ClinVar for Gene (Select 90121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3067591	NM_058163.3(TSR2):c.442-4C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3012583	NM_004463.3(FGD1):c.2547A>G (p.Glu849=)	FGD1, TSR2	Single nucleotide variant (3 prime UTR 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 2959844	NM_058163.3(TSR2):c.223A>G (p.Asn75Asp)	TSR2 (N75D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2876309	NM_058163.3(TSR2):c.507A>G (p.Pro169=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2867263	NM_058163.3(TSR2):c.25C>A (p.Arg9=)	TSR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2860744	NM_058163.3(TSR2):c.264+13C>T	TSR2	Single nucleotide variant (intron variant)	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 2822709	NM_058163.3(TSR2):c.168C>G (p.Arg56=)	TSR2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2814309	NM_058163.3(TSR2):c.304A>C (p.Arg102=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2798751	NM_058163.3(TSR2):c.82A>G (p.Ile28Val)	TSR2 (I28V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2787332	NM_058163.3(TSR2):c.187G>C (p.Asp63His)	TSR2 (D63H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2781093	NM_058163.3(TSR2):c.516G>C (p.Gln172His)	TSR2 (Q172H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775965	NM_058163.3(TSR2):c.167G>T (p.Arg56Leu)	TSR2 (R56L)	Single nucleotide variant (5 prime UTR variant +2 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 2685748	GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671606	Single allele	FAM120C, FGD1 +4 more	Duplication	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 2660661	NM_058163.3(TSR2):c.166C>A (p.Arg56Ser)	TSR2 (R56S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2636867	NM_058163.3(TSR2):c.505C>G (p.Pro169Ala)	TSR2 (P166A +2 more)	Single nucleotide variant (missense variant)	TSR2-related condition	GUncertain significance
Select item 2635895	NM_058163.3(TSR2):c.17A>G (p.Glu6Gly)	TSR2 (E6G)	Single nucleotide variant (missense variant +1 more)	TSR2-related condition	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 2621096	NM_058163.3(TSR2):c.61G>C (p.Glu21Gln)	TSR2 (E21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598649	NM_004463.3(FGD1):c.2857G>A (p.Glu953Lys)	FGD1, TSR2 (E953K)	Single nucleotide variant (missense variant +1 more)	not provided +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)	FGD1, TSR2 (I871V)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2555211	NM_058163.3(TSR2):c.212A>G (p.Glu71Gly)	TSR2 (E71G)	Single nucleotide variant (missense variant +1 more)	not specified	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 2526099	NM_058163.3(TSR2):c.341G>C (p.Cys114Ser)	TSR2 (C19S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521463	NM_058163.3(TSR2):c.292C>T (p.His98Tyr)	TSR2 (H95Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2492820	NM_058163.3(TSR2):c.452C>T (p.Thr151Met)	TSR2 (T151M +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 2441406	NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln)	FGD1, TSR2 (R958Q)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome +1 more	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2414349	NM_058163.3(TSR2):c.7G>A (p.Gly3Ser)	TSR2 (G3S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2302057	NM_058163.3(TSR2):c.14C>T (p.Ala5Val)	TSR2 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2262503	NM_058163.3(TSR2):c.22G>C (p.Ala8Pro)	TSR2 (A8P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2191008	NM_058163.3(TSR2):c.138G>C (p.Leu46=)	TSR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2189287	NM_004463.3(FGD1):c.2646G>A (p.Glu882=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179140	NM_058163.3(TSR2):c.173-6A>G	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2163892	NM_058163.3(TSR2):c.318T>C (p.Ala106=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 2150704	NM_058163.3(TSR2):c.143G>A (p.Gly48Asp)	TSR2 (G48D)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 2111455	NM_058163.3(TSR2):c.494A>C (p.Glu165Ala)	TSR2 (E70A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076580	NM_058163.3(TSR2):c.12T>C (p.Ala4=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2062188	NM_058163.3(TSR2):c.225C>T (p.Asn75=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2059210	NM_058163.3(TSR2):c.45G>T (p.Gly15=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2043716	NM_058163.3(TSR2):c.442-8C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1974978	NM_058163.3(TSR2):c.462G>A (p.Gly154=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974498	NM_058163.3(TSR2):c.172+20C>A	TSR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1973525	NM_058163.3(TSR2):c.442-17_442-16del	TSR2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1972430	NM_058163.3(TSR2):c.511G>A (p.Ala171Thr)	TSR2 (A171T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1809375	GRCh37/hg19 Xp11.22(chrX:54184241-54786514)x3	FAM120C, FGD1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808241	GRCh37/hg19 Xp11.22-11.21(chrX:53854115-54953273)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807829	GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3	ALAS2, AMER1 +34 more	Copy number gain	not provided	GLikely pathogenic
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)	FGD1-related disorder +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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
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 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 1695305	NM_058163.3(TSR2):c.104G>C (p.Gly35Ala)	TSR2 (G35A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1526801	GRCh37/hg19 Xp11.22(chrX:53797930-54608609)	FAM120C, FGD1 +4 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526799	GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871)	ALAS2, APEX2 +33 more	Copy number gain	not specified	GLikely pathogenic
Select item 1411202	NC_000023.10:g.(?_53222149)_(54497940_?)dup	FAM120C, FGD1 +11 more	Duplication	not provided	GUncertain significance
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 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340693	GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2	ALAS2, APEX2 +32 more	Copy number gain	not provided	GPathogenic
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

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