"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLC18A2 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 741569	NM_003054.6(SLC18A2):c.9G>A (p.Leu3=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438268	NM_003054.6(SLC18A2):c.13G>A (p.Glu5Lys)	SLC18A2, SLC18A2-AS1 (E5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180259	NM_003054.6(SLC18A2):c.20C>T (p.Ala7Val)	SLC18A2, SLC18A2-AS1 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747914	NM_003054.6(SLC18A2):c.27C>T (p.Val9=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475093	NM_003054.6(SLC18A2):c.28C>G (p.Arg10Gly)	SLC18A2, SLC18A2-AS1 (R10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793810	NM_003054.6(SLC18A2):c.46_55del (p.Arg16fs)	SLC18A2, SLC18A2-AS1 (R16fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1362450	NM_003054.6(SLC18A2):c.45C>A (p.Ser15Arg)	SLC18A2, SLC18A2-AS1 (S15R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2058367	NM_003054.6(SLC18A2):c.49C>T (p.Arg17Cys)	SLC18A2, SLC18A2-AS1 (R17C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3000711	NM_003054.6(SLC18A2):c.51C>G (p.Arg17=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1965587	NM_003054.6(SLC18A2):c.81C>T (p.Phe27=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1921726	NM_003054.6(SLC18A2):c.93G>A (p.Leu31=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051409	NM_003054.6(SLC18A2):c.107T>C (p.Leu36Pro)	SLC18A2, SLC18A2-AS1 (L36P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743190	NM_003054.6(SLC18A2):c.111C>T (p.Leu37=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903427	NM_003054.6(SLC18A2):c.117C>A (p.Val39=)	SLC18A2, SLC18A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642943	NM_003054.6(SLC18A2):c.121+13A>G	SLC18A2, SLC18A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign