Related gene-specific medical variations for Gene (Select 284217) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362506	NM_005559.4(LAMA1):c.3052C>T (p.Pro1018Ser)	LAMA1 (P1018S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 3242794	NC_000018.9:g.(?_7117639)_(7118955_?)dup	LAMA1	Duplication	not provided	GUncertain significance
Select item 3242793	NC_000018.9:g.(?_7043206)_(7043424_?)del	LAMA1	Deletion	not provided	GPathogenic
Select item 3117395	NM_005559.4(LAMA1):c.8080C>A (p.Pro2694Thr)	LAMA1, LOC101927188 (P2694T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117362	NM_005559.4(LAMA1):c.1547C>T (p.Ser516Phe)	LAMA1, LOC112543434 (S516F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064885	NM_005559.4(LAMA1):c.6191-29G>A	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 3064156	NM_005559.4(LAMA1):c.7160G>A (p.Trp2387Ter)	LAMA1 (W2387*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2983654	NM_005559.4(LAMA1):c.1840-18C>G	LAMA1, LOC126862686	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965306	NM_005559.4(LAMA1):c.1521C>T (p.Gly507=)	LOC112543434, LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899067	NM_005559.4(LAMA1):c.1423-3C>T	LAMA1, LOC112543434	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2898512	NM_005559.4(LAMA1):c.8136C>A (p.Gly2712=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2897726	NM_005559.4(LAMA1):c.8084G>A (p.Arg2695Gln)	LAMA1, LOC101927188 (R2695Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2869215	NM_005559.4(LAMA1):c.8084G>C (p.Arg2695Pro)	LAMA1, LOC101927188 (R2695P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2834299	NM_005559.4(LAMA1):c.8127C>T (p.Tyr2709=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2719589	NM_005559.4(LAMA1):c.8095-7_8095-6del	LAMA1, LOC101927188	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2689343	NM_005559.4(LAMA1):c.5873T>G (p.Leu1958Arg)	LAMA1 (L1958R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2689342	NM_005559.4(LAMA1):c.242C>A (p.Pro81Gln)	LAMA1 (P81Q)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2682309	NM_005559.4(LAMA1):c.7970T>C (p.Leu2657Ser)	LAMA1, LOC101927188 (L2657S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610934	NM_005559.4(LAMA1):c.1450C>T (p.Arg484Cys)	LAMA1, LOC112543434 (R484C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591457	NM_005559.4(LAMA1):c.7748C>G (p.Ala2583Gly)	LAMA1, LOC126862685 (A2583G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589351	NM_005559.4(LAMA1):c.7706C>T (p.Ala2569Val)	LAMA1, LOC126862685 (A2569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582654	NM_005559.4(LAMA1):c.5700dup (p.Ser1901fs)	LAMA1 (S1901fs)	Duplication (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 2582348	NM_005559.4(LAMA1):c.1211C>A (p.Ser404Tyr)	LAMA1 (S404Y)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2500193	NM_005559.4(LAMA1):c.1423-12C>G	LAMA1, LOC112543434	Single nucleotide variant (intron variant)	LAMA1-related disorder	GPathogenic
Select item 2486087	NM_005559.4(LAMA1):c.7688G>C (p.Gly2563Ala)	LAMA1, LOC126862685 (G2563A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433289	NM_005559.4(LAMA1):c.8282C>T (p.Ala2761Val)	LAMA1 (A2761V)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433288	NM_005559.4(LAMA1):c.5071A>G (p.Thr1691Ala)	LAMA1 (T1691A)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433286	NM_005559.4(LAMA1):c.9068C>A (p.Ala3023Asp)	LAMA1 (A3023D)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433285	NM_005559.4(LAMA1):c.2135C>T (p.Pro712Leu)	LAMA1 (P712L)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433284	NM_005559.4(LAMA1):c.2700C>T (p.Arg900=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433283	NM_005559.4(LAMA1):c.6145A>G (p.Thr2049Ala)	LAMA1 (T2049A)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433282	NM_005559.4(LAMA1):c.2879C>T (p.Ser960Leu)	LAMA1 (S960L)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433281	NM_005559.4(LAMA1):c.7430T>C (p.Val2477Ala)	LAMA1 (V2477A)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2433280	NM_005559.4(LAMA1):c.8825T>C (p.Leu2942Pro)	LAMA1 (L2942P)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 2270831	NM_005559.4(LAMA1):c.8083C>T (p.Arg2695Trp)	LAMA1, LOC101927188 (R2695W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267858	NM_005559.4(LAMA1):c.1531G>A (p.Val511Ile)	LAMA1, LOC112543434 (V511I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253438	NM_005559.4(LAMA1):c.7774C>T (p.Arg2592Trp)	LAMA1, LOC126862685 (R2592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213216	NM_005559.4(LAMA1):c.8147T>C (p.Phe2716Ser)	LOC101927188, LAMA1 (F2716S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189384	NM_005559.4(LAMA1):c.8133C>T (p.Pro2711=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2184064	NM_005559.4(LAMA1):c.8200A>G (p.Arg2734Gly)	LAMA1, LOC101927188 (R2734G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179655	NM_005559.4(LAMA1):c.8094+9G>A	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2086183	NM_005559.4(LAMA1):c.7639G>A (p.Val2547Ile)	LAMA1, LOC126862685 (V2547I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2086182	NM_005559.4(LAMA1):c.8192C>T (p.Ser2731Leu)	LAMA1, LOC101927188 (S2731L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2056423	NM_005559.4(LAMA1):c.7764G>C (p.Leu2588Phe)	LAMA1, LOC126862685 (L2588F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019646	NM_005559.4(LAMA1):c.7628_7632del (p.Pro2543fs)	LAMA1, LOC126862685 (P2543fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1991173	NM_005559.4(LAMA1):c.1451G>A (p.Arg484His)	LAMA1, LOC112543434 (R484H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981152	NM_005559.4(LAMA1):c.1488C>A (p.Asn496Lys)	LAMA1, LOC112543434 (N496K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977275	NM_005559.4(LAMA1):c.7678C>T (p.Pro2560Ser)	LAMA1, LOC126862685 (P2560S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968414	NM_005559.4(LAMA1):c.7627-15A>G	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932769	NM_005559.4(LAMA1):c.1529A>G (p.Asp510Gly)	LAMA1, LOC112543434 (D510G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932681	NM_005559.4(LAMA1):c.8207+20C>T	LAMA1, LOC101927188	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920914	NM_005559.4(LAMA1):c.1840-18C>T	LAMA1, LOC126862686	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918218	NM_005559.4(LAMA1):c.1563+18_1563+19insACG	LAMA1, LOC112543434	Insertion (intron variant)	not provided	GLikely benign
