Cerebral cavernous malformation 2	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 219582413.	NM_031443.4(CCM2):c.783C>T (p.Tyr261=) GRCh37: Chr7:45112362 GRCh38: Chr7:45072763	CCM2		Cerebral cavernous malformation 2	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 217298514.	NM_031443.4(CCM2):c.926A>G (p.Lys309Arg) GRCh37: Chr7:45113879 GRCh38: Chr7:45074280	CCM2	K292R, K330R, K251R, K350R, K218R, K309R	Cerebral cavernous malformation 2	Benign (Nov 12, 2020)	criteria provided, single submitter
Select item 215389815.	NM_031443.4(CCM2):c.1134C>T (p.Arg378=) GRCh37: Chr7:45115455 GRCh38: Chr7:45075856	CCM2		Cerebral cavernous malformation 2	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 213653516.	NM_031443.4(CCM2):c.652del (p.Gln218fs) GRCh37: Chr7:45109466 GRCh38: Chr7:45069867	CCM2	Q218fs, Q239fs, Q160fs	Cerebral cavernous malformation 2	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 213653417.	NM_031443.4(CCM2):c.48A>G (p.Pro16=) GRCh37: Chr7:45077869 GRCh38: Chr7:45038270	CCM2		Cerebral cavernous malformation 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 213517618.	NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn) GRCh37: Chr7:45104131-45104132 GRCh38: Chr7:45064532-45064533	CCM2	V141N, V120N, V62N	Cerebral cavernous malformation 2	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 212640419.	NM_031443.4(CCM2):c.204+3A>C GRCh37: Chr7:45078028 GRCh38: Chr7:45038429	CCM2		Cerebral cavernous malformation 2	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 210962920.	NM_031443.4(CCM2):c.663del (p.Val220_Tyr221insTer) GRCh37: Chr7:45109478 GRCh38: Chr7:45069879	CCM2		Cerebral cavernous malformation 2	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 204645221.	NM_031443.4(CCM2):c.745+19G>A GRCh37: Chr7:45109579 GRCh38: Chr7:45069980	CCM2		Cerebral cavernous malformation 2	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 203718722.	NM_031443.4(CCM2):c.436C>T (p.Arg146Trp) GRCh37: Chr7:45104209 GRCh38: Chr7:45064610	CCM2	R167W, R88W, R146W	Cerebral cavernous malformation 2	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 203648923.	NM_031443.4(CCM2):c.288G>T (p.Lys96Asn) GRCh37: Chr7:45103600 GRCh38: Chr7:45064001	CCM2	K96N, K117N, K38N	Cerebral cavernous malformation 2	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 202148824.	NM_031443.4(CCM2):c.55C>A (p.Arg19=) GRCh37: Chr7:45077876 GRCh38: Chr7:45038277	CCM2		Cerebral cavernous malformation 2	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 202148725.	NM_031443.4(CCM2):c.50_54del (p.Phe17fs) GRCh37: Chr7:45077871-45077875 GRCh38: Chr7:45038272-45038276	CCM2	F17fs, F38fs	Cerebral cavernous malformation 2	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 201949126.	NM_031443.4(CCM2):c.915+2T>C GRCh37: Chr7:45113172 GRCh38: Chr7:45073573	CCM2		Cerebral cavernous malformation 2	Likely pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 201475727.	NM_031443.4(CCM2):c.369dup (p.Trp124fs) GRCh37: Chr7:45104140-45104141 GRCh38: Chr7:45064541-45064542	CCM2	W124fs, W66fs, W145fs	Cerebral cavernous malformation 2	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 199885328.	NM_031443.4(CCM2):c.199dup (p.Val67fs) GRCh37: Chr7:45078018-45078019 GRCh38: Chr7:45038419-45038420	CCM2	V67fs, V88fs	Cerebral cavernous malformation 2	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 199835829.	NM_031443.4(CCM2):c.544C>T (p.Leu182=) GRCh37: Chr7:45108113 GRCh38: Chr7:45068514	CCM2		Cerebral cavernous malformation 2	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 199268330.	NM_031443.4(CCM2):c.804-14A>T GRCh37: Chr7:45113045 GRCh38: Chr7:45073446	CCM2		Cerebral cavernous malformation 2	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 197804631.	NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) GRCh37: Chr7:45077864 GRCh38: Chr7:45038265	CCM2		Cerebral cavernous malformation 2	Pathogenic (Jan 12, 2017)	criteria provided, single submitter
