146059[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 885031	NM_138477.4(CDAN1):c.*896T>C	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315906	NM_138477.4(CDAN1):c.*827A>G	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315907	NM_138477.4(CDAN1):c.*788G>T	CDAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 315908	NM_138477.4(CDAN1):c.*775AACA[1]	CDAN1	Microsatellite (3 prime UTR variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 885937	NM_138477.4(CDAN1):c.*753C>T	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885938	NM_138477.4(CDAN1):c.*731C>A	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315909	NM_138477.4(CDAN1):c.*722G>A	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885939	NM_138477.4(CDAN1):c.*687G>C	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885940	NM_138477.4(CDAN1):c.*680C>G	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885941	NM_138477.4(CDAN1):c.*657A>G	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885942	NM_138477.4(CDAN1):c.*641G>T	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315910	NM_138477.4(CDAN1):c.*600A>G	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 886941	NM_138477.4(CDAN1):c.*539C>T	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315911	NM_138477.4(CDAN1):c.463_465del	CDAN1	Deletion (3 prime UTR variant)	Congenital dyserythropoietic anemia	GLikely benign
Select item 315912	NM_138477.4(CDAN1):c.*349A>G	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315913	NM_138477.4(CDAN1):c.*249GTTT[1]	CDAN1	Microsatellite (3 prime UTR variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 315914	NM_138477.4(CDAN1):c.*223G>C	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315915	NM_138477.4(CDAN1):c.*214T>C	CDAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 886942	NM_138477.4(CDAN1):c.*174G>C	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315916	NM_138477.4(CDAN1):c.*142A>G	CDAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 886943	NM_138477.4(CDAN1):c.*94T>C	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315917	NM_138477.4(CDAN1):c.*58G>A	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 2176234	NM_138477.4(CDAN1):c.3683A>G (p.Ter1228Trp)	CDAN1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2133680	NM_138477.4(CDAN1):c.3674_3675insT (p.Gln1226fs)	CDAN1 (Q1226fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 784317	NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GBenign/Likely benign
Select item 2688741	NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)	CDAN1 (R1220W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2183937	NM_138477.4(CDAN1):c.3651G>A (p.Gln1217=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 888206	NM_138477.4(CDAN1):c.3648G>A (p.Val1216=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 2606922	NM_138477.4(CDAN1):c.3640G>A (p.Glu1214Lys)	CDAN1 (E1214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879293	NM_138477.4(CDAN1):c.3639T>C (p.Cys1213=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2807959	NM_138477.4(CDAN1):c.3636C>T (p.Ala1212=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050070	NM_138477.4(CDAN1):c.3625C>A (p.Gln1209Lys)	CDAN1 (Q1209K)	Single nucleotide variant (missense variant)	CDAN1-related disorder	GUncertain significance
Select item 3264919	NM_138477.4(CDAN1):c.3623C>G (p.Pro1208Arg)	CDAN1 (P1208R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1993244	NM_138477.4(CDAN1):c.3616C>G (p.Pro1206Ala)	CDAN1 (P1206A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688740	NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)	CDAN1 (E1202K)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1919822	NM_138477.4(CDAN1):c.3603C>T (p.Ala1201=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688743	NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)	CDAN1 (F1199L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1940198	NM_138477.4(CDAN1):c.3592C>G (p.Leu1198Val)	CDAN1 (L1198V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048338	NM_138477.4(CDAN1):c.3591T>C (p.Asn1197=)	CDAN1	Single nucleotide variant (synonymous variant)	CDAN1-related disorder	GLikely benign
Select item 315918	NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile)	CDAN1 (N1197I)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 2299675	NM_138477.4(CDAN1):c.3589A>G (p.Asn1197Asp)	CDAN1 (N1197D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2806938	NM_138477.4(CDAN1):c.3585G>C (p.Leu1195=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888404	NM_138477.4(CDAN1):c.3584T>C (p.Leu1195Pro)	CDAN1 (L1195P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888207	NM_138477.4(CDAN1):c.3559-10T>C	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315919	NM_138477.4(CDAN1):c.3559-11A>G	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 1241994	NM_138477.4(CDAN1):c.3559-73_3559-70dup	CDAN1	Duplication (intron variant)	not provided	GBenign
Select item 1276563	NM_138477.4(CDAN1):c.3558+261C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2836443	NM_138477.4(CDAN1):c.3554_3558+2del	CDAN1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1033086	NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg)	CDAN1 (G1186R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GUncertain significance
