"GeneDx"[submitter] AND "FANCG"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316114	NM_004629.2(FANCG):c.1838G>A (p.Arg613Gln)	FANCG (R613Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6718	NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)	FANCG (W599fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1004290	NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)	FANCG (R573M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1452290	NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)	FANCG (Y551fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group G +2 more	GPathogenic/Likely pathogenic
Select item 574728	NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)	FANCG (R548*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +2 more	GPathogenic
Select item 366732	NM_004629.2(FANCG):c.1638T>C (p.Gly546=)	FANCG, VCP	Single nucleotide variant (synonymous variant)	Amyotrophic Lateral Sclerosis, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 1181571	NM_004629.2(FANCG):c.1637-189G>C	FANCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205708	NM_004629.2(FANCG):c.1637-210G>A	FANCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 6717	NM_004629.2(FANCG):c.1480+1G>C	FANCG	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GPathogenic
Select item 619961	NM_004629.2(FANCG):c.1158del (p.Ser387fs)	FANCG (S387fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
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 445394	NM_004629.2(FANCG):c.1077-2A>G	FANCG	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
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 966362	NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)	FANCG (E326*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 1251767	NM_004629.2(FANCG):c.778-39G>C	FANCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260031	NM_004629.2(FANCG):c.777+45G>A	FANCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435153	NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	FANCG (Q247K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 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 6719	NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)	FANCG (Y213fs)	Deletion (frameshift variant)	Fanconi anemia complementation group G +2 more	GPathogenic
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 1226266	NM_004629.2(FANCG):c.511-81A>C	FANCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232975	NM_004629.2(FANCG):c.511-301C>T	FANCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195322	NM_004629.2(FANCG):c.510+38C>T	FANCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 239968	NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)	FANCG (A160T)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1185780	NM_004629.2(FANCG):c.307+126T>C	FANCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197074	NM_004629.2(FANCG):c.176-112G>A	FANCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233976	NM_004629.2(FANCG):c.176-127dup	FANCG	Duplication (intron variant)	not provided	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 366742	NM_004629.2(FANCG):c.-392A>G	FANCG	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 366744	NM_004629.1(FANCG):c.-453_-452insT	FANCG	Insertion	Fanconi anemia +1 more	GBenign
Select item 366746	NM_004629.1(FANCG):c.-490G>T	FANCG	Single nucleotide variant	Fanconi anemia complementation group G +1 more	GBenign
Select item 369629	NM_004629.1(FANCG):c.-504A>T	FANCG	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 1196364	NC_000009.12:g.35080109T>C	FANCG	Single nucleotide variant	not provided	GLikely benign
Select item 1281540	NC_000009.12:g.35080213C>T	FANCG	Single nucleotide variant	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 41