Select item 193267732.	NM_031443.4(CCM2):c.357C>T (p.Asn119=) GRCh37: Chr7:45104130 GRCh38: Chr7:45064531	CCM2		Cerebral cavernous malformation 2	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 192233833.	NM_031443.4(CCM2):c.204+11A>G GRCh37: Chr7:45078036 GRCh38: Chr7:45038437	CCM2		Cerebral cavernous malformation 2	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 191831134.	NM_031443.4(CCM2):c.746-17C>T GRCh37: Chr7:45112308 GRCh38: Chr7:45072709	CCM2		Cerebral cavernous malformation 2	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 191333735.	NM_031443.4(CCM2):c.1164C>T (p.His388=) GRCh37: Chr7:45115485 GRCh38: Chr7:45075886	CCM2		Cerebral cavernous malformation 2	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 189846836.	NM_031443.4(CCM2):c.156C>T (p.Arg52=) GRCh37: Chr7:45077977 GRCh38: Chr7:45038378	CCM2		Cerebral cavernous malformation 2	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 180374137.	NM_031443.4(CCM2):c.93A>C (p.Lys31Asn) GRCh37: Chr7:45077914 GRCh38: Chr7:45038315	CCM2	K31N, K52N	Cerebral cavernous malformation 2	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 178054638.	NM_031443.4(CCM2):c.180C>T (p.Ser60=) GRCh37: Chr7:45078001 GRCh38: Chr7:45038402	CCM2		Cerebral cavernous malformation 2, Inborn genetic diseases	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174791139.	NM_031443.4(CCM2):c.549G>A (p.Ser183=) GRCh37: Chr7:45108118 GRCh38: Chr7:45068519	CCM2		Inborn genetic diseases, Cerebral cavernous malformation 2	Likely benign (Dec 15, 2020)	criteria provided, multiple submitters, no conflicts
Select item 171008040.	NM_031443.4(CCM2):c.916-1G>T GRCh37: Chr7:45113868 GRCh38: Chr7:45074269	CCM2		Cerebral cavernous malformation 2	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 169657541.	NM_031443.4(CCM2):c.883G>A (p.Ala295Thr) GRCh37: Chr7:45113138 GRCh38: Chr7:45073539	CCM2	A204T, A237T, A278T, A295T, A316T, A336T	Cerebral cavernous malformation 2	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter
Select item 165809442.	NM_031443.4(CCM2):c.1299G>A (p.Glu433=) GRCh37: Chr7:45115620 GRCh38: Chr7:45076021	CCM2		Cerebral cavernous malformation 2	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 163971743.	NM_031443.4(CCM2):c.1278G>A (p.Ser426=) GRCh37: Chr7:45115599 GRCh38: Chr7:45076000	CCM2		Cerebral cavernous malformation 2	Likely benign (Oct 17, 2021)	criteria provided, single submitter
Select item 163456244.	NM_031443.4(CCM2):c.1026C>T (p.Tyr342=) GRCh37: Chr7:45113979 GRCh38: Chr7:45074380	CCM2		Cerebral cavernous malformation 2	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 162740445.	NM_031443.4(CCM2):c.1023C>A (p.Leu341=) GRCh37: Chr7:45113976 GRCh38: Chr7:45074377	CCM2		Cerebral cavernous malformation 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 161176646.	NM_031443.4(CCM2):c.472+16G>A GRCh37: Chr7:45104261 GRCh38: Chr7:45064662	CCM2		Cerebral cavernous malformation 2	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 160859247.	NM_031443.4(CCM2):c.803+17C>G GRCh37: Chr7:45112399 GRCh38: Chr7:45072800	CCM2		Cerebral cavernous malformation 2	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 159890248.	NM_031443.4(CCM2):c.915+11G>A GRCh37: Chr7:45113181 GRCh38: Chr7:45073582	CCM2		Cerebral cavernous malformation 2	Benign (Dec 2, 2021)	criteria provided, single submitter
Select item 158688249.	NM_031443.4(CCM2):c.609+18C>T GRCh37: Chr7:45108196 GRCh38: Chr7:45068597	CCM2		Cerebral cavernous malformation 2	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 154685450.	NM_031443.4(CCM2):c.205-18T>G GRCh37: Chr7:45103499 GRCh38: Chr7:45063900	CCM2		Cerebral cavernous malformation 2	Likely benign (May 26, 2021)	criteria provided, single submitter
