"Athena Diagnostics"[submitter] AND "FANCI"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +12 more	GBenign/Likely benign
Select item 206490	NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)	FANCI, POLG +1 more (R1234Q)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 138767	NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 805231	NM_002693.3(POLG):c.3683A>G (p.Lys1228Arg)	FANCI, POLG +1 more (K1228R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 586362	NM_002693.3(POLG):c.3662A>C (p.Tyr1221Ser)	FANCI, POLG +1 more (Y1221S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 206575	NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	POLG, POLGARF +1 more (A1217V)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 129998	NM_002693.3(POLG):c.3644-9A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
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 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign