"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FGD1"[gene - ClinVar

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

Search results

Items: 32

	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)	FGD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2660662	NM_004463.3(FGD1):c.2773T>G (p.Phe925Val)	FGD1, TSR2 (F925V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660663	NM_004463.3(FGD1):c.2647C>T (p.Arg883Trp)	FGD1, TSR2 (R883W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1794059	NM_004463.3(FGD1):c.2631G>A (p.Pro877=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 786705	NM_004463.3(FGD1):c.2581-6C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2660664	NM_004463.3(FGD1):c.2569G>A (p.Gly857Arg)	FGD1, TSR2 (G857R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660665	NM_004463.3(FGD1):c.2330G>A (p.Arg777His)	FGD1 (R777H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763893	NM_004463.3(FGD1):c.2223G>A (p.Glu741=)	FGD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 932606	NM_004463.3(FGD1):c.2206T>C (p.Cys736Arg)	FGD1 (C736R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2660666	NM_004463.3(FGD1):c.2178G>A (p.Thr726=)	FGD1	Single nucleotide variant (synonymous variant)	FGD1-related disorder +1 more	GBenign/Likely benign
Select item 598658	NM_004463.3(FGD1):c.2047-5C>A	FGD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 872364	NM_004463.3(FGD1):c.1993C>T (p.Arg665Cys)	FGD1 (R665C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807731	NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser)	FGD1 (N604S)	Single nucleotide variant (missense variant)	Aarskog syndrome +1 more	GUncertain significance
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 3025975	NM_004463.3(FGD1):c.1498-6T>C	FGD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734713	NM_004463.3(FGD1):c.1464C>T (p.Ser488=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2660667	NM_004463.3(FGD1):c.1427G>A (p.Arg476Gln)	FGD1 (R476Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521263	NM_004463.3(FGD1):c.1328G>A (p.Arg443His)	FGD1 (R443H)	Single nucleotide variant (missense variant)	Aarskog syndrome +2 more	GLikely pathogenic
Select item 1335773	NM_004463.3(FGD1):c.1192-4A>G	FGD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 95095	NM_004463.3(FGD1):c.898G>A (p.Val300Ile)	FGD1 (V300I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197236	NM_004463.3(FGD1):c.771C>T (p.Pro257=)	FGD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594201	NM_004463.3(FGD1):c.714C>T (p.Pro238=)	FGD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1701601	NM_004463.3(FGD1):c.540C>A (p.Ile180=)	FGD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397084	NM_004463.3(FGD1):c.527C>T (p.Pro176Leu)	FGD1 (P176L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1299192	NM_004463.3(FGD1):c.419del (p.Pro140fs)	FGD1 (P140fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3067587	NM_004463.3(FGD1):c.276T>G (p.Ser92=)	FGD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067297	NM_004463.3(FGD1):c.232C>T (p.Pro78Ser)	FGD1 (P78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932607	NM_004463.3(FGD1):c.139_140del (p.Gly47fs)	FGD1 (G47fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 872365	NM_004463.3(FGD1):c.106G>A (p.Gly36Arg)	FGD1 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 872366	NM_004463.3(FGD1):c.46del (p.Glu16fs)	FGD1 (E16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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: 32