Select item 154579651.	NM_031443.4(CCM2):c.472+17G>C GRCh37: Chr7:45104262 GRCh38: Chr7:45064663	CCM2		Cerebral cavernous malformation 2	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 151108452.	NM_031443.4(CCM2):c.438G>A (p.Arg146=) GRCh37: Chr7:45104211 GRCh38: Chr7:45064612	CCM2		Cerebral cavernous malformation 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 151077553.	NM_031443.4(CCM2):c.806G>T (p.Cys269Phe) GRCh37: Chr7:45113061 GRCh38: Chr7:45073462	CCM2	C290F, C310F, C178F, C252F, C269F, C211F	Cerebral cavernous malformation 2	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 150118154.	NM_031443.4(CCM2):c.665C>T (p.Thr222Met) GRCh37: Chr7:45109480 GRCh38: Chr7:45069881	CCM2	T222M, T243M, T164M	not provided, Inborn genetic diseases, Cerebral cavernous malformation 2	Conflicting interpretations of pathogenicity (Jul 20, 2023)	criteria provided, conflicting interpretations
Select item 148249355.	NM_031443.4(CCM2):c.1120G>A (p.Val374Met) GRCh37: Chr7:45115441 GRCh38: Chr7:45075842	CCM2	V283M, V415M, V374M, V395M, V316M, V357M	Inborn genetic diseases, Cerebral cavernous malformation 2	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146290556.	NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala) GRCh37: Chr7:45115501 GRCh38: Chr7:45075902	CCM2	T303A, T377A, T415A, T435A, T336A, T394A	Cerebral cavernous malformation 2	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 145814457.	NM_031443.4(CCM2):c.83_87del (p.Arg28fs) GRCh37: Chr7:45077904-45077908 GRCh38: Chr7:45038305-45038309	CCM2	R28fs, R49fs	Cerebral cavernous malformation 2	Pathogenic (May 12, 2021)	criteria provided, single submitter
Select item 145695558.	NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer) GRCh37: Chr7:45115390-45115391 GRCh38: Chr7:45075791-45075792	CCM2		Cerebral cavernous malformation 2	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 143882859.	NM_031443.4(CCM2):c.221C>T (p.Thr74Met) GRCh37: Chr7:45103533 GRCh38: Chr7:45063934	CCM2	T16M, T74M, T95M	Cerebral cavernous malformation 2	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 143484360.	NM_031443.4(CCM2):c.1091A>G (p.His364Arg) GRCh37: Chr7:45115412 GRCh38: Chr7:45075813	CCM2	H385R, H405R, H306R, H347R, H273R, H364R	not provided, Inborn genetic diseases, Cerebral cavernous malformation 2	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 142811461.	NM_031443.4(CCM2):c.989C>T (p.Ser330Phe) GRCh37: Chr7:45113942 GRCh38: Chr7:45074343	CCM2	S371F, S239F, S313F, S330F, S351F, S272F	Cerebral cavernous malformation 2	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 142746162.	NC_000007.13:g.(?_45039933)_(45039982_?)del GRCh37: Chr7:45039933-45039982	CCM2		Cerebral cavernous malformation 2	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 142563763.	NM_031443.4(CCM2):c.744C>T (p.Ser248=) GRCh37: Chr7:45109559 GRCh38: Chr7:45069960	CCM2		Inborn genetic diseases, Cerebral cavernous malformation 2	Conflicting interpretations of pathogenicity (Apr 5, 2023)	criteria provided, conflicting interpretations
Select item 141566764.	NM_031443.4(CCM2):c.528_532del (p.Leu177fs) GRCh37: Chr7:45108097-45108101 GRCh38: Chr7:45068498-45068502	CCM2	L119fs, L177fs, L198fs	Cerebral cavernous malformation 2	Pathogenic (Aug 7, 2021)	criteria provided, single submitter
Select item 140776265.	NM_031443.4(CCM2):c.589A>C (p.Ile197Leu) GRCh37: Chr7:45108158 GRCh38: Chr7:45068559	CCM2	I197L, I218L, I139L	Cerebral cavernous malformation 2	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 140021366.	NM_031443.4(CCM2):c.556G>A (p.Ala186Thr) GRCh37: Chr7:45108125 GRCh38: Chr7:45068526	CCM2	A128T, A186T, A207T	Cerebral cavernous malformation 2	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 140016267.	NM_031443.4(CCM2):c.473-2A>G GRCh37: Chr7:45108040 GRCh38: Chr7:45068441	CCM2		Cerebral cavernous malformation 2	Pathogenic (Jul 16, 2021)	criteria provided, single submitter
