SCLT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 154730	GRCh38/hg38 4q28.2(chr4:128270464-129216993)x3	C4orf33, JADE1 +39 more	Copy number gain	See cases	GLikely benign
Select item 150033	GRCh38/hg38 4q28.2-28.3(chr4:128819739-131409625)x1	C4orf33, JADE1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 156933	NC_000004.12:g.128853220_129006649dup	LOC129993079, LOC129993080 +3 more	Duplication	Small for gestational age	Gnot provided
Select item 144870	GRCh38/hg38 4q28.2(chr4:128856871-128983901)x3	JADE1, LOC129993079 +3 more	Copy number gain	See cases	GBenign/Likely benign
Select item 147270	GRCh38/hg38 4q28.2(chr4:128864528-128936837)x3	JADE1, LOC129993080 +2 more	Copy number gain	See cases	GBenign
Select item 148027	GRCh38/hg38 4q28.2(chr4:128877983-129510533)x1	C4orf33, LOC129993080 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1377652	NM_144643.4(SCLT1):c.2066A>T (p.Ter689Leu)	SCLT1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1460719	NM_144643.4(SCLT1):c.2065T>C (p.Ter689Gln)	SCLT1	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 1804041	NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)	SCLT1 (N687fs)	Duplication (frameshift variant)	Astigmatism +5 more	GLikely pathogenic
Select item 1127661	NM_144643.4(SCLT1):c.2046G>T (p.Leu682=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972754	NM_144643.4(SCLT1):c.2026A>C (p.Arg676=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003944	NM_144643.4(SCLT1):c.2005-17_2005-14del	SCLT1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1529222	NM_144643.4(SCLT1):c.2004+15C>T	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132417	NM_144643.4(SCLT1):c.1994C>T (p.Ala665Val)	SCLT1 (A665V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714639	NM_144643.4(SCLT1):c.1987G>T (p.Ala663Ser)	SCLT1 (A663S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1089562	NM_144643.4(SCLT1):c.1977A>G (p.Glu659=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347359	NM_144643.4(SCLT1):c.1975G>A (p.Glu659Lys)	SCLT1 (E659K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530135	NM_144643.4(SCLT1):c.1965A>G (p.Leu655=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713280	NM_144643.4(SCLT1):c.1964T>C (p.Leu655Pro)	SCLT1 (L655P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466506	NM_144643.4(SCLT1):c.1961G>A (p.Arg654His)	SCLT1 (R654H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190679	NM_144643.4(SCLT1):c.1960C>T (p.Arg654Cys)	SCLT1 (R654C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571741	NM_144643.4(SCLT1):c.1956A>G (p.Gln652=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346217	NM_144643.4(SCLT1):c.1951C>T (p.Leu651Phe)	SCLT1 (L651F)	Single nucleotide variant (missense variant)	SCLT1-related disorder	GUncertain significance
Select item 2040486	NM_144643.4(SCLT1):c.1944C>G (p.Ala648=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970213	NM_144643.4(SCLT1):c.1935A>G (p.Gln645=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502936	NM_144643.4(SCLT1):c.1933C>G (p.Gln645Glu)	SCLT1 (Q645E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1573456	NM_144643.4(SCLT1):c.1926A>G (p.Leu642=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895009	NM_144643.4(SCLT1):c.1912G>T (p.Glu638Ter)	SCLT1 (E638*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1606970	NM_144643.4(SCLT1):c.1909-6T>G	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008072	NM_144643.4(SCLT1):c.1909-9C>T	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135536	NM_144643.4(SCLT1):c.1908+6A>T	SCLT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2861282	NM_144643.4(SCLT1):c.1902A>G (p.Val634=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468001	NM_144643.4(SCLT1):c.1898A>T (p.Lys633Met)	SCLT1 (K633M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603592	NM_144643.4(SCLT1):c.1893T>C (p.Asn631=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435655	NM_144643.4(SCLT1):c.1888G>A (p.Ala630Thr)	SCLT1 (A630T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344711	NM_144643.4(SCLT1):c.1887G>A (p.Met629Ile)	SCLT1 (M629I)	Single nucleotide variant (missense variant)	SCLT1-related disorder	GUncertain significance
Select item 1363579	NM_144643.4(SCLT1):c.1884A>T (p.Glu628Asp)	SCLT1 (E628D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950972	NM_144643.4(SCLT1):c.1876C>T (p.Gln626Ter)	SCLT1 (Q626*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2086196	NM_144643.4(SCLT1):c.1873T>C (p.Ser625Pro)	SCLT1 (S625P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106709	NM_144643.4(SCLT1):c.1859C>A (p.Thr620Asn)	SCLT1 (T620N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372346	NM_144643.4(SCLT1):c.1844G>A (p.Arg615Gln)	SCLT1 (R615Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355747	NM_144643.4(SCLT1):c.1843C>T (p.Arg615Ter)	SCLT1 (R615*)	Single nucleotide variant (nonsense)	SCLT1-related disorder	GUncertain significance
Select item 1377302	NM_144643.4(SCLT1):c.1843C>G (p.Arg615Gly)	SCLT1 (R615G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655096	NM_144643.4(SCLT1):c.1836G>A (p.Glu612=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990707	NM_144643.4(SCLT1):c.1830-2A>G	SCLT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 713147	NM_144643.4(SCLT1):c.1830-5A>G	SCLT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1910851	NM_144643.4(SCLT1):c.1830-15dup	SCLT1	Duplication (intron variant)	not provided	GBenign
