ClinVar for Gene (Select 57709) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 3027589	NM_020949.3(SLC7A14):c.2113G>A (p.Glu705Lys)	SLC7A14 (E705K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3015104	NM_020949.3(SLC7A14):c.1575C>T (p.Ser525=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008463	NM_020949.3(SLC7A14):c.1606C>G (p.Leu536Val)	SLC7A14, SLC7A14-AS1 (L536V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008444	NM_020949.3(SLC7A14):c.129G>A (p.Thr43=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007692	NM_020949.3(SLC7A14):c.1281G>C (p.Leu427Phe)	SLC7A14, SLC7A14-AS1 (L427F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002315	NM_020949.3(SLC7A14):c.1288C>T (p.Arg430Ter)	SLC7A14, SLC7A14-AS1 (R430*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3001271	NM_020949.3(SLC7A14):c.567C>T (p.Asp189=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999276	NM_020949.3(SLC7A14):c.32G>A (p.Arg11Gln)	SLC7A14, SLC7A14-AS1 (R11Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997410	NM_020949.3(SLC7A14):c.1566T>C (p.Ala522=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994462	NM_020949.3(SLC7A14):c.2169C>T (p.Pro723=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992273	NM_020949.3(SLC7A14):c.1030G>T (p.Ala344Ser)	SLC7A14, SLC7A14-AS1 (A344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990818	NM_020949.3(SLC7A14):c.306C>T (p.Gly102=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987953	NM_020949.3(SLC7A14):c.13T>G (p.Phe5Val)	SLC7A14, SLC7A14-AS1 (F5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987386	NM_020949.3(SLC7A14):c.109G>A (p.Glu37Lys)	SLC7A14, SLC7A14-AS1 (E37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986444	NM_020949.3(SLC7A14):c.2255A>C (p.Lys752Thr)	SLC7A14 (K752T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976444	NM_020949.3(SLC7A14):c.2217A>G (p.Ala739=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975464	NM_020949.3(SLC7A14):c.951C>T (p.Asp317=)	SLC7A14-AS1, SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969746	NM_020949.3(SLC7A14):c.1863C>T (p.Asn621=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966134	NM_020949.3(SLC7A14):c.502C>T (p.Arg168Cys)	SLC7A14, SLC7A14-AS1 (R168C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964590	NM_020949.3(SLC7A14):c.1428A>G (p.Pro476=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962556	NM_020949.3(SLC7A14):c.1707G>C (p.Val569=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959383	NM_020949.3(SLC7A14):c.1116-12_1116-11delinsTA	SLC7A14, SLC7A14-AS1	Indel (intron variant)	not provided	GUncertain significance
Select item 2882578	NM_020949.3(SLC7A14):c.2131G>C (p.Ala711Pro)	SLC7A14 (A711P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881852	NM_020949.3(SLC7A14):c.729G>A (p.Glu243=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879303	NM_020949.3(SLC7A14):c.826G>A (p.Glu276Lys)	SLC7A14, SLC7A14-AS1 (E276K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876319	NM_020949.3(SLC7A14):c.2232T>C (p.Ser744=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876118	NM_020949.3(SLC7A14):c.1027G>C (p.Val343Leu)	SLC7A14, SLC7A14-AS1 (V343L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868146	NM_020949.3(SLC7A14):c.1374C>T (p.Asp458=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856188	NM_020949.3(SLC7A14):c.1253C>A (p.Ala418Asp)	SLC7A14, SLC7A14-AS1 (A418D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854062	NM_020949.3(SLC7A14):c.517A>T (p.Ser173Cys)	SLC7A14, SLC7A14-AS1 (S173C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833356	NM_020949.3(SLC7A14):c.2071_2072delinsGA (p.Ser691Asp)	SLC7A14, SLC7A14-AS1 (S691D)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2817175	