ClinVar for Gene (Select 83605) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3245759	NC_000007.13:g.(?_45103497)_(45115674_?)del	CCM2	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 3139761	NM_031443.4(CCM2):c.977G>A (p.Arg326His)	CCM2 (R268H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139760	NM_031443.4(CCM2):c.676A>G (p.Ile226Val)	CCM2 (I247V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3139759	NM_031443.4(CCM2):c.388A>G (p.Ile130Val)	CCM2 (I151V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3139757	NM_031443.4(CCM2):c.1210A>G (p.Arg404Gly)	CCM2 (R425G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139756	NM_031443.4(CCM2):c.1169G>A (p.Arg390Gln)	CCM2 (R390Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139755	NM_031443.4(CCM2):c.1165C>T (p.Arg389Trp)	CCM2 (R430W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068778	NM_031443.4(CCM2):c.1235G>A (p.Arg412Gln)	CCM2 (R321Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	ADCY1, CCDC201 +27 more	Indel	Cerebral cavernous malformation 2	GPathogenic
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 3058171	NM_031443.4(CCM2):c.31-10449G>T	CCM2	Single nucleotide variant (intron variant)	CCM2-related disorder	GLikely benign
Select item 3057999	NM_031443.4(CCM2):c.418G>A (p.Ala140Thr)	CCM2 (A140T +2 more)	Single nucleotide variant (missense variant +1 more)	CCM2-related disorder	GUncertain significance
Select item 3054951	NM_031443.4(CCM2):c.915+10C>T	CCM2	Single nucleotide variant (intron variant)	CCM2-related disorder	GLikely benign
Select item 3048186	NM_031443.4(CCM2):c.*19dup	CCM2	Duplication (3 prime UTR variant +1 more)	CCM2-related disorder	GLikely benign
Select item 3026685	NM_031443.4(CCM2):c.1087C>T (p.Gln363Ter)	CCM2 (Q272* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684162	Single allele	CCM2	Deletion	not provided	GPathogenic
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 2657439	NM_031443.4(CCM2):c.31-10496C>G	CCM2 (P18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636973	NM_031443.4(CCM2):c.447del (p.Ala150fs)	CCM2 (A150fs +2 more)	Deletion (frameshift variant +1 more)	CCM2-related disorder	GLikely pathogenic
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 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 2576037	NM_031443.4(CCM2):c.204+8G>A	CCM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 2551565	NM_031443.4(CCM2):c.746A>G (p.Asp249Gly)	CCM2 (D270G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2538300	NM_031443.4(CCM2):c.1063C>G (p.Pro355Ala)	CCM2 (P376A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521263	NM_031443.4(CCM2):c.920G>A (p.Arg307His)	CCM2 (R249H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 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 2451701	NM_031443.4(CCM2):c.969C>T (p.His323=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2451693	NM_031443.4(CCM2):c.1245C>T (p.Pro415=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2449559	NM_031443.4(CCM2):c.542C>G (p.Ser181Cys)	CCM2 (S181C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2449558	NM_031443.4(CCM2):c.1167G>A (p.Arg389=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2449556	NM_031443.4(CCM2):c.894G>A (p.Leu298=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 2410772	NM_031443.4(CCM2):c.512C>T (p.Ala171Val)	CCM2 (A113V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2397793	NM_031443.4(CCM2):c.1322A>G (p.Gln441Arg)	CCM2 (Q424R +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2 +1 more	GUncertain significance
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 2294928	NM_031443.4(CCM2):c.630C>G (p.Cys210Trp)	CCM2 (C152W +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285380	NM_031443.4(CCM2):c.437G>A (p.Arg146Gln)	CCM2 (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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)	Cerebral cavernous malformation 2 +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

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