"PreventionGenetics, part of Exact Sciences"[submitter] AND "CC2D2A"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031321	NM_001378615.1(CC2D2A):c.123+440C>T	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3049315	NM_001378615.1(CC2D2A):c.123+528T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 93531	NM_001378615.1(CC2D2A):c.124-6C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 126229	NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)	CC2D2A (R88*)	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +6 more	GBenign
Select item 596026	NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)	CC2D2A (T117A)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 126233	NM_001378615.1(CC2D2A):c.247+26A>G	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3035384	NM_001378615.1(CC2D2A):c.247+410G>T	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3048086	NM_001378615.1(CC2D2A):c.247+419C>T	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3034513	NM_001378615.1(CC2D2A):c.247+436C>T	CC2D2A (T105I)	Single nucleotide variant (missense variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3030701	NM_001378615.1(CC2D2A):c.247+452C>A	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 2654682	NM_001378615.1(CC2D2A):c.247+452C>T	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder +1 more	GLikely benign
Select item 3051059	NM_001378615.1(CC2D2A):c.332C>A (p.Ala111Glu)	CC2D2A (A111E +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 445521	NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)	CC2D2A (A111V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257388	NM_001378615.1(CC2D2A):c.336+32T>C	CC2D2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 198452	NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 198763	NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)	CC2D2A (K167N +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3053332	NM_001378615.1(CC2D2A):c.540+9T>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 126246	NM_001378615.1(CC2D2A):c.541-25G>T	CC2D2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 136678	NM_001378615.1(CC2D2A):c.541-20T>G	CC2D2A	Single nucleotide variant (genic downstream transcript variant +1 more)	Familial aplasia of the vermis +2 more	GBenign/Likely benign
Select item 1472471	NM_001378615.1(CC2D2A):c.541-9T>A	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3061274	NM_001378615.1(CC2D2A):c.541-7T>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 1593248	NM_001378615.1(CC2D2A):c.541-6C>T	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 347754	NM_001378615.1(CC2D2A):c.541-5G>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 215779	NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 199055	NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 500772	NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)	CC2D2A (G205R +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 809621	NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)	CC2D2A (A216V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 56316	NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)	CC2D2A (E229del +1 more)	Microsatellite (inframe_deletion)	Familial aplasia of the vermis +5 more	GBenign/Likely benign
Select item 3061384	NM_001378615.1(CC2D2A):c.686A>G (p.Glu229Gly)	CC2D2A (E180G +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3033926	NM_001378615.1(CC2D2A):c.717+4T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3034339	NM_001378615.1(CC2D2A):c.717+5T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3034226	NM_001378615.1(CC2D2A):c.717+6T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3033913	NM_001378615.1(CC2D2A):c.717+9T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 257393	NM_001378615.1(CC2D2A):c.717+11T>C	CC2D2A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 257394	NM_001378615.1(CC2D2A):c.717+12C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 126247	NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)	CC2D2A (E241K +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 597873	NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)	CC2D2A (E251K +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 257395	NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)	CC2D2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 126248	NM_001378615.1(CC2D2A):c.777C>T (p.His259=)	CC2D2A	Single nucleotide variant (genic downstream transcript variant +1 more)	Meckel-Gruber syndrome +4 more	GBenign
Select item 1561597	NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 506421	NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)	CC2D2A (F308L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +6 more	GConflicting classifications of pathogenicity
Select item 257383	NM_001378615.1(CC2D2A):c.1017+7G>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2933768	NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 126227	NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)	CC2D2A (E376A +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GBenign
Select item 257384	NM_001378615.1(CC2D2A):c.1150-15T>C	CC2D2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 499831	NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)	CC2D2A (V388I +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3029675	NM_001378615.1(CC2D2A):c.1359+4C>A	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3060096	NM_001378615.1(CC2D2A):c.1359+10A>T	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 257385	NM_001378615.1(CC2D2A):c.1360-29C>G	CC2D2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1091405	NM_001378615.1(CC2D2A):c.1422C>T (p.Leu474=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2629924	NM_001378615.1(CC2D2A):c.1426dup (p.Thr476fs)	CC2D2A (T427fs +1 more)	Duplication (frameshift variant)	CC2D2A-related disorder	GLikely pathogenic
Select item 597087	NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 705305	NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 126228	NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)	CC2D2A (K507E +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 497634	NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2165571	NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)	CC2D2A (T515K +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 291191	NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)	CC2D2A (T564M +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 900132	NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)	CC2D2A (S577L +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +5 more	GConflicting classifications of pathogenicity
Select item 2149946	NM_001378615.1(CC2D2A):c.1764+10C>T	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 126230	NM_001378615.1(CC2D2A):c.1764+45T>G	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 126231	NM_001378615.1(CC2D2A):c.1765-24A>G	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 969922	NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)	CC2D2A (R540K +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2163402	NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 347760	NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)	CC2D2A (R627Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 347762	NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 288559	NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 210608	NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)	CC2D2A (V660I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 194716	NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)	CC2D2A (V660L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 93532	NM_001378615.1(CC2D2A):c.2003+19C>T	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3046242	NM_001378615.1(CC2D2A):c.2004-10C>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 194820	NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)	CC2D2A (R680H +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 194819	NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)	CC2D2A (L684I +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 595980	NM_001378615.1(CC2D2A):c.2053A>G (p.Lys685Glu)	CC2D2A (K685E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 257386	NM_001378615.1(CC2D2A):c.2083A>C (p.Arg695=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 656554	NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)	CC2D2A (V697A +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 3031114	NM_001378615.1(CC2D2A):c.2108C>G (p.Ala703Gly)	CC2D2A (A654G +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 290432	NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)	CC2D2A (R706Q +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 194817	NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 194818	NM_001378615.1(CC2D2A):c.2181+7A>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder +8 more	GBenign/Likely benign
Select item 126232	NM_001378615.1(CC2D2A):c.2182-24C>T	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 596991	NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA	CC2D2A	Indel (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 722460	NM_001378615.1(CC2D2A):c.2182-8G>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1650920	NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 1159831	NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 238276	NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	CC2D2A (G776R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 1574055	NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 2935231	NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 166803	NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +4 more	GBenign/Likely benign
Select item 857160	NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)	CC2D2A (G777R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 1347196	NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder +2 more	GLikely benign
Select item 257387	NM_001378615.1(CC2D2A):c.2595C>T (p.Pro865=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1621246	NM_001378615.1(CC2D2A):c.2604C>T (p.Ala868=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 210609	NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	CC2D2A (Q895* +1 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 498038	NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)	CC2D2A (R925Q +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 126234	NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)	CC2D2A (R935Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 281114	NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)	CC2D2A (M938T +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 126235	NM_001378615.1(CC2D2A):c.2830-38G>T	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 745	NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)	CC2D2A (R950* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +5 more	GPathogenic
Select item 900659	NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)	CC2D2A (I912T +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +4 more	GBenign/Likely benign
Select item 2187853	NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign

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