ClinVar for MedGen (Select 893512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358161	NM_001378615.1(CC2D2A):c.247+409C>T	CC2D2A (T96M)	Single nucleotide variant (missense variant +2 more)	CC2D2A-related disorder	GUncertain significance
Select item 3352488	NM_001378615.1(CC2D2A):c.123+423A>G	CC2D2A (T44A)	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GUncertain significance
Select item 3350537	NM_001378615.1(CC2D2A):c.4437+10T>A	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3348017	NM_001378615.1(CC2D2A):c.4780G>C (p.Ala1594Pro)	CC2D2A (A1486P +2 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3345993	NM_001378615.1(CC2D2A):c.4065+1G>T	CC2D2A	Single nucleotide variant (splice donor variant)	CC2D2A-related disorder	GLikely pathogenic
Select item 3345875	NM_001378615.1(CC2D2A):c.2036A>T (p.Lys679Met)	CC2D2A (K630M +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3345759	NM_001378615.1(CC2D2A):c.1272G>A (p.Glu424=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder	GLikely benign
Select item 3344033	NM_001378615.1(CC2D2A):c.123+435C>T	CC2D2A (R48*)	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GUncertain significance
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 3061368	NM_001378615.1(CC2D2A):c.3472G>A (p.Glu1158Lys)	CC2D2A (E1109K +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3061274	NM_001378615.1(CC2D2A):c.541-7T>C	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 3053332	NM_001378615.1(CC2D2A):c.540+9T>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	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 3049315	NM_001378615.1(CC2D2A):c.123+528T>G	CC2D2A	Single nucleotide variant (intron variant)	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 3046242	NM_001378615.1(CC2D2A):c.2004-10C>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
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 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 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 3033926	NM_001378615.1(CC2D2A):c.717+4T>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 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 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 3030701	NM_001378615.1(CC2D2A):c.247+452C>A	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3029675	NM_001378615.1(CC2D2A):c.1359+4C>A	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 2950561	NM_001378615.1(CC2D2A):c.523del (p.Ile175fs)	CC2D2A (I175fs +1 more)	Deletion (frameshift variant)	CC2D2A-related disorder +2 more	GPathogenic
Select item 2942984	NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2939411	NM_001378615.1(CC2D2A):c.2043dup (p.Val682fs)	CC2D2A (V633fs +1 more)	Duplication (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2935231	NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2933768	NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2931200	NM_001378615.1(CC2D2A):c.3810T>A (p.Thr1270=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2654682	NM_001378615.1(CC2D2A):c.247+452C>T	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2637079	NM_001378615.1(CC2D2A):c.3958A>G (p.Asn1320Asp)	CC2D2A (N1212D +2 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 2633816	NM_001378615.1(CC2D2A):c.3932A>G (p.Gln1311Arg)	CC2D2A (Q1203R +2 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 2631935	NM_001378615.1(CC2D2A):c.3764G>A (p.Arg1255Gln)	CC2D2A (R1206Q +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
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 2195843	NM_001378615.1(CC2D2A):c.4675-19A>G	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2187853	NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2186972	NM_001378615.1(CC2D2A):c.1360-9C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2178075	NM_001378615.1(CC2D2A):c.2923-10C>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
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 +1 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 +1 more	GLikely benign
Select item 2149946	NM_001378615.1(CC2D2A):c.1764+10C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2133544	NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1989968	NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn)	CC2D2A (K1394N +2 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1989278	NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1965024	NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)	CC2D2A (V1105I +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1933540	NM_001378615.1(CC2D2A):c.3015-5A>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1650920	NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1637738	NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 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 +1 more	GLikely benign
Select item 1594156	NM_001378615.1(CC2D2A):c.3772-4G>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1593248	NM_001378615.1(CC2D2A):c.541-6C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1574055	NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1561597	NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1472471	NM_001378615.1(CC2D2A):c.541-9T>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1347196	NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1328011	NM_001378615.1(CC2D2A):c.4675-15G>A	CC2D2A	Single nucleotide variant (intron variant)	COACH syndrome 2 +5 more	GLikely benign
Select item 1193803	NM_001378615.1(CC2D2A):c.4438-31T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1159831	NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1154910	NM_001378615.1(CC2D2A):c.1728G>A (p.Thr576=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1153133	NM_001378615.1(CC2D2A):c.3381A>G (p.Glu1127=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1127818	NM_001378615.1(CC2D2A):c.4818T>C (p.Val1606=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1119647	NM_001378615.1(CC2D2A):c.3249G>A (p.Thr1083=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1103149	NM_001378615.1(CC2D2A):c.4452T>A (p.Ile1484=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1099974	NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1095607	NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1092667	NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1091405	NM_001378615.1(CC2D2A):c.1422C>T (p.Leu474=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1085179	NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1077625	NM_001378615.1(CC2D2A):c.3183-5C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1074596	NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)	CC2D2A (W464* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1059667	NM_001378615.1(CC2D2A):c.4315-6_4315-3del	CC2D2A	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1052835	NM_001378615.1(CC2D2A):c.3256C>A (p.Pro1086Thr)	CC2D2A (P1037T +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 969922	NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)	CC2D2A (R540K +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 961210	NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln)	CC2D2A (R948Q +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 957994	NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr)	CC2D2A (M1460T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 900659	NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)	CC2D2A (I912T +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GBenign/Likely benign
Select item 900132	NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)	CC2D2A (S577L +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 857160	NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)	CC2D2A (G777R +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +3 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)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 762894	NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 722460	NM_001378615.1(CC2D2A):c.2182-8G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 705305	NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 702914	NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 700746	NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 696088	NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 657346	NM_001378615.1(CC2D2A):c.3288+3G>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 656554	NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)	CC2D2A (V697A +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 640187	NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs)	CC2D2A (A1362fs +1 more)	Duplication (frameshift variant)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 632433	NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)	CC2D2A (Q305* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 631940	NM_001378615.1(CC2D2A):c.4496+2T>C	CC2D2A	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 631939	NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs)	CC2D2A (A1197fs +1 more)	Deletion (frameshift variant)	CC2D2A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 597873	NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)	CC2D2A (E251K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 597582	NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 597406	NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)	CC2D2A (R1528H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 597087	NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 596991	NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA	CC2D2A	Indel (intron variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity

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