ClinVar for Gene (Select 55180) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377645	NM_001040616.3(LINS1):c.1665dup (p.Ile556fs)	LINS1 (I307fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 3365069	NM_001040616.3(LINS1):c.1351G>A (p.Glu451Lys)	LINS1 (E202K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359772	NM_001040616.3(LINS1):c.1861C>T (p.Arg621Trp)	LINS1 (R372W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343746	NM_001040616.3(LINS1):c.79G>A (p.Asp27Asn)	LINS1 (D27N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3338206	NM_001040616.3(LINS1):c.1116del (p.Glu372fs)	LINS1 (E123fs +2 more)	Deletion (frameshift variant +1 more)	Autism	GPathogenic
Select item 3257737	NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer)	LINS1	Deletion (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
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 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3050210	NM_001040616.3(LINS1):c.1488G>A (p.Leu496=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	LINS1-related disorder	GLikely benign
Select item 3044545	NM_001040616.3(LINS1):c.1394+9A>T	LINS1	Single nucleotide variant (intron variant)	LINS1-related disorder	GLikely benign
Select item 3026395	NM_001040616.3(LINS1):c.837A>G (p.Lys279=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026335	NM_001040616.3(LINS1):c.1368A>G (p.Ser456=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2682503	NM_001040616.3(LINS1):c.631+1G>A	LINS1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
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 2645747	NM_001040616.3(LINS1):c.1222+21del	LINS1	Deletion (intron variant)	not provided	GLikely benign
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 2581772	NM_001040616.3(LINS1):c.274C>T (p.Gln92Ter)	LINS1 (Q92*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2572295	NM_001040616.3(LINS1):c.281C>T (p.Thr94Ile)	LINS1 (T94I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2572261	NM_001040616.3(LINS1):c.1186_1187delinsCC (p.Lys396Pro)	LINS1 (K147P +2 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2441184	NM_001040616.3(LINS1):c.1222+2T>C	LINS1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
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 2433458	NM_001040616.3(LINS1):c.332A>C (p.His111Pro)	LINS1 (H111P)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 2433457	NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)	LINS1 (I173V +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
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 2410470	NM_001040616.3(LINS1):c.1301C>T (p.Pro434Leu)	LINS1 (P185L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2397828	NM_001040616.3(LINS1):c.632A>G (p.Glu211Gly)	LINS1 (E196G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324478	NM_001040616.3(LINS1):c.1064T>G (p.Val355Gly)	LINS1 (V106G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293339	NM_001040616.3(LINS1):c.550A>C (p.Ser184Arg)	LINS1 (S184R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2250462	NM_001040616.3(LINS1):c.917G>T (p.Cys306Phe)	LINS1 (C306F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241079	NM_001040616.3(LINS1):c.271C>T (p.Leu91Phe)	LINS1 (L91F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809169	GRCh37/hg19 15q26.3(chr15:100921195-101144913)x3	ASB7, CERS3 +1 more	Copy number gain	not provided	GUncertain significance
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 1800411	NM_001040616.3(LINS1):c.1353G>C (p.Glu451Asp)	LINS1 (E202D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800405	NM_001040616.3(LINS1):c.-5T>A	LINS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800396	NM_001040616.3(LINS1):c.1296C>T (p.His432=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1800392	NM_001040616.3(LINS1):c.1173A>C (p.Lys391Asn)	LINS1 (K142N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800385	NM_001040616.3(LINS1):c.194G>A (p.Gly65Asp)	LINS1 (G65D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1800369	NM_001040616.3(LINS1):c.1505T>C (p.Ile502Thr)	LINS1 (I253T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 1800362	NM_001040616.3(LINS1):c.399+4A>G	LINS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1800317	NM_001040616.3(LINS1):c.1133A>G (p.Asp378Gly)	LINS1 (D129G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800311	NM_001040616.3(LINS1):c.1007C>G (p.Ala336Gly)	LINS1 (A321G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800271	NM_001040616.3(LINS1):c.975G>A (p.Pro325=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1800265	NM_001040616.3(LINS1):c.228G>A (p.Leu76=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1800259	NM_001040616.3(LINS1):c.781G>A (p.Ala261Thr)	LINS1 (A12T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800251	NM_001040616.3(LINS1):c.651G>C (p.Leu217=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
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 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 1799669	NM_001040616.3(LINS1):c.205A>G (p.Ile69Val)	LINS1 (I69V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1799651	NM_001040616.3(LINS1):c.392C>G (p.Ser131Cys)	LINS1 (S131C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1799647	NM_001040616.3(LINS1):c.1491CTT[1] (p.Phe498del)	LINS1 (F249del +2 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
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 1799620	NM_001040616.3(LINS1):c.172A>G (p.Arg58Gly)	LINS1 (R58G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1799610	NM_001040616.3(LINS1):c.1007C>T (p.Ala336Val)	LINS1 (A321V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799609	NM_001040616.3(LINS1):c.607A>G (p.Lys203Glu)	LINS1 (K188E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 1799598	NM_001040616.3(LINS1):c.525G>T (p.Gln175His)	LINS1 (Q160H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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
Select item 1704395	NM_001040616.3(LINS1):c.361A>C (p.Lys121Gln)	LINS1 (K121Q)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 27	GLikely benign
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 1679222	NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)	LINS1 (E229* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526470	GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)	ADAMTS17, ARRDC4 +13 more	Copy number loss	not specified	GPathogenic
Select item 1448913	NC_000015.9:g.(?_98947180)_(101791661_?)dup	ADAMTS17, ALDH1A3 +12 more	Duplication	not provided	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 1333602	NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)	LINS1 (Q226fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1315111	NM_001040616.3(LINS1):c.154dup (p.Thr52fs)	LINS1 (T52fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1298641	NM_001040616.3(LINS1):c.735_758del (p.Ile245_Leu253delinsMet)	LINS1	Deletion (inframe_indel +3 more)	not provided	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 1289224	NM_001040616.3(LINS1):c.490-249C>G	LINS1	Single nucleotide variant (intron variant)	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 1282208	NM_001040616.3(LINS1):c.631+33A>G	LINS1	Single nucleotide variant (intron variant)	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 1280330	NM_001040616.3(LINS1):c.1395-243G>A	LINS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279085	NM_001040616.3(LINS1):c.1395-52_1395-51del	LINS1	Deletion (intron variant)	not provided	GBenign
Select item 1278931	NM_001040616.3(LINS1):c.632-194A>G	LINS1	Single nucleotide variant (intron variant)	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 1264154	NM_001040616.3(LINS1):c.490-115G>T	LINS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263581	NM_001040616.3(LINS1):c.1222+336del	LINS1	Deletion (intron variant)	not provided	GBenign
Select item 1259847	NM_001040616.3(LINS1):c.1395-321G>A	LINS1	Single nucleotide variant (intron variant)	not provided	GBenign

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