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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 303485	NM_001378964.1(CDON):c.*278T>C	CDON	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303488	NM_001378964.1(CDON):c.*140A>G	CDON	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 11 +1 more	GBenign
Select item 260799	NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn)	CDON (I1221N +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +3 more	GBenign
Select item 1233281	NM_001378964.1(CDON):c.3632-150C>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234941	NM_001378964.1(CDON):c.3631+212A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663216	NM_001378964.1(CDON):c.3631+11C>T	CDON	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1309875	NM_001378964.1(CDON):c.3554C>A (p.Thr1185Asn)	CDON (T1185N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260797	NM_001378964.1(CDON):c.3549C>T (p.Val1183=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11 +2 more	GBenign
Select item 260796	NM_001378964.1(CDON):c.3526G>A (p.Val1176Ile)	CDON (V1176I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2454962	NM_001378964.1(CDON):c.3515C>T (p.Pro1172Leu)	CDON (P1172L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1800901	NM_001378964.1(CDON):c.3474del (p.Val1159fs)	CDON (V1159fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1707981	NM_001378964.1(CDON):c.3472C>T (p.Pro1158Ser)	CDON (P1158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402206	NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)	CDON (P1132L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1224808	NM_001378964.1(CDON):c.3356+210C>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225877	NM_001378964.1(CDON):c.3356+163C>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925419	NM_001378964.1(CDON):c.3318_3325del (p.Leu1106_Glu1107insTer)	CDON	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 260793	NM_001378964.1(CDON):c.3294G>A (p.Thr1098=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11 +2 more	GBenign
Select item 1248368	NM_001378964.1(CDON):c.3277-141T>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263578	NM_001378964.1(CDON):c.3277-204A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260055	NM_001378964.1(CDON):c.3277-228G>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289933	NM_001378964.1(CDON):c.3277-243A>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200828	NM_001378964.1(CDON):c.3276+294C>T	CDON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258012	NM_001378964.1(CDON):c.3276+179T>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236823	NM_001378964.1(CDON):c.3276+63G>C	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200905	NM_001378964.1(CDON):c.3276+27C>T	CDON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260792	NM_001378964.1(CDON):c.3165T>C (p.Asn1055=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11 +2 more	GBenign
Select item 1696995	NM_001378964.1(CDON):c.3125T>G (p.Leu1042Arg)	CDON (L1042R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260791	NM_001378964.1(CDON):c.3039C>T (p.Asn1013=)	CDON	Single nucleotide variant (synonymous variant)	Holoprosencephaly 11 +2 more	GBenign
Select item 2499339	NM_001378964.1(CDON):c.3010_3014del (p.Gly1004fs)	CDON (G1004fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1303531	NM_001378964.1(CDON):c.3004C>G (p.Pro1002Ala)	CDON (P1002A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280472	NM_001378964.1(CDON):c.2996-36_2996-23del	CDON	Deletion (intron variant)	not provided	GBenign
Select item 1274766	NM_001378964.1(CDON):c.2996-45_2996-42del	CDON	Microsatellite (intron variant)	not provided	GBenign
Select item 260790	NM_001378964.1(CDON):c.2996-48G>T	CDON	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1277149	NM_001378964.1(CDON):c.2996-76A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239244	NM_001378964.1(CDON):c.2996-114GTGTGCGT[2]	CDON	Microsatellite (intron variant)	not provided	GBenign
Select item 1179264	NM_001378964.1(CDON):c.2996-187T>C	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276229	NM_001378964.1(CDON):c.2995+244T>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220765	NM_001378964.1(CDON):c.2995+208A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286841	NM_001378964.1(CDON):c.2995+70T>C	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369348	NM_001378964.1(CDON):c.2963T>C (p.Leu988Pro)	CDON (L988P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642518	NM_001378964.1(CDON):c.2936T>C (p.Ile979Thr)	CDON (I979T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 539751	NM_001378964.1(CDON):c.2923G>A (p.Val975Ile)	CDON (V975I)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GBenign/Likely benign
Select item 2507343	NM_001378964.1(CDON):c.2839G>C (p.Gly947Arg)	CDON (G947R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264945	NM_001378964.1(CDON):c.2773+125C>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365141	NM_001378964.1(CDON):c.2768C>T (p.Thr923Ile)	CDON (T923I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503242	NM_001378964.1(CDON):c.2665C>A (p.His889Asn)	CDON (H889N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265799	NM_001378964.1(CDON):c.2651-129A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296968	NM_001378964.1(CDON):c.2651-136T>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247595	NM_001378964.1(CDON):c.2650+185G>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580088	NM_001378964.1(CDON):c.2650+1G>T	CDON	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1358028	NM_001378964.1(CDON):c.2624G>A (p.Ser875Asn)	CDON (S875N)	Single nucleotide variant (missense variant)	Holoprosencephaly 11 +1 more	GUncertain significance