Select item 2808902	NM_144643.4(SCLT1):c.1830-20T>G	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3345451	NM_144643.4(SCLT1):c.1829+3A>G	SCLT1	Single nucleotide variant (intron variant)	SCLT1-related disorder	GLikely benign
Select item 1970731	NM_144643.4(SCLT1):c.1822A>T (p.Asn608Tyr)	SCLT1 (N608Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925853	NM_144643.4(SCLT1):c.1820A>G (p.Asn607Ser)	SCLT1 (N607S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490340	NM_144643.4(SCLT1):c.1818C>G (p.Ile606Met)	SCLT1 (I606M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020875	NM_144643.4(SCLT1):c.1815A>G (p.Arg605=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403615	NM_144643.4(SCLT1):c.1810A>G (p.Ile604Val)	SCLT1 (I604V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933386	NM_144643.4(SCLT1):c.1800A>G (p.Glu600=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672977	NM_144643.4(SCLT1):c.1785G>A (p.Thr595=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470612	NM_144643.4(SCLT1):c.1784C>T (p.Thr595Met)	SCLT1 (T595M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082979	NM_144643.4(SCLT1):c.1783A>T (p.Thr595Ser)	SCLT1 (T595S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1400301	NM_144643.4(SCLT1):c.1770G>C (p.Arg590Ser)	SCLT1 (R590S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382365	NM_144643.4(SCLT1):c.1757A>G (p.Lys586Arg)	SCLT1 (K586R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455584	NM_144643.4(SCLT1):c.1753_1754del (p.Gln585fs)	SCLT1 (Q585fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 763911	NM_144643.4(SCLT1):c.1752A>G (p.Gln584=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731593	NM_144643.4(SCLT1):c.1746G>A (p.Ala582=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3355716	NM_144643.4(SCLT1):c.1745C>T (p.Ala582Val)	SCLT1 (A582V)	Single nucleotide variant (3 prime UTR variant +1 more)	SCLT1-related disorder	GUncertain significance
Select item 2035417	NM_144643.4(SCLT1):c.1734G>A (p.Arg578=)	SCLT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1165524	NM_144643.4(SCLT1):c.1704C>T (p.Asp568=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1998895	NM_144643.4(SCLT1):c.1702G>T (p.Asp568Tyr)	SCLT1 (D568Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993335	NM_144643.4(SCLT1):c.1701A>G (p.Glu567=)	SCLT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1388044	NM_144643.4(SCLT1):c.1698G>T (p.Met566Ile)	SCLT1 (M566I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007640	NM_144643.4(SCLT1):c.1695G>A (p.Glu565=)	SCLT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3003460	NM_144643.4(SCLT1):c.1687T>C (p.Leu563=)	SCLT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1916716	NM_144643.4(SCLT1):c.1686A>G (p.Gln562=)	SCLT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2749755	NM_144643.4(SCLT1):c.1684C>T (p.Gln562Ter)	SCLT1 (Q562*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2172501	NM_144643.4(SCLT1):c.1684C>A (p.Gln562Lys)	SCLT1 (Q562K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556938	NM_144643.4(SCLT1):c.1680A>G (p.Glu560=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511407	NM_144643.4(SCLT1):c.1673G>A (p.Gly558Glu)	SCLT1 (G558E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2476954	NM_144643.4(SCLT1):c.1672G>A (p.Gly558Arg)	SCLT1 (G558R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1036261	NM_144643.4(SCLT1):c.1670G>A (p.Arg557His)	SCLT1 (R557H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964623	NM_144643.4(SCLT1):c.1669C>T (p.Arg557Cys)	SCLT1 (R557C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2553718	NM_144643.4(SCLT1):c.1666G>A (p.Glu556Lys)	SCLT1 (E556K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2105473	NM_144643.4(SCLT1):c.1661T>A (p.Ile554Lys)	SCLT1 (I554K)	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2087261	NM_144643.4(SCLT1):c.1660A>G (p.Ile554Val)	SCLT1 (I554V)	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1445777	NM_144643.4(SCLT1):c.1657T>C (p.Ser553Pro)	SCLT1 (S553P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017003	NM_144643.4(SCLT1):c.1637G>A (p.Ser546Asn)	SCLT1 (S546N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567325	NM_144643.4(SCLT1):c.1633-15del	SCLT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1959555	NM_144643.4(SCLT1):c.1633-20G>T	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671727	NM_144643.4(SCLT1):c.1633-20G>A	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009941	NM_144643.4(SCLT1):c.1632+19T>A	SCLT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645352	NM_144643.4(SCLT1):c.1632+17_1632+18del	SCLT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3346786	NM_144643.4(SCLT1):c.1632+8C>T	SCLT1	Single nucleotide variant (intron variant)	SCLT1-related disorder	GLikely benign
Select item 1502747	NM_144643.4(SCLT1):c.1626A>C (p.Lys542Asn)	SCLT1 (K542N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359248	NM_144643.4(SCLT1):c.1620dup (p.Ala541fs)	SCLT1 (A541fs)	Duplication (frameshift variant)	not provided	GPathogenic

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