"GeneDx"[submitter] AND "FGD1"[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
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 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 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 3363827	NM_004463.3(FGD1):c.2834T>G (p.Leu945Ter)	FGD1, TSR2 (L945*)	Single nucleotide variant (nonsense +1 more)	not provided	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 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 3371680	NM_004463.3(FGD1):c.2762G>C (p.Arg921Pro)	FGD1, TSR2 (R921P)	Single nucleotide variant (missense 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)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
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 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 3370684	NM_004463.3(FGD1):c.2714_2717del (p.Thr905fs)	FGD1, TSR2 (T905fs)	Deletion (frameshift 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 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 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 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 2988979	NM_004463.3(FGD1):c.2308C>T (p.Arg770Cys)	FGD1 (R770C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283722	NM_004463.3(FGD1):c.2274+87G>C	FGD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312186	NM_004463.3(FGD1):c.2152G>A (p.Val718Met)	FGD1 (V718M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95089	NM_004463.3(FGD1):c.2136A>G (p.Pro712=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 95086	NM_004463.3(FGD1):c.2091T>C (p.Thr697=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1179284	NM_004463.3(FGD1):c.2047-196C>A	FGD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259403	NM_004463.3(FGD1):c.2015+48G>C	FGD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1306982	NM_004463.3(FGD1):c.2015G>C (p.Arg672Thr)	FGD1 (R672T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577694	NM_004463.3(FGD1):c.1912C>T (p.Arg638Cys)	FGD1 (R638C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250245	NM_004463.3(FGD1):c.1842+145T>C	FGD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367533	NM_004463.3(FGD1):c.1834C>A (p.Leu612Ile)	FGD1 (L612I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10825	NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)	FGD1 (R610Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2136248	NM_004463.3(FGD1):c.1752T>G (p.Ile584Met)	FGD1 (I584M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712853	NM_004463.3(FGD1):c.1673C>G (p.Ser558Trp)	FGD1 (S558W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274347	NM_004463.3(FGD1):c.1637-72del	FGD1	Deletion (intron variant)	not provided	GBenign
Select item 1250924	NM_004463.3(FGD1):c.1636+251C>G	FGD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259402	NM_004463.3(FGD1):c.1636+21C>T	FGD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3372838	NM_004463.3(FGD1):c.1591C>A (p.Leu531Met)	FGD1 (L531M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10826	NM_004463.3(FGD1):c.1565G>A (p.Arg522His)	FGD1 (R522H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 288809	NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys)	FGD1 (R522C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2507060	NM_004463.3(FGD1):c.1426C>T (p.Arg476Trp)	FGD1 (R476W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312003	NM_004463.3(FGD1):c.1387T>C (p.Phe463Leu)	FGD1 (F463L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429570	NM_004463.3(FGD1):c.1367T>A (p.Ile456Asn)	FGD1 (I456N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703307	NM_004463.3(FGD1):c.1354C>T (p.Arg452Cys)	FGD1 (R452C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294728	NM_004463.3(FGD1):c.1341-65T>C	FGD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 521263	NM_004463.3(FGD1):c.1328G>A (p.Arg443His)	FGD1 (R443H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 547365	NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)	FGD1 (P414L)	Single nucleotide variant (missense variant)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1303948	NM_004463.3(FGD1):c.1222C>T (p.Arg408Trp)	FGD1 (R408W)	Single nucleotide variant (missense variant)	Aarskog syndrome +1 more	GUncertain significance
Select item 1311215	NM_004463.3(FGD1):c.1178A>G (p.His393Arg)	FGD1 (H393R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503185	NM_004463.3(FGD1):c.1163A>T (p.Tyr388Phe)	FGD1 (Y388F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699800	NM_004463.3(FGD1):c.1120G>C (p.Val374Leu)	FGD1 (V374L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194217	NM_004463.3(FGD1):c.1033G>A (p.Glu345Lys)	FGD1 (E345K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 546211	NM_004463.3(FGD1):c.917C>G (p.Pro306Arg)	FGD1 (P306R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 259404	NM_004463.3(FGD1):c.659+27T>C	FGD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 451595	NM_004463.3(FGD1):c.640C>G (p.Leu214Val)	FGD1 (L214V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496830	NM_004463.3(FGD1):c.577C>T (p.Arg193Ter)	FGD1 (R193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2499217	NM_004463.3(FGD1):c.565C>T (p.Pro189Ser)	FGD1 (P189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312077	NM_004463.3(FGD1):c.529C>G (p.Leu177Val)	FGD1 (L177V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 374329	NM_004463.3(FGD1):c.527del (p.Pro176fs)	FGD1 (P176fs)	Deletion (frameshift variant)	Aarskog syndrome +2 more	GPathogenic
Select item 1810503	NM_004463.3(FGD1):c.497G>C (p.Ser166Thr)	FGD1 (S166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261122	NM_004463.3(FGD1):c.482-113C>T	FGD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233109	NM_004463.3(FGD1):c.482-266dup	FGD1	Duplication (intron variant)	not provided	GBenign
Select item 1174348	NM_004463.3(FGD1):c.482-248del	FGD1	Deletion (intron variant)	not provided	GBenign
Select item 1801867	NM_004463.3(FGD1):c.457C>T (p.Arg153Trp)	FGD1 (R153W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327174	NM_004463.3(FGD1):c.278_285del (p.Ser92_Tyr93insTer)	FGD1	Deletion (nonsense)	not provided	GPathogenic
Select item 95078	NM_004463.3(FGD1):c.110C>T (p.Ala37Val)	FGD1 (A37V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1312214	NM_004463.3(FGD1):c.107G>T (p.Gly36Val)	FGD1 (G36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303334	NM_004463.3(FGD1):c.77C>T (p.Ala26Val)	FGD1 (A26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443687	NM_004463.3(FGD1):c.55G>T (p.Ala19Ser)	FGD1 (A19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421839	NM_004463.3(FGD1):c.26dup (p.Ala10fs)	FGD1 (A10fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 3372186	NM_004463.3(FGD1):c.25G>A (p.Gly9Ser)	FGD1 (G9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95077	NM_004463.3(FGD1):c.-4G>C	FGD1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1231995	NC_000023.11:g.54496271G>A	FGD1	Single nucleotide variant	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253410	GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3	ZXDB, PHF8 +37 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3361945	NM_004463.3(FGD1):c.47A>G (p.Glu16Gly)	FGD1 (E16G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361527	NM_004463.3(FGD1):c.356C>T (p.Pro119Leu)	FGD1 (P119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360214	NM_004463.3(FGD1):c.1579C>T (p.Leu527Phe)	FGD1 (L527F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 92