ClinVar for Gene (Select 90678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3292119	NM_001005373.4(LRSAM1):c.1603G>A (p.Glu535Lys)	LRSAM1 (E508K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292118	NM_001005373.4(LRSAM1):c.198C>A (p.His66Gln)	LRSAM1 (H66Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	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 3233555	NM_001005373.4(LRSAM1):c.1879C>G (p.Gln627Glu)	LRSAM1 (Q364E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121235	NM_001005373.4(LRSAM1):c.1909C>G (p.Pro637Ala)	LRSAM1 (P637A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121234	NM_001005373.4(LRSAM1):c.1729C>G (p.Leu577Val)	LRSAM1 (L544V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063073	GRCh37/hg19 9q33.3-34.11(chr9:130211733-130365761)x1	LRSAM1, NIBAN2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3024934	NM_001005373.4(LRSAM1):c.1089-212G>A	LRSAM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Charcot-Marie-Tooth disease axonal type 2P	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
Select item 2895789	NM_001005373.4(LRSAM1):c.322-9C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2895525	NM_001005373.4(LRSAM1):c.1699-10T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2895462	NM_001005373.4(LRSAM1):c.564G>C (p.Pro188=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2895457	NM_001005373.4(LRSAM1):c.1698+6G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2895246	NM_001005373.4(LRSAM1):c.322-17C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2894967	NM_001005373.4(LRSAM1):c.2046+9G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2894239	NM_001005373.4(LRSAM1):c.406+20G>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2894068	NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)	LRSAM1 (M174I +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2892341	NM_001005373.4(LRSAM1):c.1817G>A (p.Gly606Glu)	LRSAM1 (G573E +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2892251	NM_001005373.4(LRSAM1):c.73-8A>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2892024	NM_001005373.4(LRSAM1):c.1962G>A (p.Glu654=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2887131	NM_001005373.4(LRSAM1):c.1606_1609dup (p.Glu537fs)	LRSAM1 (E510fs +2 more)	Duplication (frameshift variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 2879354	NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)	LRSAM1 (S499P +1 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2877247	NM_001005373.4(LRSAM1):c.2037G>A (p.Leu679=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2875253	NM_001005373.4(LRSAM1):c.1918A>G (p.Lys640Glu)	LRSAM1 (K613E +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2865557	NM_001005373.4(LRSAM1):c.1347+8_1347+20del	LRSAM1	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2864766	NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)	LRSAM1 (P444R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2858217	NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)	LRSAM1 (Q671* +3 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 2856212	NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2853096	NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)	LRSAM1 (T239R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2851522	NM_001005373.4(LRSAM1):c.2047-16C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2849728	NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)	LRSAM1	Duplication (inframe_insertion +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2847306	NM_001005373.4(LRSAM1):c.781-11G>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2846166	NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)	LRSAM1 (S351P +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2844440	NM_001005373.4(LRSAM1):c.1440T>C (p.Thr480=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2841243	NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)	LRSAM1 (D144A)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2840583	NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)	LRSAM1 (R232L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2840223	NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)	LRSAM1 (Q678* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 2840086	NM_001005373.4(LRSAM1):c.2033_2038del (p.Cys678_Glu680delinsTer)	LRSAM1	Deletion (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 2837787	NM_001005373.4(LRSAM1):c.1503+14C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2831213	NM_001005373.4(LRSAM1):c.1281A>G (p.Arg427=)	LRSAM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2826492	NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)	LRSAM1 (E321A +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2824453	NM_001005373.4(LRSAM1):c.1996_2017del (p.Ala666fs)	LRSAM1 (A639fs +3 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 2823327	NM_001005373.4(LRSAM1):c.904-3C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2820235	NM_001005373.4(LRSAM1):c.1911del (p.Glu638fs)	LRSAM1 (E375fs +3 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 2819230	NM_001005373.4(LRSAM1):c.1401G>C (p.Met467Ile)	LRSAM1 (M467I +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2819065	NM_001005373.4(LRSAM1):c.406+13A>G	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2817342	NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)	LRSAM1 (Q283E +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2816770	NM_001005373.4(LRSAM1):c.1680C>T (p.Pro560=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2806528	NM_001005373.4(LRSAM1):c.441G>A (p.Gly147=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2805963	NM_001005373.4(LRSAM1):c.1089-1G>C	LRSAM1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 2803727	NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)	LRSAM1 (S170L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2797124	NM_001005373.4(LRSAM1):c.904-16C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2790590	NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)	LRSAM1 (P189T)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2786072	NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)	LRSAM1 (Y143C +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2783411	NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)	LRSAM1 (R10P +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2781784	NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)	LRSAM1 (M185V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2772586	NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)	LRSAM1 (I44M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2766681	NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)	LRSAM1 (A50P)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2760656	NM_001005373.4(LRSAM1):c.2032T>C (p.Cys678Arg)	LRSAM1 (C645R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2760239	NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)	LRSAM1 (L270R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance

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