ClinVar for MedGen (Select 863258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233948	NM_005559.4(LAMA1):c.279_280delinsTT (p.Trp93_Gln94delinsCysTer)	LAMA1	Indel (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 3068488	NM_005559.4(LAMA1):c.8622del (p.Asp2874fs)	LAMA1 (D2874fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 3068487	NM_005559.4(LAMA1):c.1738-2A>G	LAMA1	Single nucleotide variant (splice acceptor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	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 3063621	NM_005559.4(LAMA1):c.1189del (p.Cys397fs)	LAMA1 (C397fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 2692495	NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)	LAMA1 (E1704fs)	Duplication (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
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 2689341	NM_005559.4(LAMA1):c.5171C>A (p.Ala1724Asp)	LAMA1 (A1724D)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	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 2506484	NM_005559.4(LAMA1):c.4171_4172del (p.Arg1391fs)	LAMA1 (R1391fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 2506318	NM_005559.4(LAMA1):c.1078del (p.Val360fs)	LAMA1 (V360fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 2444624	NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)	LAMA1	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 2444495	NM_005559.4(LAMA1):c.5235_5236del (p.Leu1746fs)	LAMA1 (L1746fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 2433290	NM_005559.4(LAMA1):c.1653G>C (p.Gln551His)	LAMA1 (Q551H)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	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 2412762	NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)	LAMA1 (G1572fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1805050	NM_005559.4(LAMA1):c.7603G>A (p.Gly2535Ser)	LAMA1 (G2535S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1805047	NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)	LAMA1 (Q2112fs)	Duplication (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1804955	NM_005559.4(LAMA1):c.9160T>C (p.Phe3054Leu)	LAMA1 (F3054L)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1804140	NM_005559.4(LAMA1):c.7452+1G>A	LAMA1	Single nucleotide variant (splice donor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1804139	NM_005559.4(LAMA1):c.2932_2933delinsG (p.Lys978fs)	LAMA1 (K978fs)	Indel (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1723357	NM_005559.4(LAMA1):c.7195+2T>A	LAMA1	Single nucleotide variant (splice donor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1711894	NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)	LAMA1 (D2405N)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1710003	NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs)	LAMA1 (Y1588fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1710002	NM_005559.4(LAMA1):c.4663+6T>G	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1709400	NM_005559.4(LAMA1):c.4807-2A>G	LAMA1	Single nucleotide variant (splice acceptor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1699745	NM_005559.4(LAMA1):c.7136A>T (p.Asp2379Val)	LAMA1 (D2379V)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1699418	NM_005559.4(LAMA1):c.4024G>C (p.Val1342Leu)	LAMA1 (V1342L)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1698392	NM_005559.4(LAMA1):c.767G>A (p.Arg256His)	LAMA1 (R256H)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1675305	NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)	LAMA1 (S2337fs)	Duplication (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1675304	NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter)	LAMA1 (R1307*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1463281	NM_005559.4(LAMA1):c.485G>A (p.Arg162His)	LAMA1 (R162H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376224	NM_005559.4(LAMA1):c.415C>T (p.Arg139Cys)	LAMA1 (R139C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1365082	NM_005559.4(LAMA1):c.2323G>A (p.Gly775Ser)	LAMA1 (G775S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1361973	NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg)	LAMA1 (G1227R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1328374	NM_005559.4(LAMA1):c.2690A>G (p.Lys897Arg)	LAMA1 (K897R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
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 1300106	NM_005559.4(LAMA1):c.4026T>G (p.Val1342=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1299963	NM_005559.4(LAMA1):c.858+1G>T	LAMA1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1284926	NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)	LAMA1 (R2921*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1238598	NM_005559.4(LAMA1):c.5496+19C>T	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1189756	NM_005559.4(LAMA1):c.2274+3G>T	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1169437	NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1168741	NM_005559.4(LAMA1):c.2109C>T (p.Ala703=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168740	NM_005559.4(LAMA1):c.2493T>C (p.Cys831=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168739	