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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inborn disorder of amino acid absorption and transport (MONDO:0019216)
Parent Node: inherited amino acid metabolic disorder (MONDO:0004736)
..Starting node ..lysinuric protein intolerance ()
Child Nodes:
Sister Nodes:
..2-methylacetoacetyl CoA thiolase deficiency ()
..adenine phosphoribosyltransferase deficiency ()
..adenylosuccinate lyase deficiency ()
..albinism ()
..arakawa syndrome 2 ()
..Brunner syndrome ()
..cerebral creatine deficiency syndrome ()
..cystinuria (disease) ()
..dicarboxylic aminoaciduria ()
..disorder of phenylalanine metabolism ()
..disorder of tyrosine metabolism ()
..Hartnup disease ()
..inborn disorder of aspartate family metabolism ()
..inborn disorder of branched-chain amino acid metabolism ()
..inborn disorder of gamma-aminobutyric acid metabolism ()
..inborn disorder of histidine metabolism ()
..inborn disorder of methionine cycle and sulfur amino acid metabolism ()
..inborn disorder of ornithine metabolism ()
..inborn disorder of proline metabolism ()
..inborn disorder of serine family metabolism ()
..inborn disorder of tryptophan metabolism ()
..lysinuric protein intolerance ()
..neurological conditions associated with aminoacylase 1 deficiency ()
..systemic primary carnitine deficiency disease () L: 00473;
..urea cycle disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9109

Name:

lysinuric protein intolerance

Definition:

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

Alternative IDs:

222700

ParentIDs:

TreeNumbers:

Synonyms:

dibasic amino aciduria 2; dibasic amino aciduria II; dibasic aminoaciduria 2; Dibasicamino aciduria II; hyperdibasic aminoaciduria; hyperdibasic aminoaciduria type 2; LPI; lysinuric protein intolerance; lysinuric PROTEIN intolerance; LPI

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 222700;
MSeqDR :
Genes: SLC7A7;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0006517	Alveolar proteinosis
4	HP:0003355	Aminoaciduria
5	HP:0001903	Anemia
6	HP:0000973	Cutis laxa
7	HP:0002750	Delayed skeletal maturation
8	HP:0002014	Diarrhea
9	HP:0001508	Failure to thrive
10	HP:0002213	Fine hair
11	HP:0001290	Generalized hypotonia
12	HP:0012156	Hemophagocytosis
13	HP:0002240	Hepatomegaly
14	HP:0001987	Hyperammonemia
15	HP:0000974	Hyperextensible skin
16	HP:0003281	Increased serum ferritin
17	HP:0001882	Leukopenia
18	HP:0004395	Malnutrition
19	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
20	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
21	HP:0002018	Nausea
22	HP:0003218	Oroticaciduria
23	HP:0000939	Osteoporosis
24	HP:0001733	Pancreatitis
25	HP:0003812	Phenotypic variability
26	HP:0000725	Psychotic episodes	HP:0040283
27	HP:0040223	Pulmonary hemorrhage
28	HP:0002757	Recurrent fractures
29	HP:0002093	Respiratory insufficiency
30	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
31	HP:0003202	Skeletal muscle atrophy
32	HP:0008070	Sparse hair
33	HP:0001744	Splenomegaly
34	HP:0003774	Stage 5 chronic kidney disease
35	HP:0001873	Thrombocytopenia
36	HP:0001956	Truncal obesity
37	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000014.8:g.(?_23242819)_(25103366_?)dup	-1	covers 79 genes, none of which curated to show dos	Uncertain significance	-1	RCV003105427\|RCV003105428;	N	MONDO:MONDO:0009506,MedGen:C0398593,OMIM:PS245480, Orphanet:169142\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242819	25103366		-
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	386833807	RCV000049772\|RCV003324723;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN517202	14	23243169	23243169	14:g.23243169G>A	ClinGen:CA263790	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	1290445670	RCV000702454;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243176	23243176	NC_000014.8:g.23243177del	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	386833805	RCV000049770;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243186	23243187	14:g.23243186_23243187insTGAT	ClinGen:CA263788,OMIM:603593.0003	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	1355745932	RCV001065675;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243187	23243188	14:g.23243187_23243188del	-
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	2139383552	RCV001383305;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243302	23243308	23243301	-
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	752263234	RCV001225885;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243563	23243564	14:g.23243563_23243564insGTAA	-
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	386833798	RCV000049763;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243656	23243657	14:g.23243656_23243657insTAGTT	ClinGen:CA263770	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	773357652	RCV001384098;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243692	23243692	23243692	-
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	9056	SLC7A7	Pathogenic/Likely pathogenic	386833794	RCV000049759;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244740	23244743	14:g.23244740_23244743del	ClinGen:CA263756,OMIM:603593.0006	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	2038594225	RCV001924731;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245110	23245110	23245110	-
NM_003982.4(SLC7A7):c.894+1G>T	9056	SLC7A7	Pathogenic/Likely pathogenic	386833827	RCV000049793;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245403	23245403	14:g.23245403C>A	ClinGen:CA263853	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.770+1del	9056	SLC7A7	Pathogenic/Likely pathogenic	2139394672	RCV002007271;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248001	23248001	23248000	-
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	2139394686	RCV001382771;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248006	23248006	23248006	-
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	2038664064	RCV001054857;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248047	23248047	14:g.23248047C>T	-
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	9056	SLC7A7	Pathogenic/Likely pathogenic	386833823	RCV000049789\|RCV002307385;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN517202	14	23248059	23248059	14:g.23248059G>A	ClinGen:CA263840,UniProtKB:Q9UM01#VAR_030597	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.625+1G>T	9056	SLC7A7	Pathogenic/Likely pathogenic	386833822	RCV001892901;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249134	23249134	23249134	-
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	1414333836	RCV001899525;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249221	23249221	23249220	-
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	2038690553	RCV001232143;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249244	23249244	14:g.23249244_23249244del	-
NM_003982.4(SLC7A7):c.455dup (p.Ala153fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	-1	RCV003046985\|RCV003443107;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23282152	23282153	NC_000014.8:g.23282154dup	-
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	9056	SLC7A7	Pathogenic/Likely pathogenic	774080549	RCV001335669\|RCV003405563;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|	14	23282231	23282231	23282230	-
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)	9056	SLC7A7	Pathogenic/Likely pathogenic	2138663895	RCV002000223;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282520	23282520	23282520	-
NC_000014.8:g.(?_23241431)_(23290020_?)del	9056	SLC7A7	Pathogenic	-1	RCV001390220;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23241431	23290020	-1	-
NC_000014.9:g.22772520_22777166del	9056	SLC7A7	Pathogenic	-1	RCV000006593;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23241705	23246351		OMIM:603593.0011
GRCh37/hg19 14q11.2(chr14:23242388-23245542)	9056	SLC7A7	Pathogenic	-1	RCV000767751;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242388	23245542		-
NC_000014.9:g.(?_22773212)_(22776328_?)del	9056	SLC7A7	Pathogenic	-1	RCV001031228;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242421	23245537	-1	-
NC_000014.9:g.(?_22773212)_(22780061_?)del	9056	SLC7A7	Pathogenic	-1	RCV001031773;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242421	23249270	-1	-
NC_000014.8:g.(?_23242421)_(23285111_?)del	9056	SLC7A7	Pathogenic	-1	RCV003105426;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242421	23285111		-
NC_000014.8:g.(?_23242430)_(23245528_23248001)del	9056	SLC7A7	Pathogenic	-1	RCV003226702;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242430	23248001		-
NC_000014.9:g.(?_22773590)_(22776338_?)del	9056	SLC7A7	Pathogenic	-1	RCV000634961;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242799	23245547		-	C0268647 222700 Lysinuric protein intolerance;
NC_000014.9:g.(?_22773590)_(22813418_?)del	9056	SLC7A7	Pathogenic	-1	RCV000796794;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242799	23282627		-
NC_000014.9:g.(?_22773590)_(22780071_?)del	9056	SLC7A7	Pathogenic	-1	RCV001033157;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242799	23249280	-1	-
NC_000014.9:g.(?_22773610)_(22776318_?)del	9056	SLC7A7	Pathogenic	-1	RCV000708211;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242819	23245527		-	C0268647 222700 Lysinuric protein intolerance;
NC_000014.8:g.(?_23242819)_(23282607_?)del	9056	SLC7A7	Pathogenic	-1	RCV001912659;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242819	23282607	-1	-
NM_003982.4(SLC7A7):c.1429+2T>C	9056	SLC7A7	Pathogenic	-1	RCV002815271;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243140	23243140	NC_000014.8:g.23243140A>G	-
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	9056	SLC7A7	Pathogenic	386833808	RCV000049773\|RCV001701733;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23243154	23243154	14:g.23243154G>A	ClinGen:CA263795	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1400del (p.Lys467fs)	9056	SLC7A7	Pathogenic	2139383000	RCV001959016;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243171	23243171	23243170	-
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)	9056	SLC7A7	Pathogenic	386833806	RCV000049771;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243184	23243184	14:g.23243184_23243184del	ClinVar:998011,ClinGen:CA263789	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1281C>A (p.Cys427Ter)	9056	SLC7A7	Pathogenic	-1	RCV002894604;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243290	23243290	NC_000014.8:g.23243290G>T	-
NC_000014.9:g.22774114_22774118del	9056	SLC7A7	Pathogenic	2139383657	RCV001384193;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243320	23243324		-
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)	9056	SLC7A7	Pathogenic	121908678	RCV000006590;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243580	23243580	14:g.23243580G>A	ClinGen:CA253812,OMIM:603593.0008,ClinVar:998011	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1215del (p.Arg404_Trp405insTer)	9056	SLC7A7	Pathogenic	-1	RCV002894057;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243593	23243593	NC_000014.8:g.23243594del	-
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	9056	SLC7A7	Pathogenic	386833800	RCV000049765;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243620	23243623	14:g.23243620_23243623del	ClinGen:CA263775	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)	9056	SLC7A7	Pathogenic	771254387	RCV000680100;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243686	23243686	14:g.23243686G>T	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1098dup (p.Ile367fs)	9056	SLC7A7	Pathogenic	-1	RCV003062615;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243709	23243710	NC_000014.8:g.23243710dup	-
NM_003982.4(SLC7A7):c.1095+2del	9056	SLC7A7	Pathogenic	1555320639	RCV000501922;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244651	23244651	NC_000014.8:g.23244651del	ClinGen:CA645372564	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1028_1031dup (p.Pro345fs)	9056	SLC7A7	Pathogenic	-1	RCV002838209;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244716	23244717	NC_000014.8:g.23244717_23244720dup	-
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg)	9056	SLC7A7	Pathogenic	72552272	RCV000006587;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244747	23244747	14:g.23244747A>C	ClinGen:CA253804,UniProtKB:Q9UM01#VAR_010262,OMIM:603593.0005	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.998+1G>T	9056	SLC7A7	Pathogenic	386833828	RCV000049795;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245041	23245041	14:g.23245041C>A	ClinGen:CA263855	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.949del (p.Ala317fs)	9056	SLC7A7	Pathogenic	2139387978	RCV001867137;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245091	23245091	23245090	-
NM_003982.4(SLC7A7):c.895-2_895delinsCCATT	9056	SLC7A7	Pathogenic	1594944871	RCV000801183;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245145	23245147	14:g.23245145_23245146insATGG	-
NM_003982.4(SLC7A7):c.895-2A>G	9056	SLC7A7	Pathogenic	146582474	RCV000049794;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245147	23245147	14:g.23245147T>C	ClinGen:CA263854	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.895-2A>T	9056	SLC7A7	Pathogenic	146582474	RCV001007644;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245147	23245147	14:g.23245147T>A	OMIM:603593.0001
NM_003982.4(SLC7A7):c.894+1G>C	9056	SLC7A7	Pathogenic	-1	RCV003047488;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245403	23245403	NC_000014.8:g.23245403C>G	-
NM_003982.4(SLC7A7):c.889dup (p.Ala297fs)	9056	SLC7A7	Pathogenic	2139388749	RCV001389484;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245408	23245409	23245408	-
NC_000014.9:g.(?_22778783)_(22780061_?)del	9056	SLC7A7	Pathogenic	-1	RCV001033351;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23247992	23249270	-1	-
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)	9056	SLC7A7	Pathogenic	121908679	RCV000006592\|RCV001723545\|RCV002262560;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23248046	23248046	14:g.23248046C>T	ClinGen:CA253817,OMIM:603593.0010	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer)	9056	SLC7A7	Pathogenic	748127544	RCV001390016;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248071	23248071	23248070	-
NM_003982.4(SLC7A7):c.635_638dup (p.Phe214fs)	9056	SLC7A7	Pathogenic	769721689	RCV001983019;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248133	23248134	23248133	-
