"Revvity Omics, Revvity"[submitter] AND "CDAN1"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1163964	NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)	CDAN1 (C1175Y)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +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 2688736	NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)	CDAN1 (N1139T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3177	NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)	CDAN1 (P1130L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1493242	NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu)	CDAN1 (P1128L)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 885088	NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met)	CDAN1 (T1063M)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	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 886001	NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)	CDAN1 (D1045E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 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 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 886002	NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp)	CDAN1 (R1007W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	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 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 315924	NM_138477.4(CDAN1):c.2984G>A (p.Arg995His)	CDAN1 (R995H)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	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 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 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 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 1943051	NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)	CDAN1 (N963D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439830	NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)	CDAN1 (P954L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1322044	NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)	CDAN1 (E951fs)	Microsatellite (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GPathogenic
Select item 1516232	NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)	CDAN1 (R934W)	Single nucleotide variant (missense variant)	CDAN1-related condition +3 more	GUncertain significance
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 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 2439850	NM_138477.4(CDAN1):c.2645+2dup	CDAN1	Duplication (splice donor variant)	Anemia, congenital dyserythropoietic, type 1a	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 315931	NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu)	CDAN1 (P859L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
Select item 1428716	NM_138477.4(CDAN1):c.2542-3C>G	CDAN1	Single nucleotide variant (intron variant)	not provided +1 more	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 2690562	NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)	CDAN1 (I802fs)	Duplication (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
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 2443473	NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)	CDAN1 (L762S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 315937	NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg)	CDAN1 (S733R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2056117	NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)	CDAN1 (E732K)	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 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 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 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 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 3179	NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	CDAN1 (P672L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GPathogenic/Likely pathogenic
Select item 885240	NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu)	CDAN1 (P655L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 885242	NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser)	CDAN1 (P608S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	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 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 1805675	NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)	CDAN1 (M588T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
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 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 2688747	NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)	CDAN1 (S555G)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 1163374	NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala)	CDAN1 (P425A)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 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 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 1322045	NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs)	CDAN1 (L352fs)	Deletion (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GPathogenic
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 994129	NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln)	CDAN1 (R282Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	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 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 2688739	NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)	CDAN1 (Q264P)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 2439846	NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)	CDAN1 (S183L)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 2690561	NM_138477.4(CDAN1):c.230del (p.Gly77fs)	CDAN1, LOC130056931 (G77fs)	Deletion (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
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 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 1163376	NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys)	CDAN1 (R63C)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GUncertain significance
Select item 21746	NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)	CDAN1 (F52L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GPathogenic/Likely pathogenic
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 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 886207	NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln)	CDAN1, LOC130056933 (R10Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance

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Items: 81