"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC7A5"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039582	NM_003486.7(SLC7A5):c.*9C>G	SLC7A5	Single nucleotide variant (3 prime UTR variant)	SLC7A5-related disorder	GLikely benign
Select item 3043891	NM_003486.7(SLC7A5):c.1347C>G (p.Val449=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GBenign
Select item 3037180	NM_003486.7(SLC7A5):c.1290+6C>A	SLC7A5	Single nucleotide variant (intron variant)	SLC7A5-related disorder	GLikely benign
Select item 3050193	NM_003486.7(SLC7A5):c.1141-4C>A	SLC7A5	Single nucleotide variant (intron variant)	SLC7A5-related disorder	GLikely benign
Select item 786640	NM_003486.7(SLC7A5):c.1131C>T (p.Leu377=)	LOC126862442, SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder +1 more	GBenign
Select item 3033310	NM_003486.7(SLC7A5):c.990C>T (p.Phe330=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GLikely benign
Select item 777064	NM_003486.7(SLC7A5):c.668A>T (p.Asp223Val)	SLC7A5 (D223V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 730064	NM_003486.7(SLC7A5):c.597C>T (p.Ala199=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder +1 more	GBenign
Select item 3059149	NM_003486.7(SLC7A5):c.552C>G (p.Ala184=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GLikely benign
Select item 3037627	NM_003486.7(SLC7A5):c.459C>T (p.Ala153=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GLikely benign
Select item 731128	NM_003486.7(SLC7A5):c.387C>T (p.Ala129=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder +1 more	GBenign
Select item 3056426	NM_003486.7(SLC7A5):c.345C>A (p.Gly115=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GBenign
Select item 3034437	NM_003486.7(SLC7A5):c.122G>A (p.Gly41Asp)	SLC7A5 (G41D)	Single nucleotide variant (missense variant)	SLC7A5-related disorder	GLikely benign
Select item 3044393	NM_003486.7(SLC7A5):c.17C>T (p.Pro6Leu)	SLC7A5 (P6L)	Single nucleotide variant (missense variant)	SLC7A5-related disorder	GBenign
Select item 3047210	NM_003486.7(SLC7A5):c.-1C>T	SLC7A5	Single nucleotide variant (5 prime UTR variant)	SLC7A5-related disorder	GLikely benign