Select item 1916055	NM_005559.4(LAMA1):c.7725G>A (p.Thr2575=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1904103	NM_005559.4(LAMA1):c.8128G>C (p.Val2710Leu)	LAMA1, LOC101927188 (V2710L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1804770	NM_005559.4(LAMA1):c.7779-13A>G	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1696951	NM_005559.4(LAMA1):c.1427A>G (p.Asn476Ser)	LAMA1, LOC112543434 (N476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670541	NM_005559.4(LAMA1):c.7778+10C>T	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665902	NM_005559.4(LAMA1):c.7763T>C (p.Leu2588Ser)	LAMA1, LOC126862685 (L2588S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1633314	NM_005559.4(LAMA1):c.7785C>A (p.Ile2595=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630789	NM_005559.4(LAMA1):c.8052T>C (p.Asp2684=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1630050	NM_005559.4(LAMA1):c.8207+19T>C	LAMA1, LOC101927188	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608558	NM_005559.4(LAMA1):c.8193G>A (p.Ser2731=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1578732	NM_005559.4(LAMA1):c.7778+11G>A	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1562843	NM_005559.4(LAMA1):c.8049C>T (p.Pro2683=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1422652	NM_005559.4(LAMA1):c.7670A>C (p.His2557Pro)	LOC126862685, LAMA1 (H2557P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402619	NM_005559.4(LAMA1):c.8005G>A (p.Asp2669Asn)	LAMA1, LOC101927188 (D2669N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1370338	NM_005559.4(LAMA1):c.7748C>T (p.Ala2583Val)	LAMA1, LOC126862685 (A2583V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1355390	NM_005559.4(LAMA1):c.8160A>C (p.Gln2720His)	LAMA1, LOC101927188 (Q2720H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1328074	NM_005559.4(LAMA1):c.1563+9C>T	LAMA1, LOC112543434	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1323159	NM_005559.4(LAMA1):c.6489+1G>C	LAMA1	Single nucleotide variant (splice donor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1323157	NM_005559.4(LAMA1):c.2480G>A (p.Trp827Ter)	LAMA1 (W827*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1168770	NM_005559.4(LAMA1):c.7778+12C>T	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 987297	NM_005559.4(LAMA1):c.11del (p.Gly4fs)	LAMA1 (G4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 932098	NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs)	LAMA1 (E293fs)	Indel (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 931665	NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter)	LAMA1 (Q1823*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 808353	NM_005559.4(LAMA1):c.403T>C (p.Trp135Arg)	LAMA1 (W135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794480	NM_005559.4(LAMA1):c.8073G>A (p.Leu2691=)	LAMA1, LOC101927188	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 789235	NM_005559.4(LAMA1):c.7724C>T (p.Thr2575Met)	LAMA1, LOC126862685 (T2575M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 786330	NM_005559.4(LAMA1):c.7674C>G (p.Val2558=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786329	NM_005559.4(LAMA1):c.7716C>T (p.His2572=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786328	NM_005559.4(LAMA1):c.7736G>A (p.Ser2579Asn)	LAMA1, LOC126862685 (S2579N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 744057	NM_005559.4(LAMA1):c.1423-10T>C	LAMA1, LOC112543434	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 732516	NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys)	LAMA1, LOC126862685 (N2553K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685980	GRCh37/hg19 18p11.31(chr18:6938927-6969565)x1	LAMA1	Copy number loss	not provided	GUncertain significance
Select item 684542	Single allele	LAMA1	Deletion	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Gnot provided
Select item 517432	NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs)	LAMA1, LOC101927188 (L2690fs)	Duplication (non-coding transcript variant +1 more)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 500447	NM_005559.4(LAMA1):c.7979A>G (p.Asn2660Ser)	LAMA1, LOC101927188 (N2660S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 377344	NM_005559.4(LAMA1):c.1909G>A (p.Val637Met)	LAMA1 (V637M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376791	NM_005559.4(LAMA1):c.2808+6A>G	LAMA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 372974	NM_005559.4(LAMA1):c.8192C>A (p.Ser2731Ter)	LAMA1, LOC101927188 (S2731*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 209990	NM_005559.3:c.2988_2989delA	LAMA1	Deletion	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 144108	NM_005559.4(LAMA1):c.7965-15_7965-3del	LOC101927188, LAMA1	Deletion (non-coding transcript variant +1 more)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 91966	NM_005559.4(LAMA1):c.2488A>C (p.Arg830=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 94