"GeneDx"[submitter] AND "FMR1"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 57991	GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1	AFF2, ATP11C +135 more	Copy number loss	See cases	GPathogenic
Select item 58003	GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0	CDR1, CXorf51A +63 more	Copy number loss	See cases	GPathogenic
Select item 58006	GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1	AFF2, EOLA1 +74 more	Copy number loss	See cases	GPathogenic
Select item 1303048	NC_000023.11:g.147911887T>C	FMR1, LOC107032825 +1 more	Single nucleotide variant	not provided	GUncertain significance
Select item 1272795	NM_002024.6(FMR1):c.-98GGC[11]	FMR1, FRAXA +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1224679	NM_002024.6(FMR1):c.52-112A>G	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723506	NM_002024.6(FMR1):c.66T>A (p.Asp22Glu)	FMR1 (D22E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304008	NM_002024.6(FMR1):c.71A>G (p.His24Arg)	FMR1 (H24R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368324	NM_002024.6(FMR1):c.82A>T (p.Ile28Leu)	FMR1 (I28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308996	NM_002024.6(FMR1):c.101A>G (p.Asn34Ser)	FMR1 (N34S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1237682	NM_002024.6(FMR1):c.104+61=	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239707	NM_002024.6(FMR1):c.104+291T>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699508	NM_002024.6(FMR1):c.188A>G (p.Asp63Gly)	FMR1 (D63G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1179613	NM_002024.6(FMR1):c.198+69T>A	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326069	NM_002024.6(FMR1):c.272T>C (p.Phe91Ser)	FMR1 (F91S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663123	NM_002024.6(FMR1):c.300T>G (p.Asp100Glu)	FMR1 (D100E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1208703	NM_002024.6(FMR1):c.304A>G (p.Thr102Ala)	FMR1 (T102A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573912	NM_002024.6(FMR1):c.358C>A (p.Pro120Thr)	FMR1 (P120T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578091	NM_002024.6(FMR1):c.378C>A (p.Phe126Leu)	FMR1 (F126L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367446	NM_002024.6(FMR1):c.406G>C (p.Asp136His)	FMR1 (D136H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 94023	NM_002024.6(FMR1):c.414G>A (p.Arg138=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 1295045	NM_002024.6(FMR1):c.419+204G>A	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265113	NM_002024.6(FMR1):c.420-286=	FMR1	Deletion (intron variant)	not provided	GBenign
Select item 3370943	NM_002024.6(FMR1):c.490G>A (p.Glu164Lys)	FMR1 (E164K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574375	NM_002024.6(FMR1):c.545A>G (p.His182Arg)	FMR1 (H182R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451618	NM_002024.6(FMR1):c.554T>C (p.Ile185Thr)	FMR1 (I185T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369105	NM_002024.6(FMR1):c.742C>T (p.Pro248Ser)	FMR1 (P248S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343126	NM_002024.6(FMR1):c.743C>T (p.Pro248Leu)	FMR1 (P248L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 496878	NM_002024.6(FMR1):c.801+31C>T	FMR1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1255083	NM_002024.6(FMR1):c.880+239T>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280182	NM_002024.6(FMR1):c.881-94C>T	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504902	NM_002024.6(FMR1):c.990+1G>T	FMR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 94025	NM_002024.6(FMR1):c.990+14C>T	FMR1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1182276	NM_002024.6(FMR1):c.990+141T>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695614	NM_002024.6(FMR1):c.1037G>A (p.Gly346Glu)	FMR1 (G346E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305423	NM_002024.6(FMR1):c.1055A>G (p.Glu352Gly)	FMR1 (E352G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284107	NM_002024.6(FMR1):c.1125+73G>A	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280078	NM_002024.6(FMR1):c.1188+94G>C	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1744341	NM_002024.6(FMR1):c.1189G>A (p.Gly397Ser)	FMR1 (G397S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 372871	NM_002024.6(FMR1):c.1256A>G (p.Tyr419Cys)	FMR1 (Y419C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1174186	NM_002024.6(FMR1):c.1275+103A>G	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253409	NM_002024.6(FMR1):c.1276-93A>T	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1802576	NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)	FMR1 (R421Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 450797	NM_002024.6(FMR1):c.1332T>A (p.Ile444=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3366032	NM_002024.6(FMR1):c.1382A>G (p.Tyr461Cys)	FMR1 (Y440C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662825	NM_002024.6(FMR1):c.1439G>A (p.Gly480Glu)	FMR1 (G459E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368021	NM_002024.6(FMR1):c.1450C>T (p.Arg484Cys)	FMR1 (R463C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308829	NM_002024.6(FMR1):c.1463A>G (p.Tyr488Cys)	FMR1 (Y467C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1180089	NM_002024.6(FMR1):c.1472-521C>G	FMR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1259998	NM_002024.6(FMR1):c.1472-123=	FMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369960	NM_002024.6(FMR1):c.1636C>T (p.Arg546Cys)	FMR1 (R500C +2 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 452357	NM_002024.6(FMR1):c.1726G>A (p.Gly576Arg)	FMR1 (G576R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366061	NM_002024.6(FMR1):c.1829A>G (p.Asp610Gly)	FMR1 (D564G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253866	GRCh37/hg19 Xq27.3-28(chrX:146977059-147106579)x2	FMR1-AS1, FMR1NB +1 more	Copy number gain	See cases	GUncertain significance
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 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 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 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 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 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	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 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 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 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 3362155	NM_002024.6(FMR1):c.73G>A (p.Glu25Lys)	FMR1 (E25K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360711	NM_002024.6(FMR1):c.1784dup (p.Leu595fs)	FMR1 (L549fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3359765	NM_002024.6(FMR1):c.419+6T>C	FMR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 76