ClinVar for MedGen (Select 1807106) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2720067	NM_138477.4(CDAN1):c.1740-6_1740-4del	CDAN1	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2690562	NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)	CDAN1 (I802fs)	Duplication (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
Select item 2690561	NM_138477.4(CDAN1):c.230del (p.Gly77fs)	CDAN1, LOC130056931 (G77fs)	Deletion (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
Select item 2688749	NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)	CDAN1 (S297Y)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688748	NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)	CDAN1 (A965S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688747	NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)	CDAN1 (S555G)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2688746	NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)	CDAN1 (E1009G)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688745	NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)	CDAN1 (D529E)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688744	NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)	CDAN1 (A536P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2688742	NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)	CDAN1 (S1036P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2688739	NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)	CDAN1 (Q264P)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2688738	NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)	CDAN1 (R682Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2688737	NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)	CDAN1 (R687H)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
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 2688735	NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)	CDAN1 (T26I)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688734	NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)	CDAN1 (R1010G)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688733	NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)	CDAN1 (A992V)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2688732	NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)	CDAN1 (N786S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2688731	NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)	CDAN1 (K74N)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2683288	NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)	CDAN1 (E1046K)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2627670	NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)	CDAN1 (L729V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627476	NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)	CDAN1, LOC130056932 (L45P)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2585182	NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)	CDAN1 (R295fs)	Microsatellite (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
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 2443473	NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)	CDAN1 (L762S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2439851	NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)	CDAN1 (E394K)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439850	NM_138477.4(CDAN1):c.2645+2dup	CDAN1	Duplication (splice donor variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439849	NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)	CDAN1 (V380L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439848	NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)	CDAN1, LOC130056931 (G155S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439847	NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439846	NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)	CDAN1 (S183L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2439844	NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)	CDAN1 (E607K)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439843	NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)	CDAN1 (G1040E)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2439842	NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)	CDAN1 (T884P)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2439841	NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)	CDAN1 (A983P)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439840	NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)	CDAN1 (A810T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439839	NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)	CDAN1, LOC130056931 (T165M)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2439837	NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)	CDAN1 (R688W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GConflicting classifications of pathogenicity
Select item 2439836	NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)	CDAN1 (R891H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439835	NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)	CDAN1 (P561S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439834	NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)	CDAN1 (P268R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439833	NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)	CDAN1 (E30Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439831	NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)	CDAN1 (A999T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439830	NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)	CDAN1 (P954L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2439829	NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)	CDAN1 (K260R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439828	NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)	CDAN1 (S483N)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439827	NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)	CDAN1 (R995L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439826	NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)	CDAN1 (S592N)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439825	NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)	CDAN1 (N980S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439824	NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)	CDAN1 (R282W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439823	NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)	CDAN1 (R447Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439822	NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)	CDAN1 (R1067C)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2438921	NM_138477.4(CDAN1):c.788del (p.Gln263fs)	CDAN1 (Q263fs)	Deletion (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
Select item 2428707	NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GLikely benign
Select item 2428686	NM_138477.4(CDAN1):c.2353-18C>A	CDAN1	Single nucleotide variant (intron variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GLikely benign
Select item 2428620	NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GLikely benign
Select item 2397768	NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)	CDAN1 (G187S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2397713	NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)	CDAN1 (L862S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2184700	NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)	CDAN1 (P76A)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
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 2056117	NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)	CDAN1 (E732K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2054884	NM_138477.4(CDAN1):c.804C>A (p.Pro268=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GBenign/Likely benign
Select item 2006670	NM_138477.4(CDAN1):c.639C>G (p.Thr213=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1962287	NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)	CDAN1 (R572T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 1943051	NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)	CDAN1 (N963D)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 1907800	NM_138477.4(CDAN1):c.375G>A (p.Pro125=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1805676	NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)	CDAN1 (A887V)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1805675	NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)	CDAN1 (M588T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1803268	NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)	CDAN1 (P186R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1707540	NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)	CDAN1 (D704N)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1707539	NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)	CDAN1 (R677W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 1703721	NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)	CDAN1 (L696Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GPathogenic
Select item 1679451	NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn)	CDAN1, LOC130056931 (S93N)	Indel (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 1679441	NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg)	CDAN1 (T283R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1675159	NM_138477.4(CDAN1):c.2868+4C>T	CDAN1	Single nucleotide variant (intron variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1657090	NM_138477.4(CDAN1):c.114G>A (p.Ala38=)	CDAN1, LOC130056932	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GLikely benign
Select item 1516232	NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)	CDAN1 (R934W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1428716	NM_138477.4(CDAN1):c.2542-3C>G	CDAN1	Single nucleotide variant (intron variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 1331046	NM_138477.4(CDAN1):c.2937C>T (p.Ala979=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GLikely benign
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 1330684	NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp)	CDAN1 (R503W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1330675	NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser)	CDAN1 (N609S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 1330653	NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu)	CDAN1 (V945L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1330587	NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys)	CDAN1 (E1106K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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