ClinVar for Gene (Select 146059) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381125	NM_138477.4(CDAN1):c.2650_2654dup (p.Val886fs)	CDAN1 (V886fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3380265	NM_138477.4(CDAN1):c.943+6T>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380264	NM_138477.4(CDAN1):c.1369G>A (p.Asp457Asn)	CDAN1 (D457N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380263	NM_138477.4(CDAN1):c.2751C>G (p.Ile917Met)	CDAN1 (I917M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380262	NM_138477.4(CDAN1):c.3193C>T (p.Arg1065Trp)	CDAN1 (R1065W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3375593	NM_138477.4(CDAN1):c.2579CCT[1] (p.Ser861del)	CDAN1 (S861del)	Microsatellite	not provided	GUncertain significance
Select item 3366748	NM_138477.4(CDAN1):c.2650A>G (p.Thr884Ala)	CDAN1 (T884A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347335	NM_138477.4(CDAN1):c.3451-10T>G	CDAN1	Single nucleotide variant (intron variant)	CDAN1-related disorder	GUncertain significance
Select item 3346804	NM_138477.4(CDAN1):c.3184dup (p.Gln1062fs)	CDAN1 (Q1062fs)	Duplication (frameshift variant)	CDAN1-related disorder	GLikely pathogenic
Select item 3341956	NM_138477.4(CDAN1):c.1057+2T>C	CDAN1	Single nucleotide variant (splice donor 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 3336312	NM_138477.4(CDAN1):c.1189C>T (p.Arg397Trp)	CDAN1 (R397W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336216	NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)	CDAN1 (P51L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GLikely pathogenic
Select item 3264923	NM_138477.4(CDAN1):c.3010C>T (p.Pro1004Ser)	CDAN1 (P1004S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264922	NM_138477.4(CDAN1):c.1046C>T (p.Pro349Leu)	CDAN1 (P349L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264921	NM_138477.4(CDAN1):c.337G>A (p.Ala113Thr)	CDAN1, LOC130056931 (A113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264920	NM_138477.4(CDAN1):c.1795A>G (p.Asn599Asp)	CDAN1 (N599D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3264918	NM_138477.4(CDAN1):c.2344C>T (p.His782Tyr)	CDAN1 (H782Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264917	NM_138477.4(CDAN1):c.229G>A (p.Gly77Ser)	CDAN1, LOC130056931 (G77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140756	NM_138477.4(CDAN1):c.979T>G (p.Phe327Val)	CDAN1 (F327V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140755	NM_138477.4(CDAN1):c.703C>A (p.Pro235Thr)	CDAN1 (P235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3140752	NM_138477.4(CDAN1):c.3035G>A (p.Gly1012Asp)	CDAN1 (G1012D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140751	NM_138477.4(CDAN1):c.2921G>T (p.Cys974Phe)	CDAN1 (C974F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140750	NM_138477.4(CDAN1):c.2624C>T (p.Ser875Leu)	CDAN1 (S875L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140749	NM_138477.4(CDAN1):c.2579C>T (p.Pro860Leu)	CDAN1 (P860L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140748	NM_138477.4(CDAN1):c.2356A>C (p.Asn786His)	CDAN1 (N786H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140747	NM_138477.4(CDAN1):c.2338C>T (p.Pro780Ser)	CDAN1 (P780S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140746	NM_138477.4(CDAN1):c.2318T>C (p.Phe773Ser)	CDAN1 (F773S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140744	NM_138477.4(CDAN1):c.1827T>A (p.Asn609Lys)	CDAN1 (N609K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140743	NM_138477.4(CDAN1):c.1595G>A (p.Ser532Asn)	CDAN1 (S532N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140742	NM_138477.4(CDAN1):c.1480G>A (p.Ala494Thr)	CDAN1 (A494T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140741	NM_138477.4(CDAN1):c.1318C>T (p.Arg440Cys)	CDAN1 (R440C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3054438	NM_138477.4(CDAN1):c.1821G>A (p.Glu607=)	CDAN1	Single nucleotide variant (synonymous variant)	CDAN1-related disorder	GLikely benign
Select item 3052921	NM_138477.4(CDAN1):c.3147C>A (p.Ser1049=)	CDAN1	Single nucleotide variant (synonymous variant)	CDAN1-related disorder	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 3048338	NM_138477.4(CDAN1):c.3591T>C (p.Asn1197=)	CDAN1	Single nucleotide variant (synonymous variant)	CDAN1-related disorder	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 3042601	NM_138477.4(CDAN1):c.2805-3T>C	CDAN1	Single nucleotide variant (intron 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 3031202	NM_138477.4(CDAN1):c.2263-6dup	CDAN1	Duplication (intron variant)	CDAN1-related disorder	GLikely benign
