C3469527[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259477	NM_004629.2(FANCG):c.1636+7A>G	FANCG, VCP	Single nucleotide variant (intron variant)	Fanconi anemia complementation group G +5 more	GBenign
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 1098853	NM_004629.2(FANCG):c.1287C>T (p.Pro429=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1199306	NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys)	FANCG (R359K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G	GUncertain significance
Select item 1210407	NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter)	FANCG (Q343*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 1210408	NM_004629.2(FANCG):c.842del (p.Pro281fs)	FANCG (P281fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G	GLikely pathogenic
Select item 221037	NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)	FANCG (P241L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1177023	NM_004629.2(FANCG):c.646+58C>T	FANCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259478	NM_004629.2(FANCG):c.511-45A>G	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia complementation group G +2 more	GBenign
Select item 1177024	NM_004629.2(FANCG):c.84+77C>A	FANCG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1199305	NM_004629.2(FANCG):c.-7G>A	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GLikely benign
Select item 1199307	NM_004629.2(FANCG):c.-19G>A	FANCG	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group G	GUncertain significance