"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CDAN1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3380261	NM_138477.4(CDAN1):c.3245C>A (p.Ser1082Tyr)	CDAN1 (S1082Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315921	NM_138477.4(CDAN1):c.3204+5G>A	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +2 more	GConflicting classifications of pathogenicity
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 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 21750	NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val)	CDAN1 (D1043V)	Single nucleotide variant (missense variant)	not provided +1 more	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 1693635	NM_138477.4(CDAN1):c.3107C>T (p.Ser1036Phe)	CDAN1 (S1036F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163965	NM_138477.4(CDAN1):c.2983C>T (p.Arg995Cys)	CDAN1 (R995C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683290	NM_138477.4(CDAN1):c.2917G>T (p.Ala973Ser)	CDAN1 (A973S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163966	NM_138477.4(CDAN1):c.2864_2868+4dup	CDAN1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 315927	NM_138477.4(CDAN1):c.2868C>T (p.Ala956=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
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 3380263	NM_138477.4(CDAN1):c.2751C>G (p.Ile917Met)	CDAN1 (I917M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995638	NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val)	CDAN1 (A912V)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GConflicting classifications of pathogenicity
Select item 3381125	NM_138477.4(CDAN1):c.2650_2654dup (p.Val886fs)	CDAN1 (V886fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 432604	NM_138477.4(CDAN1):c.2491A>C (p.Thr831Pro)	CDAN1 (T831P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698131	NM_138477.4(CDAN1):c.2432C>T (p.Ser811Leu)	CDAN1 (S811L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 1163967	NM_138477.4(CDAN1):c.2175-12T>C	CDAN1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 21748	NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)	CDAN1 (R714W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1693636	NM_138477.4(CDAN1):c.1867C>T (p.Arg623Trp)	CDAN1 (R623W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693637	NM_138477.4(CDAN1):c.1860+25A>G	CDAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683291	NM_138477.4(CDAN1):c.1706G>A (p.Gly569Asp)	CDAN1 (G569D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994288	NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg)	CDAN1 (G569R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 993980	NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr)	CDAN1 (M550T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	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 2683292	NM_138477.4(CDAN1):c.1368-8T>G	CDAN1	Single nucleotide variant (intron variant)	not provided	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 887148	NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln)	CDAN1 (R335Q)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	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 2683790	NM_138477.4(CDAN1):c.943+26_943+41delinsC	CDAN1	Indel (intron variant)	not provided	GUncertain significance
Select item 3380265	NM_138477.4(CDAN1):c.943+6T>A	CDAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1163375	NM_138477.4(CDAN1):c.553C>T (p.Pro185Ser)	CDAN1 (P185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993509	NM_138477.4(CDAN1):c.527A>T (p.Glu176Val)	CDAN1 (E176V)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +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 2683293	NM_138477.4(CDAN1):c.446G>A (p.Gly149Glu)	CDAN1, LOC130056931 (G149E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693638	NM_138477.4(CDAN1):c.442G>A (p.Ala148Thr)	CDAN1, LOC130056931 (A148T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683294	NM_138477.4(CDAN1):c.287C>T (p.Ala96Val)	CDAN1, LOC130056931 (A96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683295	NM_138477.4(CDAN1):c.190G>A (p.Val64Ile)	CDAN1 (V64I)	Single nucleotide variant (missense variant)	not provided	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)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47