CC2D2A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321482	NC_000004.12:g.15469808T>C	CC2D2A	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 347750	NM_001378615.1(CC2D2A):c.-178T>C	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 6 +2 more	GUncertain significance
Select item 899750	NM_001378615.1(CC2D2A):c.-87G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 6 +1 more	GConflicting classifications of pathogenicity
Select item 899751	NM_001378615.1(CC2D2A):c.-47G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 9 +1 more	GUncertain significance
Select item 126226	NM_001378615.1(CC2D2A):c.-19+37G>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347751	NM_001378615.1(CC2D2A):c.-18-2673G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1178118	NM_001378615.1(CC2D2A):c.-18-2543C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238142	NM_001378615.1(CC2D2A):c.-18-2439A>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688722	NM_001378615.1(CC2D2A):c.-18-2263T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990970	NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)	CC2D2A (N2S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 593657	NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr)	CC2D2A (P3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 347752	NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)	CC2D2A (R4G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 2950229	NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2944684	NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)	CC2D2A (E6*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2943732	NM_001378615.1(CC2D2A):c.28del (p.Lys9_Ile10insTer)	CC2D2A	Deletion (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2949043	NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter)	CC2D2A (K9*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2926082	NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs)	CC2D2A (T12fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1999416	NM_001378615.1(CC2D2A):c.39+6T>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1104472	NM_001378615.1(CC2D2A):c.39+7G>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1636700	NM_001378615.1(CC2D2A):c.39+8G>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2938529	NM_001378615.1(CC2D2A):c.39+10C>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1617212	NM_001378615.1(CC2D2A):c.39+13_39+15dup	CC2D2A	Duplication (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2949354	NM_001378615.1(CC2D2A):c.39+16G>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952727	NM_001378615.1(CC2D2A):c.39+20T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 678280	NM_001378615.1(CC2D2A):c.39+217C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668061	NM_001378615.1(CC2D2A):c.40-274T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179518	NM_001378615.1(CC2D2A):c.40-179A>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192540	NM_001378615.1(CC2D2A):c.40-122A>C	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +2 more	GBenign
Select item 2934005	NM_001378615.1(CC2D2A):c.40-18T>G	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2928572	NM_001378615.1(CC2D2A):c.40-13C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2054339	NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys)	CC2D2A (E14K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 417568	NC_000004.12:g.(?_15478723)_(15480827_?)del	CC2D2A	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 1098110	NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2950051	NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2943170	NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1464531	NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His)	CC2D2A (D19H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 969124	NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)	CC2D2A (D19V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 962423	NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)	CC2D2A (E20K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 817142	NM_001378615.1(CC2D2A):c.62delinsTC (p.Asp21fs)	CC2D2A (D21fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1640103	NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2938787	NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs)	CC2D2A (R26fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2927618	NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)	CC2D2A (Q27*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2929899	NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1515318	NM_001378615.1(CC2D2A):c.97G>A (p.Val33Ile)	CC2D2A (V33I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 377067	NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)	CC2D2A (R34*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 498107	NM_001378615.1(CC2D2A):c.101G>A (p.Arg34Gln)	CC2D2A (R34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289830	NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2929358	NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1382501	NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys)	CC2D2A (R38K)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2616661	NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)	CC2D2A (K40T)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 2085756	NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg)	CC2D2A (K40R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1456425	NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter)	CC2D2A (Q41*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2950749	NM_001378615.1(CC2D2A):c.123+2T>G	CC2D2A	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2923036	NM_001378615.1(CC2D2A):c.123+9T>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1131429	NM_001378615.1(CC2D2A):c.123+12C>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1912996	NM_001378615.1(CC2D2A):c.123+16A>G	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1149080	NM_001378615.1(CC2D2A):c.123+19C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1631421	NM_001378615.1(CC2D2A):c.123+23_123+24del	CC2D2A	Microsatellite (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1275719	NM_001378615.1(CC2D2A):c.123+52G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197767	NM_001378615.1(CC2D2A):c.123+132G>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242983	NM_001378615.1(CC2D2A):c.123+235T>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2688724	NM_001378615.1(CC2D2A):c.123+470A>G	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2654680	NM_001378615.1(CC2D2A):c.123+476T>C	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2654681	NM_001378615.1(CC2D2A):c.123+483C>T	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 1193832	NM_001378615.1(CC2D2A):c.123+654C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225044	NM_001378615.1(CC2D2A):c.123+679G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180090	NM_001378615.1(CC2D2A):c.124-252C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1147129	NM_001378615.1(CC2D2A):c.124-18C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2937837	NM_001378615.1(CC2D2A):c.124-14C>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2094260	NM_001378615.1(CC2D2A):c.124-9_124-7del	CC2D2A	Microsatellite (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1996610	NM_001378615.1(CC2D2A):c.124-13C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2931009	NM_001378615.1(CC2D2A):c.124-9T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 93531	NM_001378615.1(CC2D2A):c.124-6C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1935783	NM_001378615.1(CC2D2A):c.124-1G>C	CC2D2A	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 1993837	NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala)	CC2D2A (N79S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1426991	NM_001378615.1(CC2D2A):c.149T>C (p.Met50Thr)	CC2D2A (M50T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 965873	NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)	CC2D2A (N85K +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1498173	NM_001378615.1(CC2D2A):c.152T>C (p.Val51Ala)	CC2D2A (V51A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 126229	NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)	CC2D2A (R88*)	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 6 +6 more	GBenign
Select item 279737	NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)	CC2D2A (R88Q +2 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 2949392	NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)	CC2D2A (P91T)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 197715	NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)	CC2D2A (P91A)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1039410	NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr)	CC2D2A (H56Y +2 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2943263	NM_001378615.1(CC2D2A):c.173del (p.Gly58fs)	CC2D2A (G58fs +2 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2926756	NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)	CC2D2A (Q94*)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 419063	NM_001378615.1(CC2D2A):c.176del (p.Asn59fs)	CC2D2A (N59fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3256946	NM_001378615.1(CC2D2A):c.181del (p.Gln61fs)	CC2D2A (P96fs +2 more)	Deletion (frameshift variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 1049413	NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=)	CC2D2A (P95S)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1060823	NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu)	CC2D2A (P11L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 290389	NM_001378615.1(CC2D2A):c.192G>A (p.Val64=)	CC2D2A (A100T)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 595006	NM_001378615.1(CC2D2A):c.199del (p.Glu67fs)	CC2D2A (G102fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1953515	NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)	CC2D2A (A103T)	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2141205	NM_001378615.1(CC2D2A):c.209C>T (p.Thr70Ile)	CC2D2A (T70I +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2439782	NM_001378615.1(CC2D2A):c.211C>T (p.Arg71Cys)	CC2D2A (P106L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2941925	NM_001378615.1(CC2D2A):c.213C>A (p.Arg71=)	CC2D2A (P107T)	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1540498	NM_001378615.1(CC2D2A):c.213C>G (p.Arg71=)	CC2D2A (P107A)	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign

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