NM_003982.4(SLC7A7):c.625+1G>A	9056	SLC7A7	Pathogenic	386833822	RCV000049787\|RCV001547252\|RCV003415815;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900\|	14	23249134	23249134	14:g.23249134C>T	ClinGen:CA263838,OMIM:603593.0009	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.625+1G>C	9056	SLC7A7	Pathogenic	386833822	RCV000049788;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249134	23249134	14:g.23249134C>G	ClinGen:CA263839	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)	9056	SLC7A7	Pathogenic	386833821	RCV000049786;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249138	23249138	14:g.23249138G>A	ClinGen:CA263833	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.608_609del (p.Ile203fs)	9056	SLC7A7	Pathogenic	2139397147	RCV001931407;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249151	23249152	23249150	-
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	9056	SLC7A7	Pathogenic	386833818	RCV000049783;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249214	23249215	14:g.23249214_23249215insA	ClinGen:CA263824	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.501T>A (p.Cys167Ter)	9056	SLC7A7	Pathogenic	-1	RCV002880492;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249259	23249259	NC_000014.8:g.23249259A>T	-
NC_000014.9:g.(?_22812880)_(22813418_?)del	9056	SLC7A7	Pathogenic	-1	RCV001033468;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282089	23282627	-1	-
NC_000014.8:g.(?_23282099)_(23285111_?)del	9056	SLC7A7	Pathogenic	-1	RCV001390221;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282099	23285111	-1	-
NM_003982.4(SLC7A7):c.499+1G>A	9056	SLC7A7	Pathogenic	386833817	RCV000049782;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282108	23282108	14:g.23282108C>T	ClinGen:CA263823	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.484_490dup (p.Ala164fs)	9056	SLC7A7	Pathogenic	2039336515	RCV001218231;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282117	23282118	14:g.23282117_23282118insCAGCAGC	-
NM_003982.4(SLC7A7):c.465T>G (p.Tyr155Ter)	9056	SLC7A7	Pathogenic	1029500488	RCV001982912;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282143	23282143	23282143	-
NM_003982.4(SLC7A7):c.426_434del (p.Tyr142_Gln145delinsTer)	9056	SLC7A7	Pathogenic	2039339219	RCV001380323;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282174	23282182	23282173	-
NM_003982.4(SLC7A7):c.394C>T (p.Gln132Ter)	9056	SLC7A7	Pathogenic	-1	RCV003016125;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282214	23282214	NC_000014.8:g.23282214G>A	-
NM_003982.4(SLC7A7):c.371del (p.Leu124fs)	9056	SLC7A7	Pathogenic	2138662323	RCV002037666;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282237	23282237	23282236	-
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)	9056	SLC7A7	Pathogenic	-1	RCV003474028;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282259	23282262		-
NM_003982.4(SLC7A7):c.293dup (p.Lys99fs)	9056	SLC7A7	Pathogenic	2039344714	RCV001381435;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282314	23282315	23282314	-
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)	9056	SLC7A7	Pathogenic	386833813	RCV000049778;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282353	23282354	NC_000014.8:g.23282354_23282355del	ClinGen:CA263810	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)	9056	SLC7A7	Pathogenic	386833812	RCV000049777;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282390	23282393	14:g.23282390_23282393del	ClinGen:CA263809	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.126_129del (p.Val43fs)	9056	SLC7A7	Pathogenic	2039349935	RCV001885834;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282479	23282482	23282478	-
NM_003982.4(SLC7A7):c.110dup (p.Ser38fs)	9056	SLC7A7	Pathogenic	-1	RCV002614213;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282497	23282498	NC_000014.8:g.23282498dup	-
NM_003982.4(SLC7A7):c.3G>A (p.Met1Ile)	9056	SLC7A7	Pathogenic	-1	RCV002791552;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282605	23282605	NC_000014.8:g.23282605C>T	-
NM_003982.4(SLC7A7):c.1A>C (p.Met1Leu)	9056	SLC7A7	Pathogenic	121908676	RCV000006586;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282607	23282607	14:g.23282607T>G	ClinGen:CA253799,OMIM:603593.0004	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro)	9056	SLC7A7	Likely pathogenic	386833810	RCV000049775;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242890	23242890	14:g.23242890A>G	ClinGen:CA263801,UniProtKB:Q9UM01#VAR_030599	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)	9056	SLC7A7	Likely pathogenic	-1	RCV003474024;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242894	23242894		-
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)	9056	SLC7A7	Likely pathogenic	386833809	RCV000049774;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242895	23242895	14:g.23242895_23242895del	ClinGen:CA263800	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474035;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243187	23243190		-
NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter)	9056	SLC7A7	Likely pathogenic	386833804	RCV000049769;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243200	23243200	14:g.23243200G>T	ClinGen:CA263783	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)	9056	SLC7A7	Likely pathogenic	-1	RCV003474031;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243200	23243200		-
NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003472950;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243205	23243218		-
NM_003982.4(SLC7A7):c.1344del (p.Ile449fs)	9056	SLC7A7	Likely pathogenic	386833803	RCV000049768;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243227	23243227	14:g.23243227_23243227del	ClinGen:CA263782	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs)	9056	SLC7A7	Likely pathogenic	1489021418	RCV003472949;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243263	23243278	23243262	-
NM_003982.4(SLC7A7):c.1262del (p.Pro421fs)	9056	SLC7A7	Likely pathogenic	386833801	RCV000049766;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243309	23243309	14:g.23243309_23243309del	ClinGen:CA263776	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1246-26_1248del	9056	SLC7A7	Likely pathogenic	2038542991	RCV002030983;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243323	23243351	23243322	-
NM_003982.4(SLC7A7):c.1245+2T>C	9056	SLC7A7	Likely pathogenic	-1	RCV002819440;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243561	23243561	NC_000014.8:g.23243561A>G	-
NM_003982.4(SLC7A7):c.1215G>A (p.Trp405Ter)	9056	SLC7A7	Likely pathogenic	-1	RCV003234623;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243593	23243593		-
NM_003982.4(SLC7A7):c.1169G>A (p.Trp390Ter)	9056	SLC7A7	Likely pathogenic	-1	RCV003472947;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243639	23243639		-
NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg)	9056	SLC7A7	Likely pathogenic	386833799	RCV000049764;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243650	23243650	14:g.23243650G>T	ClinGen:CA263771,UniProtKB:Q9UM01#VAR_011000	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr)	9056	SLC7A7	Likely pathogenic	386833797	RCV000049762;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244655	23244655	14:g.23244655T>A	ClinGen:CA263766,UniProtKB:Q9UM01#VAR_039103	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003472953;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244691	23244697		-
NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474030;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244723	23244735		-
NM_003982.4(SLC7A7):c.999-1G>C	9056	SLC7A7	Likely pathogenic	-1	RCV003474036;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244750	23244750		-
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met)	9056	SLC7A7	Likely pathogenic	386833829	RCV000049796;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245042	23245042	14:g.23245042C>A	ClinGen:CA263856,UniProtKB:Q9UM01#VAR_030598	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.944del (p.Leu314_Ser315insTer)	9056	SLC7A7	Likely pathogenic	-1	RCV003474027;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245096	23245096		-
NM_003982.4(SLC7A7):c.928del (p.Trp310fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474026;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245112	23245112		-
NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474034;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245432	23245435		-
NM_003982.4(SLC7A7):c.819_822del (p.Tyr274fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003472952;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245476	23245479		-
NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs)	9056	SLC7A7	Likely pathogenic	386833826	RCV000049792;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245477	23245478	14:g.23245477_23245478insA	ClinGen:CA263852	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro)	9056	SLC7A7	Likely pathogenic	386833825	RCV000049791;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245516	23245516	14:g.23245516A>G	ClinGen:CA263848,UniProtKB:Q9UM01#VAR_039102	C0268647 222700 Lysinuric protein intolerance;
NC_000014.8:g.(?_23247992)_(23249270_?)dup	9056	SLC7A7	Likely pathogenic	-1	RCV002020762;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23247992	23249270	-1	-
NM_003982.4(SLC7A7):c.770+1G>T	9056	SLC7A7	Likely pathogenic	1264298481	RCV001378639;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248001	23248001	23248001	-
NM_003982.4(SLC7A7):c.753G>T (p.Glu251Asp)	9056	SLC7A7	Likely pathogenic	386833824	RCV000049790;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248019	23248019	14:g.23248019C>A	ClinGen:CA263844,UniProtKB:Q9UM01#VAR_039101	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.669del (p.Phe223fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474022;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248103	23248103		-
NM_003982.4(SLC7A7):c.626-2A>T	9056	SLC7A7	Likely pathogenic	-1	RCV003472954;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248148	23248148		-
NM_003982.4(SLC7A7):c.573del (p.Val192fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003472951;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249187	23249187		-
NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile)	9056	SLC7A7	Likely pathogenic	386833819	RCV000049784;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249197	23249197	14:g.23249197G>A	ClinGen:CA263825,UniProtKB:Q9UM01#VAR_030596	C0268647 222700 Lysinuric protein intolerance;
NC_000014.8:g.(23249261_23282108)_(23289021_?)del	9056	SLC7A7	Likely pathogenic	-1	RCV002308584;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249261	23289021	-1	-
NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu)	9056	SLC7A7	Likely pathogenic	386833816	RCV000049781;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282154	23282154	14:g.23282154A>G	ClinGen:CA263819,UniProtKB:Q9UM01#VAR_039098	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474025;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282161	23282162		-
NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)	9056	SLC7A7	Likely pathogenic	386833815	RCV000049780;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282190	23282190	14:g.23282190C>G	ClinGen:CA263815,UniProtKB:Q9UM01#VAR_039097	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474029;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282294	23282298		-
NM_003982.4(SLC7A7):c.177del (p.Lys60fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474033;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282431	23282431		-
NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu)	9056	SLC7A7	Likely pathogenic	386833793	RCV000049758;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282450	23282450	14:g.23282450G>A	ClinGen:CA263752,UniProtKB:Q9UM01#VAR_039094	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)	9056	SLC7A7	Likely pathogenic	386833811	RCV000049776;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282459	23282459	14:g.23282459A>T	ClinGen:CA263805,UniProtKB:Q9UM01#VAR_030595	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.118_127del (p.Leu40fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003474032;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282481	23282490		-
NM_003982.4(SLC7A7):c.118_119insGTTA (p.Leu40fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003472948;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282489	23282490		-
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)	9056	SLC7A7	Likely pathogenic	386833796	RCV000049761;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282500	23282502	14:g.23282500_23282502del	ClinGen:CA263761	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.94A>T (p.Lys32Ter)	9056	SLC7A7	Likely pathogenic	-1	RCV003474023;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282514	23282514		-
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)	9056	SLC7A7	Likely pathogenic	-1	RCV003472955;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282538	23282538		-
NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile)	9056	SLC7A7	Likely pathogenic	386833792	RCV000049757;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282594	23282594	14:g.23282594G>A	ClinGen:CA263748,UniProtKB:Q9UM01#VAR_039092	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)	9056	SLC7A7	Likely pathogenic	-1	RCV003072378;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282607	23282607	NC_000014.8:g.23282607T>C	-
NM_003982.4(SLC7A7):c.323_326dup	9056	SLC7A7	Uncertain significance	886050403	RCV000327480;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242492	23242493	14:g.23242492_23242493insAGAC	ClinGen:CA10634714	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.*272C>T	9056	SLC7A7	Conflicting interpretations of pathogenicity	143575981	RCV001111463\|RCV001593273\|RCV002264186;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23242547	23242547	14:g.23242547G>A	-
NM_003982.4(SLC7A7):c.*246G>C	9056	SLC7A7	Uncertain significance	886050404	RCV000386760;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242573	23242573	14:g.23242573C>G	ClinGen:CA10634719	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.*235G>C	9056	SLC7A7	Uncertain significance	1246659736	RCV001111464;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242584	23242584	14:g.23242584C>G	-
NM_003982.4(SLC7A7):c.*227G>A	9056	SLC7A7	Uncertain significance	754340252	RCV001111465;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242592	23242592	14:g.23242592C>T	-
