"GeneDx"[submitter] AND "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 1247865	NM_001286577.2(C2CD3):c.7044G>A (p.Gln2348=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 426369	NM_001286577.2(C2CD3):c.6736A>G (p.Ile2246Val)	C2CD3 (I2246V)	Single nucleotide variant (missense variant)	not specified	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 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 1274269	NM_001286577.2(C2CD3):c.6058T>C (p.Ser2020Pro)	C2CD3 (S2020P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1294603	NM_001286577.2(C2CD3):c.5882-72A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194018	NM_001286577.2(C2CD3):c.5882-332A>G	C2CD3	Single nucleotide variant (intron variant +1 more)	Orofaciodigital syndrome type 14 +1 more	GUncertain significance
Select item 1228470	NM_001286577.2(C2CD3):c.5881+344A>G	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262980	NM_001286577.2(C2CD3):c.5881+270G>A	C2CD3, LOC126861262	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288026	NM_001286577.2(C2CD3):c.5881+127dup	C2CD3, LOC126861262	Duplication (intron variant)	not provided	GBenign
Select item 1271888	NM_001286577.2(C2CD3):c.5660+308T>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227935	NM_001286577.2(C2CD3):c.5660+175T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1461043	NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg)	C2CD3 (L1871R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 423962	NM_001286577.2(C2CD3):c.5567C>T (p.Ser1856Phe)	C2CD3 (S1856F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801009	NM_001286577.2(C2CD3):c.5555G>A (p.Arg1852Gln)	C2CD3 (R1852Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1283564	NM_001286577.2(C2CD3):c.5496-24dup	C2CD3	Duplication (intron variant)	not provided	GBenign
Select item 1291465	NM_001286577.2(C2CD3):c.5496-7_5496-6del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1206337	NM_001286577.2(C2CD3):c.5496-6del	C2CD3	Deletion (intron variant)	Inborn genetic diseases +1 more	GBenign
Select item 1236076	NM_001286577.2(C2CD3):c.5496-143dup	C2CD3	Duplication (intron variant)	not provided	GBenign
Select item 1271614	NM_001286577.2(C2CD3):c.5494A>G (p.Arg1832Gly)	C2CD3 (R1832G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3365798	NM_001286577.2(C2CD3):c.5491G>A (p.Gly1831Arg)	C2CD3 (G1831R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243590	NM_001286577.2(C2CD3):c.5491G>T (p.Gly1831Trp)	C2CD3 (G1831W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 373578	NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His)	C2CD3 (Y1802H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2662305	NM_001286577.2(C2CD3):c.5371T>C (p.Tyr1791His)	C2CD3 (Y1791H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391297	NM_001286577.2(C2CD3):c.5362-4A>G	C2CD3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1232974	NM_001286577.2(C2CD3):c.5362-73C>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251247	NM_001286577.2(C2CD3):c.5362-161A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291964	NM_001286577.2(C2CD3):c.5362-236A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225186	NM_001286577.2(C2CD3):c.5362-281A>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241070	NM_001286577.2(C2CD3):c.5361+251A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663093	NM_001286577.2(C2CD3):c.5253T>G (p.Ser1751Arg)	C2CD3 (S1751R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418738	NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys)	C2CD3 (G1743C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1285906	NM_001286577.2(C2CD3):c.5156-99T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236262	NM_001286577.2(C2CD3):c.5155+295A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280988	NM_001286577.2(C2CD3):c.5155+293A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246873	NM_001286577.2(C2CD3):c.5155+200A>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248325	NM_001286577.2(C2CD3):c.5155+158A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262010	NM_001286577.2(C2CD3):c.5155+75dup	C2CD3	Duplication (intron variant)	not provided	GBenign
Select item 1264834	NM_001286577.2(C2CD3):c.5155+99del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1240412	NM_001286577.2(C2CD3):c.5155+92_5155+99del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1239264	NM_001286577.2(C2CD3):c.5155+97_5155+99del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1239875	NM_001286577.2(C2CD3):c.5091-71C>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266283	NM_001286577.2(C2CD3):c.5091-96A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285951	NM_001286577.2(C2CD3):c.5090+294G>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278391	NM_001286577.2(C2CD3):c.5090+226C>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246120	NM_001286577.2(C2CD3):c.4988G>A (p.Ser1663Asn)	C2CD3 (S1663N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1232366	