ClinVar for MedGen (Select 923704) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679834	NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)	ALS2 (Q1424*)	Single nucleotide variant (nonsense)	Juvenile amyotrophic lateral sclerosis +1 more	GPathogenic
Select item 1072015	NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)	SPG11 (Q1478*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1024648	NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)	SPG11 (P1468A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 873315	NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His)	PLEKHG5 (P630H +3 more)	Single nucleotide variant (missense variant)	Juvenile amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873314	NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)	PLEKHG5 (Q550* +3 more)	Single nucleotide variant (nonsense)	Juvenile amyotrophic lateral sclerosis	GPathogenic
Select item 873271	NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)	SYNE1 (R44* +2 more)	Single nucleotide variant (nonsense)	Juvenile amyotrophic lateral sclerosis	GPathogenic
Select item 873270	NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)	SYNE1 (Q7573* +1 more)	Single nucleotide variant (nonsense)	Juvenile amyotrophic lateral sclerosis	GPathogenic
Select item 873234	NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys)	FUS (Y525C +2 more)	Single nucleotide variant (missense variant +1 more)	Juvenile amyotrophic lateral sclerosis	GPathogenic
Select item 873226	NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)	ERLIN1 (V10A +1 more)	Single nucleotide variant (missense variant +2 more)	Juvenile amyotrophic lateral sclerosis	GPathogenic
Select item 664720	NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)	SPG11 (L1997Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566874	NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)	SPG11 (W1455C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +6 more	GUncertain significance
Select item 374112	NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SPG11 (L1794P)	Single nucleotide variant (missense variant)	Difficulty walking +7 more	GConflicting classifications of pathogenicity
Select item 280110	NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)	FUS (P525L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 209205	NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	VRK1 (R321C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 4807	NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)	TRPM7 (T1482I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity