Related gene-specific medical variations for Gene (Select 10319) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245340	NC_000009.11:g.(?_133951198)_(133952741_?)del	LAMC3	Deletion	not provided	GPathogenic
Select item 3245338	NC_000009.11:g.(?_133920891)_(133921067_?)del	LAMC3	Deletion	not provided	GPathogenic
Select item 3245337	NC_000009.11:g.(?_133901652)_(133901996_?)del	LAMC3	Deletion	not provided	GPathogenic
Select item 3064937	NM_006059.4(LAMC3):c.1141C>T (p.Gln381Ter)	LAMC3 (Q381*)	Single nucleotide variant (nonsense)	Occipital pachygyria and polymicrogyria	GLikely pathogenic
Select item 3019010	NM_006059.4(LAMC3):c.1791C>T (p.Ala597=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2991231	NM_006059.4(LAMC3):c.1824-15C>G	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984137	NM_006059.4(LAMC3):c.1823+10C>T	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968508	NM_006059.4(LAMC3):c.1746G>A (p.Leu582=)	LOC126860777, LAMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917004	NM_006059.4(LAMC3):c.1674C>G (p.Leu558=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915722	NM_006059.4(LAMC3):c.1668G>A (p.Gln556=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892608	NM_006059.4(LAMC3):c.1701G>T (p.Gly567=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874861	NM_006059.4(LAMC3):c.1674C>T (p.Leu558=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782791	NM_006059.4(LAMC3):c.1824-17A>G	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2547312	NM_006059.4(LAMC3):c.1723C>A (p.Leu575Met)	LAMC3, LOC126860777 (L575M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491126	NM_006059.4(LAMC3):c.1761G>T (p.Arg587Ser)	LAMC3, LOC126860777 (R587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441103	NM_006059.4(LAMC3):c.63del (p.Met22fs)	LAMC3 (M22fs)	Deletion (frameshift variant)	Occipital pachygyria and polymicrogyria	GLikely pathogenic
Select item 2433396	NM_006059.4(LAMC3):c.4663G>A (p.Ala1555Thr)	LAMC3 (A1555T)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria	GUncertain significance
Select item 2433395	NM_006059.4(LAMC3):c.5C>T (p.Ala2Val)	LAMC3 (A2V)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria	GUncertain significance
Select item 2304033	NM_006059.4(LAMC3):c.1754C>A (p.Ser585Tyr)	LAMC3, LOC126860777 (S585Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242917	NM_006059.4(LAMC3):c.1652G>A (p.Arg551Gln)	LAMC3, LOC126860777 (R551Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229595	NM_006059.4(LAMC3):c.1651C>T (p.Arg551Trp)	LAMC3, LOC126860777 (R551W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2208211	NM_006059.4(LAMC3):c.1648C>T (p.Gln550Ter)	LAMC3, LOC126860777 (Q550*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2185864	NM_006059.4(LAMC3):c.1665G>A (p.Gly555=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137485	NM_006059.4(LAMC3):c.1699G>A (p.Gly567Arg)	LOC126860777, LAMC3 (G567R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2131487	NM_006059.4(LAMC3):c.1711C>A (p.Leu571Ile)	LAMC3, LOC126860777 (L571I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114748	NM_006059.4(LAMC3):c.1706C>T (p.Ser569Phe)	LAMC3, LOC126860777 (S569F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112732	NM_006059.4(LAMC3):c.1815C>T (p.Leu605=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107829	NM_006059.4(LAMC3):c.1730_1762dup (p.Arg587_His588insLeuGluGlyThrGlyLeuAlaLeuSerLeuArg)	LAMC3, LOC126860777	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2088817	NM_006059.4(LAMC3):c.1844A>G (p.Asp615Gly)	LAMC3, LOC126860777 (D615G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086547	NM_006059.4(LAMC3):c.1818G>T (p.Arg606Ser)	LAMC3, LOC126860777 (R606S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084404	NM_006059.4(LAMC3):c.1823+12del	LAMC3, LOC126860777	Deletion (intron variant)	not provided	GBenign
Select item 2061185	NM_006059.4(LAMC3):c.1824-2A>G	LAMC3, LOC126860777	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2045611	NM_006059.4(LAMC3):c.1809A>G (p.Val603=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042359	NM_006059.4(LAMC3):c.1714C>G (p.Pro572Ala)	LAMC3, LOC126860777 (P572A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978370	NM_006059.4(LAMC3):c.1683C>T (p.Thr561=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971715	NM_006059.4(LAMC3):c.1638C>T (p.Phe546=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970136	NM_006059.4(LAMC3):c.1824C>T (p.His608=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1966618	NM_006059.4(LAMC3):c.1824-13C>T	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960495	NM_006059.4(LAMC3):c.1693C>A (p.Pro565Thr)	LAMC3, LOC126860777 (P565T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940222	NM_006059.4(LAMC3):c.1631-8G>A	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938563	NM_006059.4(LAMC3):c.1828C>T (p.Gln610Ter)	LAMC3, LOC126860777 (Q610*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1937689	NM_006059.4(LAMC3):c.1839C>T (p.Ser613=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896827	NM_006059.4(LAMC3):c.1824-15C>T	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895715	NM_006059.4(LAMC3):c.1720C>T (p.Gln574Ter)	LOC126860777, LAMC3 (Q574*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1701691	NM_006059.4(LAMC3):c.1757T>C (p.Leu586Pro)	LAMC3, LOC126860777 (L586P)	Single nucleotide variant (missense variant)	Occipital pachygyria and polymicrogyria	GUncertain significance
