"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LRSAM1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1055518	NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)	LRSAM1 (R17C)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1449877	NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg)	LRSAM1 (Q21R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 572610	NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser)	LRSAM1 (A28S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 917124	NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)	LRSAM1 (R121H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +2 more	GUncertain significance
Select item 1013966	NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met)	LRSAM1 (V146M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1450447	NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val)	LRSAM1 (I162V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 408266	NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu)	LRSAM1 (P166L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 245644	NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)	LRSAM1 (G196S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +3 more	GConflicting classifications of pathogenicity
Select item 365017	NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)	LRSAM1 (E229K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1036561	NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu)	LRSAM1 (D240E)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +2 more	GUncertain significance
Select item 800222	NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg)	LRSAM1 (L306R +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +2 more	GConflicting classifications of pathogenicity
Select item 656990	NM_001005373.4(LRSAM1):c.1088+1G>C	LRSAM1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GConflicting classifications of pathogenicity
Select item 578496	NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)	LRSAM1 (V385I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392156	NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln)	LRSAM1 (R530Q +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GUncertain significance
Select item 837956	NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met)	LRSAM1 (V584M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 835380	NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met)	LRSAM1 (T623M +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GUncertain significance
Select item 651567	NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)	LRSAM1 (E647fs +3 more)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +3 more	GPathogenic/Likely pathogenic
Select item 639095	NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr)	LRSAM1 (C696Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 539996	NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)	LRSAM1 (R704C +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +2 more	GUncertain significance
Select item 472800	NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)	LRSAM1 (R704H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 20