Related gene-specific medical variations for Gene (Select 2245) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339256	NM_004463.3(FGD1):c.2473T>C (p.Cys825Arg)	FGD1, TSR2 (C825R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246618	NC_000023.10:g.(?_54481861)_(54483020_?)dup	FGD1	Duplication	not provided	GLikely pathogenic
Select item 3246607	NC_000023.10:g.(?_54521539)_(54521865_?)dup	FGD1	Duplication	not provided	GUncertain significance
Select item 3234049	NM_004463.3(FGD1):c.2784dup (p.Pro929fs)	FGD1, TSR2 (P929fs)	Duplication (frameshift variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 3012583	NM_004463.3(FGD1):c.2547A>G (p.Glu849=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991753	NM_004463.3(FGD1):c.2581-11C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2965344	NM_004463.3(FGD1):c.2511A>G (p.Gly837=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2917013	NM_004463.3(FGD1):c.2634C>T (p.Pro878=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2886573	NM_004463.3(FGD1):c.2592C>G (p.Ala864=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864668	NM_004463.3(FGD1):c.2748T>A (p.Leu916=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838984	NM_004463.3(FGD1):c.2799G>A (p.Glu933=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793876	NM_004463.3(FGD1):c.2574C>A (p.Ala858=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781854	NM_004463.3(FGD1):c.2717_2718del (p.Glu906fs)	FGD1, TSR2 (E906fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2704094	NM_004463.3(FGD1):c.2604G>A (p.Leu868=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2702190	NM_004463.3(FGD1):c.2854C>G (p.Pro952Ala)	FGD1, TSR2 (P952A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 2622685	NM_004463.3(FGD1):c.2851C>T (p.Pro951Ser)	FGD1, TSR2 (P951S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598649	NM_004463.3(FGD1):c.2857G>A (p.Glu953Lys)	FGD1, TSR2 (E953K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2578544	NM_004463.3(FGD1):c.2501dup (p.Gly835fs)	FGD1, TSR2 (G835fs)	Duplication (frameshift variant +1 more)	Aarskog syndrome	GLikely pathogenic
Select item 2578533	NM_004463.3(FGD1):c.2611A>G (p.Ile871Val)	TSR2, FGD1 (I871V)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2535158	NM_004463.3(FGD1):c.2753G>A (p.Arg918Gln)	FGD1, TSR2 (R918Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506596	NM_004463.3(FGD1):c.2794_2797del (p.Ser932fs)	FGD1, TSR2 (S932fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2504799	NM_004463.3(FGD1):c.2846C>T (p.Ala949Val)	FGD1, TSR2 (A949V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441811	NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)	FGD1 (G794R)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 2441411	NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys)	FGD1, TSR2 (Y854C)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2441410	NM_004463.3(FGD1):c.2154G>A (p.Val718=)	FGD1	Single nucleotide variant (synonymous variant)	Aarskog syndrome	GUncertain significance
Select item 2441408	NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly)	FGD1, TSR2 (R935G)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2441407	NM_004463.3(FGD1):c.486C>A (p.Pro162=)	FGD1	Single nucleotide variant (synonymous variant)	Aarskog syndrome	GUncertain significance
Select item 2441406	NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln)	FGD1, TSR2 (R958Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2440247	NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs)	FGD1 (R656fs)	Deletion (frameshift variant)	Aarskog syndrome	GLikely pathogenic
Select item 2273429	NM_004463.3(FGD1):c.2851C>A (p.Pro951Thr)	FGD1, TSR2 (P951T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2189287	NM_004463.3(FGD1):c.2646G>A (p.Glu882=)	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2152612	NM_004463.3(FGD1):c.2761C>A (p.Arg921=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2114308	NM_004463.3(FGD1):c.2487C>T (p.His829=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2034767	NM_004463.3(FGD1):c.2544T>C (p.Asn848=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927882	NM_004463.3(FGD1):c.2581-18T>C	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1905026	NM_004463.3(FGD1):c.2823G>C (p.Pro941=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896300	NM_004463.3(FGD1):c.2580+19C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1796475	NM_004463.3(FGD1):c.2823G>A (p.Pro941=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 1793043	NM_004463.3(FGD1):c.2559G>A (p.Leu853=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely 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 1709736	NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter)	FGD1, TSR2 (W838*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome	GLikely pathogenic
Select item 1705427	NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter)	FGD1, TSR2 (R886*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome	GLikely pathogenic
Select item 1700955	NM_004463.3(FGD1):c.2530G>A (p.Val844Met)	FGD1, TSR2 (V844M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700172	NM_004463.3(FGD1):c.1327C>T (p.Arg443Cys)	FGD1 (R443C)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GPathogenic
Select item 1342057	NM_004463.3(FGD1):c.2555T>C (p.Val852Ala)	FGD1, TSR2 (V852A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314510	NM_004463.3(FGD1):c.2771C>T (p.Thr924Met)	FGD1, TSR2 (T924M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311147	NM_004463.3(FGD1):c.2693G>A (p.Ser898Asn)	TSR2, FGD1 (S898N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309364	NM_004463.3(FGD1):c.2872C>T (p.Arg958Ter)	FGD1, TSR2 (R958*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1308282	NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr)	FGD1, TSR2 (I871T)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome +1 more	GUncertain significance
Select item 1224451	NM_004463.3(FGD1):c.2371G>A (p.Gly791Arg)	FGD1 (G791R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189714	NM_004463.3(FGD1):c.2734T>C (p.Trp912Arg)	FGD1, TSR2 (W912R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 996784	NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter)	FGD1, TSR2 (W912*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 975702	NM_004463.3(FGD1):c.1093T>C (p.Ser365Pro)	FGD1 (S365P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975701	NM_004463.3(FGD1):c.17C>A (p.Ala6Asp)	FGD1 (A6D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975700	NM_004463.3(FGD1):c.514C>T (p.Arg172Trp)	FGD1 (R172W)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely 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 931968	NM_004463.3(FGD1):c.1695+1G>A	FGD1	Single nucleotide variant (splice donor variant)	Aarskog syndrome	GPathogenic
Select item 931636	NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del)	FGD1 (E350del)	Microsatellite (inframe_deletion)	Aarskog syndrome	GUncertain significance
Select item 869445	NM_004463.3(FGD1):c.679del (p.Ser227fs)	FGD1 (S227fs)	Deletion (frameshift variant)	Aarskog syndrome	GPathogenic
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 589463	NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser)	FGD1, TSR2 (P941S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 589118	NM_004463.3(FGD1):c.2757G>A (p.Ala919=)	TSR2, FGD1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588692	NM_004463.3(FGD1):c.2805G>A (p.Arg935=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 585860	NM_004463.3(FGD1):c.2619C>T (p.Phe873=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 585859	NM_004463.3(FGD1):c.2563A>G (p.Ile855Val)	FGD1, TSR2 (I855V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 426885	NM_004463.3(FGD1):c.2719G>T (p.Glu907Ter)	FGD1, TSR2 (E907*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 377221	NM_004463.3(FGD1):c.910G>A (p.Gly304Arg)	FGD1 (G304R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 283074	NM_004463.3(FGD1):c.2751C>T (p.Gly917=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 224655	NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter)	FGD1, TSR2 (R921*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167062	NM_004463.3(FGD1):c.2568C>T (p.Tyr856=)	TSR2, FGD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 167061	NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)	FGD1, TSR2 (P929L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95076	NM_004463.3(FGD1):c.*36C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 10827	NG_008054.1:g.(35701_?)_(?_50820)del	FGD1	Deletion	Aarskog syndrome	GPathogenic

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Links from Gene

Items: 80