"Ambry Genetics"[submitter] AND "C2CD2L"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2402805	NM_001290474.2(C2CD2L):c.28G>T (p.Val10Leu)	C2CD2L, LOC130006889 (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256856	NM_001290474.2(C2CD2L):c.112T>G (p.Trp38Gly)	C2CD2L, LOC130006889 (W38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226338	NM_001290474.2(C2CD2L):c.116T>G (p.Leu39Arg)	C2CD2L, LOC130006889 (L39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225015	NM_001290474.2(C2CD2L):c.134A>G (p.Asp45Gly)	C2CD2L, LOC130006889 (D45G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135852	NM_001290474.2(C2CD2L):c.142C>T (p.Pro48Ser)	C2CD2L, LOC130006889 (P48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135854	NM_001290474.2(C2CD2L):c.160G>C (p.Gly54Arg)	C2CD2L, LOC130006889 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490843	NM_001290474.2(C2CD2L):c.196T>C (p.Trp66Arg)	C2CD2L, LOC130006889 (W66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135857	NM_001290474.2(C2CD2L):c.235G>T (p.Ala79Ser)	C2CD2L, LOC130006889 (A79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294046	NM_001290474.2(C2CD2L):c.256C>T (p.Arg86Trp)	C2CD2L (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262445	NM_001290474.2(C2CD2L):c.281C>G (p.Ala94Gly)	C2CD2L (A94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379833	NM_001290474.2(C2CD2L):c.311G>A (p.Arg104Gln)	C2CD2L (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255490	NM_001290474.2(C2CD2L):c.351C>G (p.Asn117Lys)	C2CD2L (N117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135858	NM_001290474.2(C2CD2L):c.430G>A (p.Asp144Asn)	C2CD2L (D144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363744	NM_001290474.2(C2CD2L):c.484C>T (p.Arg162Trp)	C2CD2L (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612476	NM_001290474.2(C2CD2L):c.517G>A (p.Ala173Thr)	C2CD2L (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507433	NM_001290474.2(C2CD2L):c.530T>C (p.Met177Thr)	C2CD2L (M177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262447	NM_001290474.2(C2CD2L):c.562C>A (p.Pro188Thr)	C2CD2L (P188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493840	NM_001290474.2(C2CD2L):c.568C>G (p.Gln190Glu)	C2CD2L (Q190E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332462	NM_001290474.2(C2CD2L):c.578T>C (p.Val193Ala)	C2CD2L (V193A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225359	NM_001290474.2(C2CD2L):c.634C>T (p.Arg212Cys)	C2CD2L (R212C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339028	NM_001290474.2(C2CD2L):c.635G>A (p.Arg212His)	C2CD2L (R212H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599561	NM_001290474.2(C2CD2L):c.653C>T (p.Thr218Met)	C2CD2L (T218M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596732	NM_001290474.2(C2CD2L):c.686G>A (p.Gly229Asp)	C2CD2L (G229D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323913	NM_001290474.2(C2CD2L):c.733G>A (p.Ala245Thr)	C2CD2L (A245T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599913	NM_001290474.2(C2CD2L):c.790G>A (p.Gly264Arg)	C2CD2L (G264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382796	NM_001290474.2(C2CD2L):c.820A>C (p.Met274Leu)	C2CD2L (M237L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262444	NM_001290474.2(C2CD2L):c.872G>A (p.Arg291Gln)	C2CD2L (R291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614664	NM_001290474.2(C2CD2L):c.895G>A (p.Gly299Arg)	C2CD2L (G299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262449	NM_001290474.2(C2CD2L):c.1039C>T (p.Arg347Trp)	C2CD2L (R347W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593774	NM_001290474.2(C2CD2L):c.1040G>A (p.Arg347Gln)	C2CD2L (R310Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244099	NM_001290474.2(C2CD2L):c.1142G>A (p.Arg381Gln)	C2CD2L (R381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604770	NM_001290474.2(C2CD2L):c.1163C>T (p.Thr388Ile)	C2CD2L (T388I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207854	NM_001290474.2(C2CD2L):c.1309C>T (p.Arg437Trp)	C2CD2L (R400W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467309	NM_001290474.2(C2CD2L):c.1324G>A (p.Asp442Asn)	C2CD2L (D442N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287756	NM_001290474.2(C2CD2L):c.1452G>C (p.Glu484Asp)	C2CD2L (E447D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310722	NM_001290474.2(C2CD2L):c.1472C>T (p.Thr491Ile)	C2CD2L (T491I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352614	NM_001290474.2(C2CD2L):c.1535C>T (p.Ala512Val)	C2CD2L (A512V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135853	NM_001290474.2(C2CD2L):c.1564C>T (p.Arg522Trp)	C2CD2L (R523W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220221	NM_001290474.2(C2CD2L):c.1570G>A (p.Ala524Thr)	C2CD2L (A524T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529416	NM_001290474.2(C2CD2L):c.1592G>A (p.Arg531His)	C2CD2L (R531H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332835	NM_001290474.2(C2CD2L):c.1598C>T (p.Thr533Ile)	C2CD2L (T496I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621537	NM_001290474.2(C2CD2L):c.1724C>T (p.Ser575Leu)	C2CD2L (S576L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135855	NM_001290474.2(C2CD2L):c.1877C>T (p.Ala626Val)	C2CD2L (A589V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351450	NM_001290474.2(C2CD2L):c.1889G>A (p.Arg630His)	C2CD2L (R631H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135856	NM_001290474.2(C2CD2L):c.1922G>C (p.Arg641Pro)	C2CD2L (R604P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366680	NM_001290474.2(C2CD2L):c.1946G>A (p.Arg649His)	C2CD2L (R649H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608325	NM_001290474.2(C2CD2L):c.2006C>T (p.Ala669Val)	C2CD2L (A670V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517614	NM_001290474.2(C2CD2L):c.2026C>G (p.Arg676Gly)	C2CD2L (R639G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262448	NM_001290474.2(C2CD2L):c.2051G>A (p.Arg684His)	C2CD2L (R647H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 49