ClinVar for Gene (Select 121512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244417	NC_000012.11:g.(?_32729292)_(32875587_?)del	DNM1L, FGD4	Deletion	not provided	GPathogenic
Select item 3244341	NC_000012.11:g.(?_32760871)_(32761049_?)del	FGD4	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3094635	NM_001370298.3(FGD4):c.698C>G (p.Ala233Gly)	FGD4 (A181G +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3094634	NM_001370298.3(FGD4):c.434C>T (p.Ser145Phe)	FGD4 (S8F +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3094633	NM_001370298.3(FGD4):c.2458G>A (p.Val820Ile)	FGD4 (V339I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094632	NM_001370298.3(FGD4):c.2194G>A (p.Asp732Asn)	FGD4 (D411N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094631	NM_001370298.3(FGD4):c.1952A>G (p.Lys651Arg)	FGD4 (K421R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3026589	NM_001370298.3(FGD4):c.1699C>T (p.Leu567Phe)	FGD4 (L182F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024001	NM_001370298.3(FGD4):c.1544-19T>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022346	NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018638	NM_001370298.3(FGD4):c.2421C>T (p.Asp807=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013610	NM_001370298.3(FGD4):c.2700A>G (p.Lys900=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2997693	NM_001370298.3(FGD4):c.1005G>A (p.Glu335=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2987337	NM_001370298.3(FGD4):c.675T>C (p.Cys225=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2981492	NM_001370298.3(FGD4):c.504-8T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2980386	NM_001370298.3(FGD4):c.1248-11A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2969417	NM_001370298.3(FGD4):c.867T>C (p.Ser289=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2962450	NM_001370298.3(FGD4):c.1632T>C (p.Tyr544=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2917084	NM_001370298.3(FGD4):c.1102-20T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2908451	NM_001370298.3(FGD4):c.2292G>A (p.Lys764=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2900739	NM_001370298.3(FGD4):c.435T>A (p.Ser145=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2900166	NM_001370298.3(FGD4):c.1749+15G>A	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2892848	NM_001370298.3(FGD4):c.1404+20C>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2875934	NM_001370298.3(FGD4):c.888A>G (p.Pro296=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2841317	NM_001370298.3(FGD4):c.1101+7T>A	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2829358	NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)	FGD4	Deletion (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2827397	NM_001370298.3(FGD4):c.504-2A>C	FGD4	Single nucleotide variant (splice acceptor variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2813307	NM_001370298.3(FGD4):c.1102-6A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2808861	NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)	FGD4 (L219R +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2801652	NM_001370298.3(FGD4):c.1014G>A (p.Glu338=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2791527	NM_001370298.3(FGD4):c.1608C>T (p.Asn536=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2788628	NM_001370298.3(FGD4):c.1405-7A>T	FGD4	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2768497	NM_001370298.3(FGD4):c.1368T>A (p.Arg456=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2738691	NM_001370298.3(FGD4):c.996G>A (p.Gln332=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2734053	NM_001370298.3(FGD4):c.1922+10C>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2731385	NM_001370298.3(FGD4):c.1012-12T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2723179	NM_001370298.3(FGD4):c.1544-17del	FGD4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2718200	NM_001370298.3(FGD4):c.1923-7A>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642836	NM_001370298.3(FGD4):c.1098T>C (p.Asp366=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642835	NM_001370298.3(FGD4):c.875_878del (p.Ser292fs)	FGD4 (S155fs +3 more)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 2616170	NM_001370298.3(FGD4):c.2492_2493del (p.Tyr831fs)	FGD4 (Y601fs +5 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2614532	NM_001370298.3(FGD4):c.2030T>C (p.Ile677Thr)	FGD4 (I447T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609998	NM_001370298.3(FGD4):c.1118T>C (p.Leu373Pro)	FGD4 (L321P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516366	NM_001370298.3(FGD4):c.1588G>A (p.Ala530Thr)	FGD4 (A209T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	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 2427282	NC_000012.11:g.(?_32729292)_(32793467_?)dup	FGD4	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2423556	NC_000012.11:g.(?_32729292)_(33049665_?)dup	FGD4, DNM1L +2 more	Duplication	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2417159	NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)	FGD4 (E127D +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2416228	NM_001370298.3(FGD4):c.1012-19A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2415787	NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)	FGD4 (I136T +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2414189	NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)	FGD4 (P327L +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2387246	NM_001370298.3(FGD4):c.2047A>C (p.Thr683Pro)	FGD4 (T202P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202353	NM_001370298.3(FGD4):c.900_902del (p.Val301del)	FGD4 (V71del +3 more)	Deletion (inframe_indel +4 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2202068	NM_001370298.3(FGD4):c.1077C>T (p.Val359=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2199268	NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)	FGD4 (D163N +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2193371	NM_001370298.3(FGD4):c.1788C>T (p.Ser596=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2187852	NM_001370298.3(FGD4):c.831A>G (p.Ala277=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2183946	NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)	FGD4 (D177G +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2177823	NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)	FGD4 (D282V +3 more)	Indel (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2170744	NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)	FGD4 (Y142* +6 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2159222	NM_001370298.3(FGD4):c.840A>C (p.Thr280=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2157842	NM_001370298.3(FGD4):c.2172+18A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2154969	NM_001370298.3(FGD4):c.1248-4A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2153706	NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)	FGD4 (P22Q +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2153544	NM_001370298.3(FGD4):c.1750-11G>A	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2152396	NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)	FGD4 (E113Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2151772	NM_001370298.3(FGD4):c.1548A>G (p.Ser516=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2148081	NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)	FGD4 (A240T +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2146859	NM_001370298.3(FGD4):c.621C>T (p.His207=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2144417	NM_001370298.3(FGD4):c.2314-18T>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2141629	NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)	FGD4 (E498D +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2137246	NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)	FGD4 (N130T +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2122304	NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)	FGD4 (R106L +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2114796	NM_001370298.3(FGD4):c.1248-3C>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2102422	NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)	FGD4 (Q280* +3 more)	Single nucleotide variant (nonsense +3 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2101556	NM_001370298.3(FGD4):c.2230T>C (p.Leu744=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2093799	NM_001370298.3(FGD4):c.798T>C (p.Asn266=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2093795	NM_001370298.3(FGD4):c.2259A>C (p.Gln753His)	FGD4 (Q523H +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2090733	NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)	FGD4 (K284del +6 more)	Deletion (inframe_indel +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2084683	NM_001370298.3(FGD4):c.1012-11C>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2082839	NM_001370298.3(FGD4):c.1248-19T>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2080538	NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)	FGD4 (A151T +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2074095	NM_001370298.3(FGD4):c.1200C>T (p.Phe400=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 2073350	NM_001370298.3(FGD4):c.1543+18del	FGD4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2068997	NM_001370298.3(FGD4):c.1543+9T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2064787	NM_001370298.3(FGD4):c.2325A>G (p.Ala775=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2049082	NM_001370298.3(FGD4):c.2457C>T (p.Asp819=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2039797	NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)	FGD4 (S161A +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2036755	NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)	FGD4 (A138P +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2033957	NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)	FGD4 (P166S +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2028752	NM_001370298.3(FGD4):c.2172+11T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2026713	NM_001370298.3(FGD4):c.2173-19T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2026074	NM_001370298.3(FGD4):c.2076A>G (p.Arg692=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2025680	NM_001370298.3(FGD4):c.2172+7del	FGD4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2021789	NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)	FGD4 (L299I +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance

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