ClinVar for MedGen (Select 324487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362338	NM_001370298.3(FGD4):c.1685AAG[1] (p.Glu563del)	FGD4 (E178del +6 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 4H	GPathogenic
Select item 2441414	NM_001370298.3(FGD4):c.962G>A (p.Gly321Glu)	FGD4 (G184E +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 2441413	NM_001370298.3(FGD4):c.827C>T (p.Pro276Leu)	FGD4 (P139L +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 2441412	NM_001370298.3(FGD4):c.752C>T (p.Thr251Ile)	FGD4 (T114I +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 1895449	NM_001370298.3(FGD4):c.1573dup (p.Ser525fs)	FGD4 (S140fs +6 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4H	GLikely pathogenic
Select item 1566475	NM_001370298.3(FGD4):c.1543+17dup	FGD4	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign/Likely benign
Select item 1355979	NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)	FGD4 (K153Q +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1262679	NM_001370298.3(FGD4):c.2046+37A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign
Select item 1184560	NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln)	FGD4 (R239Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184559	NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs)	FGD4 (D136fs +4 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4H	GLikely pathogenic
Select item 1172838	NM_001370298.3(FGD4):c.789C>G (p.His263Gln)	FGD4 (H126Q +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 969918	NM_001370298.3(FGD4):c.1404+5T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H +1 more	GConflicting classifications of pathogenicity
Select item 883913	NM_001370298.3(FGD4):c.*4988G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GBenign
Select item 883912	NM_001370298.3(FGD4):c.*4832G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883840	NM_001370298.3(FGD4):c.*3543G>C	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883839	NM_001370298.3(FGD4):c.*3195T>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883787	NM_001370298.3(FGD4):c.*1564T>C	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GBenign
Select item 883786	NM_001370298.3(FGD4):c.*1530T>C	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883733	NM_001370298.3(FGD4):c.*131A>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883732	NM_001370298.3(FGD4):c.*69T>C	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883731	NM_001370298.3(FGD4):c.*27G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign/Likely benign
Select item 883730	NM_001370298.3(FGD4):c.2172+12T>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 883139	NM_001370298.3(FGD4):c.*4585T>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GLikely benign
Select item 883138	NM_001370298.3(FGD4):c.*4446A>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883137	NM_001370298.3(FGD4):c.*4347T>C	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883066	NM_001370298.3(FGD4):c.*3022A>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883065	NM_001370298.3(FGD4):c.*2859G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 883064	NM_001370298.3(FGD4):c.*2648G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882994	NM_001370298.3(FGD4):c.*1375C>T	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882993	NM_001370298.3(FGD4):c.*1365T>C	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882992	NM_001370298.3(FGD4):c.*1351A>T	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882991	NM_001370298.3(FGD4):c.*1259A>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882939	NM_001370298.3(FGD4):c.1980T>C (p.Phe660=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882045	NM_001370298.3(FGD4):c.*5389A>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882044	NM_001370298.3(FGD4):c.*5321G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 882043	NM_001370298.3(FGD4):c.*5265A>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881972	NM_001370298.3(FGD4):c.*4317T>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881971	NM_001370298.3(FGD4):c.*4192G>T	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GBenign
Select item 881970	NM_001370298.3(FGD4):c.*4118G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881969	NM_001370298.3(FGD4):c.*4028A>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GLikely benign
Select item 881891	NM_001370298.3(FGD4):c.*2487C>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H +1 more	GConflicting classifications of pathogenicity
Select item 881890	NM_001370298.3(FGD4):c.*2309G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881889	NM_001370298.3(FGD4):c.*2264G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881788	NM_001370298.3(FGD4):c.1602+6T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881736	NM_001370298.3(FGD4):c.167-61986C>G	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881735	NM_001370298.3(FGD4):c.167-62001C>G	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881734	NM_001370298.3(FGD4):c.167-62008C>A	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881454	NM_001370298.3(FGD4):c.*2192G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881453	NM_001370298.3(FGD4):c.*2096T>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881397	NM_001370298.3(FGD4):c.*712C>T	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881396	NM_001370298.3(FGD4):c.*368T>C	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881395	NM_001370298.3(FGD4):c.*167G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GLikely benign