NM_001286577.2(C2CD3):c.4951+179T>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192631	NM_001286577.2(C2CD3):c.4923A>G (p.Val1641=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 800747	NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln)	C2CD3 (R1553Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274088	NM_001286577.2(C2CD3):c.4604-241G>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237356	NM_001286577.2(C2CD3):c.4604-327_4604-319del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1248891	NM_001286577.2(C2CD3):c.4603+320T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236217	NM_001286577.2(C2CD3):c.4603+268A>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178205	NM_001286577.2(C2CD3):c.4603+267T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222658	NM_001286577.2(C2CD3):c.4603+184T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382345	NM_001286577.2(C2CD3):c.4600A>G (p.Ser1534Gly)	C2CD3 (S1534G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389648	NM_001286577.2(C2CD3):c.4487G>A (p.Arg1496Gln)	C2CD3 (R1496Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315114	NM_001286577.2(C2CD3):c.4097C>T (p.Ser1366Leu)	C2CD3 (S1366L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1237997	NM_001286577.2(C2CD3):c.4001-15A>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269312	NM_001286577.2(C2CD3):c.4001-115G>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283562	NM_001286577.2(C2CD3):c.4000+153T>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262535	NM_001286577.2(C2CD3):c.4000+140T>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224677	NM_001286577.2(C2CD3):c.3911-187dup	C2CD3	Duplication (intron variant)	not provided	GBenign
Select item 1192632	NM_001286577.2(C2CD3):c.3910+55A>G	C2CD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 419541	NM_001286577.2(C2CD3):c.3910+1G>A	C2CD3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1220770	NM_001286577.2(C2CD3):c.3890A>G (p.Tyr1297Cys)	C2CD3 (Y1297C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3368664	NM_001286577.2(C2CD3):c.3871G>C (p.Glu1291Gln)	C2CD3 (E1291Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256679	NM_001286577.2(C2CD3):c.3642-262A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259024	NM_001286577.2(C2CD3):c.3641+196C>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1518930	NM_001286577.2(C2CD3):c.3605A>G (p.Gln1202Arg)	C2CD3 (Q1202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 518172	NM_001286577.2(C2CD3):c.3518-3C>T	C2CD3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1230293	NM_001286577.2(C2CD3):c.3517+181C>T	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235407	NM_001286577.2(C2CD3):c.3517+72G>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249679	NM_001286577.2(C2CD3):c.3517+63G>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224909	NM_001286577.2(C2CD3):c.3345-188_3345-187insAG	C2CD3	Insertion (intron variant)	not provided	GBenign
Select item 1346089	NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe)	C2CD3 (L1066F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1265259	NM_001286577.2(C2CD3):c.3161-201del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1281989	NM_001286577.2(C2CD3):c.3160+302T>C	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283733	NM_001286577.2(C2CD3):c.3160+249T>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389647	NM_001286577.2(C2CD3):c.3082G>T (p.Asp1028Tyr)	C2CD3 (D1028Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236224	NM_001286577.2(C2CD3):c.2990G>A (p.Arg997Gln)	C2CD3 (R997Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248676	NM_001286577.2(C2CD3):c.2980-23del	C2CD3	Deletion (intron variant)	not provided	GBenign
Select item 1226980	NM_001286577.2(C2CD3):c.2755C>T (p.Leu919=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1221992	NM_001286577.2(C2CD3):c.2732+189A>G	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315115	NM_001286577.2(C2CD3):c.2728T>C (p.Phe910Leu)	C2CD3 (F910L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373577	NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln)	C2CD3 (R888Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 389613	NM_001286577.2(C2CD3):c.2594C>G (p.Ser865Cys)	C2CD3 (S865C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1245031	NM_001286577.2(C2CD3):c.2581-266C>A	C2CD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311851	NM_001286577.2(C2CD3):c.2504A>T (p.Lys835Ile)	C2CD3 (K835I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295018	NM_001286577.2(C2CD3):c.2280A>C (p.Ala760=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783633	NM_001286577.2(C2CD3):c.2151C>T (p.Asn717=)	C2CD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 389614	NM_001286577.2(C2CD3):c.2068C>G (p.Pro690Ala)	C2CD3 (P690A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 384435	NM_001286577.2(C2CD3):c.1964C>A (p.Pro655Gln)	C2CD3 (P655Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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