"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126807 - ClinVar - NCBI

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Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030692	NM_005245.4(FAT1):c.*7A>G	FAT1, LOC126807253	Single nucleotide variant (3 prime UTR variant)	FAT1-related condition	GLikely benign
Select item 2965077	NM_005245.4(FAT1):c.13722G>A (p.Glu4574=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	FAT1-related condition +1 more	GLikely benign
Select item 2630285	NM_005245.4(FAT1):c.13697G>A (p.Ser4566Asn)	FAT1, LOC126807253 (S4566N)	Single nucleotide variant (missense variant)	FAT1-related condition	GUncertain significance
Select item 2635387	NM_005245.4(FAT1):c.13627A>G (p.Thr4543Ala)	FAT1, LOC126807253 (T4543A)	Single nucleotide variant (missense variant)	FAT1-related condition	GUncertain significance
Select item 791620	NM_005245.4(FAT1):c.13582G>A (p.Glu4528Lys)	FAT1, LOC126807253 (E4528K)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GBenign/Likely benign
Select item 714991	NM_005245.4(FAT1):c.13441C>T (p.Arg4481Trp)	FAT1, LOC126807253 (R4481W)	Single nucleotide variant (missense variant)	FAT1-related condition +1 more	GLikely benign
Select item 3060804	NM_005245.4(FAT1):c.13351T>C (p.Leu4451=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	FAT1-related condition	GLikely benign
Select item 2255552	NM_005245.4(FAT1):c.13255G>A (p.Ala4419Thr)	FAT1, LOC126807253 (A4419T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 720925	NM_005245.4(FAT1):c.13174G>A (p.Val4392Ile)	FAT1, LOC126807253 (V4392I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign