ClinVar for MedGen (Select 482427) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899272	NM_001005373.4(LRSAM1):c.2046+1G>C	LRSAM1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 3896906	NM_001005373.4(LRSAM1):c.1118C>A (p.Thr373Asn)	LRSAM1 (T110N +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3891605	NM_001005373.4(LRSAM1):c.700A>G (p.Ser234Gly)	LRSAM1 (S234G)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3767131	NM_001005373.4(LRSAM1):c.2101C>T (p.Gln701Ter)	LRSAM1 (Q438* +3 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 3729414	NM_001005373.4(LRSAM1):c.2151C>G (p.Leu717=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3729061	NM_001005373.4(LRSAM1):c.253-14T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3727854	NM_001005373.4(LRSAM1):c.1573C>T (p.Arg525Ter)	LRSAM1 (R262* +2 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 3725155	NM_001005373.4(LRSAM1):c.1731C>A (p.Leu577=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3723596	NM_001005373.4(LRSAM1):c.2046+5del	LRSAM1	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3723245	NM_001005373.4(LRSAM1):c.253-15G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3720689	NM_001005373.4(LRSAM1):c.1453C>A (p.Leu485Met)	LRSAM1 (L485M +1 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3720043	NM_001005373.4(LRSAM1):c.903+12G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3713219	NM_001005373.4(LRSAM1):c.1028T>A (p.Leu343Gln)	LRSAM1 (L343Q +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3710012	NM_001005373.4(LRSAM1):c.1504-16G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3708636	NM_001005373.4(LRSAM1):c.2046+13C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3707490	NM_001005373.4(LRSAM1):c.751-16C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3707464	NM_001005373.4(LRSAM1):c.967C>T (p.Arg323Trp)	LRSAM1 (R323W +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3705640	NM_001005373.4(LRSAM1):c.322-2A>G	LRSAM1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 3704441	NM_001005373.4(LRSAM1):c.1222T>A (p.Ser408Thr)	LRSAM1 (S408T +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3704299	NM_001005373.4(LRSAM1):c.817C>T (p.Arg273Cys)	LRSAM1 (R10C +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3702566	NM_001005373.4(LRSAM1):c.1604A>C (p.Glu535Ala)	LRSAM1 (E272A +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3702503	NM_001005373.4(LRSAM1):c.620-14C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3702002	NM_001005373.4(LRSAM1):c.636C>T (p.Tyr212=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3701735	NM_001005373.4(LRSAM1):c.1887G>C (p.Leu629=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3699419	NM_001005373.4(LRSAM1):c.166C>T (p.Gln56Ter)	LRSAM1 (Q56*)	Single nucleotide variant (nonsense +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 3692375	NM_001005373.4(LRSAM1):c.1504-8G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3690785	NM_001005373.4(LRSAM1):c.175G>A (p.Val59Met)	LRSAM1 (V59M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3685438	NM_001005373.4(LRSAM1):c.143C>G (p.Ala48Gly)	LRSAM1 (A48G)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3682585	NM_001005373.4(LRSAM1):c.442G>C (p.Glu148Gln)	LRSAM1 (E148Q)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3682300	NM_001005373.4(LRSAM1):c.1200G>A (p.Arg400=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3677058	NM_001005373.4(LRSAM1):c.1351G>C (p.Ala451Pro)	LRSAM1 (A451P +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3672172	NM_001005373.4(LRSAM1):c.1504-10T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3672097	NM_001005373.4(LRSAM1):c.300G>C (p.Leu100=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3668110	NM_001005373.4(LRSAM1):c.2052G>C (p.Gln684His)	LRSAM1 (Q651H +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3666771	NM_001005373.4(LRSAM1):c.500A>G (p.Gln167Arg)	LRSAM1 (Q167R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3664898	NM_001005373.4(LRSAM1):c.2049C>T (p.Ala683=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3662751	NM_001005373.4(LRSAM1):c.2123T>G (p.Leu708Arg)	LRSAM1 (L681R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3659614	NM_001005373.4(LRSAM1):c.1719G>T (p.Gln573His)	LRSAM1 (Q310H +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3648651	NM_001005373.4(LRSAM1):c.996_1015dup (p.Ile339fs)	LRSAM1 (I339fs +1 more)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 3648515	NM_001005373.4(LRSAM1):c.751-20C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3648191	NM_001005373.4(LRSAM1):c.304C>T (p.Gln102Ter)	LRSAM1 (Q102*)	Single nucleotide variant (nonsense +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 3647972	NM_001005373.4(LRSAM1):c.2029del (p.Val677fs)	LRSAM1 (V414fs +3 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 3640442	NM_001005373.4(LRSAM1):c.903+16G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3640441	NM_001005373.4(LRSAM1):c.804C>A (p.Leu268=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3639846	NM_001005373.4(LRSAM1):c.322-12C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3630889	NM_001005373.4(LRSAM1):c.1830+15T>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3626619	NM_001005373.4(LRSAM1):c.12C>A (p.Phe4Leu)	LRSAM1 (F4L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3624787	NM_001005373.4(LRSAM1):c.1157C>T (p.Ala386Val)	LRSAM1 (A123V +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3620451	NM_001005373.4(LRSAM1):c.1584G>A (p.Glu528=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3619332	NM_001005373.4(LRSAM1):c.1831-14T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3619276	