Related gene-specific medical variations for Gene (Select 3908) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362586	NM_000426.4(LAMA2):c.67_71del (p.Gln23fs)	LAMA2 (Q23fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3362268	NM_000426.4(LAMA2):c.5708C>G (p.Ser1903Ter)	LAMA2 (S1903*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 3361471	NM_000426.4(LAMA2):c.6221A>G (p.Asp2074Gly)	LAMA2 (D2074G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360766	NM_000426.4(LAMA2):c.4975G>A (p.Ala1659Thr)	LAMA2 (A1659T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359962	NM_000426.4(LAMA2):c.2595C>G (p.Cys865Trp)	LAMA2 (C865W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338133	NM_000426.4(LAMA2):c.1783-22904T>A	LAMA2	Single nucleotide variant (intron variant)	Muscle tissue disorder	GUncertain significance
Select item 3246072	NC_000006.11:g.(?_129393157)_(129465177_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246071	NC_000006.11:g.(?_129723479)_(129725469_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246070	NC_000006.11:g.(?_129380909)_(129796566_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246069	NC_000006.11:g.(?_129371043)_(129670549_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246068	NC_000006.11:g.(?_129581836)_(129641820_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246067	NC_000006.11:g.(?_129498831)_(129514018_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GLikely pathogenic
Select item 3246065	NC_000006.11:g.(?_129663478)_(129663622_?)dup	LAMA2	Duplication	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246064	NC_000006.11:g.(?_129823784)_(129837492_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246063	NC_000006.11:g.(?_129813026)_(129824445_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246062	NC_000006.11:g.(?_129813026)_(129813648_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246061	NC_000006.11:g.(?_129794339)_(129837492_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246060	NC_000006.11:g.(?_129777460)_(129837492_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246059	NC_000006.11:g.(?_129649403)_(129663647_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246058	NC_000006.11:g.(?_129633986)_(129637336_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246057	NC_000006.11:g.(?_129371043)_(129470261_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246056	NC_000006.11:g.(?_129371043)_(129419580_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246054	NC_000006.11:g.(?_129371043)_(129514018_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246053	NC_000006.11:g.(?_129465026)_(129465245_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246052	NC_000006.11:g.(?_129663468)_(129663647_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GPathogenic
Select item 3246051	NC_000006.11:g.(?_129513805)_(129514018_?)del	LAMA2	Deletion	LAMA2-related muscular dystrophy	GUncertain significance
Select item 3241815	NM_000426.4(LAMA2):c.8500dup (p.Thr2834fs)	LAMA2 (T2830fs +1 more)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241814	NM_000426.4(LAMA2):c.2641del (p.Ser881fs)	LAMA2 (S881fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241813	NM_000426.4(LAMA2):c.8703+1del	LAMA2	Deletion (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241811	NM_000426.4(LAMA2):c.4137dup (p.Cys1380fs)	LAMA2 (C1380fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241810	NM_000426.4(LAMA2):c.3039_3040del (p.Ala1013_Cys1014insTer)	LAMA2	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241809	NM_000426.4(LAMA2):c.2502del (p.Cys835fs)	LAMA2 (C835fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241808	NM_000426.4(LAMA2):c.4692dup (p.Ala1565fs)	LAMA2 (A1565fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241807	NM_000426.4(LAMA2):c.2609del (p.Asn870fs)	LAMA2 (N870fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241806	NM_000426.4(LAMA2):c.5337C>G (p.Tyr1779Ter)	LAMA2 (Y1779*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241805	NM_000426.4(LAMA2):c.1027+2T>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241804	NM_000426.4(LAMA2):c.1783-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241802	NM_000426.4(LAMA2):c.6145A>T (p.Lys2049Ter)	LAMA2, LOC123864065 (K2049*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241801	NM_000426.4(LAMA2):c.5259dup (p.Val1754fs)	LAMA2 (V1754fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241800	NM_000426.4(LAMA2):c.4960-1G>C	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3239674	NM_000426.4(LAMA2):c.8049C>A (p.Cys2683Ter)	LAMA2 (C2679* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GLikely pathogenic
Select item 3065732	NM_000426.4(LAMA2):c.5524G>A (p.Ala1842Thr)	LAMA2 (A1842T)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 3065029	NM_000426.4(LAMA2):c.112G>A (p.Gly38Ser)	LAMA2 (G38S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 3015517	NM_000426.4(LAMA2):c.6240T>C (p.Asn2080=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3004009	NM_000426.4(LAMA2):c.6268+12T>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2978588	NM_000426.4(LAMA2):c.6154C>T (p.Leu2052=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2974330	NM_000426.4(LAMA2):c.6268+18A>G	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2955182	NM_000426.4(LAMA2):c.6127C>T (p.Gln2043Ter)	LAMA2, LOC123864065 (Q2043*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy	GPathogenic
