"GeneDx"[submitter] AND "SLC7A7"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 882078	NM_003982.4(SLC7A7):c.*272C>T	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1344936	NM_003982.4(SLC7A7):c.*145del	SLC7A7	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1344935	NM_003982.4(SLC7A7):c.*134A>G	SLC7A7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 391214	NM_003982.4(SLC7A7):c.*8C>G	SLC7A7	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 139197	NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 1180590	NM_003982.4(SLC7A7):c.1430-55T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1210653	NM_003982.4(SLC7A7):c.1429+52C>A	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512990	NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 56359	NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	SLC7A7 (R468*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 513964	NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 884027	NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn)	SLC7A7 (D439N)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 386716	NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +1 more	GLikely benign
Select item 1214809	NM_003982.4(SLC7A7):c.1246-73A>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194075	NM_003982.4(SLC7A7):c.1245+53C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390907	NM_003982.4(SLC7A7):c.1230A>G (p.Arg410=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1723700	NM_003982.4(SLC7A7):c.1201C>T (p.Leu401Phe)	SLC7A7 (L401F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508314	NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 312816	NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1194117	NM_003982.4(SLC7A7):c.1095+275C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235717	NM_003982.4(SLC7A7):c.1095+211_1095+215del	SLC7A7	Deletion (intron variant)	not provided	GBenign
Select item 671548	NM_003982.4(SLC7A7):c.1095+188_1095+198del	SLC7A7	Deletion (intron variant)	not provided	GBenign
Select item 1225185	NM_003982.4(SLC7A7):c.1095+181_1095+185del	SLC7A7	Deletion (intron variant)	not provided	GBenign
Select item 1326146	NM_003982.4(SLC7A7):c.1095+138C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180591	NM_003982.4(SLC7A7):c.1095+111A>G	SLC7A7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177898	NM_003982.4(SLC7A7):c.1095+38C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426739	NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1190669	NM_003982.4(SLC7A7):c.999-75G>A	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292166	NM_003982.4(SLC7A7):c.998+113T>A	SLC7A7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1206613	NM_003982.4(SLC7A7):c.998+104C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383279	NM_003982.4(SLC7A7):c.966T>C (p.Gly322=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 312819	NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)	SLC7A7 (L318F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1278257	NM_003982.4(SLC7A7):c.895-107T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264074	NM_003982.4(SLC7A7):c.895-114C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292095	NM_003982.4(SLC7A7):c.894+103A>G	SLC7A7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 512312	NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +1 more	GLikely benign
Select item 382466	NM_003982.4(SLC7A7):c.795C>T (p.Ile265=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1191147	NM_003982.4(SLC7A7):c.771-109C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218469	NM_003982.4(SLC7A7):c.771-138A>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186606	NM_003982.4(SLC7A7):c.771-147G>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263831	NM_003982.4(SLC7A7):c.771-260C>T	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684066	NM_003982.4(SLC7A7):c.770+315A>G	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667493	NM_003982.4(SLC7A7):c.770+211dup	SLC7A7	Duplication (intron variant)	not provided	GBenign
Select item 946032	NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn)	SLC7A7 (I252N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312821	NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 56376	NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	SLC7A7 (S238F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 2161424	NM_003982.4(SLC7A7):c.683T>C (p.Ile228Thr)	SLC7A7 (I228T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 390078	NM_003982.4(SLC7A7):c.681C>T (p.Asp227=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +1 more	GLikely benign
Select item 139196	NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 1287001	NM_003982.4(SLC7A7):c.626-158C>A	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 56374	NM_003982.4(SLC7A7):c.625+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	SLC7A7-related disorder +2 more	GPathogenic
Select item 1177844	NM_003982.4(SLC7A7):c.500-32T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 1234078	NM_003982.4(SLC7A7):c.500-67T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233864	NM_003982.4(SLC7A7):c.500-149del	SLC7A7	Deletion (intron variant)	not provided	GBenign
