30228[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 619047	NC_000002.12:g.44277853_44353364del	PREPL, SLC3A1	Deletion	Premature ovarian insufficiency	GPathogenic
Select item 526035	NC_000002.12:g.(?_44280696)_(44346410_?)del	PREPL, SLC3A1	Deletion	Myasthenic syndrome, congenital, 22 +1 more	GPathogenic/Likely pathogenic
Select item 584389	NC_000002.12:g.(?_44280716)_(44346390_?)del	PREPL, SLC3A1	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 58366	GRCh38/hg38 2p21(chr2:44286091-44372899)x1	CAMKMT, LOC126806204 +2 more	Copy number loss	See cases	GUncertain significance
Select item 145998	GRCh38/hg38 2p21(chr2:44303991-44325759)x1	PREPL, SLC3A1	Copy number loss	See cases	GPathogenic
Select item 1064457	NM_000341.4(SLC3A1):c.1370dup (p.Leu457fs)	PREPL, SLC3A1 (L457fs)	Duplication (frameshift variant)	Cystinuria	GPathogenic
Select item 1291996	NM_000341.4(SLC3A1):c.1618-207A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228567	NM_000341.4(SLC3A1):c.1618-196A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242368	NM_000341.4(SLC3A1):c.1618-102G>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2041653	NM_000341.4(SLC3A1):c.1618-16T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GLikely benign
Select item 2052092	NM_000341.4(SLC3A1):c.1618-11T>A	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GBenign
Select item 2915329	NM_000341.4(SLC3A1):c.1618-5A>T	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GLikely benign
Select item 336208	NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn)	PREPL, SLC3A1 (K542N)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734176	NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)	PREPL, SLC3A1 (S547*)	Single nucleotide variant (nonsense +1 more)	Cystinuria	GPathogenic
Select item 804198	NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)	PREPL, SLC3A1 (S547L)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 747033	NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 2709497	NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 1687510	NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)	PREPL, SLC3A1 (Q553E)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734177	NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)	PREPL, SLC3A1 (E562Q)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1071553	NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)	PREPL, SLC3A1 (R567fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 711667	NM_000341.4(SLC3A1):c.1701G>A (p.Arg567=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 562305	NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)	PREPL, SLC3A1 (R567S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734178	NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)	PREPL, SLC3A1 (G568S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 336209	NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)	SLC3A1, PREPL	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 336210	NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly)	SLC3A1, PREPL (V581G)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 644169	NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)	PREPL, SLC3A1 (Y582H)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GLikely pathogenic
Select item 953279	NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs)	PREPL, SLC3A1 (E585fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 375410	NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)	PREPL, SLC3A1 (R584fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic/Likely pathogenic
Select item 2904920	NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 336211	NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 1041951	NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)	PREPL, SLC3A1 (D590N)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2446006	NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)	PREPL, SLC3A1 (R591fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
Select item 1001980	NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)	PREPL, SLC3A1 (F599S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1344665	NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)	PREPL, SLC3A1 (G600E)	Single nucleotide variant (missense variant +1 more)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 791071	NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 336212	NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GUncertain significance
Select item 2734179	NM_000341.4(SLC3A1):c.1812_1813del (p.Leu605fs)	PREPL, SLC3A1 (L605fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 2444102	NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)	PREPL, SLC3A1 (L607fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
Select item 1026394	NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)	PREPL, SLC3A1 (N609del)	Microsatellite (inframe_deletion +1 more)	Cystinuria	GUncertain significance
Select item 897602	NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	PREPL, SLC3A1 (N609S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 1105751	NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)	SLC3A1, PREPL	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 897603	NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile)	PREPL, SLC3A1 (L614I)	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GUncertain significance
Select item 18120	NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)	SLC3A1, PREPL (P615T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1050380	NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)	PREPL, SLC3A1 (A616T)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 336213	NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del)	PREPL, SLC3A1	Deletion (inframe_deletion +1 more)	Cystinuria	GUncertain significance
