C0265245 - ClinVar

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Items: 33

	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 212156	NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)	SF3B4 (P411fs)	Deletion (frameshift variant)	Nager syndrome +4 more	GPathogenic
Select item 3068612	NM_005850.5(SF3B4):c.1235T>C (p.Val412Ala)	SF3B4 (V412A)	Single nucleotide variant (missense variant)	Nager syndrome	GUncertain significance
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 65407	NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)	SF3B4 (R336*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2435885	NM_005850.5(SF3B4):c.863A>G (p.His288Arg)	SF3B4 (H288R)	Single nucleotide variant (missense variant)	Nager syndrome +1 more	GUncertain significance
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 1027377	NM_005850.5(SF3B4):c.763_781del (p.Pro255fs)	SF3B4 (P255fs)	Deletion (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 212159	NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)	SF3B4 (P244fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 292476	NM_005850.5(SF3B4):c.735C>T (p.Pro245=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1696462	NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu)	SF3B4 (P239L)	Single nucleotide variant (missense variant)	Nager syndrome	GUncertain significance
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 2430267	NM_005850.5(SF3B4):c.417C>T (p.Gly139=)	SF3B4	Single nucleotide variant (synonymous variant)	Nager syndrome	GPathogenic
Select item 212157	NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)	SF3B4 (E65*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 1710179	NM_005850.5(SF3B4):c.152G>T (p.Gly51Val)	SF3B4 (G51V)	Single nucleotide variant (missense variant)	Nager syndrome	GUncertain significance
Select item 208841	NM_005850.5(SF3B4):c.88del (p.Trp30fs)	SF3B4 (W30fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 212158	NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs)	SF3B4 (Y16fs)	Microsatellite (frameshift variant)	Nager syndrome	GPathogenic
Select item 1323581	NM_005850.5(SF3B4):c.35-1G>A	SF3B4	Single nucleotide variant (splice acceptor variant)	Nager syndrome	GPathogenic
Select item 1065510	NM_005850.5(SF3B4):c.2T>C (p.Met1Thr)	LOC129931382, SF3B4 (M1T)	Single nucleotide variant (missense variant +1 more)	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
Select item 292490	NM_005850.4(SF3B4):c.-263dup	SF3B4	Duplication	Nager syndrome	GUncertain significance

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Items: 33