284217[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 150598	GRCh38/hg38 18p11.31-11.23(chr18:6299210-7244644)x3	ARHGAP28, ARHGAP28-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 59734	GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3	ARHGAP28, LAMA1 +12 more	Copy number gain	See cases	GBenign
Select item 148553	GRCh38/hg38 18p11.31-11.23(chr18:6894970-7577151)x3	ARHGAP28, LAMA1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 151490	GRCh38/hg38 18p11.31-11.23(chr18:6913063-7354636)x3	ARHGAP28, LAMA1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 154424	GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3	ANKRD12, ARHGAP28 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1354259	NM_005559.4(LAMA1):c.9220G>A (p.Glu3074Lys)	LAMA1 (E3074K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522847	NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)	LAMA1 (F3066fs)	Deletion (frameshift variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GLikely pathogenic
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 1369618	NM_005559.4(LAMA1):c.9181G>A (p.Glu3061Lys)	LAMA1 (E3061K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083552	NM_005559.4(LAMA1):c.9177G>A (p.Ala3059=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098339	NM_005559.4(LAMA1):c.9166T>C (p.Phe3056Leu)	LAMA1 (F3056L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	GUncertain significance
Select item 2044307	NM_005559.4(LAMA1):c.9158C>G (p.Ser3053Cys)	LAMA1 (S3053C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916687	NM_005559.4(LAMA1):c.9146C>T (p.Pro3049Leu)	LAMA1 (P3049L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725021	NM_005559.4(LAMA1):c.9123G>A (p.Arg3041=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738598	NM_005559.4(LAMA1):c.9111C>T (p.Arg3037=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497587	NM_005559.4(LAMA1):c.9110G>A (p.Arg3037His)	LAMA1 (R3037H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186671	NM_005559.4(LAMA1):c.9105G>A (p.Ser3035=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312237	NM_005559.4(LAMA1):c.9092G>A (p.Arg3031His)	LAMA1 (R3031H)	Single nucleotide variant (missense variant)	not provided	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 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 2172153	NM_005559.4(LAMA1):c.9067+9G>A	LAMA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 733828	NM_005559.4(LAMA1):c.9067+8C>T	LAMA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284742	NM_005559.4(LAMA1):c.9067+4T>C	LAMA1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2999638	NM_005559.4(LAMA1):c.9018G>A (p.Gln3006=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2418424	NM_005559.4(LAMA1):c.8998G>A (p.Ala3000Thr)	LAMA1 (A3000T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560544	NM_005559.4(LAMA1):c.8997C>T (p.Gly2999=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980220	NM_005559.4(LAMA1):c.8996G>A (p.Gly2999Asp)	LAMA1 (G2999D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2181919	NM_005559.4(LAMA1):c.8991A>G (p.Ala2997=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951205	NM_005559.4(LAMA1):c.8989G>A (p.Ala2997Thr)	LAMA1 (A2997T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3013455	NM_005559.4(LAMA1):c.8988C>T (p.Asn2996=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169437	NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1704761	NM_005559.4(LAMA1):c.8963G>A (p.Arg2988His)	LAMA1 (R2988H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748428	NM_005559.4(LAMA1):c.8962C>T (p.Arg2988Cys)	LAMA1 (R2988C)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GLikely benign
Select item 808345	NM_005559.4(LAMA1):c.8960A>G (p.His2987Arg)	LAMA1 (H2987R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178149	NM_005559.4(LAMA1):c.8936C>T (p.Thr2979Ile)	LAMA1 (T2979I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523892	NM_005559.4(LAMA1):c.8931G>A (p.Trp2977Ter)	LAMA1 (W2977*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3257558	NM_005559.4(LAMA1):c.8922T>C (p.Asp2974=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3041764	NM_005559.4(LAMA1):c.8904C>T (p.Thr2968=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 722506	NM_005559.4(LAMA1):c.8904C>A (p.Thr2968=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724416	NM_005559.4(LAMA1):c.8903C>T (p.Thr2968Ile)	LAMA1 (T2968I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 723048	NM_005559.4(LAMA1):c.8856T>C (p.His2952=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641270	NM_005559.4(LAMA1):c.8845-12A>G	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152481	GRCh38/hg38 18p11.31-11.23(chr18:6947044-8084807)x3	LAMA1, LOC101927188 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148607	GRCh38/hg38 18p11.31-11.23(chr18:6947044-7470216)x3	LAMA1, LOC101927188 +5 more	Copy number gain	See cases	GLikely benign
Select item 1170185	NM_005559.4(LAMA1):c.8844+19T>G	LAMA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630752	NM_005559.4(LAMA1):c.8844+12C>A	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2206826	NM_005559.4(LAMA1):c.8839G>C (p.Gly2947Arg)	LAMA1 (G2947R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2896041	NM_005559.4(LAMA1):c.8838C>T (p.Asp2946=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630390	NM_005559.4(LAMA1):c.8829G>A (p.Glu2943=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1897152	NM_005559.4(LAMA1):c.8777del (p.Asn2926fs)	LAMA1 (N2926fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2276603	NM_005559.4(LAMA1):c.8775G>C (p.Gln2925His)	LAMA1 (Q2925H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1579818	NM_005559.4(LAMA1):c.8772G>A (p.Ser2924=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412654	NM_005559.4(LAMA1):c.8771C>T (p.Ser2924Leu)	LAMA1 (S2924L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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