ClinVar for Gene (Select 284217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380539	NM_005559.4(LAMA1):c.8G>C (p.Gly3Ala)	LAMA1 (G3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380538	NM_005559.4(LAMA1):c.2638G>A (p.Ala880Thr)	LAMA1 (A880T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380537	NM_005559.4(LAMA1):c.8280_8306dup (p.Leu2768_His2769insGlnAlaAspTyrAlaValLeuGlnLeu)	LAMA1	Duplication	not provided	GUncertain significance
Select item 3380536	NM_005559.4(LAMA1):c.8587G>A (p.Asp2863Asn)	LAMA1 (D2863N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378015	NM_005559.4(LAMA1):c.2403-2A>G	LAMA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3375238	NC_000018.9:g.(?_6941740)_(7117797_?)dup	LAMA1	Duplication	not specified	GUncertain significance
Select item 3374939	NM_005559.4(LAMA1):c.176G>A (p.Arg59Gln)	LAMA1 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374912	NM_005559.4(LAMA1):c.2293A>G (p.Thr765Ala)	LAMA1 (T765A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372039	NM_005559.4(LAMA1):c.3223G>A (p.Asp1075Asn)	LAMA1 (D1075N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371323	NM_005559.4(LAMA1):c.2698C>T (p.Arg900Cys)	LAMA1 (R900C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368982	NM_005559.4(LAMA1):c.385G>A (p.Ala129Thr)	LAMA1 (A129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368302	NM_005559.4(LAMA1):c.2557G>A (p.Gly853Ser)	LAMA1 (G853S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367326	NM_005559.4(LAMA1):c.3917C>T (p.Thr1306Met)	LAMA1 (T1306M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366651	NM_005559.4(LAMA1):c.330T>C (p.Thr110=)	LAMA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366406	NM_005559.4(LAMA1):c.2052-14C>G	LAMA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3358382	NM_005559.4(LAMA1):c.3398G>A (p.Arg1133Gln)	LAMA1 (R1133Q)	Single nucleotide variant (missense variant)	LAMA1-related disorder	GUncertain significance
Select item 3346512	NM_005559.4(LAMA1):c.8578T>G (p.Cys2860Gly)	LAMA1 (C2860G)	Single nucleotide variant (missense variant)	LAMA1-related disorder	GUncertain significance
Select item 3343115	NM_005559.4(LAMA1):c.1835T>G (p.Ile612Ser)	LAMA1 (I612S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338698	NM_005559.4(LAMA1):c.2965G>A (p.Ala989Thr)	LAMA1 (A989T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338615	NM_005559.4(LAMA1):c.653T>C (p.Phe218Ser)	LAMA1 (F218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289866	NM_005559.4(LAMA1):c.5842A>G (p.Ser1948Gly)	LAMA1 (S1948G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289865	NM_005559.4(LAMA1):c.3662T>G (p.Leu1221Arg)	LAMA1 (L1221R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289864	NM_005559.4(LAMA1):c.6232G>A (p.Ala2078Thr)	LAMA1 (A2078T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289862	NM_005559.4(LAMA1):c.523A>G (p.Arg175Gly)	LAMA1 (R175G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289861	NM_005559.4(LAMA1):c.2434G>A (p.Asp812Asn)	LAMA1 (D812N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289860	NM_005559.4(LAMA1):c.3094C>T (p.His1032Tyr)	LAMA1 (H1032Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289859	NM_005559.4(LAMA1):c.3116T>C (p.Val1039Ala)	LAMA1 (V1039A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289858	NM_005559.4(LAMA1):c.3950T>C (p.Ile1317Thr)	LAMA1 (I1317T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289857	NM_005559.4(LAMA1):c.8901A>C (p.Lys2967Asn)	LAMA1 (K2967N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289856	NM_005559.4(LAMA1):c.8900A>C (p.Lys2967Thr)	LAMA1 (K2967T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289855	NM_005559.4(LAMA1):c.8899A>C (p.Lys2967Gln)	LAMA1 (K2967Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289853	NM_005559.4(LAMA1):c.7624G>A (p.Val2542Met)	LAMA1 (V2542M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289852	NM_005559.4(LAMA1):c.8762G>A (p.Arg2921Gln)	LAMA1 (R2921Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289850	NM_005559.4(LAMA1):c.3698A>G (p.Tyr1233Cys)	LAMA1 (Y1233C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257558	NM_005559.4(LAMA1):c.8922T>C (p.Asp2974=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257269	NM_005559.4(LAMA1):c.1827C>T (p.Asp609=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251771	NM_005559.4(LAMA1):c.3309C>A (p.Asn1103Lys)	LAMA1 (N1103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251297	NM_005559.4(LAMA1):c.2136G>A (p.Pro712=)	LAMA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3250817	NM_005559.4(LAMA1):c.5829G>A (p.Ala1943=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3239142	NM_005559.4(LAMA1):c.1588G>A (p.Val530Ile)	LAMA1 (V530I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234841	GRCh37/hg19 18p11.31(chr18:6999444-6999996)x1	LAMA1	Copy number loss	not provided	GUncertain significance
