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

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691918	NM_021922.3(FANCE):c.12G>A (p.Pro4=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 134331	NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)	FANCE, LOC129996245 (P18S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 858230	NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)	FANCE, LOC129996245 (P18L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GUncertain significance
Select item 1343699	NM_021922.3(FANCE):c.86T>A (p.Leu29Gln)	FANCE, LOC129996245 (L29Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 861398	NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)	FANCE, LOC129996245 (G45R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 940025	NM_021922.3(FANCE):c.224A>C (p.Gln75Pro)	FANCE, LOC129996245 (Q75P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 134330	NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)	FANCE, LOC129996245 (P77T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 356443	NM_021922.3(FANCE):c.248+7C>A	FANCE, LOC129996245	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 471926	NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)	FANCE (R92W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GConflicting classifications of pathogenicity
Select item 539301	NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	FANCE (Q95R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +3 more	GConflicting classifications of pathogenicity
Select item 471927	NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)	FANCE (S100T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GUncertain significance
Select item 408153	NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)	FANCE (A104G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1319661	NM_021922.3(FANCE):c.313G>A (p.Val105Ile)	FANCE (V105I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 981873	NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)	FANCE (P110L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 408151	NM_021922.3(FANCE):c.436G>T (p.Val146Leu)	FANCE (V146L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GUncertain significance
Select item 695965	NM_021922.3(FANCE):c.522G>A (p.Gly174=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1691919	NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)	FANCE (R219K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1005434	NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)	FANCE (R221W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GUncertain significance
Select item 1691920	NM_021922.3(FANCE):c.693G>A (p.Lys231=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E +1 more	GLikely benign
Select item 356447	NM_021922.3(FANCE):c.696G>A (p.Glu232=)	FANCE	Single nucleotide variant (synonymous variant)	FANCE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 210982	NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)	FANCE (G246del)	Microsatellite (inframe_deletion)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 1691921	NM_021922.3(FANCE):c.901-5C>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 356449	NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)	FANCE (L326W)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1691917	NM_021922.3(FANCE):c.1017C>T (p.Leu339=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E +1 more	GLikely benign
Select item 1106220	NM_021922.3(FANCE):c.1062T>C (p.Asp354=)	FANCE	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 697123	NM_021922.3(FANCE):c.1114-4G>A	FANCE	Single nucleotide variant (intron variant)	FANCE-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 414826	NM_021922.3(FANCE):c.1116C>T (p.Ile372=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 134342	NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)	FANCE (R381C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 1350573	NM_021922.3(FANCE):c.1276A>G (p.Met426Val)	FANCE (M426V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 414821	NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)	FANCE (M437T)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 906715	NM_021922.3(FANCE):c.1317-11C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E +1 more	GConflicting classifications of pathogenicity
Select item 221002	NM_021922.3(FANCE):c.1572G>A (p.Arg524=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 1351718	NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)	FANCE (K532Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance
Select item 539293	NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)	FANCE	Single nucleotide variant (stop lost)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity

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: 34