Select item 667492	NM_003982.4(SLC7A7):c.500-279T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260726	NM_003982.4(SLC7A7):c.499+260del	SLC7A7	Deletion (intron variant)	not provided	GBenign
Select item 1242246	NM_003982.4(SLC7A7):c.499+259_499+260del	SLC7A7	Deletion (intron variant)	not provided	GBenign
Select item 1188535	NM_003982.4(SLC7A7):c.499+258_499+260del	SLC7A7	Deletion (intron variant)	not provided	GLikely benign
Select item 1326163	NM_003982.4(SLC7A7):c.499+109TA[22]	SLC7A7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1292096	NM_003982.4(SLC7A7):c.499+109TA[10]	SLC7A7	Microsatellite (intron variant)	not provided	GBenign
Select item 1207105	NM_003982.4(SLC7A7):c.499+109TA[21]	SLC7A7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1205299	NM_003982.4(SLC7A7):c.499+109TA[20]	SLC7A7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1182060	NM_003982.4(SLC7A7):c.499+109TA[11]	SLC7A7	Microsatellite (intron variant)	not provided	GBenign
Select item 1251865	NM_003982.4(SLC7A7):c.499+109TA[7]	SLC7A7	Microsatellite (intron variant)	not provided	GBenign
Select item 139199	NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 3252363	NM_003982.4(SLC7A7):c.496A>G (p.Ile166Val)	SLC7A7 (I166V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452817	NM_003982.4(SLC7A7):c.476G>A (p.Arg159His)	SLC7A7 (R159H)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +2 more	GUncertain significance
Select item 203944	NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)	SLC7A7 (R159C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2122676	NM_003982.4(SLC7A7):c.455dup (p.Ala153fs)	SLC7A7 (A153fs)	Duplication (frameshift variant)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 312824	NM_003982.4(SLC7A7):c.456C>T (p.Phe152=)	SLC7A7	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign
Select item 1313500	NM_003982.4(SLC7A7):c.444_446delinsACT (p.Phe148_Pro149delinsLeuLeu)	SLC7A7	Indel (missense variant)	not provided	GUncertain significance
Select item 682538	NM_003982.4(SLC7A7):c.375C>T (p.Leu125=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512414	NM_003982.4(SLC7A7):c.375C>G (p.Leu125=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 424554	NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg)	SLC7A7 (W121R)	Indel (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 312826	NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 514385	NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 380186	NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	SLC7A7 (A91V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +3 more	GBenign
Select item 459994	NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)	SLC7A7 (V84I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1303290	NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro)	SLC7A7 (L81P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312827	NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1309391	NM_003982.4(SLC7A7):c.227G>T (p.Trp76Leu)	SLC7A7 (W76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139198	NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 203943	NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 312828	NM_003982.4(SLC7A7):c.-18G>A	LOC130055324, SLC7A7	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GLikely benign
Select item 1296500	NM_003982.4(SLC7A7):c.-42-24T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289381	NM_003982.4(SLC7A7):c.-42-50T>A	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294184	NM_003982.4(SLC7A7):c.-42-101T>G	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684063	NM_003982.4(SLC7A7):c.-42-263_-42-260dup	SLC7A7	Duplication (intron variant)	not provided	GBenign
Select item 312832	NM_003982.4(SLC7A7):c.-86T>C	SLC7A7	Single nucleotide variant (5 prime UTR variant)	Lysinuric protein intolerance +1 more	GBenign
Select item 390077	NM_001126105.3(SLC7A7):c.-162C>G	LOC130055325, SLC7A7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1226641	NM_001126105.3(SLC7A7):c.-175+136T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421763	NM_001126105.3(SLC7A7):c.-175+3GA[3]	SLC7A7	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1292098	NM_001126106.4(SLC7A7):c.-174-488A>G	SLC7A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512666	NM_001126106.4(SLC7A7):c.-190A>G	SLC7A7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 312835	NM_001126106.4(SLC7A7):c.-263G>C	SLC7A7	Single nucleotide variant (5 prime UTR variant)	Lysinuric protein intolerance +1 more	GBenign
Select item 312838	NM_001126106.4(SLC7A7):c.-281T>C	SLC7A7	Single nucleotide variant (5 prime UTR variant)	Lysinuric protein intolerance +1 more	GBenign
Select item 1179248	NC_000014.9:g.22819830G>A	SLC7A7	Single nucleotide variant	not provided	GBenign
Select item 1237607	NC_000014.9:g.22819847A>G	SLC7A7	Single nucleotide variant	not provided	GBenign
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 99