"ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curat - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 885824	NM_002693.3(POLG):c.*420A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 317304	NM_002693.3(POLG):c.*122G>A	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 886829	NM_002693.3(POLG):c.*100G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619496	NM_002693.3(POLG):c.3643+48A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 597808	NM_002693.3(POLG):c.3643+2T>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 21315	NM_002693.3(POLG):c.3630dup (p.Gly1211fs)	POLG, POLGARF (G1211fs)	Duplication (frameshift variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 285869	NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	POLG, POLGARF (G1205fs)	Duplication (frameshift variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 138766	NM_002693.3(POLG):c.3597C>A (p.Thr1199=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 426681	NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)	POLG, POLGARF (K1191N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 619340	NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg)	POLG, POLGARF (K1191R)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 129997	NM_002693.3(POLG):c.3561G>C (p.Arg1187=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 426100	NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	POLGARF, POLG (D1184N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 566733	NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter)	POLG, POLGARF (Q1175*)	Single nucleotide variant (nonsense)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 138764	NM_002693.3(POLG):c.3483-14T>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619494	NM_002693.3(POLG):c.3483-41A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 677628	NM_002693.3(POLG):c.3483-164A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 378418	NM_002693.3(POLG):c.3451C>T (p.Leu1151=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 391039	NM_002693.3(POLG):c.3405C>T (p.Asp1135=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 206560	NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro)	POLG, POLGARF (A1105P)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 138759	NM_002693.3(POLG):c.3294T>C (p.Asn1098=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 129995	NM_002693.3(POLG):c.3293A>C (p.Asn1098Thr)	POLGARF, POLG (N1098T)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG, POLGARF (R1096C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 206553	NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr)	POLG, POLGARF (S1080T)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 129991	NM_002693.3(POLG):c.2254C>T (p.Leu752=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 21310	NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)	POLG, POLGARF (E662K)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 21309	NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)	POLG, POLGARF (R546C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 667951	NM_002693.3(POLG):c.1250+188A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 21318	NM_002693.3(POLG):c.578G>A (p.Arg193Gln)	POLG, POLGARF (R193Q)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 206487	NM_002693.3(POLG):c.162G>A (p.Gln54=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database

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Items: 30