ClinVar for MedGen (Select 82891) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 994155	NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp)	CDAN1 (R864W)	Single nucleotide variant (missense variant)	not provided +2 more	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 993509	NM_138477.4(CDAN1):c.527A>T (p.Glu176Val)	CDAN1 (E176V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988594	NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His)	CDAN1 (R1067H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888410	NM_138477.4(CDAN1):c.333C>T (p.Ala111=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 888409	NM_138477.4(CDAN1):c.392G>A (p.Arg131His)	LOC130056931, CDAN1 (R131H)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
Select item 888408	NM_138477.4(CDAN1):c.569+9C>G	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 888407	NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn)	CDAN1 (S234N)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 888350	NM_138477.4(CDAN1):c.2007+10C>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 888349	NM_138477.4(CDAN1):c.2008-15C>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 888273	NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys)	CDAN1 (R863C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 888272	NM_138477.4(CDAN1):c.2605G>A (p.Val869Met)	CDAN1 (V869M)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 888271	NM_138477.4(CDAN1):c.2662G>C (p.Asp888His)	CDAN1 (D888H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888270	NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg)	CDAN1 (G909R)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 887150	NM_138477.4(CDAN1):c.943+4A>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 887149	NM_138477.4(CDAN1):c.982G>A (p.Val328Ile)	CDAN1 (V328I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 887148	NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln)	CDAN1 (R335Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887077	NM_138477.4(CDAN1):c.2073C>T (p.Leu691=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 887076	NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser)	CDAN1 (P694S)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 887075	NM_138477.4(CDAN1):c.2088G>A (p.Leu696=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887074	NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys)	CDAN1 (R722C)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GConflicting classifications of pathogenicity
Select item 887073	NM_138477.4(CDAN1):c.2174+11C>T	CDAN1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887072	NM_138477.4(CDAN1):c.2262+10G>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 887008	NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg)	CDAN1 (G926R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887007	NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln)	CDAN1 (R934Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 887006	NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln)	CDAN1 (R946Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 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 886208	NM_138477.4(CDAN1):c.-8C>T	CDAN1, LOC130056933	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia, type I	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
Select item 886206	NM_138477.4(CDAN1):c.188G>A (p.Arg63His)	CDAN1 (R63H)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GConflicting classifications of pathogenicity
Select item 886138	NM_138477.4(CDAN1):c.1203C>T (p.Phe401=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 886137	NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp)	CDAN1 (E414D)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 886136	NM_138477.4(CDAN1):c.1368-15G>A	CDAN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 886135	NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu)	CDAN1 (P528L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 886071	NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val)	CDAN1 (A787V)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +3 more	GConflicting classifications of pathogenicity
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 886001	NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)	CDAN1 (D1045E)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 885304	NM_138477.4(CDAN1):c.201G>T (p.Gln67His)	CDAN1 (Q67H)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885303	NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu)	CDAN1, LOC130056931 (P86L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885302	NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg)	CDAN1, LOC130056931 (G92R)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885301	NM_138477.4(CDAN1):c.324C>T (p.Ser108=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885243	NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly)	CDAN1 (E597G)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	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 885241	NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu)	CDAN1 (F639L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
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 885164	NM_138477.4(CDAN1):c.2439G>A (p.Val813=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885163	NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser)	CDAN1 (G822S)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885162	NM_138477.4(CDAN1):c.2541+14G>A	CDAN1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885089	NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 885087	NM_138477.4(CDAN1):c.3205-5C>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	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 885085	NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 807554	NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu)	CDAN1 (A689E)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GLikely pathogenic
Select item 776880	NM_138477.4(CDAN1):c.2067G>A (p.Ala689=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 774940	NM_138477.4(CDAN1):c.2743T>C (p.Leu915=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 760990	NM_138477.4(CDAN1):c.2263-8C>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 750583	NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 749588	NM_138477.4(CDAN1):c.2947+9C>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 747338	NM_138477.4(CDAN1):c.1368-6C>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 737334	NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys)	CDAN1 (E356K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 726722	NM_138477.4(CDAN1):c.2542-4C>G	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 709476	NM_138477.4(CDAN1):c.2263-5G>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 632233	NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp)	CDAN1 (R725W)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 632232	NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter)	CDAN1 (Q847*)	Single nucleotide variant (nonsense)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 632231	NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs)	CDAN1 (V866fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 315959	NM_138477.4(CDAN1):c.-14G>A	CDAN1, LOC130056933	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 315958	NM_138477.4(CDAN1):c.-4C>G	CDAN1, LOC130056933	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315957	NM_138477.4(CDAN1):c.57G>C (p.Val19=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315956	NM_138477.4(CDAN1):c.157C>T (p.Leu53=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GBenign/Likely benign
Select item 315955	NM_138477.4(CDAN1):c.237G>C (p.Ser79=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +2 more	GBenign/Likely benign
Select item 315954	NM_138477.4(CDAN1):c.255G>A (p.Arg85=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315953	NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser)	CDAN1, LOC130056931 (P86S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GConflicting classifications of pathogenicity
Select item 315952	NM_138477.4(CDAN1):c.773+14G>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GBenign/Likely benign
Select item 315951	NM_138477.4(CDAN1):c.774-3T>C	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315950	NM_138477.4(CDAN1):c.1058-11T>G	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 315949	NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val)	CDAN1 (A441V)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315947	NM_138477.4(CDAN1):c.1524A>G (p.Gln508=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +1 more	GBenign/Likely benign
Select item 315946	NM_138477.4(CDAN1):c.1740-10T>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315945	NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly)	CDAN1 (D589G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 315944	NM_138477.4(CDAN1):c.1839G>A (p.Gly613=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315943	NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)	CDAN1 (T656S)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +2 more	GLikely benign
Select item 315942	NM_138477.4(CDAN1):c.1968C>T (p.Thr656=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GBenign
Select item 315941	NM_138477.4(CDAN1):c.2007+11G>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315940	NM_138477.4(CDAN1):c.2008-8C>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 315939	NM_138477.4(CDAN1):c.2016G>A (p.Pro672=)	CDAN1	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GConflicting classifications of pathogenicity
Select item 315938	NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)	CDAN1 (R687C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GBenign/Likely benign

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