NM_003982.4(SLC7A7):c.*225G>A	9056	SLC7A7	Uncertain significance	555934632	RCV001111466;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242594	23242594	14:g.23242594C>T	-
NM_003982.4(SLC7A7):c.*205A>C	9056	SLC7A7	Uncertain significance	574414124	RCV001111467;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242614	23242614	14:g.23242614T>G	-
NM_003982.4(SLC7A7):c.*141T>G	9056	SLC7A7	Likely benign	545489205	RCV000292465;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242678	23242678	14:g.23242678A>C	ClinGen:CA7104337	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.*114C>T	9056	SLC7A7	Uncertain significance	2038516120	RCV001113469;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242705	23242705	14:g.23242705G>A	-
NC_000014.9:g.(?_22773590)_(22780071_?)dup	9056	SLC7A7	Uncertain significance	-1	RCV001032399;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242799	23249280	-1	-
NC_000014.8:g.(?_23242799)_(23282627_?)dup	9056	SLC7A7	Uncertain significance	-1	RCV001372179;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242799	23282627	-1	-
NM_003982.4(SLC7A7):c.*16C>T	9056	SLC7A7	Uncertain significance	375108350	RCV000352091;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242803	23242803	14:g.23242803G>A	ClinGen:CA7104354	C0268647 222700 Lysinuric protein intolerance;
NC_000014.8:g.(?_23242819)_(23249280_?)dup	9056	SLC7A7	Uncertain significance	-1	RCV003105429;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242819	23249280		-
NM_003982.4(SLC7A7):c.1535A>G (p.Ter512=)	9056	SLC7A7	Likely benign	777446088	RCV001413780;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242820	23242820	23242820	-
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)	9056	SLC7A7	Benign	1061040	RCV000128147\|RCV000398235\|RCV001824629;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23242828	23242828	14:g.23242828T>C	ClinGen:CA293596	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1524C>G (p.Pro508=)	9056	SLC7A7	Likely benign	2139381941	RCV002183502;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242831	23242831	23242831	-
NM_003982.4(SLC7A7):c.1521T>C (p.Asp507=)	9056	SLC7A7	Likely benign	-1	RCV002726054;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242834	23242834		-
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)	9056	SLC7A7	Uncertain significance	1055499594	RCV002020599;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242835	23242835	23242835	-
NM_003982.4(SLC7A7):c.1507_1517del (p.Pro503fs)	9056	SLC7A7	Uncertain significance	777950149	RCV001035138;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242838	23242848	14:g.23242838_23242848del	-
NM_003982.4(SLC7A7):c.1516C>A (p.Arg506=)	9056	SLC7A7	Likely benign	138506427	RCV001410875;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242839	23242839	23242839	-
NM_003982.4(SLC7A7):c.1516C>T (p.Arg506Trp)	9056	SLC7A7	Uncertain significance	-1	RCV002994608;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242839	23242839	NC_000014.8:g.23242839G>A	-
NM_003982.4(SLC7A7):c.1515A>G (p.Gln505=)	9056	SLC7A7	Likely benign	2139381985	RCV001401700;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242840	23242840	23242840	-
NM_003982.4(SLC7A7):c.1505T>C (p.Met502Thr)	9056	SLC7A7	Uncertain significance	762335275	RCV001883526;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242850	23242850	23242850	-
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)	9056	SLC7A7	Likely benign	1566438384	RCV001279685;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242858	23242858	14:g.23242858T>G	-
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	765682604	RCV000278758;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242861	23242861	14:g.23242861A>G	ClinGen:CA7104367	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1489G>A (p.Glu497Lys)	9056	SLC7A7	Uncertain significance	-1	RCV003078921;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242866	23242866	NC_000014.8:g.23242866C>T	-
NM_003982.4(SLC7A7):c.1481T>C (p.Met494Thr)	9056	SLC7A7	Uncertain significance	1594941942	RCV002029050;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242874	23242874	23242874	-
NM_003982.4(SLC7A7):c.1476A>G (p.Ala492=)	9056	SLC7A7	Likely benign	1188919066	RCV002160762;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242879	23242879	23242879	-
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)	9056	SLC7A7	Uncertain significance	998787372	RCV001918795;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242887	23242887	23242887	-
NM_003982.4(SLC7A7):c.1467A>T (p.Ser489=)	9056	SLC7A7	Likely benign	2139382160	RCV002087543;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242888	23242888	23242888	-
NM_003982.4(SLC7A7):c.1463T>C (p.Met488Thr)	9056	SLC7A7	Uncertain significance	751601259	RCV001894158;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242892	23242892	23242892	-
NM_003982.4(SLC7A7):c.1461T>C (p.Cys487=)	9056	SLC7A7	Likely benign	-1	RCV003016497;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242894	23242894		-
NM_003982.4(SLC7A7):c.1460G>A (p.Cys487Tyr)	9056	SLC7A7	Uncertain significance	755163036	RCV001879399;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242895	23242895	23242895	-
NM_003982.4(SLC7A7):c.1458G>C (p.Leu486=)	9056	SLC7A7	Likely benign	1343227478	RCV001415869;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242897	23242897	23242897	-
NM_003982.4(SLC7A7):c.1457T>C (p.Leu486Pro)	9056	SLC7A7	Uncertain significance	781546826	RCV001896626;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242898	23242898	23242898	-
NM_003982.4(SLC7A7):c.1453G>A (p.Val485Ile)	9056	SLC7A7	Uncertain significance	2139382220	RCV002046198;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242902	23242902	23242902	-
NM_003982.4(SLC7A7):c.1452G>A (p.Gln484=)	9056	SLC7A7	Likely benign	2038526040	RCV001499408;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242903	23242903	23242903	-
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg)	9056	SLC7A7	Uncertain significance	773635994	RCV001324489;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242904	23242904	23242904	-
NM_003982.4(SLC7A7):c.1449C>T (p.Leu483=)	9056	SLC7A7	Likely benign	760963199	RCV002082136;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242906	23242906	23242906	-
NM_003982.4(SLC7A7):c.1443G>T (p.Arg481Ser)	9056	SLC7A7	Uncertain significance	-1	RCV003079414;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242912	23242912	NC_000014.8:g.23242912C>A	-
NM_003982.4(SLC7A7):c.1443G>A (p.Arg481=)	9056	SLC7A7	Likely benign	-1	RCV002578370;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242912	23242912		-
NM_003982.4(SLC7A7):c.1436C>G (p.Ala479Gly)	9056	SLC7A7	Uncertain significance	757095799	RCV001247763;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242919	23242919	14:g.23242919G>C	-
NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=)	9056	SLC7A7	Likely benign	201993411	RCV000926035;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242924	23242924	14:g.23242924C>T	-
NM_003982.4(SLC7A7):c.1430-4G>A	9056	SLC7A7	Uncertain significance	2038527445	RCV001279686;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242929	23242929	14:g.23242929C>T	-
NM_003982.4(SLC7A7):c.1430-8_1430-7del	9056	SLC7A7	Uncertain significance	-1	RCV003080800;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242932	23242933	NC_000014.8:g.23242933GA[1]	-
NM_003982.4(SLC7A7):c.1430-8C>T	9056	SLC7A7	Likely benign	1310878284	RCV002130259;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242933	23242933	23242933	-
NM_003982.4(SLC7A7):c.1430-14dup	9056	SLC7A7	Likely benign	775214548	RCV002167662;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242938	23242939	23242938	-
NM_003982.4(SLC7A7):c.1430-18T>C	9056	SLC7A7	Likely benign	745832658	RCV002205770;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242943	23242943	23242943	-
NM_003982.4(SLC7A7):c.1430-20A>G	9056	SLC7A7	Uncertain significance	2139382380	RCV001985003;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23242945	23242945	23242945	-
NM_003982.4(SLC7A7):c.1430-55T>C	9056	SLC7A7	Benign	11568422	RCV001538037\|RCV001673153;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23242980	23242980	23242980	-
NM_003982.4(SLC7A7):c.1429+18A>C	9056	SLC7A7	Likely benign	2139382797	RCV002178951;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243124	23243124	23243124	-
NM_003982.4(SLC7A7):c.1429+10G>A	9056	SLC7A7	Likely benign	-1	RCV002832814;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243132	23243132	NC_000014.8:g.23243132C>T	-
NM_003982.4(SLC7A7):c.1429+9T>C	9056	SLC7A7	Likely benign	2139382831	RCV001433415;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243133	23243133	23243133	-
NM_003982.4(SLC7A7):c.1429+8G>A	9056	SLC7A7	Likely benign	201766738	RCV000967648;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243134	23243134	14:g.23243134C>T	-
NM_003982.4(SLC7A7):c.1429+8G>C	9056	SLC7A7	Likely benign	201766738	RCV001460565;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243134	23243134	23243134	-
NM_003982.4(SLC7A7):c.1429+7C>T	9056	SLC7A7	Likely benign	552331172	RCV000928404;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243135	23243135	14:g.23243135G>A	-
NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=)	9056	SLC7A7	Likely benign	373156106	RCV000616464\|RCV000973787;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243146	23243146	14:g.23243146G>A	ClinGen:CA7104395	CN169374 not specified;
NM_003982.4(SLC7A7):c.1424T>C (p.Ile475Thr)	9056	SLC7A7	Uncertain significance	-1	RCV003078796;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243147	23243147	NC_000014.8:g.23243147A>G	-
NM_003982.4(SLC7A7):c.1419A>T (p.Arg473=)	9056	SLC7A7	Likely benign	-1	RCV003046367;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243152	23243152		-
NM_003982.4(SLC7A7):c.1414C>T (p.Leu472Phe)	9056	SLC7A7	Uncertain significance	-1	RCV002634059;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243157	23243157	NC_000014.8:g.23243157G>A	-
NM_003982.4(SLC7A7):c.1407G>A (p.Pro469=)	9056	SLC7A7	Likely benign	1182780017	RCV000980171;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243164	23243164	14:g.23243164C>T	-
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)	9056	SLC7A7	Uncertain significance	142739200	RCV001113470;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243165	23243165	14:g.23243165G>A	-
NM_003982.4(SLC7A7):c.1406C>G (p.Pro469Arg)	9056	SLC7A7	Uncertain significance	-1	RCV002756459;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243165	23243165	NC_000014.8:g.23243165G>C	-
NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser)	9056	SLC7A7	Uncertain significance	201550655	RCV000336121\|RCV002522298;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23243166	23243166	14:g.23243166G>A	ClinGen:CA7104401	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln)	9056	SLC7A7	Uncertain significance	746907619	RCV001326870;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243168	23243168	23243168	-
NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met)	9056	SLC7A7	Uncertain significance	199522527	RCV000396542\|RCV002522299;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23243171	23243171	14:g.23243171T>A	ClinGen:CA7104403	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1392A>G (p.Pro464=)	9056	SLC7A7	Likely benign	-1	RCV003076564;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243179	23243179		-
NM_003982.4(SLC7A7):c.1392A>C (p.Pro464=)	9056	SLC7A7	Likely benign	-1	RCV003018700;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243179	23243179		-
NM_003982.4(SLC7A7):c.1388T>A (p.Val463Glu)	9056	SLC7A7	Uncertain significance	-1	RCV003060818;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243183	23243183	NC_000014.8:g.23243183A>T	-
NM_003982.4(SLC7A7):c.1376TCA[4] (p.Ile461dup)	9056	SLC7A7	Uncertain significance	759301639	RCV001224444;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243186	23243187	14:g.23243186_23243187insTGA	-
NM_003982.4(SLC7A7):c.1376TCA[2] (p.Ile461del)	9056	SLC7A7	Uncertain significance	759301639	RCV000695852;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243187	23243189	NC_000014.8:g.23243187TGA[2]	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)	9056	SLC7A7	Likely benign	139415285	RCV000300992\|RCV002262974\|RCV003235187\|RCV001729525;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665\|MedGen:CN169374\|MedGen:C3661900	14	23243191	23243191	14:g.23243191G>C	ClinGen:CA7104407	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1380C>T (p.Ile460=)	9056	SLC7A7	Likely benign	139415285	RCV002168582;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243191	23243191	23243191	-
NM_003982.4(SLC7A7):c.1374C>T (p.Phe458=)	9056	SLC7A7	Likely benign	1594942519	RCV002076568;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243197	23243197	23243197	-
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)	9056	SLC7A7	Likely benign	143853134	RCV000606048\|RCV001405499;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243209	23243209	14:g.23243209C>G	ClinGen:CA257723751	CN169374 not specified;
NM_003982.4(SLC7A7):c.1362G>A (p.Leu454=)	9056	SLC7A7	Likely benign	-1	RCV002867860;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243209	23243209		-
NM_003982.4(SLC7A7):c.1360C>T (p.Leu454=)	9056	SLC7A7	Likely benign	1594942552	RCV001414509;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243211	23243211	14:g.23243211G>A	-
NM_003982.4(SLC7A7):c.1359C>G (p.Gly453=)	9056	SLC7A7	Likely benign	771189806	RCV001482868;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243212	23243212	14:g.23243212G>C	-
NM_003982.4(SLC7A7):c.1356A>G (p.Ser452=)	9056	SLC7A7	Likely benign	1346185145	RCV001502523;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243215	23243215	23243215	-
NM_003982.4(SLC7A7):c.1350C>T (p.Ala450=)	9056	SLC7A7	Likely benign	2139383184	RCV001501977;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243221	23243221	23243221	-
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val)	9056	SLC7A7	Uncertain significance	141632828	RCV001043560;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243222	23243222	14:g.23243222G>A	-
NM_003982.4(SLC7A7):c.1345A>G (p.Ile449Val)	9056	SLC7A7	Uncertain significance	-1	RCV003062912\|RCV003068290;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23243226	23243226	NC_000014.8:g.23243226T>C	-
NM_003982.4(SLC7A7):c.1344C>T (p.Ala448=)	9056	SLC7A7	Likely benign	2139383219	RCV002093814;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243227	23243227	23243227	-
