"Sema4, Sema4"[submitter] AND "FANCG"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692836	NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe)	FANCG (L555F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1154274	NM_004629.2(FANCG):c.1662G>A (p.Leu554=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 1692835	NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln)	FANCG (R548Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 366732	NM_004629.2(FANCG):c.1638T>C (p.Gly546=)	FANCG, VCP	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 1130421	NM_004629.2(FANCG):c.1581C>T (p.Ser527=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 414811	NM_004629.2(FANCG):c.1578C>T (p.Ala526=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 239964	NM_004629.2(FANCG):c.1545C>T (p.Ala515=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 577185	NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)	FANCG (P386A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1692834	NM_004629.2(FANCG):c.1144-9C>A	FANCG	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1692833	NM_004629.2(FANCG):c.1011C>T (p.Pro337=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 456241	NM_004629.2(FANCG):c.968T>C (p.Ile323Thr)	FANCG (I323T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 134367	NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)	FANCG, VCP (T297I)	Single nucleotide variant (missense variant)	FANCG-related condition +6 more	GBenign/Likely benign
Select item 1692842	NM_004629.2(FANCG):c.844C>T (p.Pro282Ser)	FANCG (P282S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1327085	NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)	FANCG (R257C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 435153	NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	FANCG (Q247K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 408142	NM_004629.2(FANCG):c.730G>A (p.Val244Met)	FANCG (V244M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 702766	NM_004629.2(FANCG):c.729T>C (p.Pro243=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 1692841	NM_004629.2(FANCG):c.706G>A (p.Ala236Thr)	FANCG (A236T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1337018	NM_004629.2(FANCG):c.646+12A>G	FANCG	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 134366	NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)	FANCG, VCP (R214C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +4 more	GBenign/Likely benign
Select item 1692840	NM_004629.2(FANCG):c.616G>A (p.Val206Ile)	FANCG (V206I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1626592	NM_004629.2(FANCG):c.549T>C (p.Thr183=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group G +1 more	GLikely benign
Select item 239968	NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)	FANCG (A160T)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1347630	NM_004629.2(FANCG):c.463C>T (p.Arg155Cys)	FANCG (R155C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 999134	NM_004629.2(FANCG):c.422G>A (p.Arg141His)	FANCG (R141H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 940932	NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)	FANCG (P133L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +1 more	GUncertain significance
Select item 408141	NM_004629.2(FANCG):c.373_375dup (p.Val125dup)	FANCG	Duplication (inframe_insertion)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 414813	NM_004629.2(FANCG):c.375C>G (p.Val125=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GBenign/Likely benign
Select item 134365	NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)	FANCG (W122C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1692839	NM_004629.2(FANCG):c.337A>G (p.Arg113Gly)	FANCG (R113G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1692838	NM_004629.2(FANCG):c.333G>C (p.Gly111=)	FANCG	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1692837	NM_004629.2(FANCG):c.308-25_308-12del	FANCG	Deletion (intron variant)	Fanconi anemia	GUncertain significance
Select item 929679	NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)	FANCG (Q86*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33