Select item 2024668	NM_138477.4(CDAN1):c.3534C>T (p.Ser1178=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163964	NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)	CDAN1 (C1175Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2397747	NM_138477.4(CDAN1):c.3485T>A (p.Val1162Glu)	CDAN1 (V1162E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2077800	NM_138477.4(CDAN1):c.3481C>A (p.Leu1161Met)	CDAN1 (L1161M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397663	NM_138477.4(CDAN1):c.3478G>A (p.Glu1160Lys)	CDAN1 (E1160K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439845	NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)	CDAN1 (R1159Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 262376	NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=)	CDAN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2060491	NM_138477.4(CDAN1):c.3460C>T (p.Leu1154=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347335	NM_138477.4(CDAN1):c.3451-10T>G	CDAN1	Single nucleotide variant (intron variant)	CDAN1-related disorder	GUncertain significance
Select item 1906914	NM_138477.4(CDAN1):c.3451-14G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330612	NM_138477.4(CDAN1):c.3450+17A>G	CDAN1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 262375	NM_138477.4(CDAN1):c.3450+11C>T	CDAN1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2715055	NM_138477.4(CDAN1):c.3435C>T (p.Asp1145=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688736	NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)	CDAN1 (N1139T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 3177	NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)	CDAN1 (P1130L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GPathogenic/Likely pathogenic
Select item 315920	NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1493242	NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu)	CDAN1 (P1128L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 3140754	NM_138477.4(CDAN1):c.3368A>C (p.Glu1123Ala)	CDAN1 (E1123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003972	NM_138477.4(CDAN1):c.3346A>C (p.Met1116Leu)	CDAN1 (M1116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508243	NM_138477.4(CDAN1):c.3343C>T (p.His1115Tyr)	CDAN1 (H1115Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338545	NM_138477.4(CDAN1):c.3338T>C (p.Leu1113Pro)	CDAN1 (L1113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421887	NM_138477.4(CDAN1):c.3332G>C (p.Arg1111Pro)	CDAN1 (R1111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713336	NM_138477.4(CDAN1):c.3329C>G (p.Ala1110Gly)	CDAN1 (A1110G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807009	NM_138477.4(CDAN1):c.3321A>G (p.Arg1107=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330587	NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys)	CDAN1 (E1106K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313066	NM_138477.4(CDAN1):c.3310A>G (p.Arg1104Gly)	CDAN1 (R1104G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915033	NM_138477.4(CDAN1):c.3300G>T (p.Pro1100=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761361	NM_138477.4(CDAN1):c.3300G>A (p.Pro1100=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066634	NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)	CDAN1 (P1100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2584446	NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)	CDAN1 (G1098fs)	Duplication (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
Select item 1717741	NM_138477.4(CDAN1):c.3290T>G (p.Leu1097Arg)	CDAN1 (L1097R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139646	NM_138477.4(CDAN1):c.3289C>T (p.Leu1097=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046542	NM_138477.4(CDAN1):c.3273A>C (p.Ala1091=)	CDAN1	Single nucleotide variant (synonymous variant)	CDAN1-related disorder	GLikely benign
Select item 3031302	NM_138477.4(CDAN1):c.3269-10C>T	CDAN1	Single nucleotide variant (intron variant)	CDAN1-related disorder	GLikely benign
Select item 1244766	NM_138477.4(CDAN1):c.3269-51C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023042	NM_138477.4(CDAN1):c.3268+18C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3382815	NM_138477.4(CDAN1):c.3268G>A (p.Val1090Ile)	CDAN1 (V1090I)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 885084	NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu)	CDAN1 (V1090L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885085	NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1330772	NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely benign
Select item 3380261	NM_138477.4(CDAN1):c.3245C>A (p.Ser1082Tyr)	CDAN1 (S1082Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1069028	NM_138477.4(CDAN1):c.3243C>A (p.Cys1081Ter)	CDAN1 (C1081*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2489953	NM_138477.4(CDAN1):c.3224A>C (p.Glu1075Ala)	CDAN1 (E1075A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 885086	NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser)	CDAN1 (P1073S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GUncertain significance
Select item 2894769	NM_138477.4(CDAN1):c.3205-5C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 885087	NM_138477.4(CDAN1):c.3205-5C>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 1916715	NM_138477.4(CDAN1):c.3205-14dup	CDAN1	Duplication (intron variant)	not provided	GBenign
Select item 2993112	NM_138477.4(CDAN1):c.3205-14C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965892	NM_138477.4(CDAN1):c.3205-14C>G	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990869	NM_138477.4(CDAN1):c.3205-14C>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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