NM_003982.4(SLC7A7):c.1340T>C (p.Ile447Thr)	9056	SLC7A7	Uncertain significance	1459950013	RCV002000966;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243231	23243231	23243231	-
NM_003982.4(SLC7A7):c.1336G>A (p.Gly446Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002923348;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243235	23243235	NC_000014.8:g.23243235C>T	-
NM_003982.4(SLC7A7):c.1335C>T (p.Ile445=)	9056	SLC7A7	Likely benign	760898785	RCV001480928;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243236	23243236	14:g.23243236G>A	-
NM_003982.4(SLC7A7):c.1333A>G (p.Ile445Val)	9056	SLC7A7	Uncertain significance	764231324	RCV001048252;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243238	23243238	14:g.23243238T>C	-
NM_003982.4(SLC7A7):c.1330C>T (p.Leu444Phe)	9056	SLC7A7	Uncertain significance	-1	RCV002606512;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243241	23243241	NC_000014.8:g.23243241G>A	-
NM_003982.4(SLC7A7):c.1329C>T (p.Ser443=)	9056	SLC7A7	Likely benign	1363447141	RCV002111430;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243242	23243242	23243242	-
NM_003982.4(SLC7A7):c.1322T>G (p.Ile441Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002593420;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243249	23243249	NC_000014.8:g.23243249A>C	-
NM_003982.4(SLC7A7):c.1321A>G (p.Ile441Val)	9056	SLC7A7	Uncertain significance	-1	RCV003061194;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243250	23243250	NC_000014.8:g.23243250T>C	-
NM_003982.4(SLC7A7):c.1320T>C (p.Thr440=)	9056	SLC7A7	Likely benign	2139383353	RCV002074899;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243251	23243251	23243251	-
NM_003982.4(SLC7A7):c.1316A>G (p.Asp439Gly)	9056	SLC7A7	Uncertain significance	-1	RCV002626577;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243255	23243255	NC_000014.8:g.23243255T>C	-
NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn)	9056	SLC7A7	Uncertain significance	199986641	RCV001114869\|RCV003442207;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23243256	23243256	14:g.23243256C>T	-
NM_003982.4(SLC7A7):c.1305A>G (p.Pro435=)	9056	SLC7A7	Likely benign	1594942680	RCV002217362;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243266	23243266	23243266	-
NM_003982.4(SLC7A7):c.1290C>T (p.Phe430=)	9056	SLC7A7	Likely benign	368164901	RCV002111319;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243281	23243281	23243281	-
NM_003982.4(SLC7A7):c.1288T>G (p.Phe430Val)	9056	SLC7A7	Uncertain significance	-1	RCV002297584;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243283	23243283	23243283	-
NM_003982.4(SLC7A7):c.1287C>A (p.Ile429=)	9056	SLC7A7	Likely benign	2139383446	RCV001451472;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243284	23243284	23243284	-
NM_003982.4(SLC7A7):c.1282A>C (p.Thr428Pro)	9056	SLC7A7	Uncertain significance	1219626541	RCV001299754;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243289	23243289	23243289	-
NM_003982.4(SLC7A7):c.1282A>G (p.Thr428Ala)	9056	SLC7A7	Uncertain significance	1219626541	RCV001945348;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243289	23243289	23243289	-
NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=)	9056	SLC7A7	Likely benign	763739193	RCV000426837\|RCV001407791;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243290	23243290	14:g.23243290G>A	ClinGen:CA7104428	CN169374 not specified;
NM_003982.4(SLC7A7):c.1275C>T (p.Cys425=)	9056	SLC7A7	Likely benign	2139383501	RCV001463774;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243296	23243296	23243296	-
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)	9056	SLC7A7	Uncertain significance	386833802	RCV000049767;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243298	23243298	14:g.23243298A>G	ClinGen:CA263777	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1271T>C (p.Phe424Ser)	9056	SLC7A7	Uncertain significance	2139383531	RCV002022389;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243300	23243300	23243300	-
NM_003982.4(SLC7A7):c.1269C>T (p.Val423=)	9056	SLC7A7	Likely benign	2038541659	RCV001402128;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243302	23243302	23243302	-
NM_003982.4(SLC7A7):c.1266T>C (p.Ile422=)	9056	SLC7A7	Likely benign	1594942768	RCV001487655;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243305	23243305	14:g.23243305A>G	-
NM_003982.4(SLC7A7):c.1266T>G (p.Ile422Met)	9056	SLC7A7	Uncertain significance	1594942768	RCV001245923;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243305	23243305	14:g.23243305A>C	-
NM_003982.4(SLC7A7):c.1265T>G (p.Ile422Ser)	9056	SLC7A7	Uncertain significance	2139383586	RCV001989228;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243306	23243306	23243306	-
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	1043886041	RCV000975630;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243308	23243308	14:g.23243308C>T	-
NM_003982.4(SLC7A7):c.1263G>C (p.Pro421=)	9056	SLC7A7	Uncertain significance	-1	RCV002834166;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243308	23243308		-
NM_003982.4(SLC7A7):c.1262C>T (p.Pro421Leu)	9056	SLC7A7	Uncertain significance	756903324	RCV000634958;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243309	23243309	NC_000014.8:g.23243309G>A	ClinGen:CA7104432	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1251C>T (p.Ser417=)	9056	SLC7A7	Likely benign	775549397	RCV001486722;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243320	23243320	23243320	-
NM_003982.4(SLC7A7):c.1248C>G (p.Leu416=)	9056	SLC7A7	Likely benign	1266932567	RCV002213660;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243323	23243323	23243323	-
NM_003982.4(SLC7A7):c.1246-6C>T	9056	SLC7A7	Likely benign	1343994057	RCV001399064;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243331	23243331	23243331	-
NM_003982.4(SLC7A7):c.1246-7C>T	9056	SLC7A7	Likely benign	370138050	RCV001444966;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243332	23243332	23243332	-
NM_003982.4(SLC7A7):c.1246-8G>A	9056	SLC7A7	Likely benign	764143566	RCV002111122;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243333	23243333	23243333	-
NM_003982.4(SLC7A7):c.1246-12C>T	9056	SLC7A7	Conflicting interpretations of pathogenicity	573454071	RCV001114870;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243337	23243337	14:g.23243337G>A	-
NM_003982.4(SLC7A7):c.1246-13C>T	9056	SLC7A7	Likely benign	2038543431	RCV002181611;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243338	23243338	23243338	-
NM_003982.4(SLC7A7):c.1246-16T>C	9056	SLC7A7	Likely benign	-1	RCV003058889;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243341	23243341	NC_000014.8:g.23243341A>G	-
NM_003982.4(SLC7A7):c.1246-18T>C	9056	SLC7A7	Likely benign	-1	RCV003074104;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243343	23243343	NC_000014.8:g.23243343A>G	-
NM_003982.4(SLC7A7):c.1246-24_1246-20del	9056	SLC7A7	Benign	755372416	RCV002171334;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243345	23243349	23243344	-
NM_003982.4(SLC7A7):c.1245+10C>T	9056	SLC7A7	Benign/Likely benign	531427504	RCV000979758;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243553	23243553	14:g.23243553G>A	-
NM_003982.4(SLC7A7):c.1245+9A>G	9056	SLC7A7	Likely benign	-1	RCV003047700;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243554	23243554	NC_000014.8:g.23243554T>C	-
NM_003982.4(SLC7A7):c.1245+6G>A	9056	SLC7A7	Uncertain significance	2139384181	RCV001372324;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243557	23243557	23243557	-
NM_003982.4(SLC7A7):c.1243A>G (p.Lys415Glu)	9056	SLC7A7	Uncertain significance	-1	RCV003087900;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243565	23243565	NC_000014.8:g.23243565T>C	-
NM_003982.4(SLC7A7):c.1239C>G (p.Pro413=)	9056	SLC7A7	Likely benign	2139384237	RCV001454457;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243569	23243569	23243569	-
NM_003982.4(SLC7A7):c.1235G>A (p.Arg412His)	9056	SLC7A7	Uncertain significance	-1	RCV002638546\|RCV003162085;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23243573	23243573	NC_000014.8:g.23243573C>T	-
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln)	9056	SLC7A7	Uncertain significance	368317701	RCV001063945;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243579	23243579	14:g.23243579C>T	-
NM_003982.4(SLC7A7):c.1228C>A (p.Arg410=)	9056	SLC7A7	Likely benign	121908678	RCV001475616;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243580	23243580	23243580	-
NM_003982.4(SLC7A7):c.1225G>C (p.Asp409His)	9056	SLC7A7	Uncertain significance	2038550517	RCV001238527;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243583	23243583	14:g.23243583C>G	-
NM_003982.4(SLC7A7):c.1221G>A (p.Glu407=)	9056	SLC7A7	Likely benign	2139384350	RCV002130738;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243587	23243587	23243587	-
NM_003982.4(SLC7A7):c.1215G>T (p.Trp405Cys)	9056	SLC7A7	Uncertain significance	1479668615	RCV001114871;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243593	23243593	14:g.23243593C>A	-
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)	9056	SLC7A7	Uncertain significance	201305817	RCV001245244\|RCV002264249;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23243597	23243597	14:g.23243597C>T	-
NM_003982.4(SLC7A7):c.1210C>T (p.Arg404Cys)	9056	SLC7A7	Uncertain significance	763715975	RCV001940881;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243598	23243598	23243598	-
NM_003982.4(SLC7A7):c.1208T>G (p.Leu403Arg)	9056	SLC7A7	Uncertain significance	-1	RCV003072195;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243600	23243600	NC_000014.8:g.23243600A>C	-
NM_003982.4(SLC7A7):c.1207C>T (p.Leu403=)	9056	SLC7A7	Likely benign	2139384413	RCV002197547;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243601	23243601	23243601	-
NM_003982.4(SLC7A7):c.1203T>G (p.Leu401=)	9056	SLC7A7	Likely benign	2139384424	RCV002155253;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243605	23243605	23243605	-
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val)	9056	SLC7A7	Uncertain significance	756936473	RCV000704067;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243619	23243619	NC_000014.8:g.23243619T>C	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1184T>A (p.Leu395His)	9056	SLC7A7	Uncertain significance	886050405	RCV000358015;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243624	23243624	14:g.23243624A>T	ClinGen:CA10645017	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1184T>C (p.Leu395Pro)	9056	SLC7A7	Uncertain significance	886050405	RCV001881656;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243624	23243624	23243624	-
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys)	9056	SLC7A7	Uncertain significance	370847983	RCV000400578;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243638	23243638	14:g.23243638C>G	ClinGen:CA7104467	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1156A>T (p.Ser386Cys)	9056	SLC7A7	Uncertain significance	2038553443	RCV001900945;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243652	23243652	23243652	-
NM_003982.4(SLC7A7):c.1155C>T (p.Tyr385=)	9056	SLC7A7	Likely benign	2139384560	RCV001411586;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243653	23243653	23243653	-
NM_003982.4(SLC7A7):c.1150T>C (p.Tyr384His)	9056	SLC7A7	Uncertain significance	2038553835	RCV001046710;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243658	23243658	14:g.23243658A>G	-
NM_003982.4(SLC7A7):c.1149C>T (p.Asn383=)	9056	SLC7A7	Likely benign	758810096	RCV001404839;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243659	23243659	23243659	-
NM_003982.4(SLC7A7):c.1140G>A (p.Gln380=)	9056	SLC7A7	Likely benign	-1	RCV003027249;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243668	23243668		-
NM_003982.4(SLC7A7):c.1137C>T (p.Phe379=)	9056	SLC7A7	Likely benign	-1	RCV003112084;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243671	23243671		-
NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys)	9056	SLC7A7	Uncertain significance	1160393188	RCV001109226;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243672	23243672	14:g.23243672A>C	-
NM_003982.4(SLC7A7):c.1134C>T (p.Ile378=)	9056	SLC7A7	Likely benign	1594943327	RCV001404714;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243674	23243674	14:g.23243674G>A	-
NM_003982.4(SLC7A7):c.1134C>A (p.Ile378=)	9056	SLC7A7	Likely benign	-1	RCV002881404;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243674	23243674		-
NM_003982.4(SLC7A7):c.1130A>G (p.Asp377Gly)	9056	SLC7A7	Uncertain significance	-1	RCV003097623;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243678	23243678	NC_000014.8:g.23243678T>C	-
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)	9056	SLC7A7	Conflicting interpretations of pathogenicity	139619724	RCV000304433\|RCV002262975;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23243680	23243680	14:g.23243680T>G	ClinGen:CA7104471	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)	9056	SLC7A7	Likely benign	371346432	RCV001272424;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243683	23243683	14:g.23243683C>G	-
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met)	9056	SLC7A7	Uncertain significance	769093980	RCV000697339\|RCV002533483;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23243685	23243685	14:g.23243685C>T	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=)	9056	SLC7A7	Likely benign	771254387	RCV000611274\|RCV001471041;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243686	23243686	14:g.23243686G>A	ClinGen:CA7104473	CN169374 not specified;
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=)	9056	SLC7A7	Benign/Likely benign	1805062	RCV000361440\|RCV000616460\|RCV003422259;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374\|MedGen:C3661900	14	23243689	23243689	14:g.23243689C>T	ClinGen:CA7104474	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1117T>C (p.Leu373=)	9056	SLC7A7	Likely benign	769906633	RCV001432856;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243691	23243691	14:g.23243691A>G	-
NM_003982.4(SLC7A7):c.1116C>T (p.Tyr372=)	9056	SLC7A7	Likely benign	773357652	RCV001430821;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243692	23243692	23243692	-
NM_003982.4(SLC7A7):c.1113C>A (p.Ile371=)	9056	SLC7A7	Likely benign	-1	RCV002815606;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243695	23243695		-
