C1850406[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38358	NM_002437.5(MPV17):c.509C>T (p.Ser170Phe)	MPV17 (S170F)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GPathogenic/Likely pathogenic
Select item 418311	NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	MPV17 (R154M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 694367	NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter)	MPV17 (Y136*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 16164	NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	MPV17 (W120*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely pathogenic
Select item 522373	NM_002437.5(MPV17):c.297T>A (p.Cys99Ter)	MPV17 (C99*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 38355	NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	MPV17 (P98L)	Single nucleotide variant (missense variant)	MPV17-related disorder +4 more	GPathogenic
Select item 522372	NM_002437.5(MPV17):c.284G>A (p.Gly95Asp)	MPV17 (G95D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 694362	NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)	MPV17 (Q93P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 522371	NM_002437.5(MPV17):c.275A>G (p.Asp92Gly)	MPV17 (D92G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 38350	NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del)	MPV17	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 38348	NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17 (W69*)	Single nucleotide variant (nonsense)	MPV17-related mitochondrial DNA maintenance defect +3 more	GPathogenic/Likely pathogenic
Select item 694366	NM_002437.5(MPV17):c.197T>A (p.Val66Glu)	MPV17 (V66E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 381523	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17 (P64R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 694365	NM_002437.5(MPV17):c.130C>T (p.Gln44Ter)	MPV17 (Q44*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 626263	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17 (R41Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 214660	NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)	MPV17 (R41W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 694364	NM_002437.5(MPV17):c.107A>C (p.Gln36Pro)	MPV17 (Q36P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GConflicting classifications of pathogenicity
Select item 16165	NM_002437.5(MPV17):c.70G>T (p.Gly24Trp)	MPV17 (G24W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 694361	NM_002437.5(MPV17):c.67G>C (p.Ala23Pro)	MPV17 (A23P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 694363	NM_002437.5(MPV17):c.62T>G (p.Leu21Arg)	MPV17 (L21R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance

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Items: 20