"Ambry Genetics"[submitter] AND "LINS1"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not provided +2 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 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)	not provided +1 more	GBenign
Select item 587829	NM_001040616.3(LINS1):c.2034A>G (p.Pro678=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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)	not provided +1 more	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 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 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 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)	not provided +2 more	GBenign/Likely benign
Select item 435758	NM_001040616.3(LINS1):c.1851G>T (p.Leu617=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
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 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 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 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 587885	NM_001040616.3(LINS1):c.1621A>G (p.Ile541Val)	LINS1 (I541V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 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 1028987	NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr)	LINS1 (I443T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27 +2 more	GUncertain significance
Select item 435759	NM_001040616.3(LINS1):c.1479T>C (p.Cys493=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 587791	NM_001040616.3(LINS1):c.1452A>T (p.Thr484=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not provided +1 more	GBenign
Select item 211380	NM_001040616.3(LINS1):c.1394+4A>G	LINS1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 225032	NM_001040616.3(LINS1):c.1394+1G>T	LINS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
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 211379	NM_001040616.3(LINS1):c.1347G>A (p.Met449Ile)	LINS1 (M449I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 588657	NM_001040616.3(LINS1):c.1320G>A (p.Arg440=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 587891	NM_001040616.3(LINS1):c.1302G>A (p.Pro434=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
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 493165	NM_001040616.3(LINS1):c.1298A>G (p.Asn433Ser)	LINS1 (N433S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 589122	NM_001040616.3(LINS1):c.1285C>T (p.Leu429=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 588423	NM_001040616.3(LINS1):c.1222G>A (p.Val408Ile)	LINS1 (V408I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 211378	NM_001040616.3(LINS1):c.1194A>G (p.Gln398=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely 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 588805	NM_001040616.3(LINS1):c.1169T>C (p.Met390Thr)	LINS1 (M390T +2 more)	Single nucleotide variant (missense variant +1 more)	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 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 129483	NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile)	LINS1 (T375I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 589349	NM_001040616.3(LINS1):c.1121T>C (p.Ile374Thr)	LINS1 (I374T +2 more)	Single nucleotide variant (missense variant +1 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 1031758	NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val)	LINS1 (A338V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 589373	NM_001040616.3(LINS1):c.993G>A (p.Ala331=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588321	NM_001040616.3(LINS1):c.992C>T (p.Ala331Val)	LINS1 (A331V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 747496	NM_001040616.3(LINS1):c.987T>C (p.His329=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 211386	NM_001040616.3(LINS1):c.864C>T (p.Thr288=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 589437	NM_001040616.3(LINS1):c.842C>G (p.Ser281Cys)	LINS1 (S281C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589170	NM_001040616.3(LINS1):c.807T>C (p.His269=)	LINS1	Single nucleotide variant (synonymous variant +1 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 589392	NM_001040616.3(LINS1):c.778A>G (p.Ile260Val)	LINS1 (I260V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 211385	NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp)	LINS1 (R240W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 587881	NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn)	LINS1 (D221N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 588428	NM_001040616.3(LINS1):c.615A>G (p.Ser205=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
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 425080	NM_001040616.3(LINS1):c.554A>G (p.Asn185Ser)	LINS1 (N185S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 757396	NM_001040616.3(LINS1):c.418T>A (p.Ser140Thr)	LINS1 (S125T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1800362	NM_001040616.3(LINS1):c.399+4A>G	LINS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 589351	NM_001040616.3(LINS1):c.312G>A (p.Leu104=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
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 588378	NM_001040616.3(LINS1):c.267G>A (p.Met89Ile)	LINS1 (M89I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 520599	NM_001040616.3(LINS1):c.52G>A (p.Gly18Arg)	LINS1 (G18R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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

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Items: 91