"Ambry Genetics"[submitter] AND "LAMA5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2291692	NM_005560.6(LAMA5):c.11068A>G (p.Ser3690Gly)	LAMA5 (S3690G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472629	NM_005560.6(LAMA5):c.11026G>A (p.Ala3676Thr)	LAMA5 (A3676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2164307	NM_005560.6(LAMA5):c.11014C>T (p.Arg3672Trp)	LAMA5 (R3672W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2337333	NM_005560.6(LAMA5):c.11009T>C (p.Val3670Ala)	LAMA5 (V3670A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916477	NM_005560.6(LAMA5):c.10978G>A (p.Ala3660Thr)	LAMA5 (A3660T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3117498	NM_005560.6(LAMA5):c.10966C>T (p.Pro3656Ser)	LAMA5 (P3656S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513740	NM_005560.6(LAMA5):c.10960G>A (p.Val3654Met)	LAMA5 (V3654M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117497	NM_005560.6(LAMA5):c.10951C>T (p.Pro3651Ser)	LAMA5 (P3651S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294158	NM_005560.6(LAMA5):c.10919C>T (p.Pro3640Leu)	LAMA5 (P3640L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521399	NM_005560.6(LAMA5):c.10901C>T (p.Ala3634Val)	LAMA5 (A3634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315061	NM_005560.6(LAMA5):c.10892C>T (p.Pro3631Leu)	LAMA5 (P3631L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080959	NM_005560.6(LAMA5):c.10867G>A (p.Ala3623Thr)	LAMA5 (A3623T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2549670	NM_005560.6(LAMA5):c.10864G>C (p.Asp3622His)	LAMA5 (D3622H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593521	NM_005560.6(LAMA5):c.10862T>C (p.Val3621Ala)	LAMA5 (V3621A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117495	NM_005560.6(LAMA5):c.10843A>T (p.Asn3615Tyr)	LAMA5 (N3615Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289986	NM_005560.6(LAMA5):c.10831A>T (p.Met3611Leu)	LAMA5 (M3611L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117494	NM_005560.6(LAMA5):c.10826C>T (p.Ala3609Val)	LAMA5 (A3609V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2722658	NM_005560.6(LAMA5):c.10825G>T (p.Ala3609Ser)	LAMA5 (A3609S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036554	NM_005560.6(LAMA5):c.10820G>A (p.Arg3607Gln)	LAMA5 (R3607Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2620867	NM_005560.6(LAMA5):c.10819C>G (p.Arg3607Gly)	LAMA5 (R3607G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390928	NM_005560.6(LAMA5):c.10787G>A (p.Arg3596His)	LAMA5 (R3596H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159965	NM_005560.6(LAMA5):c.10699C>A (p.Pro3567Thr)	LAMA5 (P3567T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161799	NM_005560.6(LAMA5):c.10697C>T (p.Thr3566Met)	LAMA5 (T3566M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3117492	NM_005560.6(LAMA5):c.10694G>A (p.Arg3565Gln)	LAMA5 (R3565Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2272977	NM_005560.6(LAMA5):c.10681T>G (p.Leu3561Val)	LAMA5 (L3561V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460606	NM_005560.6(LAMA5):c.10672A>C (p.Ile3558Leu)	LAMA5 (I3558L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480583	NM_005560.6(LAMA5):c.10628T>C (p.Val3543Ala)	LAMA5 (V3543A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063971	NM_005560.6(LAMA5):c.10603C>T (p.Leu3535Phe)	LAMA5 (L3535F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3117491	NM_005560.6(LAMA5):c.10601-5C>T	LAMA5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2618780	NM_005560.6(LAMA5):c.10592T>C (p.Ile3531Thr)	LAMA5 (I3531T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225314	NM_005560.6(LAMA5):c.10582G>A (p.Gly3528Arg)	LAMA5 (G3528R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388987	NM_005560.6(LAMA5):c.10516C>T (p.Arg3506Trp)	LAMA5 (R3506W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2294017	NM_005560.6(LAMA5):c.10510C>T (p.Pro3504Ser)	LAMA5 (P3504S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2479099	