"PreventionGenetics, part of Exact Sciences"[submitter] AND "FGD1"[gen - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287068	NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)	FGD1, TSR2 (E939A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167061	NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)	FGD1, TSR2 (P929L)	Single nucleotide variant (missense variant +1 more)	TSR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1795263	NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln)	FGD1, TSR2 (R910Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 547370	NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)	FGD1, TSR2 (R910*)	Single nucleotide variant (nonsense +1 more)	FGD1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 786705	NM_004463.3(FGD1):c.2581-6C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	TSR2-related disorder +3 more	GBenign/Likely benign
Select item 1791688	NM_004463.3(FGD1):c.2466C>T (p.Ser822=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2630171	NM_004463.3(FGD1):c.2346C>G (p.Cys782Trp)	FGD1 (C782W)	Single nucleotide variant (missense variant)	FGD1-related disorder	GUncertain significance
Select item 2167838	NM_004463.3(FGD1):c.2275-6C>A	FGD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2660666	NM_004463.3(FGD1):c.2178G>A (p.Thr726=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 95089	NM_004463.3(FGD1):c.2136A>G (p.Pro712=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 95086	NM_004463.3(FGD1):c.2091T>C (p.Thr697=)	FGD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259403	NM_004463.3(FGD1):c.2015+48G>C	FGD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3032969	NM_004463.3(FGD1):c.1740C>T (p.Gly580=)	FGD1	Single nucleotide variant (synonymous variant)	FGD1-related disorder	GLikely benign
Select item 199095	NM_004463.3(FGD1):c.1647G>A (p.Glu549=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259402	NM_004463.3(FGD1):c.1636+21C>T	FGD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 95083	NM_004463.3(FGD1):c.1563C>T (p.Pro521=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 95081	NM_004463.3(FGD1):c.1556G>A (p.Arg519His)	FGD1 (R519H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 520730	NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys)	FGD1 (R519C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2232264	NM_004463.3(FGD1):c.1076del (p.Leu359fs)	FGD1 (L359fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 773926	NM_004463.3(FGD1):c.942C>A (p.Pro314=)	FGD1	Single nucleotide variant (synonymous variant)	FGD1-related disorder +1 more	GBenign
Select item 10828	NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)	FGD1 (P312L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3046847	NM_004463.3(FGD1):c.747G>A (p.Ser249=)	FGD1	Single nucleotide variant (synonymous variant)	FGD1-related disorder	GLikely benign
Select item 95094	NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)	FGD1 (A226T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259404	NM_004463.3(FGD1):c.659+27T>C	FGD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3038061	NM_004463.3(FGD1):c.615C>T (p.Ser205=)	FGD1	Single nucleotide variant (synonymous variant)	FGD1-related disorder	GLikely benign
Select item 2166352	NM_004463.3(FGD1):c.528A>C (p.Pro176=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 196389	NM_004463.3(FGD1):c.527dup (p.Leu177fs)	FGD1 (L177fs)	Duplication (frameshift variant)	Aarskog syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3046497	NM_004463.3(FGD1):c.482-2A>G	FGD1	Single nucleotide variant (splice acceptor variant)	FGD1-related disorder	GPathogenic
Select item 167063	NM_004463.3(FGD1):c.482-10G>A	FGD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 95092	NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)	FGD1 (R132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 167064	NM_004463.3(FGD1):c.281A>G (p.His94Arg)	FGD1 (H94R)	Single nucleotide variant (missense variant)	FGD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2629846	NM_004463.3(FGD1):c.250C>G (p.Gln84Glu)	FGD1 (Q84E)	Single nucleotide variant (missense variant)	FGD1-related disorder	GUncertain significance
Select item 95078	NM_004463.3(FGD1):c.110C>T (p.Ala37Val)	FGD1 (A37V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 798015	NM_004463.3(FGD1):c.85G>C (p.Ala29Pro)	FGD1 (A29P)	Single nucleotide variant (missense variant)	FGD1-related disorder +2 more	GBenign/Likely benign
Select item 95077	NM_004463.3(FGD1):c.-4G>C	FGD1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +2 more	GBenign

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Items: 35