NM_003982.4(SLC7A7):c.1112T>C (p.Ile371Thr)	9056	SLC7A7	Uncertain significance	1555320506	RCV000634955;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243696	23243696	NC_000014.8:g.23243696A>G	ClinGen:CA388922704	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1110G>A (p.Leu370=)	9056	SLC7A7	Likely benign	1267303478	RCV001466828;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243698	23243698	23243698	-
NM_003982.4(SLC7A7):c.1110G>C (p.Leu370Phe)	9056	SLC7A7	Uncertain significance	1267303478	RCV002045251;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243698	23243698	23243698	-
NM_003982.4(SLC7A7):c.1103T>C (p.Met368Thr)	9056	SLC7A7	Uncertain significance	-1	RCV002909454;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243705	23243705	NC_000014.8:g.23243705A>G	-
NM_003982.4(SLC7A7):c.1098T>C (p.Gly366=)	9056	SLC7A7	Likely benign	-1	RCV003045661;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243710	23243710		-
NM_003982.4(SLC7A7):c.1096G>A (p.Gly366Ser)	9056	SLC7A7	Uncertain significance	2038556827	RCV001339328;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243712	23243712	23243712	-
NM_003982.4(SLC7A7):c.1096-6_1096-5dup	9056	SLC7A7	Likely benign	1416844530	RCV001414963;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243716	23243717	14:g.23243716_23243717insAA	-
NM_003982.4(SLC7A7):c.1096-7C>T	9056	SLC7A7	Likely benign	772027108	RCV001414058;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243719	23243719	23243719	-
NM_003982.4(SLC7A7):c.1096-8G>C	9056	SLC7A7	Likely benign	1378166336	RCV001485001;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243720	23243720	23243720	-
NM_003982.4(SLC7A7):c.1096-8G>A	9056	SLC7A7	Likely benign	1378166336	RCV001489823;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243720	23243720	23243720	-
NM_003982.4(SLC7A7):c.1096-18T>C	9056	SLC7A7	Likely benign	2139384926	RCV002192920;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243730	23243730	23243730	-
NM_003982.4(SLC7A7):c.1096-19C>G	9056	SLC7A7	Likely benign	1325229919	RCV001415170;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23243731	23243731	23243731	-
NM_003982.4(SLC7A7):c.1095+111A>G	9056	SLC7A7	Benign	12891079	RCV001538038\|RCV001685460;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23244542	23244542	23244542	-
NM_003982.4(SLC7A7):c.1095+20del	9056	SLC7A7	Likely benign	-1	RCV002909068;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244633	23244633	NC_000014.8:g.23244633del	-
NM_003982.4(SLC7A7):c.1095+14A>G	9056	SLC7A7	Likely benign	2139386863	RCV002184960;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244639	23244639	23244639	-
NM_003982.4(SLC7A7):c.1095+7G>C	9056	SLC7A7	Likely benign	-1	RCV002647816;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244646	23244646	NC_000014.8:g.23244646C>G	-
NM_003982.4(SLC7A7):c.1095+6T>C	9056	SLC7A7	Conflicting interpretations of pathogenicity	531862402	RCV000268955\|RCV002262976;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23244647	23244647	14:g.23244647A>G	ClinGen:CA7104494	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1095+5G>C	9056	SLC7A7	Uncertain significance	2038581784	RCV001230978;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244648	23244648	14:g.23244648C>G	-
NM_003982.4(SLC7A7):c.1094A>G (p.Asn365Ser)	9056	SLC7A7	Uncertain significance	-1	RCV003056515;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244654	23244654	NC_000014.8:g.23244654T>C	-
NM_003982.4(SLC7A7):c.1083T>C (p.Ser361=)	9056	SLC7A7	Likely benign	768481415	RCV000932796;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244665	23244665	14:g.23244665A>G	-
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)	9056	SLC7A7	Conflicting interpretations of pathogenicity	11568423	RCV000326397\|RCV002262977;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23244684	23244684	14:g.23244684C>T	ClinGen:CA7104499	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1063C>A (p.Arg355=)	9056	SLC7A7	Likely benign	-1	RCV002972279;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244685	23244685		-
NM_003982.4(SLC7A7):c.1063C>T (p.Arg355Trp)	9056	SLC7A7	Uncertain significance	-1	RCV002985587;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244685	23244685	NC_000014.8:g.23244685G>A	-
NM_003982.4(SLC7A7):c.1056T>C (p.His352=)	9056	SLC7A7	Uncertain significance	1490713694	RCV001279687;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244692	23244692	14:g.23244692A>G	-
NM_003982.4(SLC7A7):c.1053C>G (p.Ile351Met)	9056	SLC7A7	Uncertain significance	1384004540	RCV002045308;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244695	23244695	23244695	-
NM_003982.4(SLC7A7):c.1047C>T (p.Cys349=)	9056	SLC7A7	Likely benign	-1	RCV002589191;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244701	23244701		-
NM_003982.4(SLC7A7):c.1041C>T (p.Ala347=)	9056	SLC7A7	Likely benign	2139387078	RCV001392973;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244707	23244707	23244707	-
NM_003982.4(SLC7A7):c.1041C>A (p.Ala347=)	9056	SLC7A7	Likely benign	2139387078	RCV001403542;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244707	23244707	23244707	-
NM_003982.4(SLC7A7):c.1032C>T (p.Leu344=)	9056	SLC7A7	Likely benign	2139387119	RCV002131712;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244716	23244716	23244716	-
NM_003982.4(SLC7A7):c.1030C>G (p.Leu344Val)	9056	SLC7A7	Uncertain significance	-1	RCV002751243;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244718	23244718	NC_000014.8:g.23244718G>C	-
NM_003982.4(SLC7A7):c.1029T>C (p.His343=)	9056	SLC7A7	Likely benign	1177228884	RCV001414101;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244719	23244719	23244719	-
NM_003982.4(SLC7A7):c.1027C>T (p.His343Tyr)	9056	SLC7A7	Uncertain significance	-1	RCV003078589;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244721	23244721	NC_000014.8:g.23244721G>A	-
NM_003982.4(SLC7A7):c.1024G>A (p.Gly342Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002599518;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244724	23244724	NC_000014.8:g.23244724C>T	-
NM_003982.4(SLC7A7):c.1014C>G (p.Gly338=)	9056	SLC7A7	Likely benign	1195982035	RCV002188017;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244734	23244734	23244734	-
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)	9056	SLC7A7	Uncertain significance	386833795	RCV000049760;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244735	23244735	14:g.23244735C>T	ClinGen:CA263757,UniProtKB:Q9UM01#VAR_010999	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.1012G>A (p.Gly338Ser)	9056	SLC7A7	Uncertain significance	755387204	RCV001109227;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244736	23244736	14:g.23244736C>T	-
NM_003982.4(SLC7A7):c.1008T>C (p.Phe336=)	9056	SLC7A7	Likely benign	753178470	RCV001419631;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244740	23244740	23244740	-
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser)	9056	SLC7A7	Uncertain significance	11568424	RCV001239535;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244744	23244744	14:g.23244744A>G	-
NM_003982.4(SLC7A7):c.1003T>G (p.Phe335Val)	9056	SLC7A7	Uncertain significance	2139387225	RCV001913812;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244745	23244745	23244745	-
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	146720775	RCV000489698\|RCV000634956\|RCV002263700;	N	MedGen:CN517202\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23244749	23244749	14:g.23244749C>T	ClinGen:CA7104508	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.999-4A>G	9056	SLC7A7	Likely benign	-1	RCV002770422;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244753	23244753	NC_000014.8:g.23244753T>C	-
NM_003982.4(SLC7A7):c.999-5C>T	9056	SLC7A7	Likely benign	2139387275	RCV001485442;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244754	23244754	23244754	-
NM_003982.4(SLC7A7):c.999-10C>T	9056	SLC7A7	Likely benign	-1	RCV002642454;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244759	23244759	NC_000014.8:g.23244759G>A	-
NM_003982.4(SLC7A7):c.999-16A>G	9056	SLC7A7	Likely benign	1594944509	RCV002148538;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244765	23244765	23244765	-
NM_003982.4(SLC7A7):c.999-19C>G	9056	SLC7A7	Likely benign	-1	RCV003072468;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23244768	23244768	NC_000014.8:g.23244768G>C	-
NM_003982.4(SLC7A7):c.998+19G>C	9056	SLC7A7	Likely benign	-1	RCV002614807;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245023	23245023	NC_000014.8:g.23245023C>G	-
NM_003982.4(SLC7A7):c.998+13A>C	9056	SLC7A7	Likely benign	-1	RCV003081187;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245029	23245029	NC_000014.8:g.23245029T>G	-
NM_003982.4(SLC7A7):c.998+11C>T	9056	SLC7A7	Likely benign	-1	RCV002786341;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245031	23245031	NC_000014.8:g.23245031G>A	-
NM_003982.4(SLC7A7):c.998+9G>C	9056	SLC7A7	Likely benign	1350841635	RCV001272425;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245033	23245033	14:g.23245033C>G	-
NM_003982.4(SLC7A7):c.998+9G>A	9056	SLC7A7	Likely benign	1350841635	RCV002096987;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245033	23245033	23245033	-
NM_003982.4(SLC7A7):c.998+8T>C	9056	SLC7A7	Likely benign	-1	RCV002734966;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245034	23245034	NC_000014.8:g.23245034A>G	-
NM_003982.4(SLC7A7):c.998+5G>A	9056	SLC7A7	Uncertain significance	554612459	RCV001864711;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245037	23245037	23245037	-
NM_003982.4(SLC7A7):c.981C>T (p.Ser327=)	9056	SLC7A7	Likely benign	139335972	RCV001395442;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245059	23245059	23245059	-
NM_003982.4(SLC7A7):c.975T>C (p.Asn325=)	9056	SLC7A7	Likely benign	2038593013	RCV001421324;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245065	23245065	23245065	-
NM_003982.4(SLC7A7):c.974A>G (p.Asn325Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002795696;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245066	23245066	NC_000014.8:g.23245066T>C	-
NM_003982.4(SLC7A7):c.972C>G (p.Leu324=)	9056	SLC7A7	Likely benign	1239008031	RCV002089707;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245068	23245068	23245068	-
NM_003982.4(SLC7A7):c.966T>C (p.Gly322=)	9056	SLC7A7	Likely benign	780862401	RCV000440303\|RCV001417043;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245074	23245074	14:g.23245074A>G	ClinGen:CA7104533	CN169374 not specified;
NM_003982.4(SLC7A7):c.966T>G (p.Gly322=)	9056	SLC7A7	Likely benign	780862401	RCV001394284;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245074	23245074	23245074	-
NM_003982.4(SLC7A7):c.956C>T (p.Ser319Phe)	9056	SLC7A7	Uncertain significance	1156861166	RCV001327406;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245084	23245084	23245084	-
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)	9056	SLC7A7	Uncertain significance	201534081	RCV000364794;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245086	23245086	14:g.23245086T>A	ClinGen:CA7104535	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)	9056	SLC7A7	Conflicting interpretations of pathogenicity	539843065	RCV000272643\|RCV002262978;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23245109	23245109	14:g.23245109T>C	ClinGen:CA7104537	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.928T>A (p.Trp310Arg)	9056	SLC7A7	Uncertain significance	-1	RCV002624893;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245112	23245112	NC_000014.8:g.23245112A>T	-
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg)	9056	SLC7A7	Uncertain significance	144264145	RCV000634957\|RCV003403459;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|	14	23245124	23245124	NC_000014.8:g.23245124C>G	ClinGen:CA7104540	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.911T>A (p.Ile304Lys)	9056	SLC7A7	Uncertain significance	1277218486	RCV001901283;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245129	23245129	23245129	-
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser)	9056	SLC7A7	Uncertain significance	1409622896	RCV001058257\|RCV002553842;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23245144	23245144	14:g.23245144G>C	-
NM_003982.4(SLC7A7):c.895-6C>T	9056	SLC7A7	Likely benign	-1	RCV003007871;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245151	23245151	NC_000014.8:g.23245151G>A	-
NM_003982.4(SLC7A7):c.895-7C>G	9056	SLC7A7	Likely benign	-1	RCV002853232;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245152	23245152	NC_000014.8:g.23245152G>C	-
NM_003982.4(SLC7A7):c.895-20C>T	9056	SLC7A7	Benign	376455152	RCV002115741;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245165	23245165	23245165	-
NM_003982.4(SLC7A7):c.894+15C>T	9056	SLC7A7	Likely benign	-1	RCV003091851;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245389	23245389	NC_000014.8:g.23245389G>A	-
NM_003982.4(SLC7A7):c.894+13dup	9056	SLC7A7	Likely benign	779202322	RCV002174145;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245390	23245391	23245390	-
NM_003982.4(SLC7A7):c.894+10T>A	9056	SLC7A7	Likely benign	769176965	RCV001436032;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245394	23245394	23245394	-
NM_003982.4(SLC7A7):c.894+6G>A	9056	SLC7A7	Uncertain significance	373812507	RCV000686855;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245398	23245398	NC_000014.8:g.23245398C>T	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.891T>C (p.Ala297=)	9056	SLC7A7	Likely benign	-1	RCV002991742;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245407	23245407		-
NM_003982.4(SLC7A7):c.886G>A (p.Val296Ile)	9056	SLC7A7	Uncertain significance	-1	RCV002908733;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245412	23245412	NC_000014.8:g.23245412C>T	-
NM_003982.4(SLC7A7):c.883G>C (p.Ala295Pro)	9056	SLC7A7	Uncertain significance	765772581	RCV002044078;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245415	23245415	23245415	-
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)	9056	SLC7A7	Likely benign	750881343	RCV000917596;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245416	23245416	14:g.23245416A>G	-
NM_003982.4(SLC7A7):c.864A>G (p.Arg288=)	9056	SLC7A7	Likely benign	1304389598	RCV001483563;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245434	23245434	23245434	-
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)	9056	SLC7A7	Likely benign	143240690	RCV000611841\|RCV000930622;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245436	23245436	14:g.23245436T>G	ClinGen:CA7104571	CN169374 not specified;