NM_020949.3(SLC7A14):c.542-9C>T	SLC7A14, SLC7A14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817121	NM_020949.3(SLC7A14):c.1327T>A (p.Phe443Ile)	SLC7A14, SLC7A14-AS1 (F443I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811640	NM_020949.3(SLC7A14):c.1723C>A (p.Leu575Ile)	SLC7A14, SLC7A14-AS1 (L575I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811279	NM_020949.3(SLC7A14):c.1409G>A (p.Gly470Glu)	SLC7A14, SLC7A14-AS1 (G470E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806810	NM_020949.3(SLC7A14):c.820A>G (p.Thr274Ala)	SLC7A14, SLC7A14-AS1 (T274A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805633	NM_020949.3(SLC7A14):c.1775A>G (p.Glu592Gly)	SLC7A14, SLC7A14-AS1 (E592G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800953	NM_020949.3(SLC7A14):c.1437C>T (p.Asn479=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798319	NM_020949.3(SLC7A14):c.2280G>A (p.Leu760=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796843	NM_020949.3(SLC7A14):c.787T>C (p.Tyr263His)	SLC7A14, SLC7A14-AS1 (Y263H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793549	NM_020949.3(SLC7A14):c.329T>C (p.Val110Ala)	SLC7A14, SLC7A14-AS1 (V110A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786569	NM_020949.3(SLC7A14):c.2214G>A (p.Lys738=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778385	NM_020949.3(SLC7A14):c.2075C>T (p.Thr692Met)	SLC7A14, SLC7A14-AS1 (T692M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2777836	NM_020949.3(SLC7A14):c.1683G>T (p.Thr561=)	SLC7A14-AS1, SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771356	NM_020949.3(SLC7A14):c.407G>A (p.Gly136Asp)	SLC7A14, SLC7A14-AS1 (G136D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749747	NM_020949.3(SLC7A14):c.2068C>G (p.Gln690Glu)	SLC7A14, SLC7A14-AS1 (Q690E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2740610	NM_020949.3(SLC7A14):c.907-12_907-11del	SLC7A14, SLC7A14-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2739992	NM_020949.3(SLC7A14):c.1631T>A (p.Met544Lys)	SLC7A14, SLC7A14-AS1 (M544K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738674	NM_020949.3(SLC7A14):c.278T>C (p.Ile93Thr)	SLC7A14, SLC7A14-AS1 (I93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737546	NM_020949.3(SLC7A14):c.1988T>C (p.Phe663Ser)	SLC7A14, SLC7A14-AS1 (F663S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726483	NM_020949.3(SLC7A14):c.1960A>C (p.Thr654Pro)	SLC7A14, SLC7A14-AS1 (T654P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720052	NM_020949.3(SLC7A14):c.931G>C (p.Val311Leu)	SLC7A14, SLC7A14-AS1 (V311L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710472	NM_020949.3(SLC7A14):c.111G>A (p.Glu37=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709390	NM_020949.3(SLC7A14):c.879G>C (p.Leu293=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705524	NM_020949.3(SLC7A14):c.1482del (p.Met494fs)	SLC7A14, SLC7A14-AS1 (M494fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2699956	NM_020949.3(SLC7A14):c.443C>T (p.Ala148Val)	SLC7A14, SLC7A14-AS1 (A148V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697386	NM_020949.3(SLC7A14):c.1630A>G (p.Met544Val)	SLC7A14, SLC7A14-AS1 (M544V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2621621	NM_020949.3(SLC7A14):c.1739G>T (p.Cys580Phe)	SLC7A14, SLC7A14-AS1 (C580F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619416	NM_020949.3(SLC7A14):c.516C>G (p.Asp172Glu)	SLC7A14, SLC7A14-AS1 (D172E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559039	NM_020949.3(SLC7A14):c.1355A>T (p.Lys452Met)	SLC7A14, SLC7A14-AS1 (K452M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538814	NM_020949.3(SLC7A14):c.92C>T (p.Pro31Leu)	SLC7A14, SLC7A14-AS1 (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537936	NM_020949.3(SLC7A14):c.1258A>C (p.Thr420Pro)	SLC7A14, SLC7A14-AS1 (T420P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2463003	NM_020949.3(SLC7A14):c.295A>G (p.Ile99Val)	SLC7A14-AS1, SLC7A14 (I99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426636	NC_000003.11:g.(?_170184843)_(170244725_?)dup	SLC7A14	Duplication	not provided	GUncertain significance
