"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC6A9"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635524	NM_001024845.3(SLC6A9):c.1833C>A (p.His611Gln)	SLC6A9 (H443Q +7 more)	Single nucleotide variant (missense variant +1 more)	SLC6A9-related disorder	GUncertain significance
Select item 735203	NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=)	SLC6A9	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 2634075	NM_001024845.3(SLC6A9):c.1403G>C (p.Cys468Ser)	SLC6A9 (C357S +6 more)	Single nucleotide variant (missense variant +1 more)	SLC6A9-related disorder	GUncertain significance
Select item 1574798	NM_001024845.3(SLC6A9):c.1104C>T (p.Phe368=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder +1 more	GLikely benign
Select item 1646345	NM_001024845.3(SLC6A9):c.859-10T>C	SLC6A9	Single nucleotide variant (intron variant)	SLC6A9-related disorder +1 more	GLikely benign
Select item 1169776	NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder +2 more	GBenign
Select item 784655	NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 3031017	NM_001024845.3(SLC6A9):c.516C>T (p.Ala172=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder	GLikely benign
Select item 3035479	NM_001024845.3(SLC6A9):c.417G>A (p.Thr139=)	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder	GLikely benign
Select item 1082192	NM_001024845.3(SLC6A9):c.31-700G>A	SLC6A9	Single nucleotide variant (synonymous variant +1 more)	SLC6A9-related disorder +1 more	GLikely benign
Select item 3052075	NM_001024845.3(SLC6A9):c.-4C>T	SLC6A9	Single nucleotide variant (5 prime UTR variant)	SLC6A9-related disorder	GLikely benign
Select item 3055410	NM_001024845.3(SLC6A9):c.-7C>T	SLC6A9	Single nucleotide variant (5 prime UTR variant)	SLC6A9-related disorder	GBenign