57709[geneid] - 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 1009338	NM_020949.3(SLC7A14):c.2316G>C (p.Ter772Tyr)	SLC7A14	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1027117	NM_020949.3(SLC7A14):c.2306C>G (p.Ser769Cys)	SLC7A14 (S769C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963878	NM_020949.3(SLC7A14):c.2297T>C (p.Leu766Ser)	SLC7A14 (L766S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1058371	NM_020949.3(SLC7A14):c.2292T>A (p.Asp764Glu)	SLC7A14 (D764E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 943557	NM_020949.3(SLC7A14):c.2282T>C (p.Ile761Thr)	SLC7A14 (I761T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2798319	NM_020949.3(SLC7A14):c.2280G>A (p.Leu760=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740342	NM_020949.3(SLC7A14):c.2277C>T (p.Ala759=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1351779	NM_020949.3(SLC7A14):c.2261A>G (p.Lys754Arg)	SLC7A14 (K754R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044894	NM_020949.3(SLC7A14):c.2245AGCAAA[1] (p.749SK[1])	SLC7A14	Microsatellite (inframe_deletion)	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 1160840	NM_020949.3(SLC7A14):c.2241G>A (p.Ala747=)	SLC7A14	Single nucleotide variant (synonymous variant)	SLC7A14-related disorder +1 more	GLikely benign
Select item 2876319	NM_020949.3(SLC7A14):c.2232T>C (p.Ser744=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897085	NM_020949.3(SLC7A14):c.2232T>G (p.Ser744Arg)	SLC7A14 (S744R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780032	NM_020949.3(SLC7A14):c.2226G>A (p.Arg742=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1922559	NM_020949.3(SLC7A14):c.2224C>T (p.Arg742Trp)	SLC7A14 (R742W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036096	NM_020949.3(SLC7A14):c.2223C>T (p.Gly741=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423081	NM_020949.3(SLC7A14):c.2221G>A (p.Gly741Ser)	SLC7A14 (G741S)	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 2786569	NM_020949.3(SLC7A14):c.2214G>A (p.Lys738=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103139	NM_020949.3(SLC7A14):c.2211G>A (p.Ala737=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164372	NM_020949.3(SLC7A14):c.2210C>T (p.Ala737Val)	SLC7A14 (A737V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1922477	NM_020949.3(SLC7A14):c.2196A>G (p.Gln732=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392432	NM_020949.3(SLC7A14):c.2188T>C (p.Tyr730His)	SLC7A14 (Y730H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2097664	NM_020949.3(SLC7A14):c.2187C>G (p.Phe729Leu)	SLC7A14 (F729L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970726	NM_020949.3(SLC7A14):c.2186T>G (p.Phe729Cys)	SLC7A14 (F729C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510177	NM_020949.3(SLC7A14):c.2183G>C (p.Gly728Ala)	SLC7A14 (G728A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994462	NM_020949.3(SLC7A14):c.2169C>T (p.Pro723=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1957357	NM_020949.3(SLC7A14):c.2163C>A (p.Gly721=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531771	NM_020949.3(SLC7A14):c.2163C>T (p.Gly721=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1042266	NM_020949.3(SLC7A14):c.2151GGA[1] (p.Glu718del)	SLC7A14 (E718del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1519592	NM_020949.3(SLC7A14):c.2145G>C (p.Glu715Asp)	SLC7A14 (E715D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054378	NM_020949.3(SLC7A14):c.2143G>A (p.Glu715Lys)	SLC7A14 (E715K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1102024	NM_020949.3(SLC7A14):c.2142C>T (p.Gly714=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373629	NM_020949.3(SLC7A14):c.2141G>A (p.Gly714Asp)	SLC7A14 (G714D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411857	NM_020949.3(SLC7A14):c.2140G>A (p.Gly714Ser)	SLC7A14 (G714S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1092519	NM_020949.3(SLC7A14):c.2139G>A (p.Glu713=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615368	NM_020949.3(SLC7A14):c.2136A>C (p.Thr712=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1513411	NM_020949.3(SLC7A14):c.2131G>A (p.Ala711Thr)	SLC7A14 (A711T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499309	NM_020949.3(SLC7A14):c.2131G>T (p.Ala711Ser)	SLC7A14 (A711S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1141969	NM_020949.3(SLC7A14):c.2130C>T (p.Tyr710=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 797436	NM_020949.3(SLC7A14):c.2115G>A (p.Glu705=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 938165	NM_020949.3(SLC7A14):c.2108C>T (p.Ser703Leu)	SLC7A14 (S703L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1500180	NM_020949.3(SLC7A14):c.2107T>C (p.Ser703Pro)	SLC7A14 (S703P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1113972	NM_020949.3(SLC7A14):c.2097T>C (p.Asp699=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384013	NM_020949.3(SLC7A14):c.2093T>G (p.Val698Gly)	SLC7A14 (V698G)	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 1145860	NM_020949.3(SLC7A14):c.2091C>T (p.Asp697=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954497	NM_020949.3(SLC7A14):c.2089G>A (p.Asp697Asn)	SLC7A14 (D697N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1580051	NM_020949.3(SLC7A14):c.2088C>T (p.Tyr696=)	SLC7A14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	Retinal dystrophy +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)	not provided +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 provided +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

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