NM_005560.6(LAMA5):c.10430A>G (p.His3477Arg)	LAMA5 (H3477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050473	NM_005560.6(LAMA5):c.10361G>A (p.Arg3454Gln)	LAMA5 (R3454Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2463522	NM_005560.6(LAMA5):c.10360C>T (p.Arg3454Trp)	LAMA5 (R3454W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1503044	NM_005560.6(LAMA5):c.10359C>G (p.His3453Gln)	LAMA5 (H3453Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2283348	NM_005560.6(LAMA5):c.10355C>T (p.Pro3452Leu)	LAMA5 (P3452L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515849	NM_005560.6(LAMA5):c.10334G>A (p.Arg3445Gln)	LAMA5 (R3445Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189971	NM_005560.6(LAMA5):c.10327G>A (p.Gly3443Arg)	LAMA5 (G3443R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2204258	NM_005560.6(LAMA5):c.10292G>A (p.Arg3431His)	LAMA5 (R3431H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391614	NM_005560.6(LAMA5):c.10288G>A (p.Val3430Met)	LAMA5 (V3430M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117490	NM_005560.6(LAMA5):c.10281+6G>A	LAMA5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 722429	NM_005560.6(LAMA5):c.10238G>A (p.Arg3413His)	LAMA5 (R3413H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2388110	NM_005560.6(LAMA5):c.10151G>A (p.Arg3384His)	LAMA5 (R3384H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2148628	NM_005560.6(LAMA5):c.10090C>G (p.Pro3364Ala)	LAMA5 (P3364A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 871095	NM_005560.6(LAMA5):c.10013G>A (p.Arg3338Gln)	LAMA5 (R3338Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3289984	NM_005560.6(LAMA5):c.10000C>T (p.Leu3334Phe)	LAMA5 (L3334F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117560	NM_005560.6(LAMA5):c.9994C>T (p.Pro3332Ser)	LAMA5 (P3332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2652473	NM_005560.6(LAMA5):c.9959G>A (p.Arg3320His)	LAMA5 (R3320H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2549596	NM_005560.6(LAMA5):c.9958C>T (p.Arg3320Cys)	LAMA5 (R3320C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600349	NM_005560.6(LAMA5):c.9952C>T (p.Arg3318Cys)	LAMA5 (R3318C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046593	NM_005560.6(LAMA5):c.9950G>A (p.Arg3317His)	LAMA5 (R3317H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536517	NM_005560.6(LAMA5):c.9949C>T (p.Arg3317Cys)	LAMA5 (R3317C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2163941	NM_005560.6(LAMA5):c.9892G>A (p.Ala3298Thr)	LAMA5 (A3298T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2208947	NM_005560.6(LAMA5):c.9883G>A (p.Ala3295Thr)	LAMA5 (A3295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117559	NM_005560.6(LAMA5):c.9824G>A (p.Arg3275His)	LAMA5 (R3275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2595698	NM_005560.6(LAMA5):c.9818C>T (p.Pro3273Leu)	LAMA5 (P3273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289995	NM_005560.6(LAMA5):c.9806G>A (p.Arg3269Gln)	LAMA5 (R3269Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289968	NM_005560.6(LAMA5):c.9729G>T (p.Arg3243Ser)	LAMA5 (R3243S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405339	NM_005560.6(LAMA5):c.9721C>T (p.Pro3241Ser)	LAMA5 (P3241S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2043926	NM_005560.6(LAMA5):c.9613G>A (p.Ala3205Thr)	LAMA5 (A3205T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2514750	NM_005560.6(LAMA5):c.9581C>T (p.Ala3194Val)	LAMA5 (A3194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3289983	NM_005560.6(LAMA5):c.9539G>A (p.Arg3180His)	LAMA5 (R3180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356989	NM_005560.6(LAMA5):c.9493C>T (p.Arg3165Trp)	LAMA5 (R3165W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2340086	NM_005560.6(LAMA5):c.9424C>A (p.Pro3142Thr)	LAMA5 (P3142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117558	NM_005560.6(LAMA5):c.9413C>T (p.Ser3138Leu)	LAMA5 (S3138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289969	NM_005560.6(LAMA5):c.9407C>T (p.Ala3136Val)	LAMA5 (A3136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2549311	NM_005560.6(LAMA5):c.9392G>A (p.Gly3131Asp)	LAMA5 (G3131D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548439	NM_005560.6(LAMA5):c.9336C>A (p.Ser3112Arg)	LAMA5 (S3112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307930	NM_005560.6(LAMA5):c.9326C>A (p.Thr3109Lys)	LAMA5 (T3109K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051257	NM_005560.6(LAMA5):c.9157C>G (p.Gln3053Glu)	LAMA5 (Q3053E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2486236	NM_005560.6(LAMA5):c.9140C>T (p.Thr3047Met)	LAMA5 (T3047M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543411	NM_005560.6(LAMA5):c.9074A>C (p.Lys3025Thr)	LAMA5 (K3025T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1648502	NM_005560.6(LAMA5):c.9065C>T (p.Ser3022Leu)	LAMA5 (S3022L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2186355	NM_005560.6(LAMA5):c.9058C>G (p.Leu3020Val)	LAMA5 (L3020V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2074767	NM_005560.6(LAMA5):c.9053C>T (p.Pro3018Leu)	LAMA5 (P3018L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2361823	NM_005560.6(LAMA5):c.8899G>C (p.Glu2967Gln)	LAMA5 (E2967Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390166	NM_005560.6(LAMA5):c.8841C>A (p.Asp2947Glu)	LAMA5 (D2947E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206883	NM_005560.6(LAMA5):c.8806G>A (p.Gly2936Arg)	LAMA5 (G2936R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289980	NM_005560.6(LAMA5):c.8793C>T (p.Arg2931=)	LAMA5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3117556	NM_005560.6(LAMA5):c.8773G>T (p.Val2925Leu)	LAMA5 (V2925L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2234333	NM_005560.6(LAMA5):c.8749A>T (p.Arg2917Trp)	LAMA5 (R2917W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352521	NM_005560.6(LAMA5):c.8711C>T (p.Thr2904Met)	LAMA5 (T2904M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117555	NM_005560.6(LAMA5):c.8651C>T (p.Thr2884Ile)	LAMA5 (T2884I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197035	NM_005560.6(LAMA5):c.8608C>T (p.Arg2870Trp)	LAMA5 (R2870W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2224544	NM_005560.6(LAMA5):c.8603A>G (p.Asn2868Ser)	LAMA5 (N2868S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2351265	NM_005560.6(LAMA5):c.8599C>T (p.Leu2867Phe)	LAMA5 (L2867F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458902	NM_005560.6(LAMA5):c.8530G>A (p.Val2844Ile)	LAMA5 (V2844I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217113	NM_005560.6(LAMA5):c.8485G>A (p.Ala2829Thr)	LAMA5 (A2829T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289975	NM_005560.6(LAMA5):c.8398C>T (p.Arg2800Cys)	LAMA5 (R2800C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534862	NM_005560.6(LAMA5):c.8363G>T (p.Arg2788Leu)	LAMA5 (R2788L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289965	NM_005560.6(LAMA5):c.8345T>C (p.Val2782Ala)	LAMA5 (V2782A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117553	NM_005560.6(LAMA5):c.8288A>G (p.Lys2763Arg)	LAMA5 (K2763R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117552	NM_005560.6(LAMA5):c.8266C>T (p.Leu2756Phe)	LAMA5 (L2756F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155218	NM_005560.6(LAMA5):c.8251C>T (p.Arg2751Trp)	LAMA5 (R2751W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2390648	NM_005560.6(LAMA5):c.8242C>T (p.Arg2748Cys)	LAMA5 (R2748C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3117551	NM_005560.6(LAMA5):c.8149G>A (p.Gly2717Ser)	LAMA5 (G2717S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321653	NM_005560.6(LAMA5):c.8108G>A (p.Arg2703His)	LAMA5 (R2703H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289976	NM_005560.6(LAMA5):c.8095A>G (p.Ile2699Val)	LAMA5 (I2699V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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