ClinVar for MedGen (Select 376565) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1656226	NM_015713.5(RRM2B):c.322-7T>C	RRM2B	Single nucleotide variant (intron variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GLikely benign
Select item 1566332	NM_015713.5(RRM2B):c.534T>C (p.Asp178=)	RRM2B	Single nucleotide variant (synonymous variant)	RRM2B-related condition +4 more	GLikely benign
Select item 1524868	NM_015713.5(RRM2B):c.455+1G>A	RRM2B	Single nucleotide variant (splice donor variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GLikely pathogenic
Select item 1421637	NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys)	RRM2B (R252K +2 more)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more	GUncertain significance
Select item 1310777	NM_015713.5(RRM2B):c.613A>G (p.Ile205Val)	RRM2B (I153V +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a +3 more	GUncertain significance
Select item 1300720	NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn)	RRM2B (K158N +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a +3 more	GUncertain significance
Select item 1256971	NM_015713.5(RRM2B):c.48+48C>T	RRM2B (P15L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 8a +4 more	GBenign/Likely benign
Select item 1214977	NM_015713.5(RRM2B):c.48+156G>A	RRM2B (R51Q)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more	GUncertain significance
Select item 1163492	NM_015713.5(RRM2B):c.119G>A (p.Arg40His)	RRM2B (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GUncertain significance
Select item 977276	NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)	RRM2B (E210D +2 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 805273	NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser)	RRM2B (N229S +2 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GUncertain significance
Select item 670090	NM_015713.5(RRM2B):c.551-18C>T	RRM2B	Single nucleotide variant (intron variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GBenign/Likely benign
Select item 513597	NM_015713.5(RRM2B):c.685-20A>T	RRM2B	Single nucleotide variant (intron variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +4 more	GBenign/Likely benign
Select item 377148	NM_015713.5(RRM2B):c.48+273G>T	RRM2B	Single nucleotide variant (intron variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +4 more	GBenign/Likely benign
Select item 361173	NM_015713.5(RRM2B):c.*74del	RRM2B	Deletion (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +4 more	GUncertain significance
Select item 215097	NM_015713.5(RRM2B):c.48+188del	RRM2B (E62fs)	Deletion (frameshift variant +1 more)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GUncertain significance
Select item 215096	NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg)	RRM2B (Q120R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 138930	NM_015713.5(RRM2B):c.790-8C>A	RRM2B	Single nucleotide variant (intron variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +4 more	GBenign/Likely benign
Select item 138928	NM_015713.5(RRM2B):c.48+265C>G	RRM2B	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 8a +4 more	GBenign/Likely benign
Select item 132122	NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)	RRM2B (I296S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 132112	NM_015713.5(RRM2B):c.328C>T (p.Arg110Cys)	RRM2B (R182C +1 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +1 more	GLikely pathogenic
Select item 132109	NM_015713.5(RRM2B):c.253_255del (p.Glu85del)	RRM2B (E157del +2 more)	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 132103	NM_015713.5(RRM2B):c.48G>A (p.Glu16=)	LOC130000896, RRM2B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 23