NM_003982.4(SLC7A7):c.861G>A (p.Met287Ile)	9056	SLC7A7	Uncertain significance	-1	RCV002909714;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245437	23245437	NC_000014.8:g.23245437C>T	-
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg)	9056	SLC7A7	Uncertain significance	755142027	RCV001054981;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245438	23245438	14:g.23245438A>C	-
NM_003982.4(SLC7A7):c.857A>G (p.Asp286Gly)	9056	SLC7A7	Uncertain significance	777555880	RCV001941074;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245441	23245441	23245441	-
NM_003982.4(SLC7A7):c.854T>C (p.Leu285Pro)	9056	SLC7A7	Uncertain significance	-1	RCV003065585;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245444	23245444	NC_000014.8:g.23245444A>G	-
NM_003982.4(SLC7A7):c.852G>A (p.Val284=)	9056	SLC7A7	Likely benign	1351778419	RCV002185490;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245446	23245446	23245446	-
NM_003982.4(SLC7A7):c.846T>C (p.Tyr282=)	9056	SLC7A7	Likely benign	2038603917	RCV001481716;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245452	23245452	23245452	-
NM_003982.4(SLC7A7):c.844T>C (p.Tyr282His)	9056	SLC7A7	Uncertain significance	-1	RCV002632251;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245454	23245454	NC_000014.8:g.23245454A>G	-
NM_003982.4(SLC7A7):c.841T>C (p.Tyr281His)	9056	SLC7A7	Uncertain significance	2139388993	RCV002045087;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245457	23245457	23245457	-
NM_003982.4(SLC7A7):c.837G>A (p.Val279=)	9056	SLC7A7	Likely benign	-1	RCV003018486;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245461	23245461		-
NM_003982.4(SLC7A7):c.834T>C (p.Asn278=)	9056	SLC7A7	Likely benign	-1	RCV002979116;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245464	23245464		-
NM_003982.4(SLC7A7):c.833A>T (p.Asn278Ile)	9056	SLC7A7	Uncertain significance	-1	RCV003077226;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245465	23245465	NC_000014.8:g.23245465T>A	-
NM_003982.4(SLC7A7):c.828G>A (p.Leu276=)	9056	SLC7A7	Likely benign	-1	RCV002900241;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245470	23245470		-
NM_003982.4(SLC7A7):c.825C>T (p.Ile275=)	9056	SLC7A7	Likely benign	2139389052	RCV001403408;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245473	23245473	23245473	-
NM_003982.4(SLC7A7):c.822T>C (p.Tyr274=)	9056	SLC7A7	Likely benign	-1	RCV002939018;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245476	23245476		-
NM_003982.4(SLC7A7):c.813C>A (p.Thr271=)	9056	SLC7A7	Likely benign	2139389124	RCV002200079;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245485	23245485	23245485	-
NM_003982.4(SLC7A7):c.805A>G (p.Ile269Val)	9056	SLC7A7	Uncertain significance	-1	RCV003100344\|RCV003100343;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23245493	23245493	NC_000014.8:g.23245493T>C	-
NM_003982.4(SLC7A7):c.798C>G (p.Ser266=)	9056	SLC7A7	Likely benign	2139389185	RCV001486895;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245500	23245500	23245500	-
NM_003982.4(SLC7A7):c.795C>T (p.Ile265=)	9056	SLC7A7	Likely benign	777140678	RCV000426399\|RCV000931804;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245503	23245503	14:g.23245503G>A	ClinGen:CA7104582	CN169374 not specified;
NM_003982.4(SLC7A7):c.792C>G (p.Gly264=)	9056	SLC7A7	Likely benign	770260977	RCV000980606;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245506	23245506	14:g.23245506G>C	-
NM_003982.4(SLC7A7):c.781C>T (p.Leu261Phe)	9056	SLC7A7	Uncertain significance	2038606088	RCV001314946;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245517	23245517	23245517	-
NM_003982.4(SLC7A7):c.779C>T (p.Pro260Leu)	9056	SLC7A7	Uncertain significance	-1	RCV003058796;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245519	23245519	NC_000014.8:g.23245519G>A	-
NM_003982.4(SLC7A7):c.778C>T (p.Pro260Ser)	9056	SLC7A7	Uncertain significance	773808071	RCV001111557;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245520	23245520	14:g.23245520G>A	-
NM_003982.4(SLC7A7):c.777G>T (p.Leu259=)	9056	SLC7A7	Likely benign	-1	RCV002730276;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245521	23245521		-
NM_003982.4(SLC7A7):c.775C>T (p.Leu259=)	9056	SLC7A7	Likely benign	-1	RCV002717384;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245523	23245523		-
NM_003982.4(SLC7A7):c.771-5T>C	9056	SLC7A7	Likely benign	371954584	RCV000938374;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245532	23245532	14:g.23245532A>G	-
NM_003982.4(SLC7A7):c.771-12A>G	9056	SLC7A7	Likely benign	554947145	RCV002131264;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245539	23245539	23245539	-
NM_003982.4(SLC7A7):c.771-15T>G	9056	SLC7A7	Likely benign	-1	RCV003117000;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245542	23245542	NC_000014.8:g.23245542A>C	-
NM_003982.4(SLC7A7):c.771-18del	9056	SLC7A7	Benign	-1	RCV002847688;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23245545	23245545	NC_000014.8:g.23245548del	-
NM_003982.4(SLC7A7):c.770+10G>A	9056	SLC7A7	Likely benign	-1	RCV002791330;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23247992	23247992	NC_000014.8:g.23247992C>T	-
NM_003982.4(SLC7A7):c.770+9T>G	9056	SLC7A7	Uncertain significance	2038662345	RCV001351300;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23247993	23247993	23247993	-
NM_003982.4(SLC7A7):c.770+7A>G	9056	SLC7A7	Likely benign	774913676	RCV001409326;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23247995	23247995	23247995	-
NM_003982.4(SLC7A7):c.762T>C (p.Asn254=)	9056	SLC7A7	Likely benign	2139394710	RCV001438292;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248010	23248010	23248010	-
NM_003982.4(SLC7A7):c.760A>C (p.Asn254His)	9056	SLC7A7	Uncertain significance	2038663013	RCV001279688;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248012	23248012	14:g.23248012T>G	-
NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn)	9056	SLC7A7	Uncertain significance	760849909	RCV001216813\|RCV001760198;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN517202	14	23248017	23248017	14:g.23248017A>T	-
NM_003982.4(SLC7A7):c.748G>A (p.Glu250Lys)	9056	SLC7A7	Uncertain significance	1225308034	RCV000798889;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248024	23248024	14:g.23248024C>T	-
NM_003982.4(SLC7A7):c.746C>T (p.Thr249Ile)	9056	SLC7A7	Uncertain significance	2139394765	RCV002023556;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248026	23248026	23248026	-
NM_003982.4(SLC7A7):c.740A>G (p.Tyr247Cys)	9056	SLC7A7	Uncertain significance	765105909	RCV001351854;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248032	23248032	23248032	-
NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002281881\|RCV003096369;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248035	23248035	23248035	-
NM_003982.4(SLC7A7):c.732C>T (p.Thr244=)	9056	SLC7A7	Likely benign	758362364	RCV001431195;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248040	23248040	23248040	-
NM_003982.4(SLC7A7):c.729C>T (p.Asp243=)	9056	SLC7A7	Likely benign	2139394830	RCV001398254;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248043	23248043	23248043	-
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	151261004	RCV000329715\|RCV001706476\|RCV002262979;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23248052	23248052	14:g.23248052T>G	ClinGen:CA7104619	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.708G>T (p.Leu236=)	9056	SLC7A7	Likely benign	1566442536	RCV002120908;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248064	23248064	23248064	-
NM_003982.4(SLC7A7):c.704C>G (p.Ala235Gly)	9056	SLC7A7	Uncertain significance	755663586	RCV001235877;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248068	23248068	14:g.23248068G>C	-
NM_003982.4(SLC7A7):c.704C>T (p.Ala235Val)	9056	SLC7A7	Uncertain significance	755663586	RCV001964292;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248068	23248068	23248068	-
NM_003982.4(SLC7A7):c.699C>T (p.Tyr233=)	9056	SLC7A7	Likely benign	767657396	RCV001392828;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248073	23248073	23248073	-
NM_003982.4(SLC7A7):c.688C>T (p.Leu230=)	9056	SLC7A7	Likely benign	749678651	RCV001464045;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248084	23248084	23248084	-
NM_003982.4(SLC7A7):c.683T>C (p.Ile228Thr)	9056	SLC7A7	Uncertain significance	-1	RCV003078561;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248089	23248089	NC_000014.8:g.23248089A>G	-
NM_003982.4(SLC7A7):c.681C>T (p.Asp227=)	9056	SLC7A7	Likely benign	774892456	RCV000432615\|RCV000932523;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248091	23248091	14:g.23248091G>A	ClinGen:CA7104627	CN169374 not specified;
NM_003982.4(SLC7A7):c.675G>C (p.Val225=)	9056	SLC7A7	Likely benign	772172822	RCV001502919;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248097	23248097	23248097	-
NM_003982.4(SLC7A7):c.666A>C (p.Ser222=)	9056	SLC7A7	Likely benign	140599841	RCV001407434;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248106	23248106	14:g.23248106T>G	-
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)	9056	SLC7A7	Benign	1805061	RCV000128146\|RCV000386522\|RCV001824628;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23248112	23248112	14:g.23248112A>G	ClinGen:CA293591	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.659G>A (p.Gly220Asp)	9056	SLC7A7	Uncertain significance	2038666045	RCV001215322;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248113	23248113	14:g.23248113C>T	-
NM_003982.4(SLC7A7):c.658G>C (p.Gly220Arg)	9056	SLC7A7	Uncertain significance	1488108533	RCV001053970;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248114	23248114	14:g.23248114C>G	-
NM_003982.4(SLC7A7):c.656A>T (p.Glu219Val)	9056	SLC7A7	Uncertain significance	-1	RCV002690119;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248116	23248116	NC_000014.8:g.23248116T>A	-
NM_003982.4(SLC7A7):c.645G>A (p.Glu215=)	9056	SLC7A7	Likely benign	2139395059	RCV002200673;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248127	23248127	23248127	-
NM_003982.4(SLC7A7):c.642T>C (p.Phe214=)	9056	SLC7A7	Likely benign	2139395072	RCV001439331;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248130	23248130	23248130	-
NM_003982.4(SLC7A7):c.632C>G (p.Ser211Cys)	9056	SLC7A7	Uncertain significance	1022076011	RCV002048902;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248140	23248140	23248140	-
NM_003982.4(SLC7A7):c.627A>G (p.Gly209=)	9056	SLC7A7	Likely benign	-1	RCV002815369;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248145	23248145		-
NM_003982.4(SLC7A7):c.626-13T>A	9056	SLC7A7	Likely benign	-1	RCV003060880;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248159	23248159	NC_000014.8:g.23248159A>T	-
NM_003982.4(SLC7A7):c.626-14T>G	9056	SLC7A7	Likely benign	2139395142	RCV002109029;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248160	23248160	23248160	-
NM_003982.4(SLC7A7):c.626-18A>G	9056	SLC7A7	Likely benign	-1	RCV003080606;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23248164	23248164	NC_000014.8:g.23248164T>C	-
NM_003982.4(SLC7A7):c.625+18T>C	9056	SLC7A7	Likely benign	974421997	RCV002100022;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249117	23249117	23249117	-
NM_003982.4(SLC7A7):c.625+12T>C	9056	SLC7A7	Likely benign	-1	RCV002593788;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249123	23249123	NC_000014.8:g.23249123A>G	-
NM_003982.4(SLC7A7):c.625+10A>G	9056	SLC7A7	Likely benign	200420079	RCV000634959;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249125	23249125	14:g.23249125T>C	ClinGen:CA7104652	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.625+5G>T	9056	SLC7A7	Uncertain significance	2038685896	RCV002016712;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249130	23249130	23249130	-
NM_003982.4(SLC7A7):c.618T>G (p.Leu206=)	9056	SLC7A7	Likely benign	2038686425	RCV002117290;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249142	23249142	23249142	-
NM_003982.4(SLC7A7):c.615A>G (p.Arg205=)	9056	SLC7A7	Likely benign	-1	RCV003023714;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249145	23249145		-
NM_003982.4(SLC7A7):c.612T>C (p.Val204=)	9056	SLC7A7	Likely benign	371412051	RCV001477577;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249148	23249148	23249148	-
NM_003982.4(SLC7A7):c.606C>T (p.Gly202=)	9056	SLC7A7	Uncertain significance	-1	RCV002681153;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249154	23249154		-
NM_003982.4(SLC7A7):c.605G>A (p.Gly202Asp)	9056	SLC7A7	Uncertain significance	-1	RCV003060361;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249155	23249155	NC_000014.8:g.23249155C>T	-
NM_003982.4(SLC7A7):c.603A>G (p.Ala201=)	9056	SLC7A7	Likely benign	2139397186	RCV001483019;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249157	23249157	23249157	-
NM_003982.4(SLC7A7):c.602C>T (p.Ala201Val)	9056	SLC7A7	Uncertain significance	1240082554	RCV001063085;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249158	23249158	14:g.23249158G>A	-
NM_003982.4(SLC7A7):c.598G>A (p.Val200Ile)	9056	SLC7A7	Uncertain significance	-1	RCV002663951;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249162	23249162	NC_000014.8:g.23249162C>T	-
NM_003982.4(SLC7A7):c.597C>T (p.Ile199=)	9056	SLC7A7	Likely benign	756887684	RCV000634960;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249163	23249163	14:g.23249163G>A	ClinGen:CA7104659	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val)	9056	SLC7A7	Uncertain significance	779266344	RCV000294480;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249165	23249165	14:g.23249165T>C	ClinGen:CA7104660	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	750720946	RCV001111558\|RCV002264187;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23249169	23249169	14:g.23249169C>T	-
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)	9056	SLC7A7	Likely benign	750720946	RCV001410843;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249169	23249169	23249169	-
NM_003982.4(SLC7A7):c.590C>T (p.Ala197Val)	9056	SLC7A7	Uncertain significance	780597284	RCV001060934;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249170	23249170	14:g.23249170G>A	-
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr)	9056	SLC7A7	Uncertain significance	1005993109	RCV001368366\|RCV002547888;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23249171	23249171	23249171	-
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)	9056	SLC7A7	Likely benign	747530058	RCV001396715;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249172	23249172	23249172	-
