LINS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 58224	GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1	ADAMTS17, ASB7 +28 more	Copy number loss	See cases	GUncertain significance
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 58385	GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 147911	GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3	ALDH1A3, ALDH1A3-AS1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 58225	GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1	LRRK1, ALDH1A3 +32 more	Copy number loss	See cases	GUncertain significance
Select item 148565	GRCh38/hg38 15q26.3(chr15:100472094-101062436)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 58386	GRCh38/hg38 15q26.3(chr15:100502358-101087274)x3	ALDH1A3, ALDH1A3-AS1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 150646	GRCh38/hg38 15q26.3(chr15:100515544-101045707)x3	ALDH1A3, ALDH1A3-AS1 +31 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 1220592	NM_001040616.3(LINS1):c.*317A>G	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236013	NM_001040616.3(LINS1):c.*221C>A	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283347	NM_001040616.3(LINS1):c.*216T>C	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1181619	NM_001040616.3(LINS1):c.*200A>G	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1267299	NM_001040616.3(LINS1):c.*189T>C	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281579	NM_001040616.3(LINS1):c.*167A>G	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281296	NM_001040616.3(LINS1):c.114_115dup	LINS1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1248118	NM_001040616.3(LINS1):c.*115dup	LINS1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236361	NM_001040616.3(LINS1):c.112_115del	LINS1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1247599	NM_001040616.3(LINS1):c.*85T>C	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1256652	NM_001040616.3(LINS1):c.*51G>A	LINS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 915272	NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)	LINS1 (L508* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 129485	NM_001040616.3(LINS1):c.2236A>G (p.Ile746Val)	LINS1 (I746V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708962	NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)	LINS1 (L494del +2 more)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 3065021	NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter)	LINS1 (K480* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1800365	NM_001040616.3(LINS1):c.2183A>G (p.Lys728Arg)	LINS1 (K479R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799603	NM_001040616.3(LINS1):c.2178G>A (p.Leu726=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799900	NM_001040616.3(LINS1):c.2173C>T (p.Arg725Cys)	LINS1 (R476C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799590	NM_001040616.3(LINS1):c.2163T>C (p.Asp721=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799593	NM_001040616.3(LINS1):c.2121A>T (p.Gly707=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 129484	NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg)	LINS1 (G707R +2 more)	Single nucleotide variant (missense variant +1 more)	LINS1-related disorder +3 more	GBenign/Likely benign
Select item 588972	NM_001040616.3(LINS1):c.2107G>A (p.Val703Ile)	LINS1 (V703I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 740497	NM_001040616.3(LINS1):c.2097A>G (p.Pro699=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2433459	NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)	LINS1 (V448G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1799599	NM_001040616.3(LINS1):c.2080G>T (p.Asp694Tyr)	LINS1 (D445Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587793	NM_001040616.3(LINS1):c.2040G>T (p.Arg680Ser)	LINS1 (R680S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GBenign
Select item 587829	NM_001040616.3(LINS1):c.2034A>G (p.Pro678=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1030057	NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser)	LINS1 (P627S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 589536	NM_001040616.3(LINS1):c.2027A>G (p.Glu676Gly)	LINS1 (E676G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 985554	NM_001040616.3(LINS1):c.2020dup (p.Ser674fs)	LINS1 (S425fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1800163	NM_001040616.3(LINS1):c.2008A>G (p.Lys670Glu)	LINS1 (K421E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031762	NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser)	LINS1 (R617S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 588781	NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)	LINS1 (G665R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 588691	NM_001040616.3(LINS1):c.1981C>G (p.Gln661Glu)	LINS1 (Q661E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520598	NM_001040616.3(LINS1):c.1940G>A (p.Ser647Asn)	LINS1 (S647N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2431402	NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)	LINS1 (E392fs +2 more)	Indel (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 587795	NM_001040616.3(LINS1):c.1923G>C (p.Glu641Asp)	LINS1 (E641D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 211383	NM_001040616.3(LINS1):c.1912G>A (p.Glu638Lys)	LINS1 (E638K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341842	NM_001040616.3(LINS1):c.1909G>A (p.Val637Met)	LINS1 (V388M +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 435756	NM_001040616.3(LINS1):c.1908C>T (p.Asp636=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 587792	NM_001040616.3(LINS1):c.1899C>T (p.Asp633=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 589353	NM_001040616.3(LINS1):c.1888G>A (p.Asp630Asn)	LINS1 (D630N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 435757	NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2663115	NM_001040616.3(LINS1):c.1873dup (p.Ser625fs)	LINS1 (S376fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 435758	NM_001040616.3(LINS1):c.1851G>T (p.Leu617=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1031761	NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly)	LINS1 (A360G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 587794	NM_001040616.3(LINS1):c.1824G>T (p.Gly608=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 1805586	NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)	LINS1 (M356I +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 211382	NM_001040616.3(LINS1):c.1813A>G (p.Met605Val)	LINS1 (M605V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 499706	NM_001040616.3(LINS1):c.1780dup (p.Ser594fs)	LINS1 (S543fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1800367	NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs)	LINS1 (D336fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1684037	NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)	LINS1 (R327fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1799607	NM_001040616.3(LINS1):c.1668T>C (p.Ile556=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799621	NM_001040616.3(LINS1):c.1660A>G (p.Ile554Val)	LINS1 (I305V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645746	NM_001040616.3(LINS1):c.1659C>T (p.Asp553=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 211381	NM_001040616.3(LINS1):c.1632C>T (p.Asn544=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 587885	NM_001040616.3(LINS1):c.1621A>G (p.Ile541Val)	LINS1 (I541V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 2683927	NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)	LINS1 (W286* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1799592	NM_001040616.3(LINS1):c.1568A>G (p.Tyr523Cys)	LINS1 (Y274C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799604	NM_001040616.3(LINS1):c.1534T>A (p.Phe512Ile)	LINS1 (F263I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1298640	NM_001040616.3(LINS1):c.1525CTT[1] (p.Leu510del)	LINS1 (L261del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1706445	NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)	LINS1 (L261P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance

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