C2CD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1247865	NM_001286577.2(C2CD3):c.7044G>A (p.Gln2348=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1558546	NM_001286577.2(C2CD3):c.7028G>A (p.Arg2343Gln)	C2CD3 (R2343Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2901729	NM_001286577.2(C2CD3):c.7027C>T (p.Arg2343Trp)	C2CD3 (R2343W)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 14 +1 more	GConflicting classifications of pathogenicity
Select item 1956674	NM_001286577.2(C2CD3):c.6991C>T (p.Leu2331Phe)	C2CD3 (L2331F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984369	NM_001286577.2(C2CD3):c.6987C>T (p.Leu2329=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778044	NM_001286577.2(C2CD3):c.6984G>T (p.Ser2328=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1651482	NM_001286577.2(C2CD3):c.6980A>G (p.Asn2327Ser)	C2CD3 (N2327S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 548589	NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His)	C2CD3 (R2323H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2053300	NM_001286577.2(C2CD3):c.6965G>C (p.Cys2322Ser)	C2CD3 (C2322S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1972688	NM_001286577.2(C2CD3):c.6951C>T (p.Leu2317=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2056726	NM_001286577.2(C2CD3):c.6931G>A (p.Glu2311Lys)	C2CD3 (E2311K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635543	NM_001286577.2(C2CD3):c.6922-15C>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540445	NM_001286577.2(C2CD3):c.6922-18T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951793	NM_001286577.2(C2CD3):c.6922-20G>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238733	NM_001286577.2(C2CD3):c.6921+242A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273538	NM_001286577.2(C2CD3):c.6921+42A>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271346	NM_001286577.2(C2CD3):c.6921+31A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2416433	NM_001286577.2(C2CD3):c.6920A>C (p.Gln2307Pro)	C2CD3 (Q2307P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620639	NM_001286577.2(C2CD3):c.6891A>C (p.Ala2297=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033017	NM_001286577.2(C2CD3):c.6885C>T (p.Leu2295=)	C2CD3	Single nucleotide variant (synonymous variant)	C2CD3-related disorder	GLikely benign
Select item 444263	NM_001286577.2(C2CD3):c.6833A>G (p.Asn2278Ser)	C2CD3 (N2278S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1398323	NM_001286577.2(C2CD3):c.6827T>C (p.Val2276Ala)	C2CD3 (V2276A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562489	NM_001286577.2(C2CD3):c.6819C>T (p.Pro2273=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434988	NM_001286577.2(C2CD3):c.6815G>T (p.Gly2272Val)	C2CD3 (G2272V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281677	NM_001286577.2(C2CD3):c.6810-210G>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179295	NM_001286577.2(C2CD3):c.6810-238A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1805478	NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=)	C2CD3	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome type 14	GUncertain significance
Select item 1424830	NM_001286577.2(C2CD3):c.6798G>C (p.Gln2266His)	C2CD3 (Q2266H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933900	NM_001286577.2(C2CD3):c.6786G>A (p.Thr2262=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1992175	NM_001286577.2(C2CD3):c.6741C>T (p.Asp2247=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 426369	NM_001286577.2(C2CD3):c.6736A>G (p.Ile2246Val)	C2CD3 (I2246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3007399	NM_001286577.2(C2CD3):c.6719A>G (p.Asn2240Ser)	C2CD3 (N2240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795134	NM_001286577.2(C2CD3):c.6711A>T (p.Arg2237Ser)	C2CD3 (R2237S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1911861	NM_001286577.2(C2CD3):c.6687G>A (p.Pro2229=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976348	NM_001286577.2(C2CD3):c.6668A>G (p.Asp2223Gly)	C2CD3 (D2223G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605986	NM_001286577.2(C2CD3):c.6660C>T (p.Asp2220=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504002	NM_001286577.2(C2CD3):c.6655G>A (p.Gly2219Ser)	C2CD3 (G2219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015073	NM_001286577.2(C2CD3):c.6654C>T (p.Leu2218=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509642	NM_001286577.2(C2CD3):c.6646A>C (p.Ser2216Arg)	C2CD3 (S2216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853031	NM_001286577.2(C2CD3):c.6632A>G (p.Asn2211Ser)	C2CD3 (N2211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488045	NM_001286577.2(C2CD3):c.6590C>T (p.Thr2197Ile)	C2CD3 (T2197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905494	NM_001286577.2(C2CD3):c.6573A>T (p.Gly2191=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2195250	NM_001286577.2(C2CD3):c.6572G>C (p.Gly2191Ala)	C2CD3 (G2191A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1936916	NM_001286577.2(C2CD3):c.6572G>A (p.Gly2191Glu)	C2CD3 (G2191E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981072	NM_001286577.2(C2CD3):c.6564G>A (p.Thr2188=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2186649	NM_001286577.2(C2CD3):c.6563C>T (p.Thr2188Met)	C2CD3 (T2188M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429959	NM_001286577.2(C2CD3):c.6558C>A (p.Ser2186Arg)	C2CD3 (S2186R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1932031	NM_001286577.2(C2CD3):c.6552A>G (p.Gln2184=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421808	NM_001286577.2(C2CD3):c.6538C>G (p.Leu2180Val)	C2CD3 (L2180V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1943967	