Select item 3023290	NM_138477.4(CDAN1):c.2805-15T>C	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023042	NM_138477.4(CDAN1):c.3268+18C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020093	NM_138477.4(CDAN1):c.2352+17C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016478	NM_138477.4(CDAN1):c.1936C>T (p.Leu646=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008458	NM_138477.4(CDAN1):c.426G>A (p.Gly142=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002409	NM_138477.4(CDAN1):c.1258-18G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002320	NM_138477.4(CDAN1):c.802C>T (p.Pro268Ser)	CDAN1 (P268S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999103	NM_138477.4(CDAN1):c.1926T>C (p.Phe642=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994000	NM_138477.4(CDAN1):c.408G>A (p.Leu136=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993332	NM_138477.4(CDAN1):c.2646-11C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993112	NM_138477.4(CDAN1):c.3205-14C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990111	NM_138477.4(CDAN1):c.189C>T (p.Arg63=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990054	NM_138477.4(CDAN1):c.18G>A (p.Glu6=)	CDAN1, LOC130056933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988531	NM_138477.4(CDAN1):c.90+7G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988155	NM_138477.4(CDAN1):c.915A>G (p.Val305=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987743	NM_138477.4(CDAN1):c.2103C>T (p.Ser701=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987575	NM_138477.4(CDAN1):c.2407+18C>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986624	NM_138477.4(CDAN1):c.1176G>A (p.Leu392=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985770	NM_138477.4(CDAN1):c.3097-20T>C	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984934	NM_138477.4(CDAN1):c.1728T>C (p.Leu576=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982548	NM_138477.4(CDAN1):c.1695A>T (p.Pro565=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982375	NM_138477.4(CDAN1):c.2598A>G (p.Val866=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980090	NM_138477.4(CDAN1):c.2238T>C (p.Leu746=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977875	NM_138477.4(CDAN1):c.336G>A (p.Glu112=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977087	NM_138477.4(CDAN1):c.1614G>A (p.Lys538=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973464	NM_138477.4(CDAN1):c.705T>C (p.Pro235=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971329	NM_138477.4(CDAN1):c.90+7G>C	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970909	NM_138477.4(CDAN1):c.2542-4C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967372	NM_138477.4(CDAN1):c.1566C>T (p.Thr522=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966776	NM_138477.4(CDAN1):c.2407+16C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966605	NM_138477.4(CDAN1):c.78C>G (p.Thr26=)	CDAN1	Single nucleotide variant (synonymous 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 2963814	NM_138477.4(CDAN1):c.498G>A (p.Leu166=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963461	NM_138477.4(CDAN1):c.570-18T>C	CDAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2961837	NM_138477.4(CDAN1):c.1533+19G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961244	NM_138477.4(CDAN1):c.28C>A (p.Arg10=)	CDAN1, LOC130056933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959692	NM_138477.4(CDAN1):c.2678C>T (p.Ala893Val)	CDAN1 (A893V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957732	NM_138477.4(CDAN1):c.943+13G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956430	NM_138477.4(CDAN1):c.2352+18G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921198	NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)	CDAN1 (V462M)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2921161	NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)	CDAN1 (A230T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2921080	NM_138477.4(CDAN1):c.3097-26_3097-20del	CDAN1	Deletion (intron variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely benign
Select item 2921038	NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)	CDAN1, LOC130056931 (E105K)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2920943	NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)	CDAN1	Deletion (nonsense)	Anemia, congenital dyserythropoietic, type 1a	GPathogenic
Select item 2920867	NM_138477.4(CDAN1):c.1596dup (p.Met533fs)	CDAN1 (M533fs)	Duplication (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GPathogenic
Select item 2920851	NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)	CDAN1 (L729S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2920850	NM_138477.4(CDAN1):c.1740-20C>T	CDAN1	Single nucleotide variant (intron variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely benign
Select item 2919726	NM_138477.4(CDAN1):c.1965G>A (p.Pro655=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916985	NM_138477.4(CDAN1):c.327C>G (p.Thr109=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912935	NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)	CDAN1 (E935G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2906060	NM_138477.4(CDAN1):c.3087C>T (p.Ser1029=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904905	NM_138477.4(CDAN1):c.1032C>T (p.Asp344=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902082	NM_138477.4(CDAN1):c.2124C>T (p.Pro708=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894769	NM_138477.4(CDAN1):c.3205-5C>T	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894710	NM_138477.4(CDAN1):c.3099C>T (p.Asp1033=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894343	NM_138477.4(CDAN1):c.3096+7G>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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