Select item 260789	NM_001378964.1(CDON):c.2623A>G (p.Ser875Gly)	CDON (S875G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3369065	NM_001378964.1(CDON):c.2619T>G (p.Asn873Lys)	CDON (N873K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260788	NM_001378964.1(CDON):c.2545-42A>G	CDON	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1281487	NM_001378964.1(CDON):c.2545-206C>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190016	NM_001378964.1(CDON):c.2544+229G>A	CDON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452080	NM_001378964.1(CDON):c.2441A>G (p.Gln814Arg)	CDON (Q814R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260787	NM_001378964.1(CDON):c.2363-37GTT[3]	CDON	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1259976	NM_001378964.1(CDON):c.2363-66T>C	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225534	NM_001378964.1(CDON):c.2363-209A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234597	NM_001378964.1(CDON):c.2362+276A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242289	NM_001378964.1(CDON):c.2362+57_2362+62del	CDON	Deletion (intron variant)	not provided	GBenign
Select item 260786	NM_001378964.1(CDON):c.2362+49C>A	CDON	Single nucleotide variant (intron variant)	Holoprosencephaly 11 +2 more	GBenign
Select item 1312889	NM_001378964.1(CDON):c.2336_2337del (p.Ser779fs)	CDON (S779fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2231661	NM_001378964.1(CDON):c.2279G>T (p.Arg760Leu)	CDON (R760L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302099	NM_001378964.1(CDON):c.2189C>T (p.Ser730Phe)	CDON (S730F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232173	NM_001378964.1(CDON):c.2158+313T>C	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273351	NM_001378964.1(CDON):c.2158+234A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239560	NM_001378964.1(CDON):c.2158+201_2158+202del	CDON	Microsatellite (intron variant)	not provided	GBenign
Select item 1230889	NM_001378964.1(CDON):c.2158+161A>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205480	NM_001378964.1(CDON):c.2158+126A>G	CDON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268878	NM_001378964.1(CDON):c.2158+60G>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499967	NM_001378964.1(CDON):c.2075G>T (p.Gly692Val)	CDON (G692V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343543	NM_001378964.1(CDON):c.2065C>T (p.Pro689Ser)	CDON (P689S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30747	NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala)	CDON (P689A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 260785	NM_001378964.1(CDON):c.2057C>T (p.Ala686Val)	CDON (A686V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1305671	NM_001378964.1(CDON):c.2056G>T (p.Ala686Ser)	CDON (A686S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260784	NM_001378964.1(CDON):c.2037G>A (p.Ala679=)	CDON	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1260908	NM_001378964.1(CDON):c.2027-210T>C	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287267	NM_001378964.1(CDON):c.2027-215C>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262171	NM_001378964.1(CDON):c.2027-218del	CDON	Deletion (intron variant)	not provided	GBenign
Select item 1284022	NM_001378964.1(CDON):c.2026+175C>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247624	NM_001378964.1(CDON):c.2026+158C>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223919	NM_001378964.1(CDON):c.1852-187C>G	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274303	NM_001378964.1(CDON):c.1851+256G>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211961	NM_001378964.1(CDON):c.1851+224T>A	CDON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237932	NM_001378964.1(CDON):c.1851+140C>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272743	NM_001378964.1(CDON):c.1851+100A>T	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 303509	NM_001378964.1(CDON):c.1851+14G>A	CDON	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3364260	NM_001378964.1(CDON):c.1834T>C (p.Phe612Leu)	CDON (F612L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368520	NM_001378964.1(CDON):c.1817T>A (p.Leu606Gln)	CDON (L606Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446242	NM_001378964.1(CDON):c.1810G>T (p.Gly604Cys)	CDON (G604C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576662	NM_001378964.1(CDON):c.1780T>C (p.Tyr594His)	CDON (Y594H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260783	NM_001378964.1(CDON):c.1671G>A (p.Lys557=)	CDON	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 432798	NM_001378964.1(CDON):c.1663C>T (p.Pro555Ser)	CDON (P555S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 303516	NM_001378964.1(CDON):c.1603G>A (p.Ala535Thr)	CDON (A535T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1279342	NM_001378964.1(CDON):c.1552+173G>A	CDON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504819	NM_001378964.1(CDON):c.1552+1G>A	CDON	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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