NM_005559.4(LAMA1):c.2763T>C (p.Cys921=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168738	NM_005559.4(LAMA1):c.3378T>C (p.Gly1126=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1168737	NM_005559.4(LAMA1):c.3573C>T (p.Thr1191=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1168735	NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1168731	NM_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu)	LAMA1 (K2002E)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1168730	NM_005559.4(LAMA1):c.6227T>C (p.Ile2076Thr)	LAMA1 (I2076T)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1168145	NM_005559.4(LAMA1):c.5380-13G>A	LAMA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167732	NM_005559.4(LAMA1):c.3126+7A>G	LAMA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167730	NM_005559.4(LAMA1):c.5391G>A (p.Leu1797=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1167217	NM_005559.4(LAMA1):c.6345+7T>C	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1167013	NM_005559.4(LAMA1):c.2051+14A>T	LAMA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166873	NM_005559.4(LAMA1):c.5288C>T (p.Ala1763Val)	LAMA1 (A1763V)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1166856	NM_005559.4(LAMA1):c.5496+20A>G	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign
Select item 1098919	NM_005559.4(LAMA1):c.1281C>A (p.Cys427Ter)	LAMA1 (C427*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098918	NM_005559.4(LAMA1):c.2962del (p.Tyr988fs)	LAMA1 (Y988fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098870	NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg)	LAMA1 (Q94R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1098869	NM_005559.4(LAMA1):c.3053del (p.Pro1018fs)	LAMA1 (P1018fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1098868	NM_005559.4(LAMA1):c.494del (p.Ile165fs)	LAMA1 (I165fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic
Select item 1065500	NM_005559.4(LAMA1):c.407T>C (p.Ile136Thr)	LAMA1 (I136T)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1065499	NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter)	LAMA1 (Q2890*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
Select item 1032336	NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe)	LAMA1 (S2017F)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1032335	NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	LAMA1 (P1402S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1032334	NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr)	LAMA1 (I124T)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1032332	NM_005559.4(LAMA1):c.2856C>G (p.Asn952Lys)	LAMA1 (N952K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032331	NM_005559.4(LAMA1):c.1862C>T (p.Thr621Ile)	LAMA1 (T621I)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1032330	NM_005559.4(LAMA1):c.1846G>A (p.Gly616Arg)	LAMA1 (G616R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030939	NM_005559.4(LAMA1):c.6779C>A (p.Ser2260Tyr)	LAMA1 (S2260Y)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030938	NM_005559.4(LAMA1):c.6557C>A (p.Ser2186Tyr)	LAMA1 (S2186Y)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030937	NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg)	LAMA1 (K2010R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030936	NM_005559.4(LAMA1):c.5726T>C (p.Ile1909Thr)	LAMA1 (I1909T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030935	NM_005559.4(LAMA1):c.5660+5G>T	LAMA1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1030934	NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly)	LAMA1 (R1862G)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030933	NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	LAMA1 (G1519R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030932	NM_005559.4(LAMA1):c.3687+4A>C	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030931	NM_005559.4(LAMA1):c.3364-4G>T	LAMA1	Single nucleotide variant (intron variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030930	NM_005559.4(LAMA1):c.3191A>C (p.Gln1064Pro)	LAMA1 (Q1064P)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1030929	NM_005559.4(LAMA1):c.2524C>T (p.Pro842Ser)	LAMA1 (P842S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GUncertain significance
Select item 1030928	NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu)	LAMA1 (P540L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028396	NM_005559.4(LAMA1):c.8263A>G (p.Met2755Val)	LAMA1 (M2755V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028395	NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln)	LAMA1 (R2396Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1028394	NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln)	LAMA1 (R2394Q)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1028393	NM_005559.4(LAMA1):c.7124C>T (p.Thr2375Ile)	LAMA1 (T2375I)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1027445	NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)	LAMA1 (R62*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GPathogenic/Likely pathogenic

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