ClinVar for MedGen (Select 400438) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	LOC129998399, LOC129998400 +27 more	Indel	Cerebral cavernous malformation 2	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 2990477	NM_031443.4(CCM2):c.1201A>G (p.Asn401Asp)	CCM2 (N310D +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2978460	NM_031443.4(CCM2):c.636G>T (p.Leu212=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 2959595	NM_031443.4(CCM2):c.472+13A>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 2913948	NM_031443.4(CCM2):c.1115T>C (p.Ile372Thr)	CCM2 (I314T +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
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 2893334	NM_031443.4(CCM2):c.559G>T (p.Val187Phe)	CCM2 (V129F +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2872762	NM_031443.4(CCM2):c.915+16A>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 2869756	NM_031443.4(CCM2):c.885C>T (p.Ala295=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
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 2854742	NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)	CCM2 (Q109* +2 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2851921	NM_031443.4(CCM2):c.424G>A (p.Val142Ile)	CCM2 (V84I +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2833725	NM_031443.4(CCM2):c.677T>G (p.Ile226Ser)	CCM2 (I247S +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2790874	NM_031443.4(CCM2):c.766G>A (p.Asp256Asn)	CCM2 (D198N +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2765717	NM_031443.4(CCM2):c.916-7C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 2763965	NM_031443.4(CCM2):c.434T>G (p.Val145Gly)	CCM2 (V166G +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2759819	NM_031443.4(CCM2):c.30+5G>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2749503	NM_031443.4(CCM2):c.992T>C (p.Ile331Thr)	CCM2 (I273T +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2747032	NM_031443.4(CCM2):c.631del (p.Cys211fs)	CCM2 (C232fs +2 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2742291	NM_031443.4(CCM2):c.487A>G (p.Ile163Val)	CCM2 (I105V +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
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 2735021	NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)	CCM2 (Q239* +2 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2727028	NM_031443.4(CCM2):c.1252G>A (p.Gly418Arg)	CCM2 (G360R +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
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 2701828	NM_031443.4(CCM2):c.499_500del (p.Gln167fs)	CCM2 (Q167fs +2 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2700207	NM_031443.4(CCM2):c.467del (p.Lys156fs)	CCM2 (K177fs +2 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2627307	NM_031443.4(CCM2):c.803+1G>A	CCM2	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 2574657	NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)	CCM2 (A123P +2 more)	Single nucleotide variant	Cerebral cavernous malformation 2	GPathogenic
Select item 2574656	NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)	CCM2 (L122R +2 more)	Single nucleotide variant	Cerebral cavernous malformation 2	GPathogenic
Select item 2574654	NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)	CCM2 (L198P +2 more)	Single nucleotide variant	Cerebral cavernous malformation 2	GPathogenic
Select item 2574653	NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)	CCM2 (L113P +2 more)	Single nucleotide variant	Cerebral cavernous malformation 2	GPathogenic
Select item 2428633	NM_031443.4(CCM2):c.609+18C>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GBenign
Select item 2426974	NC_000007.13:g.(?_45077832)_(45115674_?)del	CCM2	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 2426973	NC_000007.13:g.(?_45103497)_(45109580_?)del	CCM2	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 2426972	NC_000007.13:g.(?_45039933)_(45115674_?)del	CCM2	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 2200407	NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)	CCM2 (A229S +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
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 2197392	NM_031443.4(CCM2):c.732G>A (p.Leu244=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 2195824	NM_031443.4(CCM2):c.783C>T (p.Tyr261=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 2172985	NM_031443.4(CCM2):c.926A>G (p.Lys309Arg)	CCM2 (K292R +5 more)	Single nucleotide variant (missense variant +1 more)	CCM2-related condition +1 more	GBenign/Likely benign
Select item 2153898	NM_031443.4(CCM2):c.1134C>T (p.Arg378=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 2136535	NM_031443.4(CCM2):c.652del (p.Gln218fs)	CCM2 (Q218fs +2 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
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 2135176	NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn)	CCM2 (V141N +2 more)	Indel (non-coding transcript variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
