"ITMI"[submitter] AND "FANCG"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134362	NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)	FANCG (K618fs)	Deletion (frameshift variant)	Fanconi anemia +3 more	GUncertain significance
Select item 134361	NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	FANCG, VCP (R513Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 134359	NM_004629.2(FANCG):c.1366del (p.His456fs)	FANCG (H456fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 134360	NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)	FANCG (P386R)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 134370	NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)	FANCG, VCP (S378L)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 134369	NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)	FANCG (P330S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 134367	NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)	VCP, FANCG (T297I)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +5 more	GBenign/Likely benign
Select item 134368	NM_004629.2(FANCG):c.863G>T (p.Arg288Met)	FANCG (R288M)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134366	NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)	FANCG, VCP (R214C)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 134365	NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)	FANCG (W122C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +2 more	GConflicting classifications of pathogenicity
Select item 134364	NM_004629.2(FANCG):c.196G>A (p.Val66Ile)	FANCG (V66I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134363	NM_004629.2(FANCG):c.176G>A (p.Gly59Glu)	FANCG (G59E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 134357	NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)	FANCG (Q26R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 134358	NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)	FANCG (S7F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 135544	NM_004629.2(FANCG):c.-1C>T	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance