SLC7A14-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 1018238	NM_020949.3(SLC7A14):c.2083C>A (p.Arg695Ser)	SLC7A14-AS1, SLC7A14 (R695S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1358505	NM_020949.3(SLC7A14):c.2078A>T (p.Tyr693Phe)	SLC7A14, SLC7A14-AS1 (Y693F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1146645	NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +1 more	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 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 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 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 1918947	NM_020949.3(SLC7A14):c.2058G>A (p.Glu686=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1913664	NM_020949.3(SLC7A14):c.2051G>A (p.Arg684Gln)	SLC7A14, SLC7A14-AS1 (R684Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1938664	NM_020949.3(SLC7A14):c.2050C>T (p.Arg684Ter)	SLC7A14, SLC7A14-AS1 (R684*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1978058	NM_020949.3(SLC7A14):c.2046C>T (p.Ser682=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1432501	NM_020949.3(SLC7A14):c.2020A>C (p.Ile674Leu)	SLC7A14, SLC7A14-AS1 (I674L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2029070	NM_020949.3(SLC7A14):c.2016T>C (p.Tyr672=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1524756	NM_020949.3(SLC7A14):c.2011G>C (p.Gly671Arg)	SLC7A14, SLC7A14-AS1 (G671R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1390122	NM_020949.3(SLC7A14):c.1996C>A (p.Leu666Met)	SLC7A14, SLC7A14-AS1 (L666M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 852915	NM_020949.3(SLC7A14):c.1994-3C>T	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 1169360	NM_020949.3(SLC7A14):c.1994-9G>A	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1973897	NM_020949.3(SLC7A14):c.1994-10C>T	SLC7A14, SLC7A14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1933918	NM_020949.3(SLC7A14):c.1994-12del	SLC7A14, SLC7A14-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1944526	NM_020949.3(SLC7A14):c.1993+15T>C	SLC7A14, SLC7A14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1522784	NM_020949.3(SLC7A14):c.1977G>A (p.Ala659=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 964848	NM_020949.3(SLC7A14):c.1970G>A (p.Arg657Gln)	SLC7A14, SLC7A14-AS1 (R657Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259642	NM_020949.3(SLC7A14):c.1969C>T (p.Arg657Trp)	SLC7A14, SLC7A14-AS1 (R657W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1657135	NM_020949.3(SLC7A14):c.1968C>T (p.Ile656=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283615	NM_020949.3(SLC7A14):c.1966A>T (p.Ile656Phe)	SLC7A14, SLC7A14-AS1 (I656F)	Single nucleotide variant (missense variant)	not specified +1 more	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 1947481	NM_020949.3(SLC7A14):c.1946A>G (p.Lys649Arg)	SLC7A14, SLC7A14-AS1 (K649R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716257	NM_020949.3(SLC7A14):c.1941G>C (p.Met647Ile)	SLC7A14, SLC7A14-AS1 (M647I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008601	NM_020949.3(SLC7A14):c.1940T>C (p.Met647Thr)	SLC7A14, SLC7A14-AS1 (M647T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911465	NM_020949.3(SLC7A14):c.1932C>A (p.Ile644=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729313	NM_020949.3(SLC7A14):c.1929C>T (p.Asn643=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	SLC7A14-related disorder +1 more	GBenign
Select item 1964587	NM_020949.3(SLC7A14):c.1924G>T (p.Val642Leu)	SLC7A14, SLC7A14-AS1 (V642L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493096	NM_020949.3(SLC7A14):c.1924G>A (p.Val642Met)	SLC7A14, SLC7A14-AS1 (V642M)	Single nucleotide variant (missense variant)	not provided	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 2269517	NM_020949.3(SLC7A14):c.1913T>C (p.Phe638Ser)	SLC7A14, SLC7A14-AS1 (F638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1133288	NM_020949.3(SLC7A14):c.1896C>T (p.Leu632=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1059275	NM_020949.3(SLC7A14):c.1884G>T (p.Met628Ile)	SLC7A14, SLC7A14-AS1 (M628I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417756	NM_020949.3(SLC7A14):c.1877C>A (p.Pro626His)	SLC7A14, SLC7A14-AS1 (P626H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648806	NM_020949.3(SLC7A14):c.1875G>A (p.Leu625=)	SLC7A14, SLC7A14-AS1	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 2009151	NM_020949.3(SLC7A14):c.1858G>T (p.Glu620Ter)	SLC7A14, SLC7A14-AS1 (E620*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 957230	NM_020949.3(SLC7A14):c.1850A>C (p.Gln617Pro)	SLC7A14, SLC7A14-AS1 (Q617P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1145274	NM_020949.3(SLC7A14):c.1848G>C (p.Leu616=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084249	NM_020949.3(SLC7A14):c.1833G>C (p.Leu611=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082406	NM_020949.3(SLC7A14):c.1830C>G (p.Thr610=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609734	NM_020949.3(SLC7A14):c.1824C>T (p.Ile608=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080479	NM_020949.3(SLC7A14):c.1818G>A (p.Leu606=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478737	NM_020949.3(SLC7A14):c.1813G>T (p.Val605Leu)	SLC7A14, SLC7A14-AS1 (V605L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134456	NM_020949.3(SLC7A14):c.1810del (p.Met604fs)	SLC7A14, SLC7A14-AS1 (M604fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3165542	NM_020949.3(SLC7A14):c.1808T>C (p.Leu603Pro)	SLC7A14, SLC7A14-AS1 (L603P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1923716	NM_020949.3(SLC7A14):c.1803T>C (p.Val601=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047807	NM_020949.3(SLC7A14):c.1796T>G (p.Leu599Arg)	SLC7A14, SLC7A14-AS1 (L599R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938371	NM_020949.3(SLC7A14):c.1796T>C (p.Leu599Pro)	SLC7A14, SLC7A14-AS1 (L599P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1490411	NM_020949.3(SLC7A14):c.1769T>A (p.Ile590Asn)	SLC7A14, SLC7A14-AS1 (I590N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008732	NM_020949.3(SLC7A14):c.1768A>C (p.Ile590Leu)	SLC7A14, SLC7A14-AS1 (I590L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036221	NM_020949.3(SLC7A14):c.1764_1765del (p.Asp588fs)	SLC7A14, SLC7A14-AS1 (D588fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1053260	NM_020949.3(SLC7A14):c.1762G>C (p.Asp588His)	SLC7A14, SLC7A14-AS1 (D588H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578509	NM_020949.3(SLC7A14):c.1758T>A (p.Gly586=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 855144	NM_020949.3(SLC7A14):c.1757G>A (p.Gly586Asp)	SLC7A14, SLC7A14-AS1 (G586D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621621	NM_020949.3(SLC7A14):c.1739G>T (p.Cys580Phe)	SLC7A14, SLC7A14-AS1 (C580F)	Single nucleotide variant (missense variant)	not specified	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 967581	NM_020949.3(SLC7A14):c.1726A>T (p.Met576Leu)	SLC7A14, SLC7A14-AS1 (M576L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847766	NM_020949.3(SLC7A14):c.1726A>G (p.Met576Val)	SLC7A14, SLC7A14-AS1 (M576V)	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 1547847	NM_020949.3(SLC7A14):c.1719C>T (p.Phe573=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 850018	NM_020949.3(SLC7A14):c.1714C>A (p.Leu572Ile)	SLC7A14, SLC7A14-AS1 (L572I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1141753	NM_020949.3(SLC7A14):c.1713G>A (p.Leu571=)	SLC7A14-AS1, SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 845844	NM_020949.3(SLC7A14):c.1708C>T (p.Leu570Phe)	SLC7A14, SLC7A14-AS1 (L570F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 962691	NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met)	SLC7A14, SLC7A14-AS1 (V569M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 730084	NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1037302	NM_020949.3(SLC7A14):c.1700T>A (p.Ile567Asn)	SLC7A14, SLC7A14-AS1 (I567N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1156127	NM_020949.3(SLC7A14):c.1698C>A (p.Thr566=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131123	NM_020949.3(SLC7A14):c.1692G>A (p.Thr564=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955505	NM_020949.3(SLC7A14):c.1691C>T (p.Thr564Met)	SLC7A14, SLC7A14-AS1 (T564M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2092781	NM_020949.3(SLC7A14):c.1686G>A (p.Gly562=)	SLC7A14, SLC7A14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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