ClinVar for Gene (Select 9896) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1018

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095199	NM_014845.6(FIG4):c.479C>G (p.Ser160Cys)	FIG4 (S160C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095198	NM_014845.6(FIG4):c.2377-1G>A	FIG4	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 3095197	NM_014845.6(FIG4):c.1652T>C (p.Val551Ala)	FIG4 (V551A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067794	NC_000006.12:g.109877842C>T	FIG4	Single nucleotide variant	not provided	GUncertain significance
Select item 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 3062884	GRCh37/hg19 6q21(chr6:109925900-110080533)x1	AK9, FIG4	Copy number loss	not specified	GPathogenic
Select item 3045481	NM_014845.6(FIG4):c.2547-3T>C	FIG4	Single nucleotide variant (intron variant)	FIG4-related disorder	GLikely benign
Select item 3032281	NM_014845.6(FIG4):c.166-5C>T	FIG4	Single nucleotide variant (intron variant)	FIG4-related disorder	GLikely benign
Select item 3031557	NM_014845.6(FIG4):c.164G>A (p.Arg55Lys)	FIG4 (R55K)	Single nucleotide variant (missense variant)	FIG4-related disorder	GUncertain significance
Select item 3030421	NM_014845.6(FIG4):c.2316_2317del (p.Gln774fs)	FIG4 (Q774fs)	Microsatellite (frameshift variant)	FIG4-related disorder	GLikely pathogenic
Select item 3029809	NM_014845.6(FIG4):c.1833A>G (p.Pro611=)	FIG4	Single nucleotide variant (synonymous variant)	FIG4-related disorder	GLikely benign
Select item 3027470	NM_014845.6(FIG4):c.863G>A (p.Gly288Asp)	FIG4 (G288D)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3022730	NM_014845.6(FIG4):c.290-20C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022453	NM_014845.6(FIG4):c.1389-15T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3022097	NM_014845.6(FIG4):c.2136A>G (p.Pro712=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3021808	NM_014845.6(FIG4):c.67-18A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3021334	NM_014845.6(FIG4):c.1287T>A (p.Val429=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3018733	NM_014845.6(FIG4):c.1290T>C (p.Leu430=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3017119	NM_014845.6(FIG4):c.1389-19T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016386	NM_014845.6(FIG4):c.1435-6C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3016223	NM_014845.6(FIG4):c.285T>A (p.Val95=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3013906	NM_014845.6(FIG4):c.2377-6C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3008137	NM_014845.6(FIG4):c.1040-18A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3008006	NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)	FIG4 (L490*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3003437	NM_014845.6(FIG4):c.1583+7C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3000982	NM_014845.6(FIG4):c.1039+7G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3000360	NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)	FIG4 (W635*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2995042	NM_014845.6(FIG4):c.1435-4T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2979606	NM_014845.6(FIG4):c.2377-19_2377-18insC	FIG4	Insertion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2977804	NM_014845.6(FIG4):c.1040-16C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2963158	NM_014845.6(FIG4):c.2096+10G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2959384	NM_014845.6(FIG4):c.290-5C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2958251	NM_014845.6(FIG4):c.2124T>C (p.Ile708=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2917669	NM_014845.6(FIG4):c.1040-1G>A	FIG4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2917052	NM_014845.6(FIG4):c.2073C>T (p.Cys691=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2916874	NM_014845.6(FIG4):c.775+20del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 2916088	NM_014845.6(FIG4):c.1380A>G (p.Pro460=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2904109	NM_014845.6(FIG4):c.2377-12_2377-10del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 2903796	NM_014845.6(FIG4):c.166-16A>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2903013	NM_014845.6(FIG4):c.1545T>A (p.Ile515=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2894978	NM_014845.6(FIG4):c.2208A>G (p.Val736=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2892975	NM_014845.6(FIG4):c.2096+11T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2892168	NM_014845.6(FIG4):c.647-4del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 2884933	NM_014845.6(FIG4):c.2377-7del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2884558	NM_014845.6(FIG4):c.2127T>C (p.Asp709=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2863099	NM_014845.6(FIG4):c.647-10del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GBenign
