C0265245[trait identifier] AND "Clinical Genetics Research Group, Univ - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208827	NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)	SF3B4 (L418fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208828	NM_005850.5(SF3B4):c.1232del (p.Pro411fs)	SF3B4 (P411fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208829	NM_005850.5(SF3B4):c.1199del (p.Pro400fs)	SF3B4 (P400fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208830	NM_005850.5(SF3B4):c.1148dup (p.His383fs)	SF3B4 (H383fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 31651	NM_005850.5(SF3B4):c.1147dup (p.His383fs)	SF3B4 (H383fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 31652	NM_005850.5(SF3B4):c.1147del (p.His383fs)	SF3B4 (H383fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 208831	NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)	SF3B4 (R354fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 31653	NM_005850.5(SF3B4):c.913+1G>A	SF3B4	Single nucleotide variant (splice donor variant)	Nager syndrome	GPathogenic
Select item 208833	NM_005850.5(SF3B4):c.864del (p.His288fs)	SF3B4 (H288fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208834	NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs)	SF3B4 (T280fs)	Insertion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208835	NM_005850.5(SF3B4):c.827dup (p.Ser277fs)	SF3B4 (S277fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208836	NM_005850.5(SF3B4):c.796dup (p.Met266fs)	SF3B4 (M266fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208837	NM_005850.5(SF3B4):c.769del (p.Ile257fs)	SF3B4 (I257fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208838	NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs)	SF3B4 (N222fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208839	NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter)	SF3B4 (Q209*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 208840	NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter)	SF3B4 (S151*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 208841	NM_005850.5(SF3B4):c.88del (p.Trp30fs)	SF3B4 (W30fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 31650	NM_005850.5(SF3B4):c.1A>G (p.Met1Val)	LOC129931382, SF3B4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic