ClinVar for Gene (Select 3908) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339149	NM_000426.4(LAMA2):c.35T>G (p.Leu12Arg)	LAMA2 (L12R)	Single nucleotide variant (missense variant)	not specified	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 3337245	NM_000426.4(LAMA2):c.7210C>G (p.Leu2404Val)	LAMA2 (L2404V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336620	NM_000426.4(LAMA2):c.4399C>T (p.Gln1467Ter)	LAMA2 (Q1467*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 3336614	NM_000426.4(LAMA2):c.7573-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 3289882	NM_000426.4(LAMA2):c.2344G>A (p.Gly782Ser)	LAMA2 (G782S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289880	NM_000426.4(LAMA2):c.3517A>C (p.Thr1173Pro)	LAMA2 (T1173P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289879	NM_000426.4(LAMA2):c.7737G>C (p.Arg2579Ser)	LAMA2 (R2575S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289878	NM_000426.4(LAMA2):c.8736T>G (p.Asn2912Lys)	LAMA2 (N2908K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289877	NM_000426.4(LAMA2):c.5845G>C (p.Ala1949Pro)	LAMA2 (A1949P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289876	NM_000426.4(LAMA2):c.3691G>A (p.Glu1231Lys)	LAMA2 (E1231K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289875	NM_000426.4(LAMA2):c.4229C>T (p.Pro1410Leu)	LAMA2 (P1410L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289874	NM_000426.4(LAMA2):c.7678T>A (p.Ser2560Thr)	LAMA2 (S2560T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289872	NM_000426.4(LAMA2):c.9060G>C (p.Leu3020Phe)	LAMA2 (L3016F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289871	NM_000426.4(LAMA2):c.8074G>A (p.Val2692Ile)	LAMA2 (V2688I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289869	NM_000426.4(LAMA2):c.937A>G (p.Thr313Ala)	LAMA2 (T313A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289868	NM_000426.4(LAMA2):c.388T>A (p.Leu130Ile)	LAMA2 (L130I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289867	NM_000426.4(LAMA2):c.8113G>T (p.Ala2705Ser)	LAMA2 (A2705S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254680	NM_000426.4(LAMA2):c.2270G>C (p.Cys757Ser)	LAMA2 (C757S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 3251967	NM_000426.4(LAMA2):c.326G>A (p.Trp109Ter)	LAMA2 (W109*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3251721	NM_000426.4(LAMA2):c.442C>G (p.Arg148Gly)	LAMA2 (R148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251475	NM_000426.4(LAMA2):c.8857+5G>A	LAMA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3251299	NM_000426.4(LAMA2):c.258C>A (p.Cys86Ter)	LAMA2 (C86*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy	GPathogenic
Select item 3250469	NM_000426.4(LAMA2):c.5838del (p.Asp1947fs)	LAMA2 (D1947fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
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 3242155	NM_000426.4(LAMA2):c.3924+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GLikely pathogenic
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 3234980	NM_000426.4(LAMA2):c.8569C>T (p.Gln2857Ter)	LAMA2 (Q2853* +1 more)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3234953	NM_000426.4(LAMA2):c.781A>G (p.Lys261Glu)	LAMA2 (K261E)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 3233936	NM_000426.4(LAMA2):c.2986T>G (p.Cys996Gly)	LAMA2 (C996G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233547	NM_000426.4(LAMA2):c.7888C>A (p.Arg2630=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3117417	NM_000426.4(LAMA2):c.9116T>C (p.Leu3039Pro)	LAMA2 (L3039P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117415	NM_000426.4(LAMA2):c.854G>T (p.Gly285Val)	LAMA2 (G285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117414	NM_000426.4(LAMA2):c.8390C>A (p.Ala2797Asp)	LAMA2 (A2797D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117413	NM_000426.4(LAMA2):c.7085C>A (p.Ser2362Tyr)	LAMA2 (S2362Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117412	NM_000426.4(LAMA2):c.6880G>A (p.Val2294Ile)	LAMA2 (V2294I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117411	NM_000426.4(LAMA2):c.686C>T (p.Ser229Phe)	LAMA2 (S229F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117410	NM_000426.4(LAMA2):c.6847G>T (p.Gly2283Cys)	LAMA2 (G2283C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117409	NM_000426.4(LAMA2):c.6778C>T (p.His2260Tyr)	LAMA2 (H2260Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3117408	NM_000426.4(LAMA2):c.5870C>T (p.Thr1957Ile)	LAMA2 (T1957I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117405	NM_000426.4(LAMA2):c.1762G>A (p.Ala588Thr)	LAMA2 (A588T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067713	NM_000426.4(LAMA2):c.113-1G>T	LAMA2	Single nucleotide variant (splice acceptor variant)	not provided	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 3063939	NM_000426.4(LAMA2):c.8614A>G (p.Ser2872Gly)	LAMA2 (S2868G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063844	NM_000426.4(LAMA2):c.7749+6C>T	LAMA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061609	NM_000426.4(LAMA2):c.6597G>A (p.Met2199Ile)	LAMA2 (M2199I)	Single nucleotide variant (missense variant)	LAMA2-related disorder	GUncertain significance
Select item 3048306	NM_000426.4(LAMA2):c.2857-47G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 3047752	NM_000426.4(LAMA2):c.5235-28T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 3046875	NM_000426.4(LAMA2):c.3168T>C (p.Gly1056=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder	GLikely benign
Select item 3036374	NM_000426.4(LAMA2):c.2857-48C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 3030116	NM_000426.4(LAMA2):c.4689G>A (p.Trp1563Ter)	LAMA2 (W1563*)	Single nucleotide variant (nonsense)	LAMA2-related disorder	GLikely pathogenic
Select item 3027217	NM_000426.4(LAMA2):c.2918_2936del (p.Gly973fs)	LAMA2 (G973fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3026777	NM_000426.4(LAMA2):c.6757_6774del (p.Ala2253_Ser2258del)	LAMA2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 3023545	NM_000426.4(LAMA2):c.2889C>T (p.Gly963=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3022710	NM_000426.4(LAMA2):c.283+13G>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3021863	NM_000426.4(LAMA2):c.3693A>G (p.Glu1231=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3021326	NM_000426.4(LAMA2):c.1885-15T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020730	NM_000426.4(LAMA2):c.1203A>G (p.Lys401=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020473	NM_000426.4(LAMA2):c.8076-12A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3020265	NM_000426.4(LAMA2):c.113-13C>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3019741	NM_000426.4(LAMA2):c.30T>C (p.Leu10=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 3019711	NM_000426.4(LAMA2):c.664_665insAC (p.Arg222fs)	LAMA2 (R222fs)	Insertion (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 3019522	NM_000426.4(LAMA2):c.222T>C (p.Pro74=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign

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