Related gene-specific medical variations for Gene (Select 90678) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3362221	NM_001005373.4(LRSAM1):c.1946C>T (p.Pro649Leu)	LRSAM1 (P386L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360504	NM_001005373.4(LRSAM1):c.1313A>C (p.Asp438Ala)	LRSAM1 (D175A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2689384	NM_001005373.4(LRSAM1):c.764A>T (p.Asp255Val)	LRSAM1 (D255V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 1324683	NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter)	LRSAM1 (R173*)	Single nucleotide variant (nonsense +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 1324682	NM_001005373.4(LRSAM1):c.1641C>G (p.Tyr547Ter)	LRSAM1 (Y520* +2 more)	Single nucleotide variant (nonsense +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 987260	NM_001005373.4(LRSAM1):c.529-2A>G	LRSAM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 931649	NM_001005373.4(LRSAM1):c.1102C>T (p.Gln368Ter)	LRSAM1 (Q368* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 913229	NM_001005373.4(LRSAM1):c.-302C>T	LOC130002648, LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 913228	NM_001005373.4(LRSAM1):c.-308G>A	LOC130002648, LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 695015	NM_001005373.4(LRSAM1):c.2134_2145del (p.Asp712_Gln715del)	LRSAM1	Deletion (inframe_deletion +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 695012	NM_001005373.4(LRSAM1):c.1775A>C (p.His592Pro)	LRSAM1 (H592P +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 695011	NM_001005373.4(LRSAM1):c.119del (p.Glu40fs)	LRSAM1 (E40fs)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 695010	NM_001005373.4(LRSAM1):c.86G>C (p.Gly29Ala)	LRSAM1 (G29A)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 365002	NM_001005373.4(LRSAM1):c.-316C>T	LOC130002648, LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GBenign/Likely benign