ClinVar for MedGen (Select 370808) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664440	NM_014845.6(FIG4):c.1231A>G (p.Ile411Val)	FIG4 (I411V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J	GUncertain significance
Select item 2585617	NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)	FIG4 (S168R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +2 more	GUncertain significance
Select item 2442211	NM_014845.6(FIG4):c.394A>G (p.Met132Val)	FIG4 (M132V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J	GUncertain significance
Select item 2440262	NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)	FIG4 (S258*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4J +1 more	GPathogenic/Likely pathogenic
Select item 1710074	NM_014845.6(FIG4):c.446+2T>C	FIG4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4J	GLikely pathogenic
Select item 1678605	NM_014845.6(FIG4):c.400T>C (p.Tyr134His)	FIG4 (Y134H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J	GUncertain significance
Select item 1415800	NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr)	FIG4 (I902T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1299662	NM_014845.6(FIG4):c.2174dup (p.Leu726fs)	FIG4 (L726fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4J	GPathogenic
Select item 1061234	NM_014845.6(FIG4):c.827C>T (p.Ser276Phe)	FIG4 (S276F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 944958	NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)	FIG4 (R766W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 938191	NM_014845.6(FIG4):c.2547-1G>A	FIG4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 917314	NM_014845.6(FIG4):c.446+32dup	FIG4	Duplication (intron variant)	not provided +5 more	GBenign
Select item 917083	NM_014845.6(FIG4):c.447-17dup	FIG4	Duplication (intron variant)	Amyotrophic lateral sclerosis type 11 +6 more	GBenign/Likely benign
Select item 917077	NM_014845.6(FIG4):c.447-16delinsTT	FIG4	Indel (intron variant)	Amyotrophic lateral sclerosis type 11 +4 more	GLikely benign
Select item 907038	NM_014845.6(FIG4):c.2546+5G>C	FIG4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 907037	NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)	FIG4 (T741M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 906020	NM_014845.6(FIG4):c.2096+3A>G	FIG4	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 905581	NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)	FIG4 (M897T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 905509	NM_014845.6(FIG4):c.1889+9C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 904721	NM_014845.6(FIG4):c.1482C>T (p.Asn494=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 904574	NM_014845.5(FIG4):c.-152C>A	FIG4	Single nucleotide variant	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 804806	NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)	FIG4 (F815S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +7 more	GUncertain significance
Select item 695179	NM_014845.6(FIG4):c.658A>G (p.Ile220Val)	FIG4 (I220V)	Single nucleotide variant (missense variant)	FIG4-related condition +5 more	GConflicting classifications of pathogenicity
Select item 694988	NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)	FIG4 (P851L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 694980	NM_014845.6(FIG4):c.447-3dup	FIG4	Duplication (intron variant)	Yunis-Varon syndrome +6 more	GBenign
Select item 673596	NM_014845.6(FIG4):c.1948+46C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4J +4 more	GBenign
Select item 663445	NM_014845.6(FIG4):c.1271+5A>G	FIG4	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 638361	NM_014845.6(FIG4):c.290-2A>G	FIG4	Single nucleotide variant (splice acceptor variant)	Bilateral parasagittal parieto-occipital polymicrogyria +2 more	GPathogenic
Select item 637528	NM_014845.6(FIG4):c.877-2A>C	FIG4	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 637527	NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)	FIG4 (K559*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 637526	NM_014845.6(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)	FIG4	Indel (nonsense)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 637525	NM_014845.6(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs)	FIG4 (G264fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease type 4J +1 more	GUncertain significance
Select item 637500	NM_014845.6(FIG4):c.2299dup (p.Glu767fs)	FIG4 (E767fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 637086	NM_014845.6(FIG4):c.1986dup (p.Lys663fs)	FIG4 (K663fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 637085	NM_014845.6(FIG4):c.1149_1150delinsT (p.Lys383fs)	FIG4 (K383fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 587490	NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)	FIG4 (R69C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +6 more	GUncertain significance
Select item 585870	NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)	FIG4 (S787N)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome +6 more	GUncertain significance
Select item 567685	NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)	FIG4 (Q796*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic/Likely pathogenic
Select item 543496	NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)	FIG4 (G214R)	Single nucleotide variant (missense variant)	FIG4-related condition +5 more	GConflicting classifications of pathogenicity
Select item 543424	NM_014845.6(FIG4):c.109C>T (p.Arg37Cys)	FIG4 (R37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 488991	NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)	FIG4 (R265*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4J +3 more	GPathogenic
Select item 476864	NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)	FIG4 (R899*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 476860	NM_014845.6(FIG4):c.2460-8A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 447336	NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	FIG4 (Q823*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 420149	NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	FIG4 (W246*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 11 +7 more	GPathogenic
Select item 419553	NM_014845.6(FIG4):c.1373dup (p.Leu458fs)	FIG4 (L458fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic
