ClinVar for MedGen (Select 934643) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1308141	NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser)	SLC25A4 (R111S)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +3 more	GUncertain significance
Select item 1033744	NM_001151.4(SLC25A4):c.874G>C (p.Asp292His)	SLC25A4 (D292H)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	GUncertain significance
Select item 902981	NM_001151.4(SLC25A4):c.*2475C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902161	NM_001151.4(SLC25A4):c.*3317G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902159	NM_001151.4(SLC25A4):c.*3229A>G	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902158	NM_001151.4(SLC25A4):c.*3195T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 902042	NM_001151.4(SLC25A4):c.-65C>T	LOC129993501, SLC25A4	Single nucleotide variant (5 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 901524	NM_001151.4(SLC25A4):c.*994G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +2 more	GUncertain significance
Select item 900427	NM_001151.4(SLC25A4):c.*2616C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 900372	NM_001151.4(SLC25A4):c.*151T>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 704300	NM_001151.4(SLC25A4):c.252C>T (p.Thr84=)	SLC25A4	Single nucleotide variant (synonymous variant)	SLC25A4-related condition +4 more	GLikely benign
Select item 635018	NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly)	SLC25A4 (R80G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	GLikely pathogenic
Select item 402541	NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)	CLCNKB, LOC106501713 (C626Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 348286	NM_001151.4(SLC25A4):c.*3277G>A	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348285	NM_001151.4(SLC25A4):c.*3276C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348281	NM_001151.4(SLC25A4):c.*2824G>C	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348277	NM_001151.4(SLC25A4):c.*2592C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348264	NM_001151.4(SLC25A4):c.*1163G>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 348258	NM_001151.4(SLC25A4):c.*824C>T	SLC25A4	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GUncertain significance
Select item 253038	NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly)	SLC25A4 (R235G)	Single nucleotide variant (missense variant)	Mitochondrial disease +1 more	GPathogenic
Select item 253037	NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)	SLC25A4 (R80H)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GPathogenic
Select item 215173	NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met)	SLC25A4 (T252M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +3 more	GUncertain significance
Select item 16638	NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	EDNRB, EDNRB-AS1 (S305N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 23