SLC7A13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 57317	GRCh38/hg38 8q21.2-21.3(chr8:85554861-86369755)x3	ATP6V0D2, LOC105375623 +10 more	Copy number gain	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 155142	GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3	ATP6V0D2, LOC105375623 +10 more	Copy number gain	See cases	GUncertain significance
Select item 145867	GRCh38/hg38 8q21.3(chr8:86187888-86300584)x3	LOC105375623, LOC111365182 +1 more	Copy number gain	See cases	GLikely benign
Select item 1620765	NM_138817.3(SLC7A13):c.1413_*7del (p.Glu470_Ter471insTer)	SLC7A13	Deletion (frameshift variant)	not provided	GBenign
Select item 1603156	NM_138817.3(SLC7A13):c.1408G>A (p.Glu470Lys)	SLC7A13 (E470K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2894927	NM_138817.3(SLC7A13):c.1370A>G (p.Gln457Arg)	SLC7A13 (Q457R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598705	NM_138817.3(SLC7A13):c.1355T>C (p.Met452Thr)	SLC7A13 (M452T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240263	NM_138817.3(SLC7A13):c.1312C>A (p.Pro438Thr)	SLC7A13 (P438T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2892248	NM_138817.3(SLC7A13):c.1298T>G (p.Leu433Ter)	SLC7A13 (L433*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2190476	NM_138817.3(SLC7A13):c.1297T>C (p.Leu433=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165534	NM_138817.3(SLC7A13):c.1228G>A (p.Val410Ile)	SLC7A13 (V410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2911248	NM_138817.3(SLC7A13):c.1215C>T (p.Ile405=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303294	NM_138817.3(SLC7A13):c.1208T>A (p.Ile403Lys)	SLC7A13 (I403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2042814	NM_138817.3(SLC7A13):c.1205del (p.Thr402fs)	SLC7A13 (T402fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2055187	NM_138817.3(SLC7A13):c.1189T>C (p.Ser397Pro)	SLC7A13 (S397P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1632967	NM_138817.3(SLC7A13):c.1186T>C (p.Leu396=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545666	NM_138817.3(SLC7A13):c.1176T>C (p.Tyr392=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1624477	NM_138817.3(SLC7A13):c.1172C>A (p.Pro391His)	SLC7A13 (P391H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1667142	NM_138817.3(SLC7A13):c.1162C>T (p.Leu388=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550737	NM_138817.3(SLC7A13):c.1159A>T (p.Asn387Tyr)	SLC7A13 (N387Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1478089	NM_138817.3(SLC7A13):c.1155A>T (p.Glu385Asp)	SLC7A13 (E385D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2163371	NM_138817.3(SLC7A13):c.1146A>C (p.Arg382Ser)	SLC7A13 (R382S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2892788	NM_138817.3(SLC7A13):c.1142G>A (p.Arg381Gln)	SLC7A13 (R381Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600690	NM_138817.3(SLC7A13):c.1139G>A (p.Arg380Lys)	SLC7A13 (R380K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1603167	NM_138817.3(SLC7A13):c.1098G>A (p.Thr366=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165533	NM_138817.3(SLC7A13):c.1097C>T (p.Thr366Met)	SLC7A13 (T366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2078045	NM_138817.3(SLC7A13):c.1082A>G (p.Asn361Ser)	SLC7A13 (N361S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1983967	NM_138817.3(SLC7A13):c.1076T>G (p.Leu359Trp)	SLC7A13 (L359W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295750	NM_138817.3(SLC7A13):c.1064G>C (p.Ser355Thr)	SLC7A13 (S355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165540	NM_138817.3(SLC7A13):c.988C>A (p.Leu330Ile)	SLC7A13 (L330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1557463	NM_138817.3(SLC7A13):c.988C>T (p.Leu330Phe)	SLC7A13 (L330F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3320192	NM_138817.3(SLC7A13):c.985A>G (p.Thr329Ala)	SLC7A13 (T329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2168613	NM_138817.3(SLC7A13):c.932C>T (p.Ser311Leu)	SLC7A13 (S311L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603176	NM_138817.3(SLC7A13):c.930A>C (p.Ser310=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1544700	NM_138817.3(SLC7A13):c.930A>T (p.Ser310=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282600	NM_138817.3(SLC7A13):c.905A>G (p.Asn302Ser)	SLC7A13 (N302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332574	NM_138817.3(SLC7A13):c.898T>C (p.Phe300Leu)	SLC7A13 (F300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191052	NM_138817.3(SLC7A13):c.895T>C (p.Leu299=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904078	NM_138817.3(SLC7A13):c.893C>T (p.Ser298Leu)	SLC7A13 (S298L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386793	NM_138817.3(SLC7A13):c.874C>A (p.Pro292Thr)	SLC7A13 (P292T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1975415	NM_138817.3(SLC7A13):c.868A>T (p.Ile290Phe)	SLC7A13 (I290F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775603	NM_138817.3(SLC7A13):c.849T>C (p.Ala283=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077033	NM_138817.3(SLC7A13):c.844C>T (p.Arg282Ter)	