Select item 407082	NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	FIG4 (K278N)	Single nucleotide variant (missense variant)	FIG4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 389842	NM_014845.6(FIG4):c.33G>C (p.Ser11=)	FIG4	Single nucleotide variant (synonymous variant)	FIG4-related condition +6 more	GConflicting classifications of pathogenicity
Select item 381005	NM_014845.6(FIG4):c.446+9G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 355052	NM_014845.6(FIG4):c.*120C>T	FIG4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 355051	NM_014845.6(FIG4):c.*29G>A	FIG4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 355050	NM_014845.6(FIG4):c.*7C>T	FIG4	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 355049	NM_014845.6(FIG4):c.2568G>T (p.Ser856=)	FIG4	Single nucleotide variant (synonymous variant)	FIG4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 355048	NM_014845.6(FIG4):c.2547-4A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4J +2 more	GConflicting classifications of pathogenicity
Select item 355047	NM_014845.6(FIG4):c.2547-5T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 355046	NM_014845.6(FIG4):c.2547-11A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 355045	NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)	FIG4 (R820S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 355044	NM_014845.6(FIG4):c.2223G>T (p.Thr741=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 355043	NM_014845.6(FIG4):c.2096G>A (p.Arg699His)	FIG4 (R699H)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome +4 more	GUncertain significance
Select item 355042	NM_014845.6(FIG4):c.1863C>A (p.Thr621=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 355041	NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)	FIG4 (F598Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 355040	NM_014845.6(FIG4):c.1666dup (p.Thr556fs)	FIG4 (T556fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic/Likely pathogenic
Select item 355039	NM_014845.6(FIG4):c.1272-10C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 355038	NM_014845.6(FIG4):c.1242T>C (p.Ile414=)	FIG4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 355037	NM_014845.6(FIG4):c.350C>T (p.Ala117Val)	FIG4 (A117V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355036	NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)	FIG4 (R88*)	Single nucleotide variant (nonsense)	FIG4-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 355035	NM_014845.6(FIG4):c.243A>G (p.Lys81=)	FIG4	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 11 +2 more	GConflicting classifications of pathogenicity
Select item 355034	NM_014845.6(FIG4):c.235G>A (p.Gly79Arg)	FIG4 (G79R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355033	NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)	FIG4 (Y58C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 355032	NM_014845.6(FIG4):c.-84A>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355031	NM_014845.6(FIG4):c.-112G>A	FIG4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355030	NM_014845.6(FIG4):c.-120C>T	FIG4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 355029	NM_014845.6(FIG4):c.-121G>A	FIG4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 355028	NM_014845.6(FIG4):c.-124A>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355027	NM_014845.6(FIG4):c.-132A>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355026	NM_014845.6(FIG4):c.-134C>G	FIG4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355025	NM_014845.6(FIG4):c.-138T>C	FIG4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 11 +1 more	GUncertain significance
Select item 355024	NM_014845.5(FIG4):c.-182G>A	FIG4	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 260452	NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)	FIG4 (T270A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 260450	NM_014845.6(FIG4):c.447-16G>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +7 more	GBenign/Likely benign
Select item 260449	NM_014845.6(FIG4):c.2559G>A (p.Ser853=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 260448	NM_014845.6(FIG4):c.2097-10C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 260447	NM_014845.6(FIG4):c.1948+3A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 260446	NM_014845.6(FIG4):c.1584-8T>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 260444	NM_014845.6(FIG4):c.*14C>T	FIG4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 254671	NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)	FIG4 (Y647C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 254668	NM_014845.6(FIG4):c.759del (p.Phe254fs)	FIG4	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic
Select item 246120	NM_014845.6(FIG4):c.2459+1G>A	FIG4	Single nucleotide variant (splice donor variant)	FIG4-related condition +4 more	GPathogenic/Likely pathogenic
Select item 234661	NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)	FIG4 (E734K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 220332	NM_014845.6(FIG4):c.66+10C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 217228	NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)	FIG4 (R381*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4 +4 more	GPathogenic/Likely pathogenic
Select item 216681	NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)	FIG4 (S856L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 156016	NM_014845.6(FIG4):c.290-2A>T	FIG4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4J	GLikely pathogenic
Select item 156015	NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)	FIG4 (E302K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 156014	NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)	FIG4 (L17P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 137377	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)	FIG4 (V654A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 137376	NM_014845.6(FIG4):c.27C>T (p.Ile9=)	FIG4	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 11 +9 more	GBenign/Likely benign
Select item 137375	NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)	FIG4 (M364L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 137374	NM_014845.6(FIG4):c.67-7T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 50995	NM_014845.6(FIG4):c.831_838del (p.Lys278fs)	FIG4 (K278fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic

<< First< Prev

Page of 2