"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 853163	NM_020949.3(SLC7A14):c.2290G>T (p.Asp764Tyr)	SLC7A14 (D764Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970006	NM_020949.3(SLC7A14):c.2092G>A (p.Val698Met)	SLC7A14 (V698M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1495456	NM_020949.3(SLC7A14):c.2047G>A (p.Ala683Thr)	SLC7A14-AS1, SLC7A14 (A683T)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 864243	NM_020949.3(SLC7A14):c.1976C>T (p.Ala659Val)	SLC7A14, SLC7A14-AS1 (A659V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938371	NM_020949.3(SLC7A14):c.1796T>C (p.Leu599Pro)	SLC7A14-AS1, SLC7A14 (L599P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006026	NM_020949.3(SLC7A14):c.1727T>A (p.Met576Lys)	SLC7A14, SLC7A14-AS1 (M576K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962691	NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met)	SLC7A14, SLC7A14-AS1 (V569M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 1502266	NM_020949.3(SLC7A14):c.1547T>G (p.Met516Arg)	SLC7A14, SLC7A14-AS1 (M516R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587502	NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe)	SLC7A14, SLC7A14-AS1 (L416F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 68 +1 more	GUncertain significance
Select item 847045	NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)	SLC7A14, SLC7A14-AS1 (V390L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3248802	NM_020949.3(SLC7A14):c.875C>G (p.Ser292Cys)	SLC7A14, SLC7A14-AS1 (S292C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1406262	NM_020949.3(SLC7A14):c.848C>T (p.Thr283Met)	SLC7A14, SLC7A14-AS1 (T283M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1037571	NM_020949.3(SLC7A14):c.520G>A (p.Val174Met)	SLC7A14, SLC7A14-AS1 (V174M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1406838	NM_020949.3(SLC7A14):c.68A>G (p.His23Arg)	SLC7A14, SLC7A14-AS1 (H23R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance