LAMA1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 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
Select item 1985835	NM_005559.4(LAMA1):c.8768C>T (p.Ser2923Phe)	LAMA1 (S2923F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949901	NM_005559.4(LAMA1):c.8765C>T (p.Thr2922Ile)	LAMA1 (T2922I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442030	NM_005559.4(LAMA1):c.8765C>G (p.Thr2922Ser)	LAMA1 (T2922S)	Single nucleotide variant (missense variant)	not provided	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 1284926	NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)	LAMA1 (R2921*)	Single nucleotide variant (nonsense)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1353343	NM_005559.4(LAMA1):c.8741T>A (p.Val2914Glu)	LAMA1 (V2914E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1075978	NM_005559.4(LAMA1):c.8737del (p.Asp2913fs)	LAMA1 (D2913fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 781352	NM_005559.4(LAMA1):c.8736A>G (p.Ser2912=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2025348	NM_005559.4(LAMA1):c.8712C>T (p.Val2904=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573545	NM_005559.4(LAMA1):c.8711-17C>G	LAMA1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2000777	NM_005559.4(LAMA1):c.8710+18T>C	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920449	NM_005559.4(LAMA1):c.8710+17C>T	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730159	NM_005559.4(LAMA1):c.8710+9T>G	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500192	NM_005559.4(LAMA1):c.8691_8695dup (p.Gly2899fs)	LAMA1 (G2899fs)	Duplication (frameshift variant)	LAMA1-related disorder	GPathogenic
Select item 2408136	NM_005559.4(LAMA1):c.8695G>A (p.Gly2899Arg)	LAMA1 (G2899R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417586	NM_005559.4(LAMA1):c.8694C>T (p.Ser2898=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313327	NM_005559.4(LAMA1):c.8689G>A (p.Gly2897Arg)	LAMA1 (G2897R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742224	NM_005559.4(LAMA1):c.8688C>T (p.Asp2896=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	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
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 2100571	NM_005559.4(LAMA1):c.8658C>T (p.Tyr2886=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105227	NM_005559.4(LAMA1):c.8652G>C (p.Arg2884Ser)	LAMA1 (R2884S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003298	NM_005559.4(LAMA1):c.8652G>A (p.Arg2884=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207756	NM_005559.4(LAMA1):c.8649C>G (p.Asn2883Lys)	LAMA1 (N2883K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739781	NM_005559.4(LAMA1):c.8646G>A (p.Val2882=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965380	NM_005559.4(LAMA1):c.8643G>A (p.Thr2881=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600186	NM_005559.4(LAMA1):c.8631G>A (p.Val2877=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1911415	NM_005559.4(LAMA1):c.8628G>A (p.Pro2876=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738230	NM_005559.4(LAMA1):c.8623A>C (p.Ser2875Arg)	LAMA1 (S2875R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1382668	NM_005559.4(LAMA1):c.8603G>C (p.Ser2868Thr)	LAMA1 (S2868T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1918569	NM_005559.4(LAMA1):c.8594C>T (p.Thr2865Met)	LAMA1 (T2865M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000173	NM_005559.4(LAMA1):c.8579G>A (p.Cys2860Tyr)	LAMA1 (C2860Y)	Single nucleotide variant (missense variant)	not provided	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 2528393	NM_005559.4(LAMA1):c.8566A>C (p.Ser2856Arg)	LAMA1 (S2856R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 209988	NM_005559.4(LAMA1):c.8557-1G>C	LAMA1	Single nucleotide variant (splice acceptor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	GUncertain significance
Select item 1341601	NM_005559.4(LAMA1):c.8557-7G>A	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1170829	NM_005559.4(LAMA1):c.8557-17C>T	LAMA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971899	NM_005559.4(LAMA1):c.8556+17A>G	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 749082	NM_005559.4(LAMA1):c.8556+9C>T	LAMA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 983560	NM_005559.4(LAMA1):c.8556+1G>A	LAMA1	Single nucleotide variant (splice donor variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2303659	NM_005559.4(LAMA1):c.8555A>C (p.Asn2852Thr)	LAMA1 (N2852T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1649163	NM_005559.4(LAMA1):c.8514A>T (p.Leu2838=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499544	NM_005559.4(LAMA1):c.8494G>T (p.Val2832Leu)	LAMA1 (V2832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2593178	NM_005559.4(LAMA1):c.8455C>G (p.Pro2819Ala)	LAMA1 (P2819A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2113323	NM_005559.4(LAMA1):c.8455C>T (p.Pro2819Ser)	LAMA1 (P2819S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714739	NM_005559.4(LAMA1):c.8454T>C (p.Ser2818=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 498402	NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)	LAMA1 (R2816Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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