Select item 881345	NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile)	FGD4 (M205I +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 880631	NM_001370298.3(FGD4):c.*5243C>T	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 880630	NM_001370298.3(FGD4):c.*5153G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 880551	NM_001370298.3(FGD4):c.*4014C>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GLikely benign
Select item 880550	NM_001370298.3(FGD4):c.*3994A>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 880549	NM_001370298.3(FGD4):c.*3940G>A	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 880548	NM_001370298.3(FGD4):c.*3937A>G	FGD4	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 849450	NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)	FGD4 (S329L +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 816535	NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del)	FGD4 (K165del +6 more)	Deletion (inframe_indel +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 811985	NM_001370298.3(FGD4):c.504-20C>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 802832	NM_001370298.3(FGD4):c.42C>G (p.Ile14Met)	FGD4 (I41M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign
Select item 697392	NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)	FGD4 (T125M +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4H +3 more	GConflicting classifications of pathogenicity
Select item 670479	NM_001370298.3(FGD4):c.1248-37T>A	FGD4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 658814	NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)	FGD4 (M355V +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 637942	NM_001370298.3(FGD4):c.1248-2A>G	FGD4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637084	NM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter)	FGD4 (W676* +6 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637083	NM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs)	FGD4 (R445fs +6 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637082	NM_001370298.3(FGD4):c.1248-1G>A	FGD4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637081	NM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs)	FGD4 (K715fs +6 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637080	NM_001370298.3(FGD4):c.1543+1G>A	FGD4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637079	NM_001370298.3(FGD4):c.925dup (p.Ala309fs)	FGD4 (A172fs +3 more)	Duplication (frameshift variant +3 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637078	NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile)	FGD4 (M566I +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 598942	GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4	FGD4	Copy number gain	Charcot-Marie-Tooth disease type 4H	GLikely pathogenic
Select item 598939	NM_001370298.3(FGD4):c.2622dup (p.Ala875fs)	FGD4 (A554fs +5 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4H	GPathogenic
Select item 598938	NM_001370298.3(FGD4):c.925del (p.Ala309fs)	FGD4 (A257fs +3 more)	Deletion (frameshift variant +3 more)	Charcot-Marie-Tooth disease type 4H	GPathogenic
Select item 587565	NM_001370298.3(FGD4):c.167-77996del	FGD4 (G3fs)	Deletion (frameshift variant +3 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 587439	NM_001370298.3(FGD4):c.1367G>A (p.Arg456His)	FGD4 (R319H +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 543490	NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)	FGD4 (N297S +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 543423	NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)	FGD4 (S477N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 476946	NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 447322	NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs)	FGD4 (E225fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419181	NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)	FGD4 (K382fs +6 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic
Select item 414873	NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)	FGD4 (T79I +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +4 more	GLikely benign
Select item 308381	NM_001370298.3(FGD4):c.*5329G>C	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308380	NM_001370298.3(FGD4):c.*5309C>T	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308379	NM_001370298.3(FGD4):c.*5244G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GLikely benign
Select item 308378	NM_001370298.3(FGD4):c.*5223G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308377	NM_001370298.3(FGD4):c.*5198G>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign
Select item 308375	NM_001370298.3(FGD4):c.*5152C>T	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308374	NM_001370298.3(FGD4):c.*5072A>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308373	NM_001370298.3(FGD4):c.*5020G>C	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308372	NM_001370298.3(FGD4):c.*4991A>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign
Select item 308371	NM_001370298.3(FGD4):c.*4977G>C	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308370	NM_001370298.3(FGD4):c.*4956T>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign
Select item 308369	NM_001370298.3(FGD4):c.*4925A>T	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308368	NM_001370298.3(FGD4):c.*4862C>A	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308367	NM_001370298.3(FGD4):c.*4831C>T	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GLikely benign
Select item 308365	NM_001370298.3(FGD4):c.*4756A>G	FGD4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4H	GUncertain significance

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