Select item 1664999	NM_006059.4(LAMC3):c.1740A>G (p.Thr580=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663734	NM_006059.4(LAMC3):c.1823+15C>A	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653874	NM_006059.4(LAMC3):c.1797T>C (p.His599=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629263	NM_006059.4(LAMC3):c.1631-14_1631-12del	LAMC3, LOC126860777	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1609469	NM_006059.4(LAMC3):c.1698C>T (p.Pro566=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602238	NM_006059.4(LAMC3):c.1823+18del	LAMC3, LOC126860777	Deletion (intron variant)	not provided	GLikely benign
Select item 1601583	NM_006059.4(LAMC3):c.1631-9T>C	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600511	NM_006059.4(LAMC3):c.1752G>C (p.Leu584=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1598670	NM_006059.4(LAMC3):c.1824-14G>A	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1555519	NM_006059.4(LAMC3):c.1749C>T (p.Ala583=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545040	NM_006059.4(LAMC3):c.1824-5G>A	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530791	NM_006059.4(LAMC3):c.1631-10T>C	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529885	NM_006059.4(LAMC3):c.1750C>T (p.Leu584=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512506	NM_006059.4(LAMC3):c.1696C>G (p.Pro566Ala)	LAMC3, LOC126860777 (P566A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486692	NM_006059.4(LAMC3):c.1670C>T (p.Pro557Leu)	LAMC3, LOC126860777 (P557L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475249	NM_006059.4(LAMC3):c.1745T>G (p.Leu582Trp)	LAMC3, LOC126860777 (L582W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471464	NM_006059.4(LAMC3):c.1798C>T (p.Pro600Ser)	LAMC3, LOC126860777 (P600S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461577	NM_006059.4(LAMC3):c.1643G>A (p.Gly548Glu)	LAMC3, LOC126860777 (G548E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452316	NM_006059.4(LAMC3):c.1728del (p.Arg576fs)	LAMC3, LOC126860777 (R576fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1435611	NM_006059.4(LAMC3):c.1818G>C (p.Arg606Ser)	LAMC3, LOC126860777 (R606S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421192	NM_006059.4(LAMC3):c.1698dup (p.Gly567fs)	LAMC3, LOC126860777 (G567fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1410949	NM_006059.4(LAMC3):c.1840G>A (p.Glu614Lys)	LAMC3, LOC126860777 (E614K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407613	NM_006059.4(LAMC3):c.1702G>A (p.Asp568Asn)	LAMC3, LOC126860777 (D568N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384138	NM_006059.4(LAMC3):c.1824-7T>A	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1383676	NM_006059.4(LAMC3):c.1760G>A (p.Arg587Lys)	LAMC3, LOC126860777 (R587K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375100	NM_006059.4(LAMC3):c.1631-8_1631-4del	LAMC3, LOC126860777	Deletion (intron variant)	not provided	GUncertain significance
Select item 1355974	NM_006059.4(LAMC3):c.1762C>T (p.His588Tyr)	LAMC3, LOC126860777 (H588Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324653	NM_006059.4(LAMC3):c.2479_2480del (p.Leu827fs)	LAMC3 (L827fs)	Deletion (frameshift variant)	Occipital pachygyria and polymicrogyria	GLikely pathogenic
Select item 1294933	NM_006059.4(LAMC3):c.1824-60C>G	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267513	NM_006059.4(LAMC3):c.1823+18T>C	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243525	NM_006059.4(LAMC3):c.1823+36T>G	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205510	NM_006059.4(LAMC3):c.1631-76C>T	LAMC3, LOC126860777	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 975584	NM_006059.4(LAMC3):c.904G>A (p.Glu302Lys)	LAMC3 (E302K)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975430	NM_006059.4(LAMC3):c.842G>A (p.Gly281Asp)	LAMC3 (G281D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 872612	NM_006059.4(LAMC3):c.1688G>A (p.Arg563Gln)	LAMC3, LOC126860777 (R563Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 815300	GRCh37/hg19 9q34.12(chr9:133927039-133957759)x1	LAMC3	Copy number loss	not provided	GUncertain significance
Select item 784155	NM_006059.4(LAMC3):c.1687C>T (p.Arg563Trp)	LAMC3, LOC126860777 (R563W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725744	NM_006059.4(LAMC3):c.1675A>G (p.Ile559Val)	LAMC3, LOC126860777 (I559V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723524	NM_006059.4(LAMC3):c.1662T>C (p.Tyr554=)	LAMC3, LOC126860777	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435735	NM_006059.4(LAMC3):c.1696C>T (p.Pro566Ser)	LAMC3, LOC126860777 (P566S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129453	NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg)	LAMC3, LOC126860777 (G598R)	Single nucleotide variant (missense variant)	LAMC3-related disorder +2 more	GBenign/Likely benign
Select item 129452	NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly)	LAMC3, LOC126860777 (E544G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 87