C4551480[trait identifier] AND "Service de Biochimie Médicale et Biolo - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916637	NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter)	FRAS1 (C95*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 197861	NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)	FRAS1 (R124*)	Single nucleotide variant (nonsense)	FRAS1-related condition +2 more	GPathogenic
Select item 916642	NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs)	FRAS1 (A192fs)	Microsatellite (frameshift variant)	Fraser syndrome 1 +1 more	GPathogenic
Select item 916645	NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter)	FRAS1 (R207*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 916644	NM_025074.7(FRAS1):c.688-5T>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GPathogenic
Select item 349672	NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)	FRAS1 (E296K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 916650	NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter)	FRAS1 (W374*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 916647	NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)	FRAS1 (R385*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 916652	NM_025074.7(FRAS1):c.1399+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GPathogenic
Select item 916653	NM_025074.7(FRAS1):c.1766G>A (p.Cys589Tyr)	FRAS1 (C589Y)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 916655	NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter)	FRAS1 (C670*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 195697	NM_025074.7(FRAS1):c.2722+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 916643	NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)	FRAS1 (R1244*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 916659	NM_025074.7(FRAS1):c.4032dup (p.Met1345fs)	FRAS1 (M1345fs)	Duplication (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 916639	NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter)	FRAS1 (Q1371*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 916660	NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)	FRAS1 (Q1395*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 916646	NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter)	FRAS1 (R1712*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 916654	NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs)	FRAS1 (A1724fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 916657	NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs)	FRAS1 (A1859fs)	Duplication (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 916662	NM_025074.7(FRAS1):c.5716del (p.Ile1906fs)	FRAS1 (I1906fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 916664	NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs)	FRAS1 (D1985fs)	Duplication (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 916663	NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)	FRAS1 (G2004S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GPathogenic/Likely pathogenic
Select item 349755	NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)	FRAS1 (N2541S)	Single nucleotide variant (missense variant)	FRAS1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 916665	NM_025074.7(FRAS1):c.8098+1G>T	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 916658	NM_025074.7(FRAS1):c.8604+5G>A	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 916638	NM_025074.7(FRAS1):c.9316+2T>A	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GPathogenic
Select item 916661	NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)	FRAS1 (E3156*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 916666	NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter)	FRAS1 (Y3209*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 916667	NM_025074.7(FRAS1):c.10140T>A (p.Asn3380Lys)	FRAS1 (N3380K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 916668	NM_025074.7(FRAS1):c.10541-1G>A	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1	GPathogenic
Select item 916669	NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter)	LOC126807089, FRAS1 (Q3667*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 916641	NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter)	FRAS1 (Q3720*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 287853	NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)	FRAS1 (P3755L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 916651	NM_025074.7(FRAS1):c.11298+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 349815	NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys)	FRAS1 (R3768C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 916670	NM_025074.7(FRAS1):c.11445+5_11445+11delinsC	FRAS1	Indel (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 916656	NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter)	FRAS1 (Q3825*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 916640	NC_000004.12:g.78268671_78298757del	FRAS1	Deletion	Fraser syndrome 1	GPathogenic

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Items: 38