Select item 2860155	NM_014845.6(FIG4):c.1134del (p.Lys379fs)	FIG4 (K379fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2856466	NM_014845.6(FIG4):c.66+17G>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2855392	NM_014845.6(FIG4):c.2415C>T (p.Asn805=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2852109	NM_014845.6(FIG4):c.1885A>C (p.Arg629=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2851710	NM_014845.6(FIG4):c.647-20T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2845485	NM_014845.6(FIG4):c.1949-18A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2844728	NM_014845.6(FIG4):c.2377-13_2377-10del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2839143	NM_014845.6(FIG4):c.66+9C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2836733	NM_014845.6(FIG4):c.1949-6_1949-3del	FIG4	Deletion (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2828266	NM_014845.6(FIG4):c.1A>G (p.Met1Val)	FIG4 (M1V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2814343	NM_014845.6(FIG4):c.165+2T>G	FIG4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2812626	NM_014845.6(FIG4):c.289+13C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2802142	NM_014845.6(FIG4):c.1374G>A (p.Leu458=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2801980	NM_014845.6(FIG4):c.1584-10C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2800883	NM_014845.6(FIG4):c.1065T>C (p.His355=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2779974	NM_014845.6(FIG4):c.775+10C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2779711	NM_014845.6(FIG4):c.486T>C (p.Asn162=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2779672	NM_014845.6(FIG4):c.1138-18G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2772791	NM_014845.6(FIG4):c.66+19C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2770813	NM_014845.6(FIG4):c.2376+13G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2770604	NM_014845.6(FIG4):c.166-10T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2769596	NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)	FIG4 (Q572*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2768292	NM_014845.6(FIG4):c.877-7T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2766808	NM_014845.6(FIG4):c.1071T>C (p.Ala357=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2759769	NM_014845.6(FIG4):c.1272-20A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2757316	NM_014845.6(FIG4):c.1227del (p.His409fs)	FIG4 (H409fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2755923	NM_014845.6(FIG4):c.2376+1G>A	FIG4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 2751455	NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2740521	NM_014845.6(FIG4):c.1949-5C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2733913	NM_014845.6(FIG4):c.1215G>A (p.Leu405=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2730381	NM_014845.6(FIG4):c.289+19T>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2730207	NM_014845.6(FIG4):c.2459+8A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2717628	NM_014845.6(FIG4):c.1221T>C (p.Pro407=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2716521	NM_014845.6(FIG4):c.1039+14T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2714815	NM_014845.6(FIG4):c.165+10C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2714554	NM_014845.6(FIG4):c.1272-14C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2714522	NM_014845.6(FIG4):c.1710C>T (p.Ile570=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2704898	NM_014845.6(FIG4):c.591C>T (p.Arg197=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2704724	NM_014845.6(FIG4):c.1764A>G (p.Gln588=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2701320	NM_014845.6(FIG4):c.2176T>C (p.Leu726=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2684192	NM_014845.6(FIG4):c.295G>T (p.Val99Phe)	FIG4 (V99F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684191	NM_014845.6(FIG4):c.1889+1G>T	FIG4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2682947	NM_014845.6(FIG4):c.790G>A (p.Gly264Arg)	FIG4 (G264R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682946	NM_014845.6(FIG4):c.644G>A (p.Ser215Asn)	FIG4 (S215N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673074	NM_014845.6(FIG4):c.711A>G (p.Ile237Met)	FIG4 (I237M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664441	NM_014845.6(FIG4):c.67-1G>T	FIG4	Single nucleotide variant (splice acceptor variant)	Amyotrophic lateral sclerosis	GUncertain significance
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 2664439	NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly)	FIG4 (R388G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2664438	NM_014845.6(FIG4):c.143A>G (p.Asp48Gly)	FIG4 (D48G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2664437	NM_014845.6(FIG4):c.837T>G (p.Phe279Leu)	FIG4 (F279L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2656836	NM_014845.6(FIG4):c.964G>T (p.Val322Leu)	FIG4 (V322L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656835	NM_014845.6(FIG4):c.868A>G (p.Asn290Asp)	FIG4 (N290D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656834	NM_014845.6(FIG4):c.858A>G (p.Lys286=)	FIG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656833	NM_014845.6(FIG4):c.267G>A (p.Ala89=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign

<< First< Prev

Page of 11