SLC7A13 (R282*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3165539	NM_138817.3(SLC7A13):c.841G>A (p.Asp281Asn)	SLC7A13 (D281N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483002	NM_138817.3(SLC7A13):c.833C>T (p.Thr278Ile)	SLC7A13 (T278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1996900	NM_138817.3(SLC7A13):c.826G>A (p.Ala276Thr)	SLC7A13 (A276T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908533	NM_138817.3(SLC7A13):c.823G>A (p.Val275Ile)	SLC7A13 (V275I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662527	NM_138817.3(SLC7A13):c.808C>T (p.Leu270Phe)	SLC7A13 (L270F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2213673	NM_138817.3(SLC7A13):c.803A>G (p.Glu268Gly)	SLC7A13 (E268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1375256	NM_138817.3(SLC7A13):c.761T>A (p.Leu254Ter)	SLC7A13 (L254*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1660052	NM_138817.3(SLC7A13):c.745G>A (p.Val249Met)	SLC7A13 (V249M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1644736	NM_138817.3(SLC7A13):c.735G>A (p.Ala245=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1641225	NM_138817.3(SLC7A13):c.707CAA[1] (p.Thr237del)	SLC7A13 (T237del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2276029	NM_138817.3(SLC7A13):c.710C>T (p.Thr237Ile)	SLC7A13 (T237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1925239	NM_138817.3(SLC7A13):c.702C>T (p.Pro234=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833950	NM_138817.3(SLC7A13):c.687G>A (p.Gly229=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978154	NM_138817.3(SLC7A13):c.686-16C>T	SLC7A13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575564	NM_138817.3(SLC7A13):c.685+7A>G	SLC7A13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2245148	NM_138817.3(SLC7A13):c.680T>C (p.Ile227Thr)	SLC7A13 (I227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343093	NM_138817.3(SLC7A13):c.674C>T (p.Thr225Ile)	SLC7A13 (T225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601310	NM_138817.3(SLC7A13):c.660C>T (p.Gly220=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3320191	NM_138817.3(SLC7A13):c.643T>C (p.Tyr215His)	SLC7A13 (Y215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2806532	NM_138817.3(SLC7A13):c.637C>T (p.Gln213Ter)	SLC7A13 (Q213*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2404868	NM_138817.3(SLC7A13):c.619C>A (p.Leu207Ile)	SLC7A13 (L207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165537	NM_138817.3(SLC7A13):c.616C>T (p.His206Tyr)	SLC7A13 (H206Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320193	NM_138817.3(SLC7A13):c.587C>G (p.Ala196Gly)	SLC7A13 (A196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233620	NM_138817.3(SLC7A13):c.572A>T (p.Glu191Val)	SLC7A13 (E191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2804418	NM_138817.3(SLC7A13):c.561G>A (p.Lys187=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014023	NM_138817.3(SLC7A13):c.551G>C (p.Arg184Thr)	SLC7A13 (R184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2373414	NM_138817.3(SLC7A13):c.548T>G (p.Ile183Arg)	SLC7A13 (I183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2073831	NM_138817.3(SLC7A13):c.542T>A (p.Phe181Tyr)	SLC7A13 (F181Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1501144	NM_138817.3(SLC7A13):c.520A>T (p.Ile174Phe)	SLC7A13 (I174F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430908	NM_138817.3(SLC7A13):c.479A>G (p.Gln160Arg)	SLC7A13 (Q160R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2598183	NM_138817.3(SLC7A13):c.457G>C (p.Val153Leu)	SLC7A13 (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2730463	NM_138817.3(SLC7A13):c.452G>A (p.Arg151His)	SLC7A13 (R151H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077854	NM_138817.3(SLC7A13):c.452G>T (p.Arg151Leu)	SLC7A13 (R151L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1346967	NM_138817.3(SLC7A13):c.451C>A (p.Arg151Ser)	SLC7A13 (R151S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2890498	NM_138817.3(SLC7A13):c.434T>C (p.Val145Ala)	SLC7A13 (V145A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320852	NM_138817.3(SLC7A13):c.419C>T (p.Ala140Val)	SLC7A13 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1997341	NM_138817.3(SLC7A13):c.372del (p.Ser126fs)	SLC7A13 (S126fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1657951	NM_138817.3(SLC7A13):c.367T>C (p.Phe123Leu)	SLC7A13 (F123L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2059426	NM_138817.3(SLC7A13):c.345T>C (p.Leu115=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357841	NM_138817.3(SLC7A13):c.344T>G (p.Leu115Arg)	SLC7A13 (L115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1664908	NM_138817.3(SLC7A13):c.312G>C (p.Gly104=)	SLC7A13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526941	NM_138817.3(SLC7A13):c.311G>C (p.Gly104Ala)	SLC7A13 (G104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165536	NM_138817.3(SLC7A13):c.292T>C (p.Trp98Arg)	SLC7A13 (W98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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