NM_001286577.2(C2CD3):c.6535A>G (p.Thr2179Ala)	C2CD3 (T2179A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906635	NM_001286577.2(C2CD3):c.6526C>G (p.Pro2176Ala)	C2CD3 (P2176A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084897	NM_001286577.2(C2CD3):c.6515C>T (p.Pro2172Leu)	C2CD3 (P2172L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525619	NM_001286577.2(C2CD3):c.6512A>C (p.Asn2171Thr)	C2CD3 (N2171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961269	NM_001286577.2(C2CD3):c.6509C>T (p.Ala2170Val)	C2CD3 (A2170V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039258	NM_001286577.2(C2CD3):c.6498G>A (p.Glu2166=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538978	NM_001286577.2(C2CD3):c.6489T>G (p.Val2163=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1658277	NM_001286577.2(C2CD3):c.6487G>T (p.Val2163Phe)	C2CD3 (V2163F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2124346	NM_001286577.2(C2CD3):c.6472G>T (p.Ala2158Ser)	C2CD3 (A2158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031041	NM_001286577.2(C2CD3):c.6462T>C (p.Cys2154=)	C2CD3	Single nucleotide variant (synonymous variant)	C2CD3-related disorder	GLikely benign
Select item 1599109	NM_001286577.2(C2CD3):c.6458C>T (p.Ala2153Val)	C2CD3 (A2153V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2001247	NM_001286577.2(C2CD3):c.6455T>C (p.Val2152Ala)	C2CD3 (V2152A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953320	NM_001286577.2(C2CD3):c.6454G>A (p.Val2152Ile)	C2CD3 (V2152I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944404	NM_001286577.2(C2CD3):c.6445C>G (p.Gln2149Glu)	C2CD3 (Q2149E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806695	NM_001286577.2(C2CD3):c.6435_6436dup (p.Ser2146fs)	C2CD3 (S2146fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2088809	NM_001286577.2(C2CD3):c.6434G>A (p.Gly2145Asp)	C2CD3 (G2145D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039449	NM_001286577.2(C2CD3):c.6429G>A (p.Arg2143=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586388	NM_001286577.2(C2CD3):c.6420C>T (p.His2140=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978159	NM_001286577.2(C2CD3):c.6406G>A (p.Ala2136Thr)	C2CD3 (A2136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347221	NM_001286577.2(C2CD3):c.6389T>C (p.Leu2130Pro)	C2CD3 (L2130P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985120	NM_001286577.2(C2CD3):c.6385T>C (p.Phe2129Leu)	C2CD3 (F2129L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519222	NM_001286577.2(C2CD3):c.6358A>G (p.Arg2120Gly)	C2CD3 (R2120G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771890	NM_001286577.2(C2CD3):c.6343C>T (p.Pro2115Ser)	C2CD3 (P2115S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1998439	NM_001286577.2(C2CD3):c.6340T>C (p.Ser2114Pro)	C2CD3 (S2114P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408756	NM_001286577.2(C2CD3):c.6332C>G (p.Ser2111Cys)	C2CD3 (S2111C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987558	NM_001286577.2(C2CD3):c.6327C>A (p.Gly2109=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562122	NM_001286577.2(C2CD3):c.6323_6325dup (p.Glu2108dup)	C2CD3	Duplication (inframe_insertion)	not provided	GBenign
Select item 2036500	NM_001286577.2(C2CD3):c.6320G>A (p.Arg2107Lys)	C2CD3 (R2107K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576695	NM_001286577.2(C2CD3):c.6309C>T (p.Asp2103=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421041	NM_001286577.2(C2CD3):c.6291C>A (p.Val2097=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2012289	NM_001286577.2(C2CD3):c.6267T>A (p.Ser2089Arg)	C2CD3 (S2089R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589925	NM_001286577.2(C2CD3):c.6251C>G (p.Thr2084Ser)	C2CD3 (T2084S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1012988	NM_001286577.2(C2CD3):c.6237G>A (p.Thr2079=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1301610	NM_001286577.2(C2CD3):c.6236C>T (p.Thr2079Met)	C2CD3 (T2079M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2099532	NM_001286577.2(C2CD3):c.6233C>T (p.Thr2078Ile)	C2CD3 (T2078I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623902	NM_001286577.2(C2CD3):c.6225T>G (p.Asn2075Lys)	C2CD3 (N2075K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1918949	NM_001286577.2(C2CD3):c.6219C>T (p.Thr2073=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546453	NM_001286577.2(C2CD3):c.6216G>A (p.Arg2072=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091229	NM_001286577.2(C2CD3):c.6206T>A (p.Ile2069Asn)	C2CD3 (I2069N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434327	NM_001286577.2(C2CD3):c.6191A>G (p.Tyr2064Cys)	C2CD3 (Y2064C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2022189	NM_001286577.2(C2CD3):c.6156C>T (p.Asp2052=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1520073	NM_001286577.2(C2CD3):c.6139A>G (p.Met2047Val)	C2CD3 (M2047V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022209	NM_001286577.2(C2CD3):c.6128C>T (p.Pro2043Leu)	C2CD3 (P2043L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532653	NM_001286577.2(C2CD3):c.6122C>T (p.Ala2041Val)	C2CD3 (A2041V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1629947	NM_001286577.2(C2CD3):c.6117G>T (p.Arg2039Ser)	C2CD3 (R2039S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2163374	NM_001286577.2(C2CD3):c.6094A>C (p.Arg2032=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922268	NM_001286577.2(C2CD3):c.6092G>A (p.Gly2031Glu)	C2CD3 (G2031E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345688	NM_001286577.2(C2CD3):c.6067C>G (p.Pro2023Ala)	C2CD3 (P2023A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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