"GeneDx"[submitter] AND "LINS1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 58225	GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1	LRRK1, ALDH1A3 +32 more	Copy number loss	See cases	GUncertain significance
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 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 587795	NM_001040616.3(LINS1):c.1923G>C (p.Glu641Asp)	LINS1 (E641D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 2663115	NM_001040616.3(LINS1):c.1873dup (p.Ser625fs)	LINS1 (S376fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
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 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 587791	NM_001040616.3(LINS1):c.1452A>T (p.Thr484=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 587799	NM_001040616.3(LINS1):c.1415G>C (p.Ser472Thr)	LINS1 (S472T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 1235573	NM_001040616.3(LINS1):c.1395-34A>G	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 1280330	NM_001040616.3(LINS1):c.1395-243G>A	LINS1	Single nucleotide variant (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
Select item 1241967	NM_001040616.3(LINS1):c.1394+167T>C	LINS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214928	NM_001040616.3(LINS1):c.1276C>T (p.Gln426Ter)	LINS1 (Q177* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1239001	NM_001040616.3(LINS1):c.1223-72A>G	LINS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1263581	NM_001040616.3(LINS1):c.1222+336del	LINS1	Deletion (intron variant)	not provided	GBenign
Select item 1245641	NM_001040616.3(LINS1):c.1222+142dup	LINS1	Duplication (intron variant)	not provided	GBenign
Select item 1236213	NM_001040616.3(LINS1):c.1222+108G>A	LINS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280510	NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)	LINS1 (L393* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27 +1 more	GPathogenic/Likely pathogenic
Select item 587782	NM_001040616.3(LINS1):c.1128T>C (p.Ser376=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 429992	NM_001040616.3(LINS1):c.1096G>T (p.Glu366Ter)	LINS1 (E366* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 817855	NM_001040616.3(LINS1):c.809del (p.Phe270fs)	LINS1 (F255fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 587790	NM_001040616.3(LINS1):c.660C>T (p.Phe220=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1221018	NM_001040616.3(LINS1):c.632-38_632-37del	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 1282208	NM_001040616.3(LINS1):c.631+33A>G	LINS1	Single nucleotide variant (intron variant)	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 1289224	NM_001040616.3(LINS1):c.490-249C>G	LINS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445417	NM_001040616.3(LINS1):c.431del (p.Leu144fs)	LINS1 (L129fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal recessive 27 +2 more	GConflicting classifications of pathogenicity
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 2581772	NM_001040616.3(LINS1):c.274C>T (p.Gln92Ter)	LINS1 (Q92*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 504353	NM_001040616.3(LINS1):c.244_248del (p.Met82fs)	LINS1 (M82fs)	Deletion (frameshift variant +2 more)	not provided	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 587785	NM_001040616.3(LINS1):c.85A>G (p.Ile29Val)	LINS1 (I29V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253543	GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	IGF1R, PCSK6 +19 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 54