9896[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 148323	GRCh38/hg38 6q21(chr6:109612069-109749371)x1	AK9, FIG4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 668144	NM_001145128.3(AK9):c.-12+76T>C	AK9, FIG4 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 355024	NM_014845.5(FIG4):c.-182G>A	FIG4	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
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 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 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 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 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 355029	NM_014845.6(FIG4):c.-121G>A	FIG4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
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 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 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 476840	NC_000006.12:g.(?_109691416)_(109691521_?)del	FIG4	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 1431306	NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)	FIG4	Deletion (inframe_deletion +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 572049	NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup)	FIG4	Duplication (inframe_insertion +1 more)	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 959208	NM_014845.6(FIG4):c.1A>C (p.Met1Leu)	FIG4 (M1L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 1979366	NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)	FIG4 (T3S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 476851	NM_014845.6(FIG4):c.14C>T (p.Ala5Val)	FIG4 (A5V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1667752	NM_014845.6(FIG4):c.15C>T (p.Ala5=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 840697	NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)	FIG4 (A6S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1917074	NM_014845.6(FIG4):c.21del (p.Ile8fs)	FIG4 (I8fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2099177	NM_014845.6(FIG4):c.18C>G (p.Ala6=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1399875	NM_014845.6(FIG4):c.19C>T (p.Pro7Ser)	FIG4 (P7S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 1410893	NM_014845.6(FIG4):c.29G>A (p.Ser10Asn)	FIG4 (S10N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 1733082	NM_014845.6(FIG4):c.35T>C (p.Val12Ala)	FIG4 (V12A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386046	NM_014845.6(FIG4):c.38A>G (p.Gln13Arg)	FIG4 (Q13R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 700731	NM_014845.6(FIG4):c.42G>A (p.Lys14=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
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 856733	NM_014845.6(FIG4):c.52T>C (p.Tyr18His)	FIG4 (Y18H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 951520	NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)	FIG4 (Y18C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 701038	NM_014845.6(FIG4):c.54T>C (p.Tyr18=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1461439	NM_014845.6(FIG4):c.57G>C (p.Glu19Asp)	FIG4 (E19D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1307003	NM_014845.6(FIG4):c.57G>A (p.Glu19=)	FIG4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2055623	NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)	FIG4 (R21G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1014776	NM_014845.6(FIG4):c.62G>A (p.Arg21Lys)	FIG4 (R21K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 698762	NM_014845.6(FIG4):c.66+8C>T	FIG4	Single nucleotide variant (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 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 2193985	NM_014845.6(FIG4):c.66+11C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 515711	NM_014845.6(FIG4):c.66+13dup	FIG4	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 1545481	NM_014845.6(FIG4):c.66+14C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
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 917073	NM_014845.6(FIG4):c.66+18G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	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 2052019	NM_014845.6(FIG4):c.66+20G>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1222760	NM_014845.6(FIG4):c.67-165T>C	FIG4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1949771	NM_014845.6(FIG4):c.67-15C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2097256	NM_014845.6(FIG4):c.67-8A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely 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 2664441	NM_014845.6(FIG4):c.67-1G>T	FIG4	Single nucleotide variant (splice acceptor variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2148227	NM_014845.6(FIG4):c.67-1G>A	FIG4	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 1383692	NM_014845.6(FIG4):c.67A>G (p.Arg23Gly)	FIG4 (R23G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 857991	NM_014845.6(FIG4):c.69A>G (p.Arg23=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 543402	NM_014845.6(FIG4):c.80T>C (p.Val27Ala)	FIG4 (V27A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 476850	NM_014845.6(FIG4):c.101C>T (p.Thr34Met)	FIG4 (T34M)	Single nucleotide variant (missense variant)	FIG4-related condition +3 more	GUncertain significance
Select item 585868	NM_014845.6(FIG4):c.102G>A (p.Thr34=)	FIG4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 917076	NM_014845.6(FIG4):c.105A>G (p.Lys35=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 1504666	NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys)	FIG4 (Y36C)	Single nucleotide variant (missense variant)	FIG4-related condition +1 more	GUncertain significance
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 573057	NM_014845.6(FIG4):c.110G>A (p.Arg37His)	FIG4 (R37H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1519273	NM_014845.6(FIG4):c.112G>A (p.Val38Ile)	FIG4 (V38I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1113998	NM_014845.6(FIG4):c.114C>T (p.Val38=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 859963	NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)	FIG4 (L39S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1945406	NM_014845.6(FIG4):c.117G>A (p.Leu39=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 570744	NM_014845.6(FIG4):c.120G>T (p.Lys40Asn)	FIG4 (K40N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 859627	NM_014845.6(FIG4):c.121A>G (p.Ile41Val)	FIG4 (I41V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +8 more	GPathogenic/Likely pathogenic
Select item 1053303	NM_014845.6(FIG4):c.125A>G (p.Asp42Gly)	FIG4 (D42G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1009313	NM_014845.6(FIG4):c.131C>T (p.Thr44Ile)	FIG4 (T44I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1558575	NM_014845.6(FIG4):c.132A>G (p.Thr44=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1441994	NM_014845.6(FIG4):c.136C>T (p.Pro46Ser)	FIG4 (P46S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 572719	NM_014845.6(FIG4):c.137C>G (p.Pro46Arg)	FIG4 (P46R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1983789	NM_014845.6(FIG4):c.138A>C (p.Pro46=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
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 1952309	NM_014845.6(FIG4):c.156del (p.Ile52fs)	FIG4 (I52fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 639325	NM_014845.6(FIG4):c.155T>C (p.Ile52Thr)	FIG4 (I52T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1426827	NM_014845.6(FIG4):c.157G>A (p.Asp53Asn)	FIG4 (D53N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1728	NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)	FIG4 (D53Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 3031557	NM_014845.6(FIG4):c.164G>A (p.Arg55Lys)	FIG4 (R55K)	Single nucleotide variant (missense variant)	FIG4-related condition	GUncertain significance
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 1980794	NM_014845.6(FIG4):c.165+2T>C	FIG4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 1535996	NM_014845.6(FIG4):c.165+8T>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 1541107	NM_014845.6(FIG4):c.165+17C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 681694	NM_014845.6(FIG4):c.165+100A>T	FIG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200722	NM_014845.6(FIG4):c.165+228C>T	FIG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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