Select item 3234782	NM_005559.4(LAMA1):c.310T>G (p.Tyr104Asp)	LAMA1 (Y104D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3117404	NM_005559.4(LAMA1):c.934C>A (p.Pro312Thr)	LAMA1 (P312T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117403	NM_005559.4(LAMA1):c.9188A>G (p.His3063Arg)	LAMA1 (H3063R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117402	NM_005559.4(LAMA1):c.9091C>T (p.Arg3031Cys)	LAMA1 (R3031C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117400	NM_005559.4(LAMA1):c.8389T>A (p.Trp2797Arg)	LAMA1 (W2797R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117398	NM_005559.4(LAMA1):c.8347A>G (p.Arg2783Gly)	LAMA1 (R2783G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117397	NM_005559.4(LAMA1):c.8264T>C (p.Met2755Thr)	LAMA1 (M2755T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117396	NM_005559.4(LAMA1):c.8219A>G (p.Glu2740Gly)	LAMA1 (E2740G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3117393	NM_005559.4(LAMA1):c.7931A>T (p.His2644Leu)	LAMA1 (H2644L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117392	NM_005559.4(LAMA1):c.7925C>T (p.Ser2642Leu)	LAMA1 (S2642L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117391	NM_005559.4(LAMA1):c.7543G>A (p.Ala2515Thr)	LAMA1 (A2515T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117389	NM_005559.4(LAMA1):c.6399G>C (p.Gln2133His)	LAMA1 (Q2133H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117388	NM_005559.4(LAMA1):c.6319A>G (p.Ser2107Gly)	LAMA1 (S2107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117387	NM_005559.4(LAMA1):c.5864G>A (p.Gly1955Asp)	LAMA1 (G1955D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117386	NM_005559.4(LAMA1):c.5833G>C (p.Val1945Leu)	LAMA1 (V1945L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117385	NM_005559.4(LAMA1):c.5729A>G (p.Gln1910Arg)	LAMA1 (Q1910R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117384	NM_005559.4(LAMA1):c.5726T>A (p.Ile1909Asn)	LAMA1 (I1909N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117383	NM_005559.4(LAMA1):c.5716C>A (p.His1906Asn)	LAMA1 (H1906N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117381	NM_005559.4(LAMA1):c.506G>A (p.Arg169Gln)	LAMA1 (R169Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117380	NM_005559.4(LAMA1):c.4990C>A (p.Leu1664Met)	LAMA1 (L1664M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117379	NM_005559.4(LAMA1):c.4849A>G (p.Ile1617Val)	LAMA1 (I1617V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3117378	NM_005559.4(LAMA1):c.4838A>T (p.Asp1613Val)	LAMA1 (D1613V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117377	NM_005559.4(LAMA1):c.4672G>A (p.Asp1558Asn)	LAMA1 (D1558N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117376	NM_005559.4(LAMA1):c.4606G>A (p.Gly1536Arg)	LAMA1 (G1536R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117374	NM_005559.4(LAMA1):c.3758A>G (p.Asn1253Ser)	LAMA1 (N1253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117373	NM_005559.4(LAMA1):c.3440G>A (p.Cys1147Tyr)	LAMA1 (C1147Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117372	NM_005559.4(LAMA1):c.3391G>C (p.Glu1131Gln)	LAMA1 (E1131Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117371	NM_005559.4(LAMA1):c.3101G>A (p.Gly1034Asp)	LAMA1 (G1034D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117370	NM_005559.4(LAMA1):c.2854A>G (p.Asn952Asp)	LAMA1 (N952D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117369	NM_005559.4(LAMA1):c.2779G>A (p.Val927Met)	LAMA1 (V927M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117368	NM_005559.4(LAMA1):c.2617T>C (p.Cys873Arg)	LAMA1 (C873R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117367	NM_005559.4(LAMA1):c.2199A>G (p.Ile733Met)	LAMA1 (I733M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117365	NM_005559.4(LAMA1):c.2041G>T (p.Ala681Ser)	LAMA1 (A681S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117364	NM_005559.4(LAMA1):c.1794G>T (p.Glu598Asp)	LAMA1 (E598D)	Single nucleotide variant (missense variant)	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 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 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063553	GRCh37/hg19 18p11.31-11.23(chr18:6737164-7388708)x3	ARHGAP28, LAMA1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063539	GRCh37/hg19 18p11.31-11.23(chr18:6939845-8092116)x3	LAMA1, LRRC30 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3052035	NM_005559.4(LAMA1):c.8595G>A (p.Thr2865=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 3050100	NM_005559.4(LAMA1):c.4932T>C (p.Asn1644=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 3047842	NM_005559.4(LAMA1):c.6490-7C>T	LAMA1	Single nucleotide variant (intron variant)	LAMA1-related disorder	GLikely benign
Select item 3047430	NM_005559.4(LAMA1):c.8685T>C (p.Phe2895=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign

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