Select item 138357368.	NM_031443.4(CCM2):c.93del (p.Ala32fs) GRCh37: Chr7:45077912 GRCh38: Chr7:45038313	CCM2	A32fs, A53fs	Cerebral cavernous malformation 2	Pathogenic (Oct 24, 2020)	criteria provided, single submitter
Select item 137727269.	NM_031443.4(CCM2):c.526G>A (p.Gly176Ser) GRCh37: Chr7:45108095 GRCh38: Chr7:45068496	CCM2	G176S, G197S, G118S	Cerebral cavernous malformation 2	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 136721370.	NM_031443.4(CCM2):c.344T>G (p.Leu115Arg) GRCh37: Chr7:45104117 GRCh38: Chr7:45064518	CCM2	L115R, L136R, L57R	Cerebral cavernous malformation 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 136664971.	NM_031443.4(CCM2):c.298C>T (p.Gln100Ter) GRCh37: Chr7:45104071 GRCh38: Chr7:45064472	CCM2	Q100, Q42, Q121*	Cerebral cavernous malformation 2	Pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 136075172.	NM_031443.4(CCM2):c.419C>A (p.Ala140Asp) GRCh37: Chr7:45104192 GRCh38: Chr7:45064593	CCM2	A82D, A161D, A140D	Cerebral cavernous malformation 2	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 135950273.	NM_031443.4(CCM2):c.617C>A (p.Ala206Glu) GRCh37: Chr7:45109432 GRCh38: Chr7:45069833	CCM2	A227E, A148E, A206E	Cerebral cavernous malformation 2	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 135723974.	NM_031443.4(CCM2):c.317C>T (p.Thr106Ile) GRCh37: Chr7:45104090 GRCh38: Chr7:45064491	CCM2	T106I, T127I, T48I	Cerebral cavernous malformation 2	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 135528575.	NC_000007.13:g.(?_45109405)_(45109580_?)del GRCh37: Chr7:45109405-45109580	CCM2		Cerebral cavernous malformation 2	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 134725276.	NM_031443.4(CCM2):c.679G>A (p.Asp227Asn) GRCh37: Chr7:45109494 GRCh38: Chr7:45069895	CCM2	D227N, D169N, D248N	Cerebral cavernous malformation 2	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 133053277.	NM_031443.4(CCM2):c.305dup (p.His104fs) GRCh37: Chr7:45104076-45104077 GRCh38: Chr7:45064477-45064478	CCM2	H104fs, H125fs, H46fs	Cerebral cavernous malformation 2	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 107624178.	NC_000007.13:g.(?_45067284)_(45115676_?)del GRCh37: Chr7:45067284-45115676	CCM2		Cerebral cavernous malformation 2	Pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 107602879.	NM_031443.4(CCM2):c.151G>T (p.Glu51Ter) GRCh37: Chr7:45077972 GRCh38: Chr7:45038373	CCM2	E51, E72	Cerebral cavernous malformation 2	Pathogenic (Oct 14, 2020)	criteria provided, single submitter
Select item 107081580.	NM_031443.4(CCM2):c.228dup (p.Pro77fs) GRCh37: Chr7:45103539-45103540 GRCh38: Chr7:45063940-45063941	CCM2	P19fs, P77fs, P98fs	Cerebral cavernous malformation 2	Pathogenic (Apr 1, 2021)	criteria provided, single submitter
Select item 105480181.	NM_031443.4(CCM2):c.160G>A (p.Glu54Lys) GRCh37: Chr7:45077981 GRCh38: Chr7:45038382	CCM2	E54K, E75K	Inborn genetic diseases, Cerebral cavernous malformation 2	Conflicting interpretations of pathogenicity (Apr 24, 2023)	criteria provided, conflicting interpretations
Select item 103411082.	NM_031443.4(CCM2):c.830G>A (p.Gly277Asp) GRCh37: Chr7:45113085 GRCh38: Chr7:45073486	CCM2	G260D, G186D, G219D, G277D, G298D, G318D	Cerebral cavernous malformation 2	Uncertain significance (Aug 14, 2018)	criteria provided, single submitter
Select item 103094483.	NM_031443.4(CCM2):c.643C>T (p.Gln215Ter) GRCh37: Chr7:45109458 GRCh38: Chr7:45069859	CCM2	Q157, Q236, Q215*	Cerebral cavernous malformation 2	Pathogenic (Oct 25, 2019)	criteria provided, single submitter
