ClinVar for MedGen (Select 8912) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362599	NM_002024.6(FMR1):c.188_193del (p.Asp63_Glu64del)	FMR1	Deletion (non-coding transcript variant)	Fragile X syndrome	GUncertain significance
Select item 3359088	NM_002024.6(FMR1):c.210_211dup (p.Ala71fs)	FMR1 (A71fs)	Microsatellite (frameshift variant +1 more)	Fragile X syndrome	GPathogenic
Select item 3255145	NM_002024.6(FMR1):c.1375A>T (p.Lys459Ter)	FMR1 (K438* +1 more)	Single nucleotide variant (nonsense +1 more)	Fragile X syndrome	GPathogenic
Select item 3242045	NM_002024.6(FMR1):c.838G>A (p.Glu280Lys)	FMR1 (E280K)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 2692303	NM_002024.6(FMR1):c.513+5G>A	FMR1	Single nucleotide variant (intron variant)	Fragile X syndrome	GUncertain significance
Select item 2580155	NM_002024.6(FMR1):c.1691G>A (p.Arg564His)	FMR1 (R518H +4 more)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
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 1708227	NM_002024.6(FMR1):c.1268_1269del (p.Tyr423fs)	FMR1 (Y402fs +1 more)	Deletion (frameshift variant +1 more)	Fragile X syndrome	GLikely pathogenic
Select item 1701686	NM_002024.6(FMR1):c.413G>A (p.Arg138Gln)	FMR1 (R138Q)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 1698834	NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys)	FMR1 (R565C +2 more)	Single nucleotide variant (synonymous variant +2 more)	Fragile X syndrome	GUncertain significance
Select item 1676786	NM_002024.6(FMR1):c.786T>G (p.Phe262Leu)	FMR1 (F262L)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	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 1027988	NM_002024.6(FMR1):c.1282G>C (p.Asp428His)	FMR1 (D407H +1 more)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 1027987	NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter)	FMR1 (W395*)	Single nucleotide variant (nonsense +2 more)	Fragile X syndrome	GLikely pathogenic
Select item 973210	NC_000023.10:g.146993570GGC[(?_45)]	FMR1, FMR1-AS1	Microsatellite	Fragile X syndrome	GBenign
Select item 973209	NC_000023.10:g.146993570GGC[(45_54)]	FMR1	Microsatellite	Fragile X syndrome	Gother
Select item 973208	NC_000023.10:g.146993570GGC[(55_200)]	FMR1	Microsatellite	Fragile X syndrome	Gother
Select item 804092	NM_002024.6(FMR1):c.*746T>C	FMR1	Single nucleotide variant (3 prime UTR variant +1 more)	Fragile X syndrome	GBenign
Select item 804091	NM_002024.6(FMR1):c.357A>C (p.Lys119Asn)	FMR1 (K119N)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GLikely benign
Select item 623468	NM_002024.6(FMR1):c.-128GGC[200_?]	FMR1, FMR1-AS1	Microsatellite	Fragile X syndrome	GPathogenic
Select item 587984	NM_002024.6(FMR1):c.18G>T (p.Val6=)	LOC107032825, FMR1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 444826	NM_002024.6(FMR1):c.818A>G (p.Lys273Arg)	FMR1 (K273R)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome +2 more	GBenign/Likely benign
Select item 242923	NC_000006.11:g.146735206_147036914del301709	ADGB, ADGB-DT +4 more	Deletion	Fragile X syndrome	GPathogenic
Select item 211027	NM_002024.6(FMR1):c.1572C>T (p.Ser524=)	FMR1 (A434V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 183388	NC_000023.9:g.146703942_146820448del	FMR1	Deletion	Fragile X syndrome	GPathogenic
Select item 183387	NM_002024.6(FMR1):c.-129CGG[201]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	Fragile X syndrome	GPathogenic
Select item 129104	NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)	FMR1 (A145S)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign
Select item 94025	NM_002024.6(FMR1):c.990+14C>T	FMR1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 94023	NM_002024.6(FMR1):c.414G>A (p.Arg138=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign
Select item 29987	NM_002024.6(FMR1):c.80C>A (p.Ser27Ter)	FMR1 (S27*)	Single nucleotide variant (nonsense +1 more)	Fragile X syndrome	GPathogenic
Select item 9972	NM_002024.6:c.-128GGM[55_?]	FMR1	Microsatellite	Fragile X syndrome +2 more	GPathogenic
Select item 9971	NM_002024.6(FMR1):c.52-1_52delinsTA	FMR1	Indel (splice acceptor variant)	Fragile X syndrome	GPathogenic
Select item 9970	NM_002024.6(FMR1):c.373del (p.Thr125fs)	FMR1 (T125fs)	Deletion (frameshift variant +1 more)	Fragile X syndrome	GPathogenic
Select item 9969	NM_002024.6(FMR1):c.911T>A (p.Ile304Asn)	FMR1 (I304N)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GPathogenic

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Items: 34