Select item 336214	NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)	PREPL, SLC3A1 (M618I)	Single nucleotide variant (missense variant +1 more)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 1524575	NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)	PREPL, SLC3A1 (T624A)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 745966	NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2186472	NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)	PREPL, SLC3A1 (D628N)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 730199	NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)	PREPL, SLC3A1 (G630D)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 1485650	NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)	PREPL, SLC3A1 (D641Y)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 897604	NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala)	PREPL, SLC3A1 (G645A)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734180	NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)	PREPL, SLC3A1 (E649K)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1923060	NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)	PREPL, SLC3A1 (T652A)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 18119	NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)	PREPL, SLC3A1 (T652R)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GPathogenic
Select item 336215	NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)	PREPL, SLC3A1 (R658H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1936625	NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 2734181	NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)	PREPL, SLC3A1 (Q659*)	Single nucleotide variant (nonsense +1 more)	Cystinuria	GPathogenic
Select item 1345653	NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)	PREPL, SLC3A1 (D664G)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 3048747	NM_000341.4(SLC3A1):c.2007C>T (p.Ser669=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	SLC3A1-related disorder	GLikely benign
Select item 804177	NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)	SLC3A1, PREPL (R671*)	Single nucleotide variant (nonsense +1 more)	Cystinuria	GPathogenic
Select item 642723	NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)	PREPL, SLC3A1 (Y674fs)	Duplication (frameshift variant +1 more)	Cystinuria	GPathogenic/Likely pathogenic
Select item 2744823	NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)	SLC3A1, PREPL	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 2197935	NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)	PREPL, SLC3A1 (S676N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 18117	NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)	PREPL, SLC3A1 (L678P)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GPathogenic
Select item 2156874	NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)	PREPL, SLC3A1 (C685Y)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 336216	NM_000341.4(SLC3A1):c.*100T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 898761	NM_000341.4(SLC3A1):c.*109A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 336217	NM_000341.4(SLC3A1):c.*131T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 898762	NM_000341.4(SLC3A1):c.*156T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 583811	NC_000002.12:g.(?_44321336)_(44346410_?)del	PREPL, SLC3A1	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 478305	NC_000002.12:g.(?_44321336)_(44359735_?)del	PREPL, SLC3A1	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2793680	NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 976545	NM_001171613.2(PREPL):c.1906C>T (p.Leu636=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 846707	NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter)	PREPL, SLC3A1 (Y724* +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 843050	NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys)	PREPL, SLC3A1 (E719K +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1582351	NM_001171613.2(PREPL):c.1887C>T (p.Phe629=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1398355	NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe)	PREPL, SLC3A1 (V651F +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1418801	NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg)	PREPL, SLC3A1 (S627R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1101006	NM_001171613.2(PREPL):c.1872C>T (p.Asp624=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1447272	NM_001171613.2(PREPL):c.1870G>C (p.Asp624His)	PREPL, SLC3A1 (D624H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1467997	NM_001171613.2(PREPL):c.1868T>A (p.Leu623His)	PREPL, SLC3A1 (L623H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2867289	NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 436413	NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys)	PREPL, SLC3A1 (E708K +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 744990	NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 757451	NM_001171613.2(PREPL):c.1851G>C (p.Leu617=)	SLC3A1, PREPL	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 575325	NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro)	PREPL, SLC3A1 (L706P +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1010015	NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val)	PREPL, SLC3A1 (L617V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 1110786	NM_001171613.2(PREPL):c.1848C>T (p.Phe616=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 861847	NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg)	PREPL, SLC3A1 (K642R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +2 more	GUncertain significance
Select item 1925357	NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1481123	NM_001171613.2(PREPL):c.1839A>T (p.Gln613His)	PREPL, SLC3A1 (Q636H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 947865	NM_001171613.2(PREPL):c.1839A>C (p.Gln613His)	PREPL, SLC3A1 (Q640H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 570518	NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe)	PREPL, SLC3A1 (I699F +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance

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