Select item 97486884.	NM_031443.4(CCM2):c.472+1G>C GRCh37: Chr7:45104246 GRCh38: Chr7:45064647	CCM2		Cerebral cavernous malformation 2	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96340685.	NM_031443.4(CCM2):c.745+2T>C GRCh37: Chr7:45109562 GRCh38: Chr7:45069963	CCM2		Cerebral cavernous malformation 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 95231286.	NM_031443.4(CCM2):c.130_131del (p.Thr44fs) GRCh37: Chr7:45077948-45077949 GRCh38: Chr7:45038349-45038350	CCM2	T44fs, T65fs	Cerebral cavernous malformation 2	Pathogenic (Jul 23, 2019)	criteria provided, single submitter
Select item 94978287.	NM_031443.4(CCM2):c.193_195del (p.Lys65del) GRCh37: Chr7:45078012-45078014 GRCh38: Chr7:45038413-45038415	CCM2	K65del, K86del	Cerebral cavernous malformation 2	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 87343388.	NM_031443.4(CCM2):c.7G>T (p.Glu3Ter) GRCh37: Chr7:45039939 GRCh38: Chr7:45000340	CCM2, LOC129998395	E3*	Cerebral cavernous malformation 2	Likely pathogenic (Oct 9, 2019)	criteria provided, single submitter
Select item 86297189.	NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) GRCh37: Chr7:45113923 GRCh38: Chr7:45074324	CCM2	E365, E345, E233, E266, E307, E324	Cerebral cavernous malformation 2	Pathogenic (Dec 5, 2019)	criteria provided, single submitter
Select item 85775990.	NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter) GRCh37: Chr7:45104127 GRCh38: Chr7:45064528	CCM2	Y118, Y60, Y139*	Cerebral cavernous malformation 2	Pathogenic (Nov 19, 2019)	criteria provided, single submitter
Select item 84932991.	NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) GRCh37: Chr7:45115399 GRCh38: Chr7:45075800	CCM2	K343, K269, K360, K302, K381, K401	CCM2-related condition, Cerebral cavernous malformation 2	Pathogenic/Likely pathogenic (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84888992.	NM_031443.4(CCM2):c.698T>C (p.Ile233Thr) GRCh37: Chr7:45109513 GRCh38: Chr7:45069914	CCM2	I175T, I233T, I254T	Cerebral cavernous malformation 2	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 83813893.	NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) GRCh37: Chr7:45113094 GRCh38: Chr7:45073495	CCM2	S222, S321, S263, S189, S301, S280	not provided, Cerebral cavernous malformation 2	Pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83289694.	NC_000007.14:g.(?_45038233)_(45038446_?)del GRCh37: Chr7:45077832-45078045	CCM2		Cerebral cavernous malformation 2	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 81094095.	NM_031443.4(CCM2):c.48A>T (p.Pro16=) GRCh37: Chr7:45077869 GRCh38: Chr7:45038270	CCM2		Cerebral cavernous malformation 2	Likely benign (Dec 3, 2019)	criteria provided, multiple submitters, no conflicts
Select item 76708396.	NM_031443.4(CCM2):c.1055-6C>T GRCh37: Chr7:45115370 GRCh38: Chr7:45075771	CCM2		Cerebral cavernous malformation 2	Benign (Oct 14, 2022)	criteria provided, single submitter
Select item 76559797.	NM_031443.4(CCM2):c.777G>A (p.Glu259=) GRCh37: Chr7:45112356 GRCh38: Chr7:45072757	CCM2		Cerebral cavernous malformation 2	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 73308398.	NM_031443.4(CCM2):c.222G>A (p.Thr74=) GRCh37: Chr7:45103534 GRCh38: Chr7:45063935	CCM2		Inborn genetic diseases, Cerebral cavernous malformation 2	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72977799.	NM_031443.4(CCM2):c.916-3C>T GRCh37: Chr7:45113866 GRCh38: Chr7:45074267	CCM2		Cerebral cavernous malformation 2	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 717770100.	NM_031443.4(CCM2):c.636G>C (p.Leu212=) GRCh37: Chr7:45109451 GRCh38: Chr7:45069852	CCM2		Inborn genetic diseases, Cerebral cavernous malformation 2	Benign/Likely benign (Jun 19, 2023)	criteria provided, multiple submitters, no conflicts

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