Select item 2902213	NM_000426.4(LAMA2):c.6086-20A>G	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2875871	NM_000426.4(LAMA2):c.8357+15G>C	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2839071	NM_000426.4(LAMA2):c.8245-5T>G	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2821939	NM_000426.4(LAMA2):c.6268+20T>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2813011	NM_000426.4(LAMA2):c.8274T>C (p.Ala2758=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2810690	NM_000426.4(LAMA2):c.6233_6236dup (p.Ala2081fs)	LAMA2, LOC123864065 (A2081fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 2760305	NM_000426.4(LAMA2):c.6268+12T>G	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2755339	NM_000426.4(LAMA2):c.6228C>G (p.Val2076=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2733128	NM_000426.4(LAMA2):c.8357+8T>G	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2732853	NM_000426.4(LAMA2):c.6268+19T>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2710569	NM_000426.4(LAMA2):c.8325A>C (p.Ala2775=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2694008	NM_000426.4(LAMA2):c.6086-7C>A	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2689356	NM_000426.4(LAMA2):c.3727G>A (p.Gly1243Arg)	LAMA2 (G1243R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689355	NM_000426.4(LAMA2):c.5564A>T (p.Tyr1855Phe)	LAMA2 (Y1855F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689354	NM_000426.4(LAMA2):c.8746G>A (p.Ala2916Thr)	LAMA2 (A2912T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689353	NM_000426.4(LAMA2):c.415G>T (p.Val139Leu)	LAMA2 (V139L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689352	NM_000426.4(LAMA2):c.4777G>A (p.Val1593Ile)	LAMA2 (V1593I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689351	NM_000426.4(LAMA2):c.3533C>T (p.Ala1178Val)	LAMA2 (A1178V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689350	NM_000426.4(LAMA2):c.3730A>G (p.Lys1244Glu)	LAMA2 (K1244E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689349	NM_000426.4(LAMA2):c.9146A>G (p.Gln3049Arg)	LAMA2 (Q3045R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689348	NM_000426.4(LAMA2):c.1885-5T>G	LAMA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689347	NM_000426.4(LAMA2):c.7469A>C (p.Lys2490Thr)	LAMA2 (K2486T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689346	NM_000426.4(LAMA2):c.5552C>A (p.Ser1851Tyr)	LAMA2 (S1851Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689345	NM_000426.4(LAMA2):c.4817A>G (p.Tyr1606Cys)	LAMA2 (Y1606C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689344	NM_000426.4(LAMA2):c.1696C>A (p.Gln566Lys)	LAMA2 (Q566K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684257	NM_000426.4(LAMA2):c.2239G>T (p.Gly747Cys)	LAMA2 (G747C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682954	NM_000426.4(LAMA2):c.8276T>C (p.Leu2759Pro)	LAMA2, LOC126859784 (L2755P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2676276	NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)	LAMA2 (M2690fs +1 more)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676275	NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)	LAMA2 (D547fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676274	NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)	LAMA2 (D2982fs +1 more)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676273	NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)	LAMA2 (N1781fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676272	NM_000426.4(LAMA2):c.112+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676271	NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)	LAMA2 (E2991* +1 more)	Microsatellite (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676270	NM_000426.4(LAMA2):c.1307-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2676269	NM_000426.4(LAMA2):c.987del (p.Trp330fs)	LAMA2 (W330fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676268	NM_000426.4(LAMA2):c.2788del (p.Cys930fs)	LAMA2 (C930fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676267	NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)	LAMA2 (G6fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676266	NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)	LAMA2 (S925fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676265	NM_000426.4(LAMA2):c.2723del (p.Asp908fs)	LAMA2 (D908fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676263	NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)	LAMA2 (W2843* +1 more)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676262	NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)	LAMA2 (E1630fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2676261	NM_000426.4(LAMA2):c.7899-1G>C	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676260	NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)	LOC123864065, LAMA2 (Q2035*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676259	NM_000426.4(LAMA2):c.183del (p.Gly62fs)	LAMA2 (G62fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676258	NM_000426.4(LAMA2):c.2856+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676257	NM_000426.4(LAMA2):c.4861del (p.His1621fs)	LAMA2 (H1621fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2676256	NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)	LAMA2 (F397fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676255	NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)	LAMA2 (L2561fs +1 more)	Insertion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676254	NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)	LAMA2 (R1366fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676253	NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)	LAMA2 (G935*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676252	NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)	LAMA2 (W2208*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676251	NM_000426.4(LAMA2):c.2537+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic

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