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)	9056	SLC7A7	Likely benign	768649205	RCV001279689;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249175	23249175	14:g.23249175C>T	-
NM_003982.4(SLC7A7):c.583C>T (p.Leu195=)	9056	SLC7A7	Likely benign	775643218	RCV002106973;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249177	23249177	23249177	-
NM_003982.4(SLC7A7):c.580G>A (p.Ala194Thr)	9056	SLC7A7	Uncertain significance	-1	RCV003081165;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249180	23249180	NC_000014.8:g.23249180C>T	-
NM_003982.4(SLC7A7):c.577T>C (p.Leu193=)	9056	SLC7A7	Likely benign	770073141	RCV001392815;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249183	23249183	23249183	-
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)	9056	SLC7A7	Uncertain significance	386833820	RCV000049785\|RCV003226184;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374	14	23249189	23249189	14:g.23249189T>C	ClinGen:CA263829,UniProtKB:Q9UM01#VAR_039100	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.564C>T (p.Thr188=)	9056	SLC7A7	Likely benign	2139397358	RCV001403409;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249196	23249196	23249196	-
NM_003982.4(SLC7A7):c.558T>C (p.Ile186=)	9056	SLC7A7	Likely benign	567180118	RCV001497685;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249202	23249202	23249202	-
NM_003982.4(SLC7A7):c.555T>C (p.Asp185=)	9056	SLC7A7	Likely benign	2139397395	RCV002129299;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249205	23249205	23249205	-
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly)	9056	SLC7A7	Uncertain significance	2139397401	RCV001935835;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249206	23249206	23249206	-
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	146945921	RCV000920387;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249211	23249211	14:g.23249211T>G	-
NM_003982.4(SLC7A7):c.548T>C (p.Val183Ala)	9056	SLC7A7	Uncertain significance	771965858	RCV001935339;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249212	23249212	23249212	-
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)	9056	SLC7A7	Likely benign	145777568	RCV000903445\|RCV002264071;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23249217	23249217	14:g.23249217G>C	-
NM_003982.4(SLC7A7):c.531C>T (p.Val177=)	9056	SLC7A7	Likely benign	-1	RCV002663196;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249229	23249229		-
NM_003982.4(SLC7A7):c.528T>C (p.Tyr176=)	9056	SLC7A7	Likely benign	2139397490	RCV002143769;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249232	23249232	23249232	-
NM_003982.4(SLC7A7):c.522T>C (p.Cys174=)	9056	SLC7A7	Likely benign	-1	RCV002894665;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249238	23249238		-
NM_003982.4(SLC7A7):c.519C>T (p.Asn173=)	9056	SLC7A7	Likely benign	2038690400	RCV001429428;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249241	23249241	23249241	-
NM_003982.4(SLC7A7):c.516T>C (p.Ile172=)	9056	SLC7A7	Likely benign	527568845	RCV001471375;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249244	23249244	23249244	-
NM_003982.4(SLC7A7):c.510C>T (p.Thr170=)	9056	SLC7A7	Likely benign	761380240	RCV001421835;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249250	23249250	23249250	-
NM_003982.4(SLC7A7):c.500G>C (p.Cys167Ser)	9056	SLC7A7	Uncertain significance	-1	RCV003007460;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249260	23249260	NC_000014.8:g.23249260C>G	-
NM_003982.4(SLC7A7):c.500-17T>C	9056	SLC7A7	Likely benign	-1	RCV003070038;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249277	23249277	NC_000014.8:g.23249277A>G	-
NM_003982.4(SLC7A7):c.500-20C>G	9056	SLC7A7	Benign/Likely benign	375933584	RCV002107135;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249280	23249280	23249280	-
NM_003982.4(SLC7A7):c.500-20C>T	9056	SLC7A7	Likely benign	-1	RCV002922767;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249280	23249280	NC_000014.8:g.23249280G>A	-
NM_003982.4(SLC7A7):c.500-32T>C	9056	SLC7A7	Benign	11568429	RCV001534008\|RCV001538039;	N	MedGen:C3661900\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23249292	23249292	23249292	-
NM_003982.4(SLC7A7):c.499+9G>C	9056	SLC7A7	Likely benign	893853391	RCV001279690;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282100	23282100	14:g.23282100C>G	-
NM_003982.4(SLC7A7):c.499+9G>T	9056	SLC7A7	Likely benign	893853391	RCV001458452;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282100	23282100	23282100	-
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)	9056	SLC7A7	Benign	8018462	RCV000128149\|RCV000333159\|RCV001824631;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23282110	23282110	14:g.23282110A>G	ClinGen:CA293606	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.487G>T (p.Ala163Ser)	9056	SLC7A7	Uncertain significance	866437643	RCV000371640;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282121	23282121	14:g.23282121C>A	ClinGen:CA10645028	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.486T>G (p.Ala162=)	9056	SLC7A7	Likely benign	1594985030	RCV001477344;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282122	23282122	14:g.23282122A>C	-
NM_003982.4(SLC7A7):c.483G>A (p.Leu161=)	9056	SLC7A7	Likely benign	-1	RCV002846517;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282125	23282125		-
NM_003982.4(SLC7A7):c.480G>A (p.Leu160=)	9056	SLC7A7	Likely benign	143867688	RCV001446367;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282128	23282128	23282128	-
NM_003982.4(SLC7A7):c.478C>T (p.Leu160=)	9056	SLC7A7	Likely benign	376853890	RCV002084580;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282130	23282130	23282130	-
NM_003982.4(SLC7A7):c.477C>T (p.Arg159=)	9056	SLC7A7	Likely benign	753120791	RCV002083544;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282131	23282131	23282131	-
NM_003982.4(SLC7A7):c.476G>A (p.Arg159His)	9056	SLC7A7	Uncertain significance	756297612	RCV000523336\|RCV001829529;	N	MedGen:CN517202\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282132	23282132	14:g.23282132C>T	ClinGen:CA7104702	CN169374 not specified;
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)	9056	SLC7A7	Conflicting interpretations of pathogenicity	11568437	RCV000186169\|RCV000279372\|RCV001778777\|RCV002262777;	N	MedGen:CN517202\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23282133	23282133	NC_000014.8:g.23282133G>A	ClinGen:CA312994,UniProtKB:Q9UM01#VAR_039099	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.474C>T (p.Ser158=)	9056	SLC7A7	Likely benign	373825689	RCV000981462;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282134	23282134	14:g.23282134G>A	-
NM_003982.4(SLC7A7):c.472A>G (p.Ser158Gly)	9056	SLC7A7	Uncertain significance	-1	RCV003065418;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282136	23282136	NC_000014.8:g.23282136T>C	-
NM_003982.4(SLC7A7):c.471C>T (p.Ala157=)	9056	SLC7A7	Likely benign	2138661685	RCV001501549;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282137	23282137	23282137	-
NM_003982.4(SLC7A7):c.469G>C (p.Ala157Pro)	9056	SLC7A7	Uncertain significance	2039337757	RCV001040504;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282139	23282139	14:g.23282139C>G	-
NM_003982.4(SLC7A7):c.468T>C (p.Ala156=)	9056	SLC7A7	Likely benign	1225448681	RCV001399137;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282140	23282140	23282140	-
NM_003982.4(SLC7A7):c.460C>T (p.Pro154Ser)	9056	SLC7A7	Uncertain significance	370225997	RCV002042026\|RCV002545683;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23282148	23282148	23282148	-
NM_003982.4(SLC7A7):c.460C>G (p.Pro154Ala)	9056	SLC7A7	Uncertain significance	-1	RCV003224735;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282148	23282148		-
NM_003982.4(SLC7A7):c.459C>T (p.Ala153=)	9056	SLC7A7	Likely benign	-1	RCV002997060;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282149	23282149		-
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=)	9056	SLC7A7	Benign	8016634	RCV000336852\|RCV000421977\|RCV002262980;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23282152	23282152	14:g.23282152G>A	ClinGen:CA7104708	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)	9056	SLC7A7	Likely benign	375485114	RCV001465885;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282161	23282161	23282161	-
NM_003982.4(SLC7A7):c.446C>T (p.Pro149Leu)	9056	SLC7A7	Uncertain significance	796145994	RCV001279691;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282162	23282162	14:g.23282162G>A	-
NM_003982.4(SLC7A7):c.442T>C (p.Phe148Leu)	9056	SLC7A7	Uncertain significance	2138661871	RCV002011046;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282166	23282166	23282166	-
NM_003982.4(SLC7A7):c.439C>T (p.Leu147Phe)	9056	SLC7A7	Uncertain significance	146280056	RCV001279692;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282169	23282169	14:g.23282169G>A	-
NM_003982.4(SLC7A7):c.437C>T (p.Pro146Leu)	9056	SLC7A7	Uncertain significance	2039338903	RCV001374103;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282171	23282171	23282171	-
NM_003982.4(SLC7A7):c.430G>C (p.Val144Leu)	9056	SLC7A7	Uncertain significance	-1	RCV002996827;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282178	23282178	NC_000014.8:g.23282178C>G	-
NM_003982.4(SLC7A7):c.428T>C (p.Met143Thr)	9056	SLC7A7	Uncertain significance	-1	RCV002725927;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282180	23282180	NC_000014.8:g.23282180A>G	-
NM_003982.4(SLC7A7):c.426C>T (p.Tyr142=)	9056	SLC7A7	Likely benign	1386037910	RCV001460232;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282182	23282182	23282182	-
NM_003982.4(SLC7A7):c.423C>T (p.Asn141=)	9056	SLC7A7	Likely benign	-1	RCV003024092;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282185	23282185		-
NM_003982.4(SLC7A7):c.422A>G (p.Asn141Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002637290;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282186	23282186	NC_000014.8:g.23282186T>C	-
NM_003982.4(SLC7A7):c.421A>T (p.Asn141Tyr)	9056	SLC7A7	Uncertain significance	-1	RCV002785405;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282187	23282187	NC_000014.8:g.23282187T>A	-
NM_003982.4(SLC7A7):c.420C>T (p.Ala140=)	9056	SLC7A7	Likely benign	2138662044	RCV002087371;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282188	23282188	23282188	-
NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)	9056	SLC7A7	Uncertain significance	-1	RCV003136823;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282202	23282202	NC_000014.8:g.23282202C>T	-
NM_003982.4(SLC7A7):c.402C>T (p.Ile134=)	9056	SLC7A7	Likely benign	375801568	RCV001482228;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282206	23282206	23282206	-
NM_003982.4(SLC7A7):c.399C>A (p.Ala133=)	9056	SLC7A7	Likely benign	2138662176	RCV001499455;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282209	23282209	23282209	-
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=)	9056	SLC7A7	Likely benign	1473768240	RCV001464976;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282218	23282218	23282218	-
NM_003982.4(SLC7A7):c.390C>T (p.Thr130=)	9056	SLC7A7	Likely benign	1473768240	RCV002182610;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282218	23282218	23282218	-
NM_003982.4(SLC7A7):c.380T>C (p.Ile127Thr)	9056	SLC7A7	Uncertain significance	764284986	RCV001317434\|RCV002543726;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23282228	23282228	23282228	-
NM_003982.4(SLC7A7):c.375C>G (p.Leu125=)	9056	SLC7A7	Likely benign	199724860	RCV000613175\|RCV001476478;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282233	23282233	14:g.23282233G>C	ClinGen:CA7104720	CN169374 not specified;
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)	9056	SLC7A7	Conflicting interpretations of pathogenicity	386833814	RCV000049779\|RCV001778694;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374	14	23282237	23282237	14:g.23282237A>G	ClinGen:CA263811,UniProtKB:Q9UM01#VAR_039096	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.369C>G (p.Ser123=)	9056	SLC7A7	Likely benign	-1	RCV002995963;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282239	23282239		-
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg)	9056	SLC7A7	Uncertain significance	1064797037	RCV000485223\|RCV000707234;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282247	23282248	NC_000014.8:g.23282247_23282248delinsTT	ClinGen:CA16619842	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe)	9056	SLC7A7	Uncertain significance	750589845	RCV001113560;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282256	23282256	14:g.23282256T>A	-
NM_003982.4(SLC7A7):c.349T>G (p.Phe117Val)	9056	SLC7A7	Uncertain significance	748090602	RCV002043826;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282259	23282259	23282259	-
NM_003982.4(SLC7A7):c.345T>C (p.Leu115=)	9056	SLC7A7	Likely benign	2039343008	RCV002137458;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282263	23282263	23282263	-
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	777682875	RCV000396241;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282266	23282266	14:g.23282266G>A	ClinGen:CA7104727	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	139270936	RCV000284819\|RCV000420340;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374	14	23282269	23282269	NC_000014.8:g.23282269T>G	ClinGen:CA7104728	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.337G>A (p.Gly113Arg)	9056	SLC7A7	Uncertain significance	2039343325	RCV001207837;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282271	23282271	14:g.23282271C>T	-
NM_003982.4(SLC7A7):c.330C>T (p.Ala110=)	9056	SLC7A7	Likely benign	-1	RCV003037726;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282278	23282278		-
NM_003982.4(SLC7A7):c.321C>T (p.Ile107=)	9056	SLC7A7	Likely benign	1267133279	RCV001427591;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282287	23282287	23282287	-
NM_003982.4(SLC7A7):c.321C>A (p.Ile107=)	9056	SLC7A7	Likely benign	1267133279	RCV002137034;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282287	23282287	23282287	-
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr)	9056	SLC7A7	Uncertain significance	775943127	RCV000706503;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282295	23282295	NC_000014.8:g.23282295C>T	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.308G>A (p.Ser103Asn)	9056	SLC7A7	Uncertain significance	1253377292	RCV001964868;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282300	23282300	23282300	-