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 2109629	NM_031443.4(CCM2):c.663del (p.Val220_Tyr221insTer)	CCM2	Deletion (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2046452	NM_031443.4(CCM2):c.745+19G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 2037187	NM_031443.4(CCM2):c.436C>T (p.Arg146Trp)	CCM2 (R167W +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	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 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 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 2019491	NM_031443.4(CCM2):c.915+2T>C	CCM2	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 2014757	NM_031443.4(CCM2):c.369dup (p.Trp124fs)	CCM2 (W124fs +2 more)	Duplication (frameshift variant +1 more)	Cerebral cavernous malformation 2	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 1998358	NM_031443.4(CCM2):c.544C>T (p.Leu182=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 1992683	NM_031443.4(CCM2):c.804-14A>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 1978046	NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Indel (nonsense +2 more)	Cerebral cavernous malformation 2	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
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 1918311	NM_031443.4(CCM2):c.746-17C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2 +1 more	GLikely benign
Select item 1913337	NM_031443.4(CCM2):c.1164C>T (p.His388=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 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 1755792	NM_031443.4(CCM2):c.684T>C (p.Phe228=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1747911	NM_031443.4(CCM2):c.549G>A (p.Ser183=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2 +1 more	GLikely benign
Select item 1710080	NM_031443.4(CCM2):c.916-1G>T	CCM2	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 1696575	NM_031443.4(CCM2):c.883G>A (p.Ala295Thr)	CCM2 (A204T +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 1658094	NM_031443.4(CCM2):c.1299G>A (p.Glu433=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 1639717	NM_031443.4(CCM2):c.1278G>A (p.Ser426=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 1634562	NM_031443.4(CCM2):c.1026C>T (p.Tyr342=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 1627404	NM_031443.4(CCM2):c.1023C>A (p.Leu341=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 1611766	NM_031443.4(CCM2):c.472+16G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 1608592	NM_031443.4(CCM2):c.803+17C>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GBenign
Select item 1598902	NM_031443.4(CCM2):c.915+11G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GBenign
Select item 1586882	NM_031443.4(CCM2):c.609+18C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
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 1545796	NM_031443.4(CCM2):c.472+17G>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 1511084	NM_031443.4(CCM2):c.438G>A (p.Arg146=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 1510775	NM_031443.4(CCM2):c.806G>T (p.Cys269Phe)	CCM2 (C290F +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 1501181	NM_031443.4(CCM2):c.665C>T (p.Thr222Met)	CCM2 (T222M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1482493	NM_031443.4(CCM2):c.1120G>A (p.Val374Met)	CCM2 (V283M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1462905	NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala)	CCM2 (T303A +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
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 1456955	NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer)	CCM2	Duplication (nonsense +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 1434843	NM_031443.4(CCM2):c.1091A>G (p.His364Arg)	CCM2 (H385R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1428114	NM_031443.4(CCM2):c.989C>T (p.Ser330Phe)	CCM2 (S371F +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 1427461	NC_000007.13:g.(?_45039933)_(45039982_?)del	CCM2	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 1425637	NM_031443.4(CCM2):c.744C>T (p.Ser248=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2 +1 more	GConflicting classifications of pathogenicity
Select item 1415667	NM_031443.4(CCM2):c.528_532del (p.Leu177fs)	CCM2 (L119fs +2 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1407762	NM_031443.4(CCM2):c.589A>C (p.Ile197Leu)	CCM2 (I197L +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 1400213	NM_031443.4(CCM2):c.556G>A (p.Ala186Thr)	CCM2 (A128T +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 1400162	NM_031443.4(CCM2):c.473-2A>G	CCM2	Single nucleotide variant (splice acceptor variant +1 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 1377272	NM_031443.4(CCM2):c.526G>A (p.Gly176Ser)	CCM2 (G176S +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
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 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 1360751	NM_031443.4(CCM2):c.419C>A (p.Ala140Asp)	CCM2 (A82D +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance

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