ClinVar for MedGen (Select 224728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 2676250	NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)	LAMA2, LOC126859784 (A2749fs +1 more)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2676249	NM_000426.4(LAMA2):c.1782_1782+1delinsT	LAMA2	Indel (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676248	NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)	LAMA2 (Q1440fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676247	NM_000426.4(LAMA2):c.283+2T>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676246	NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)	LAMA2 (Q508*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2676245	NM_000426.4(LAMA2):c.2323-2A>T	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 2676244	NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)	LAMA2 (Q1626fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676243	NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)	LAMA2	Microsatellite (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676242	NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)	LAMA2 (L561fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676241	NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)	LAMA2 (A2872fs +1 more)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676240	NM_000426.4(LAMA2):c.8849_8857+1del	LAMA2	Deletion (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676239	NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)	LAMA2 (C1429fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676238	NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)	LAMA2 (D1328fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676237	NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)	LAMA2 (K3070fs +1 more)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676236	NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)	LAMA2 (S659*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2676235	NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)	LAMA2 (E658fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676234	NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)	LAMA2 (G374fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676233	NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)	LAMA2 (W2316*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676232	NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)	LAMA2	Microsatellite (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676231	NM_000426.4(LAMA2):c.113-2A>C	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676230	NM_000426.4(LAMA2):c.7301-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +1 more	GLikely pathogenic
Select item 2676229	NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)	LAMA2 (E2335fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676228	NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)	LAMA2 (M2981fs +1 more)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676227	NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)	LAMA2 (C930*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676226	NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)	LAMA2 (F2925fs +1 more)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676225	NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)	LAMA2 (Y839fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676224	NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)	LAMA2 (C287*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2674609	NM_000426.4(LAMA2):c.640-6127A>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 2584804	NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)	LAMA2	Microsatellite (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic
Select item 2506370	NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)	LAMA2 (S1483fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2504076	NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer)	LAMA2	Duplication (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2500758	NM_000426.4(LAMA2):c.1207-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2500757	NM_000426.4(LAMA2):c.442del (p.Arg148fs)	LAMA2 (R148fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2231337	NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)	LAMA2	Deletion (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2167228	NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)	LAMA2 (P1625L)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 2128801	NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)	LAMA2, LOC123864065 (D2050fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2052455	NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)	LAMA2 (Y583*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1986543	NM_000426.4(LAMA2):c.3735+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1977748	NM_000426.4(LAMA2):c.5563-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +1 more	GLikely pathogenic
Select item 1878911	NM_000426.4(LAMA2):c.7749+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 1807350	NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)	LAMA2 (E795*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1726885	NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)	LAMA2 (W512fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726862	NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)	LAMA2 (W543*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726793	NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)	LAMA2 (K2655fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726748	NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)	LAMA2 (F926fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726646	NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)	LAMA2 (G2187fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726627	NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)	LOC123864065, LAMA2 (K2049fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726607	NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)	LAMA2 (K1946*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726602	NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)	LAMA2, LOC123864065 (V2083fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726565	NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)	LAMA2 (S2406fs)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726549	NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)	LAMA2 (K1607fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726540	NM_000426.4(LAMA2):c.389del (p.Leu130fs)	LAMA2 (L130fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726484	NM_000426.4(LAMA2):c.1365del (p.Cys456fs)	LAMA2 (C456fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726400	NM_000426.4(LAMA2):c.2916del (p.Phe972fs)	LAMA2 (F972fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more	GPathogenic/Likely pathogenic
Select item 1726385	NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)	LAMA2 (R96*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726347	NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)	LAMA2 (K2493* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726328	NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)	LAMA2, LOC123864065 (K2078*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726325	NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)	LAMA2 (T2732fs +1 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726246	NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)	LAMA2 (S521fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726218	NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)	LAMA2 (N2587fs +1 more)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726193	NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)	LAMA2 (E1432*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726184	NM_000426.4(LAMA2):c.2348del (p.Pro783fs)	LAMA2 (P783fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726147	NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)	LAMA2 (S1390fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726131	NM_000426.4(LAMA2):c.2233dup (p.Val745fs)	LAMA2 (V745fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726130	NM_000426.4(LAMA2):c.2166dup (p.Val723fs)	LAMA2 (V723fs)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726127	NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)	LAMA2 (N2864fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726121	NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)	LAMA2 (G2215*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726056	NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)	LAMA2 (E1502*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726053	NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)	LAMA2 (L2376fs)	Insertion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1726031	NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)	LAMA2 (E1141fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725998	NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)	LAMA2 (T2524fs +1 more)	Microsatellite (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725993	NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)	LAMA2 (A2381fs)	Indel (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic
Select item 1725954	NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)	LAMA2 (G841*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more	GLikely pathogenic

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