"Dept Of Ophthalmology, Nagoya University"[submitter] AND "SLC7A14"[ge - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 943557	NM_020949.3(SLC7A14):c.2282T>C (p.Ile761Thr)	SLC7A14 (I761T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1948805	NM_020949.3(SLC7A14):c.2225G>A (p.Arg742Gln)	SLC7A14 (R742Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3027589	NM_020949.3(SLC7A14):c.2113G>A (p.Glu705Lys)	SLC7A14 (E705K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 721253	NM_020949.3(SLC7A14):c.2083C>T (p.Arg695Cys)	SLC7A14, SLC7A14-AS1 (R695C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1146645	NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1495456	NM_020949.3(SLC7A14):c.2047G>A (p.Ala683Thr)	SLC7A14, SLC7A14-AS1 (A683T)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 3027590	NM_020949.3(SLC7A14):c.2040A>C (p.Glu680Asp)	SLC7A14, SLC7A14-AS1 (E680D)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027593	NM_020949.3(SLC7A14):c.1923G>C (p.Leu641=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027591	NM_020949.3(SLC7A14):c.1923G>T (p.Leu641=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 725672	NM_020949.3(SLC7A14):c.1890T>G (p.Pro630=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3027594	NM_020949.3(SLC7A14):c.1778A>G (p.Gln593Arg)	SLC7A14, SLC7A14-AS1 (Q593R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 962691	NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met)	SLC7A14-AS1, SLC7A14 (V569M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 730084	NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3027595	NM_020949.3(SLC7A14):c.1682C>T (p.Thr561Met)	SLC7A14, SLC7A14-AS1 (T561M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 959012	NM_020949.3(SLC7A14):c.1667G>A (p.Arg556Gln)	SLC7A14, SLC7A14-AS1 (R556Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3027596	NM_020949.3(SLC7A14):c.1574C>A (p.Ser525Tyr)	SLC7A14, SLC7A14-AS1 (S525Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1130388	NM_020949.3(SLC7A14):c.1491G>A (p.Gly497=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 126448	NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)	SLC7A14, SLC7A14-AS1 (C464F)	Single nucleotide variant (missense variant)	SLC7A14-related disorder +2 more	GBenign/Likely benign
Select item 1036285	NM_020949.3(SLC7A14):c.1244C>T (p.Thr415Met)	SLC7A14, SLC7A14-AS1 (T415M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
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 781843	NM_020949.3(SLC7A14):c.1129G>A (p.Val377Ile)	SLC7A14, SLC7A14-AS1 (V377I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 1122122	NM_020949.3(SLC7A14):c.1074G>A (p.Pro358=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 126446	NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)	SLC7A14, SLC7A14-AS1 (G330R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1046264	NM_020949.3(SLC7A14):c.953C>T (p.Thr318Met)	SLC7A14, SLC7A14-AS1 (T318M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 717324	NM_020949.3(SLC7A14):c.795C>T (p.Phe265=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign
Select item 842186	NM_020949.3(SLC7A14):c.725C>T (p.Ala242Val)	SLC7A14, SLC7A14-AS1 (A242V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1085893	NM_020949.3(SLC7A14):c.636C>T (p.Gly212=)	SLC7A14-AS1, SLC7A14	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 3027598	NM_020949.3(SLC7A14):c.594C>T (p.Ile198=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 848208	NM_020949.3(SLC7A14):c.586G>A (p.Ala196Thr)	SLC7A14, SLC7A14-AS1 (A196T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1133261	NM_020949.3(SLC7A14):c.582G>A (p.Leu194=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1037571	NM_020949.3(SLC7A14):c.520G>A (p.Val174Met)	SLC7A14, SLC7A14-AS1 (V174M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 3027599	NM_020949.3(SLC7A14):c.404T>C (p.Ile135Thr)	SLC7A14, SLC7A14-AS1 (I135T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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Items: 32