ClinVar for MedGen (Select 816710) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168144	NM_020949.3(SLC7A14):c.1116-12C>T	SLC7A14, SLC7A14-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 68 +1 more	GBenign
Select item 1164900	NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign
Select item 1079911	NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 68 +1 more	GLikely benign
Select item 847045	NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)	SLC7A14, SLC7A14-AS1 (V390L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 782244	NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg)	SLC7A14 (G722R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 68 +1 more	GBenign/Likely benign
Select item 587502	NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe)	SLC7A14, SLC7A14-AS1 (L416F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 126449	NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val)	SLC7A14, SLC7A14-AS1 (A132V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 68	GPathogenic
Select item 126448	NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)	SLC7A14, SLC7A14-AS1 (C464F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 126447	NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val)	SLC7A14 (F708V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 68	GPathogenic
Select item 126446	NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)	SLC7A14, SLC7A14-AS1 (G330R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 68 +2 more	GBenign/Likely benign