NM_003982.4(SLC7A7):c.297A>C (p.Lys99Asn)	9056	SLC7A7	Uncertain significance	761270703	RCV000690202;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282311	23282311	14:g.23282311T>G	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.297A>G (p.Lys99=)	9056	SLC7A7	Likely benign	761270703	RCV002110584;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282311	23282311	23282311	-
NM_003982.4(SLC7A7):c.291T>C (p.Ile97=)	9056	SLC7A7	Likely benign	1373571295	RCV001411954;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282317	23282317	23282317	-
NM_003982.4(SLC7A7):c.286A>G (p.Thr96Ala)	9056	SLC7A7	Uncertain significance	1594985650	RCV000819709;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282322	23282322	14:g.23282322T>C	-
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)	9056	SLC7A7	Likely benign	754387668	RCV000612795\|RCV000943175;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282335	23282335	14:g.23282335C>T	ClinGen:CA7104736	CN169374 not specified;
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	9056	SLC7A7	Benign	11568438	RCV000424204\|RCV000553552\|RCV001729587\|RCV002263681;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23282336	23282336	14:g.23282336G>A	ClinGen:CA7104737	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.272C>A (p.Ala91Glu)	9056	SLC7A7	Uncertain significance	11568438	RCV001246399;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282336	23282336	14:g.23282336G>T	-
NM_003982.4(SLC7A7):c.269A>T (p.Tyr90Phe)	9056	SLC7A7	Uncertain significance	375791337	RCV001207796;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282339	23282339	14:g.23282339T>A	-
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys)	9056	SLC7A7	Uncertain significance	375791337	RCV001894294;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282339	23282339	23282339	-
NM_003982.4(SLC7A7):c.267T>C (p.Cys89=)	9056	SLC7A7	Likely benign	1160975991	RCV001407671;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282341	23282341	23282341	-
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)	9056	SLC7A7	Uncertain significance	368317123	RCV000538633\|RCV001764548;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN517202	14	23282358	23282358	14:g.23282358C>T	ClinGen:CA7104740	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)	9056	SLC7A7	Likely benign	146077876	RCV000913255;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282359	23282359	14:g.23282359G>A	-
NM_003982.4(SLC7A7):c.249C>G (p.Ser83=)	9056	SLC7A7	Likely benign	-1	RCV002848424;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282359	23282359		-
NM_003982.4(SLC7A7):c.248C>A (p.Ser83Tyr)	9056	SLC7A7	Uncertain significance	-1	RCV003021917;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282360	23282360	NC_000014.8:g.23282360G>T	-
NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro)	9056	SLC7A7	Uncertain significance	755890052	RCV001757845\|RCV002488516;	N	MedGen:C3661900\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282366	23282366	23282366	-
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe)	9056	SLC7A7	Uncertain significance	371860097	RCV001240152\|RCV003166498;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23282367	23282367	14:g.23282367G>A	-
NM_003982.4(SLC7A7):c.237G>A (p.Gly79=)	9056	SLC7A7	Likely benign	1271709166	RCV002066412;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282371	23282371	14:g.23282371C>T	-
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	139776370	RCV000342178\|RCV000436290\|RCV001796740;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374\|MedGen:C3661900	14	23282374	23282374	NC_000014.8:g.23282374G>A	ClinGen:CA7104745	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.217C>T (p.Leu73=)	9056	SLC7A7	Likely benign	2138663228	RCV002154288;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282391	23282391	23282391	-
NM_003982.4(SLC7A7):c.213C>G (p.Leu71=)	9056	SLC7A7	Likely benign	-1	RCV002615020;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282395	23282395		-
NM_003982.4(SLC7A7):c.208G>C (p.Gly70Arg)	9056	SLC7A7	Uncertain significance	1195832434	RCV001242773;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282400	23282400	14:g.23282400C>G	-
NM_003982.4(SLC7A7):c.201C>G (p.Ala67=)	9056	SLC7A7	Likely benign	1253918930	RCV001501464;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282407	23282407	14:g.23282407G>C	-
NM_003982.4(SLC7A7):c.196A>G (p.Ser66Gly)	9056	SLC7A7	Uncertain significance	-1	RCV002675907;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282412	23282412	NC_000014.8:g.23282412T>C	-
NM_003982.4(SLC7A7):c.192A>C (p.Ile64=)	9056	SLC7A7	Likely benign	-1	RCV002894518;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282416	23282416		-
NM_003982.4(SLC7A7):c.191T>C (p.Ile64Thr)	9056	SLC7A7	Uncertain significance	2138663343	RCV001998886;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282417	23282417	23282417	-
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)	9056	SLC7A7	Uncertain significance	2039348270	RCV001237260;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282421	23282421	14:g.23282421G>A	-
NM_003982.4(SLC7A7):c.181G>A (p.Gly61Ser)	9056	SLC7A7	Uncertain significance	-1	RCV002591517;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282427	23282427	NC_000014.8:g.23282427C>T	-
NM_003982.4(SLC7A7):c.165C>T (p.Ile55=)	9056	SLC7A7	Likely benign	2138663461	RCV002152535;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282443	23282443	23282443	-
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)	9056	SLC7A7	Uncertain significance	121908677	RCV000006589;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282447	23282447	14:g.23282447C>A	ClinGen:CA253808,UniProtKB:Q9UM01#VAR_010261,OMIM:603593.0007	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)	9056	SLC7A7	Benign	1805059	RCV000128148\|RCV000396503\|RCV001824630;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23282449	23282449	14:g.23282449C>T	ClinGen:CA293601	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.153C>T (p.Ile51=)	9056	SLC7A7	Likely benign	762189517	RCV000935829;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282455	23282455	14:g.23282455G>A	-
NM_003982.4(SLC7A7):c.149T>C (p.Met50Thr)	9056	SLC7A7	Uncertain significance	386833811	RCV000707106;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282459	23282459	14:g.23282459A>G	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.144G>C (p.Gly48=)	9056	SLC7A7	Likely benign	1298784269	RCV001419415;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282464	23282464	14:g.23282464C>G	-
NM_003982.4(SLC7A7):c.129G>A (p.Val43=)	9056	SLC7A7	Likely benign	2138663660	RCV001421461;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282479	23282479	23282479	-
NM_003982.4(SLC7A7):c.127G>A (p.Val43Met)	9056	SLC7A7	Uncertain significance	-1	RCV003079439;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282481	23282481	NC_000014.8:g.23282481C>T	-
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=)	9056	SLC7A7	Uncertain significance	773097626	RCV001295115;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282482	23282482	23282482	-
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)	9056	SLC7A7	Conflicting interpretations of pathogenicity	367673752	RCV000921859;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282485	23282485	14:g.23282485G>A	-
NM_003982.4(SLC7A7):c.118C>T (p.Leu40Phe)	9056	SLC7A7	Uncertain significance	2138663742	RCV001881067;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282490	23282490	23282490	-
NM_003982.4(SLC7A7):c.117G>A (p.Leu39=)	9056	SLC7A7	Likely benign	2039350455	RCV002114140;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282491	23282491	23282491	-
NM_003982.4(SLC7A7):c.114A>G (p.Ser38=)	9056	SLC7A7	Likely benign	2138663780	RCV002071183;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282494	23282494	23282494	-
NM_003982.4(SLC7A7):c.106G>A (p.Glu36Lys)	9056	SLC7A7	Uncertain significance	763832201	RCV001373782;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282502	23282502	23282502	-
NM_003982.4(SLC7A7):c.105G>A (p.Lys35=)	9056	SLC7A7	Likely benign	753833842	RCV002183945;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282503	23282503	23282503	-
NM_003982.4(SLC7A7):c.99G>A (p.Leu33=)	9056	SLC7A7	Likely benign	757080971	RCV001429649;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282509	23282509	23282509	-
NM_003982.4(SLC7A7):c.98T>C (p.Leu33Pro)	9056	SLC7A7	Uncertain significance	1040738469	RCV002050868;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282510	23282510	23282510	-
NM_003982.4(SLC7A7):c.98T>A (p.Leu33Gln)	9056	SLC7A7	Uncertain significance	-1	RCV003058721;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282510	23282510	NC_000014.8:g.23282510A>T	-
NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)	9056	SLC7A7	Benign	45479698	RCV000186168\|RCV001114967\|RCV002262776;	N	MedGen:CN169374\|MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665	14	23282512	23282512	14:g.23282512C>T	ClinGen:CA312989	CN169374 not specified;
NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu)	9056	SLC7A7	Uncertain significance	142956369	RCV000705635;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282517	23282517	14:g.23282517C>G	-	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.84G>A (p.Pro28=)	9056	SLC7A7	Likely benign	746630301	RCV001394586;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282524	23282524	23282524	-
NM_003982.4(SLC7A7):c.83C>T (p.Pro28Leu)	9056	SLC7A7	Uncertain significance	-1	RCV002644516\|RCV002644517;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MeSH:D030342,MedGen:C0950123	14	23282525	23282525	NC_000014.8:g.23282525G>A	-
NM_003982.4(SLC7A7):c.66T>C (p.Asp22=)	9056	SLC7A7	Likely benign	2138664033	RCV001423704;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282542	23282542	23282542	-
NM_003982.4(SLC7A7):c.63T>A (p.Gly21=)	9056	SLC7A7	Likely benign	-1	RCV003114943;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282545	23282545		-
NM_003982.4(SLC7A7):c.58T>C (p.Leu20=)	9056	SLC7A7	Likely benign	1437964553	RCV001492735;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282550	23282550	14:g.23282550A>G	-
NM_003982.4(SLC7A7):c.55C>A (p.Pro19Thr)	9056	SLC7A7	Uncertain significance	-1	RCV002607271;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282553	23282553	NC_000014.8:g.23282553G>T	-
NM_003982.4(SLC7A7):c.54C>T (p.Ser18=)	9056	SLC7A7	Likely benign	2138664113	RCV001495844;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282554	23282554	23282554	-
NM_003982.4(SLC7A7):c.45G>T (p.Val15=)	9056	SLC7A7	Likely benign	-1	RCV002590834;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282563	23282563		-
NM_003982.4(SLC7A7):c.40G>A (p.Glu14Lys)	9056	SLC7A7	Uncertain significance	2138664158	RCV001945902;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282568	23282568	23282568	-
NM_003982.4(SLC7A7):c.39T>C (p.Pro13=)	9056	SLC7A7	Likely benign	200484429	RCV001423114;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282569	23282569	23282569	-
NM_003982.4(SLC7A7):c.29C>T (p.Ala10Val)	9056	SLC7A7	Uncertain significance	-1	RCV002620858;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282579	23282579	NC_000014.8:g.23282579G>A	-
NM_003982.4(SLC7A7):c.25G>A (p.Val9Met)	9056	SLC7A7	Uncertain significance	1594986371	RCV001346784;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282583	23282583	23282583	-
NM_003982.4(SLC7A7):c.16G>A (p.Glu6Lys)	9056	SLC7A7	Uncertain significance	2039354125	RCV002015763;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282592	23282592	23282592	-
NM_003982.4(SLC7A7):c.-18G>A	9056	SLC7A7	Likely benign	72552273	RCV000306989\|RCV000417698;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:CN169374	14	23282625	23282625	NC_000014.8:g.23282625C>T	ClinGen:CA7104777	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.-42-11C>T	9056	SLC7A7	Likely benign	371332274	RCV000363936;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23282660	23282660	NC_000014.8:g.23282660G>A	ClinGen:CA7104783	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.-43+11G>A	9056	SLC7A7	Uncertain significance	1455158611	RCV001114968;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23284518	23284518	14:g.23284518C>T	-
NM_003982.4(SLC7A7):c.-66C>A	9056	SLC7A7	Uncertain significance	886050406	RCV000398837;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23284552	23284552	NC_000014.8:g.23284552G>T	ClinGen:CA10645034	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.-73G>A	9056	SLC7A7	Uncertain significance	886050407	RCV000310311;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23284559	23284559	NC_000014.8:g.23284559C>T	ClinGen:CA10643925	C0268647 222700 Lysinuric protein intolerance;
NM_003982.4(SLC7A7):c.-86T>C	9056	SLC7A7	Benign	2281677	RCV000367365\|RCV001672495;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23284572	23284572	NC_000014.8:g.23284572A>G	ClinGen:CA7104798	C0268647 222700 Lysinuric protein intolerance;
NM_001126106.4(SLC7A7):c.-175+7G>C	9056	SLC7A7	Uncertain significance	886050408	RCV000275577;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23288840	23288840	NC_000014.8:g.23288840C>G	ClinGen:CA10634724	C0268647 222700 Lysinuric protein intolerance;
NM_001126106.4(SLC7A7):c.-234del	9056	SLC7A7	Uncertain significance	545840651	RCV000314276;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23288906	23288906	NC_000014.8:g.23288906del	ClinGen:CA10643934	C0268647 222700 Lysinuric protein intolerance;
NM_001126106.4(SLC7A7):c.-263G>C	9056	SLC7A7	Benign	17122772	RCV000371386\|RCV001711926;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23288935	23288935	14:g.23288935C>G	ClinGen:CA10643946	C0268647 222700 Lysinuric protein intolerance;
NM_001126106.4(SLC7A7):c.-263G>A	9056	SLC7A7	Uncertain significance	17122772	RCV000260359;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23288935	23288935	NC_000014.8:g.23288935C>T	ClinGen:CA10643950	C0268647 222700 Lysinuric protein intolerance;
NM_001126106.4(SLC7A7):c.-264C>T	9056	SLC7A7	Benign	8015849	RCV000317665;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470	14	23288936	23288936	NC_000014.8:g.23288936G>A	ClinGen:CA10639937	C0268647 222700 Lysinuric protein intolerance;
NM_001126106.4(SLC7A7):c.-281T>C	9056	SLC7A7	Benign	17122776	RCV000374625\|RCV001711927;	N	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700, Orphanet:470\|MedGen:C3661900	14	23288953	23288953	NC_000014.8:g.23288953A>G	ClinGen:CA10643951	C0268647 222700 Lysinuric protein intolerance;

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