"GeneDx"[submitter] AND "CC2D2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 1321482	NC_000004.12:g.15469808T>C	CC2D2A	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
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)	Meckel syndrome, type 6 +3 more	GConflicting classifications of pathogenicity
Select item 3378208	NM_001378615.1(CC2D2A):c.-18-2658T>G	CC2D2A	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
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 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 817142	NM_001378615.1(CC2D2A):c.62delinsTC (p.Asp21fs)	CC2D2A (D21fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
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 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 93531	NM_001378615.1(CC2D2A):c.124-6C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided +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 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 3367821	NM_001378615.1(CC2D2A):c.170T>C (p.Leu57Pro)	CC2D2A (L57P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 419063	NM_001378615.1(CC2D2A):c.176del (p.Asn59fs)	CC2D2A (N59fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 1423931	NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln)	CC2D2A (R82Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 126233	NM_001378615.1(CC2D2A):c.247+26A>G	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 1255345	NM_001378615.1(CC2D2A):c.247+217A>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186406	NM_001378615.1(CC2D2A):c.247+259A>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217933	NM_001378615.1(CC2D2A):c.247+286T>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267391	NM_001378615.1(CC2D2A):c.247+358G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206345	NM_001378615.1(CC2D2A):c.247+453G>A	CC2D2A (G111R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1280448	NM_001378615.1(CC2D2A):c.247+553G>A	CC2D2A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 678326	NM_001378615.1(CC2D2A):c.247+639G>A	CC2D2A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1230078	NM_001378615.1(CC2D2A):c.248-57TTTTC[3]	CC2D2A	Microsatellite (intron variant)	not provided	GBenign
Select item 288344	NM_001378615.1(CC2D2A):c.274A>G (p.Arg92Gly)	CC2D2A (R92G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420568	NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr)	CC2D2A (A96T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1693418	NM_001378615.1(CC2D2A):c.298A>G (p.Met100Val)	CC2D2A (M100V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061071	NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)	CC2D2A (M100L +1 more)	Single nucleotide variant (missense variant)	COACH syndrome 2 +7 more	GUncertain significance
Select item 1200893	NM_001378615.1(CC2D2A):c.336+120G>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073114	NM_001378615.1(CC2D2A):c.337-2A>C	CC2D2A	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 198451	NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)	CC2D2A (S117R +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1316050	NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr)	CC2D2A (A118T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198452	NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)	CC2D2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 392967	NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)	CC2D2A (R127Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3360145	NM_001378615.1(CC2D2A):c.394C>G (p.Arg132Gly)	CC2D2A (R132G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126242	NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	CC2D2A (R132* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1194704	NM_001378615.1(CC2D2A):c.438+25T>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673832	NM_001378615.1(CC2D2A):c.438+261T>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277104	NM_001378615.1(CC2D2A):c.438+273G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286656	NM_001378615.1(CC2D2A):c.439-107G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200311	NM_001378615.1(CC2D2A):c.439-28T>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198763	NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)	CC2D2A (K167N +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 56315	NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	CC2D2A (R173* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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)	not provided +3 more	GBenign/Likely benign
Select item 1809944	NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)	CC2D2A (G135A +1 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2146535	NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)	CC2D2A (A216P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2136143	NM_001378615.1(CC2D2A):c.673G>T (p.Gly225Trp)	CC2D2A (G176W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 56316	NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)	CC2D2A (E229del +1 more)	Microsatellite (inframe_deletion)	Joubert syndrome 1 +5 more	GBenign/Likely benign
Select item 674721	NM_001378615.1(CC2D2A):c.717+101C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187470	NM_001378615.1(CC2D2A):c.718-171C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126247	NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)	CC2D2A (E241K +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +5 more	GBenign/Likely benign
Select item 257395	NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 1317356	NM_001378615.1(CC2D2A):c.766G>A (p.Gly256Ser)	CC2D2A (G207S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126248	NM_001378615.1(CC2D2A):c.777C>T (p.His259=)	CC2D2A	Single nucleotide variant (genic downstream transcript variant +1 more)	Joubert syndrome 9 +5 more	GBenign
Select item 506421	NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)	CC2D2A (F308L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1318447	NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)	CC2D2A (D262G +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +6 more	GConflicting classifications of pathogenicity
Select item 681786	NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 430351	NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)	CC2D2A (R324C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 285506	NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)	CC2D2A (R324H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +4 more	GConflicting classifications of pathogenicity
Select item 166801	NM_001378615.1(CC2D2A):c.1017+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +3 more	GPathogenic
Select item 1265341	NM_001378615.1(CC2D2A):c.1017+142dup	CC2D2A	Duplication (intron variant)	not provided	GBenign
Select item 1260314	NM_001378615.1(CC2D2A):c.1017+142del	CC2D2A	Deletion (intron variant)	not provided	GBenign
Select item 1235090	NM_001378615.1(CC2D2A):c.1017+309C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 166802	NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2041102	NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser)	CC2D2A (G348S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1983645	NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala)	CC2D2A (T368A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194018	NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)	CC2D2A (S372R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 126227	NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)	CC2D2A (E376A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +5 more	GBenign
Select item 1194406	NM_001378615.1(CC2D2A):c.1149+211dup	CC2D2A	Duplication (intron variant)	not provided	GLikely benign
Select item 1297381	NM_001378615.1(CC2D2A):c.1149+211del	CC2D2A	Deletion (intron variant)	not provided	GBenign
Select item 1272619	NM_001378615.1(CC2D2A):c.1149+209_1149+211del	CC2D2A	Deletion (intron variant)	not provided	GBenign
Select item 1237401	NM_001378615.1(CC2D2A):c.1149+210_1149+211del	CC2D2A	Deletion (intron variant)	not provided	GBenign
Select item 1238530	NM_001378615.1(CC2D2A):c.1149+216C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199897	NM_001378615.1(CC2D2A):c.1149+253G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194767	NM_001378615.1(CC2D2A):c.1149+255G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198099	NM_001378615.1(CC2D2A):c.1150-158C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208351	NM_001378615.1(CC2D2A):c.1150-81G>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499831	NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)	CC2D2A (V388I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 597869	NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val)	CC2D2A (I408V +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 672230	NM_001378615.1(CC2D2A):c.1236G>A (p.Gly412=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965184	NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)	CC2D2A (A398V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +3 more	GUncertain significance
Select item 1809943	NM_001378615.1(CC2D2A):c.1355A>C (p.Asp452Ala)	CC2D2A (D403A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206472	NM_001378615.1(CC2D2A):c.1359+26T>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200392	NM_001378615.1(CC2D2A):c.1360-152A>G	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674722	NM_001378615.1(CC2D2A):c.1360-119C>A	CC2D2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429902	NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter)	CC2D2A (L457* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 852087	NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)	CC2D2A (R440Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1223540	NM_001378615.1(CC2D2A):c.1466+231C>T	CC2D2A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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