Select item 2426635	NC_000003.11:g.(?_170244402)_(170244725_?)dup	SLC7A14	Duplication	not provided	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2414144	NM_020949.3(SLC7A14):c.1640G>A (p.Arg547Gln)	SLC7A14, SLC7A14-AS1 (R547Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2399782	NM_020949.3(SLC7A14):c.284C>T (p.Ala95Val)	SLC7A14-AS1, SLC7A14 (A95V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329171	NM_020949.3(SLC7A14):c.794T>C (p.Phe265Ser)	SLC7A14, SLC7A14-AS1 (F265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328912	NM_020949.3(SLC7A14):c.1199T>C (p.Leu400Pro)	SLC7A14, SLC7A14-AS1 (L400P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2301142	NM_020949.3(SLC7A14):c.1146G>T (p.Glu382Asp)	SLC7A14, SLC7A14-AS1 (E382D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283615	NM_020949.3(SLC7A14):c.1966A>T (p.Ile656Phe)	SLC7A14, SLC7A14-AS1 (I656F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269517	NM_020949.3(SLC7A14):c.1913T>C (p.Phe638Ser)	SLC7A14-AS1, SLC7A14 (F638S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259642	NM_020949.3(SLC7A14):c.1969C>T (p.Arg657Trp)	SLC7A14, SLC7A14-AS1 (R657W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184638	NM_020949.3(SLC7A14):c.497T>C (p.Ile166Thr)	SLC7A14, SLC7A14-AS1 (I166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176968	NM_020949.3(SLC7A14):c.158T>C (p.Leu53Pro)	SLC7A14, SLC7A14-AS1 (L53P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166994	NM_020949.3(SLC7A14):c.1009G>A (p.Val337Ile)	SLC7A14, SLC7A14-AS1 (V337I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166895	NM_020949.3(SLC7A14):c.1994-9G>C	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2134456	NM_020949.3(SLC7A14):c.1810del (p.Met604fs)	SLC7A14, SLC7A14-AS1 (M604fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2133179	NM_020949.3(SLC7A14):c.1458A>T (p.Leu486Phe)	SLC7A14, SLC7A14-AS1 (L486F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133050	NM_020949.3(SLC7A14):c.872C>A (p.Ala291Asp)	SLC7A14, SLC7A14-AS1 (A291D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131019	NM_020949.3(SLC7A14):c.2071A>G (p.Ser691Gly)	SLC7A14, SLC7A14-AS1 (S691G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2130886	NM_020949.3(SLC7A14):c.378T>C (p.Thr126=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128957	NM_020949.3(SLC7A14):c.627T>G (p.Asn209Lys)	SLC7A14, SLC7A14-AS1 (N209K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124364	NM_020949.3(SLC7A14):c.589G>A (p.Val197Ile)	SLC7A14, SLC7A14-AS1 (V197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121840	NM_020949.3(SLC7A14):c.93A>G (p.Pro31=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119978	NM_020949.3(SLC7A14):c.1017C>A (p.Ala339=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116887	NM_020949.3(SLC7A14):c.1671C>A (p.Pro557=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115399	NM_020949.3(SLC7A14):c.1764C>T (p.Asp588=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110828	NM_020949.3(SLC7A14):c.282_284dup (p.Ala95_Val96insAla)	SLC7A14, SLC7A14-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2108811	NM_020949.3(SLC7A14):c.305-7C>T	SLC7A14, SLC7A14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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