NM_001005373.4(LRSAM1):c.911C>A (p.Ser304Tyr)	LRSAM1 (S304Y +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3614692	NM_001005373.4(LRSAM1):c.1307A>T (p.Gln436Leu)	LRSAM1 (Q173L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3614678	NM_001005373.4(LRSAM1):c.1860C>G (p.His620Gln)	LRSAM1 (H357Q +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3614660	NM_001005373.4(LRSAM1):c.135A>G (p.Pro45=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3614429	NM_001005373.4(LRSAM1):c.2156T>C (p.Ile719Thr)	LRSAM1 (I456T +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3610993	NM_001005373.4(LRSAM1):c.952A>C (p.Asn318His)	LRSAM1 (N318H +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3603669	NM_001005373.4(LRSAM1):c.886C>T (p.Leu296Phe)	LRSAM1 (L296F +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3603664	NM_001005373.4(LRSAM1):c.2114C>T (p.Thr705Ile)	LRSAM1 (T442I +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3376021	NM_001005373.4(LRSAM1):c.709G>A (p.Gly237Arg)	LRSAM1 (G237R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3366289	NM_001005373.4(LRSAM1):c.529-15C>G	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3341092	NM_001005373.4(LRSAM1):c.1190del (p.Cys397fs)	LRSAM1 (C134fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 3245251	NC_000009.11:g.(?_130241724)_(130244069_?)del	LRSAM1	Deletion	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 3245250	NC_000009.11:g.(?_130216807)_(130217919_?)dup	LRSAM1	Duplication	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3236581	NM_001005373.4(LRSAM1):c.-32-3dup	LRSAM1	Duplication (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3019679	NM_001005373.4(LRSAM1):c.2010G>A (p.Val670=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3019251	NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)	LRSAM1 (V670M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3019249	NM_001005373.4(LRSAM1):c.1913-12T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3019144	NM_001005373.4(LRSAM1):c.750+15C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 3015148	NM_001005373.4(LRSAM1):c.2029G>A (p.Val677Met)	LRSAM1 (V644M +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3009237	NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)	LRSAM1 (Q56K)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3003217	NM_001005373.4(LRSAM1):c.528+8G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2994895	NM_001005373.4(LRSAM1):c.903+13C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2992491	NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)	LRSAM1 (R252S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2992171	NM_001005373.4(LRSAM1):c.1831-19C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2990503	NM_001005373.4(LRSAM1):c.528+6T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2982458	NM_001005373.4(LRSAM1):c.1159+5G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2981889	NM_001005373.4(LRSAM1):c.1371C>T (p.Phe457=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2978667	NM_001005373.4(LRSAM1):c.1299G>A (p.Ser433=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2976923	NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)	LRSAM1 (N55S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2968829	NM_001005373.4(LRSAM1):c.1043+18G>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2967409	NM_001005373.4(LRSAM1):c.191C>T (p.Thr64Met)	LRSAM1 (T64M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2959599	NM_001005373.4(LRSAM1):c.73-14C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2959407	NM_001005373.4(LRSAM1):c.1922C>T (p.Pro641Leu)	LRSAM1 (P378L +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2921155	NM_001005373.4(LRSAM1):c.22C>G (p.Arg8Gly)	LRSAM1 (R8G)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2919457	NM_001005373.4(LRSAM1):c.1913-5dup	LRSAM1	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GBenign
Select item 2919115	NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)	LRSAM1 (G124R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2918084	NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)	LRSAM1 (P214S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2917314	NM_001005373.4(LRSAM1):c.1503+13C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2915786	NM_001005373.4(LRSAM1):c.744G>A (p.Glu248=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2915087	NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)	LRSAM1 (Q461R +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2913480	NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)	LRSAM1 (Q253* +2 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 2911855	NM_001005373.4(LRSAM1):c.253-17G>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2911829	NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)	LRSAM1 (R539G +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2909300	NM_001005373.4(LRSAM1):c.1775A>G (p.His592Arg)	LRSAM1 (H592R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2905803	NM_001005373.4(LRSAM1):c.1778A>G (p.His593Arg)	LRSAM1 (H330R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2904608	NM_001005373.4(LRSAM1):c.1599+19T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2903865	NM_001005373.4(LRSAM1):c.1830+8G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2901484	NM_001005373.4(LRSAM1):c.751-18_751-15del	LRSAM1	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2900211	NM_001005373.4(LRSAM1):c.1088+19G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2899650	NM_001005373.4(LRSAM1):c.620-11G>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign

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