"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RIF1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552340	NM_001164508.2(NEB):c.25297+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +2 more	GLikely pathogenic
Select item 571908	NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)	RIF1, NEB (I8437V +2 more)	Inversion (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 451684	NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)	NEB, RIF1 (R8430* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 566656	NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	NEB, RIF1 (R8426Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 816837	NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	NEB, RIF1 (R6474* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic
Select item 664594	NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	NEB, RIF1 (R8217H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 521691	NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 496135	NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	NEB, RIF1 (R8187* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 533968	NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	RIF1, NEB (P8114fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 1458223	NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)	NEB, RIF1 (H8062fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 279977	NM_001164508.2(NEB):c.24114+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1379855	NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GUncertain significance
Select item 554466	NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)	NEB, RIF1 (E8069fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 373977	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	NEB, RIF1 (R8032* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 2 +6 more	GPathogenic/Likely pathogenic
Select item 581867	NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)	NEB, RIF1 (E8031K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129733	NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)	RIF1, NEB (T7867I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GBenign/Likely benign
Select item 566369	NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)	NEB, RIF1 (I7516V +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 1515037	NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser)	NEB, RIF1 (F5693S +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 578209	NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	NEB, RIF1 (Y7425* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 991197	NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp)	NEB, RIF1 (R5672W +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 534023	NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)	NEB, RIF1 (V7367I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 581166	NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)	NEB, RIF1 (K7359Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1499881	NM_001164508.2(NEB):c.21840T>C (p.Asp7280=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance

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Items: 23