ClinVar for MedGen (Select 335826) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802537	NM_000426.4(LAMA2):c.[2522G>A;2932G>A]	LAMA2 (D978N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GUncertain significance
Select item 908031	NM_000426.4(LAMA2):c.5461G>A (p.Val1821Ile)	LAMA2 (V1821I)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 908030	NM_000426.4(LAMA2):c.5380A>G (p.Thr1794Ala)	LAMA2 (T1794A)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 907948	NM_000426.4(LAMA2):c.4258T>C (p.Cys1420Arg)	LAMA2 (C1420R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 907947	NM_000426.4(LAMA2):c.4235C>A (p.Pro1412Gln)	LAMA2 (P1412Q)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 907884	NM_000426.4(LAMA2):c.2710G>A (p.Gly904Arg)	LAMA2 (G904R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 907883	NM_000426.4(LAMA2):c.2545G>A (p.Glu849Lys)	LAMA2 (E849K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 907819	NM_000426.4(LAMA2):c.1615G>C (p.Asp539His)	LAMA2 (D539H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 907772	NM_000426.4(LAMA2):c.396+3A>G	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 907162	NM_000426.4(LAMA2):c.8760C>T (p.Ala2920=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 907039	NM_000426.4(LAMA2):c.6269-12A>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 906896	NM_000426.4(LAMA2):c.2527C>A (p.Arg843Ser)	LAMA2 (R843S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 906895	NM_000426.4(LAMA2):c.2358T>A (p.Asp786Glu)	LAMA2 (D786E)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 906829	NM_000426.4(LAMA2):c.1319G>A (p.Gly440Glu)	LAMA2 (G440E)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GUncertain significance
Select item 906785	NM_000426.4(LAMA2):c.62A>G (p.Gln21Arg)	LAMA2 (Q21R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 906159	NM_000426.4(LAMA2):c.8547+14G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 906158	NM_000426.4(LAMA2):c.8443A>G (p.Thr2815Ala)	LAMA2 (T2815A +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 906157	NM_000426.4(LAMA2):c.8419C>G (p.Arg2807Gly)	LAMA2 (R2803G +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 906156	NM_000426.4(LAMA2):c.8357+4T>A	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 906088	NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)	LAMA2 (V2411I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 906087	NM_000426.4(LAMA2):c.7186G>A (p.Gly2396Arg)	LAMA2 (G2396R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 906021	NM_000426.4(LAMA2):c.6183C>A (p.Asn2061Lys)	LAMA2, LOC123864065 (N2061K)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 905952	NM_000426.4(LAMA2):c.5288G>A (p.Gly1763Glu)	LAMA2 (G1763E)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905951	NM_000426.4(LAMA2):c.4995A>C (p.Gly1665=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905713	NM_000426.4(LAMA2):c.9223C>A (p.Gln3075Lys)	LAMA2 (Q3075K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905712	NM_000426.4(LAMA2):c.9171A>C (p.Ser3057=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 905711	NM_000426.4(LAMA2):c.9107G>A (p.Arg3036His)	LAMA2 (R3032H +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 905646	NM_000426.4(LAMA2):c.8205C>T (p.Pro2735=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 905645	NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala)	LAMA2 (V2658A +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 905582	NM_000426.4(LAMA2):c.7148G>A (p.Arg2383Gln)	LAMA2 (R2383Q)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 905512	NM_000426.4(LAMA2):c.6006A>G (p.Ile2002Met)	LAMA2 (I2002M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 905511	NM_000426.4(LAMA2):c.5833G>C (p.Ala1945Pro)	LAMA2 (A1945P)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 905510	NM_000426.4(LAMA2):c.5722G>A (p.Asp1908Asn)	LAMA2 (D1908N)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905363	NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)	LAMA2 (G1170S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 905362	NM_000426.4(LAMA2):c.3338C>T (p.Thr1113Ile)	LAMA2 (T1113I)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905361	NM_000426.4(LAMA2):c.3333T>A (p.Pro1111=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 905294	NM_000426.4(LAMA2):c.2036C>G (p.Ala679Gly)	LAMA2 (A679G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 904791	NM_000426.4(LAMA2):c.6691C>A (p.Arg2231Ser)	LAMA2 (R2231S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 904790	NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys)	LAMA2 (S2212C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 904789	NM_000426.4(LAMA2):c.6598C>T (p.Arg2200Cys)	LAMA2 (R2200C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 904723	NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 904722	NM_000426.4(LAMA2):c.5536G>A (p.Ala1846Thr)	LAMA2 (A1846T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 904644	NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg)	LAMA2 (P1531R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 904575	NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser)	LAMA2 (L1068S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 904505	NM_000426.4(LAMA2):c.1757C>T (p.Ala586Val)	LAMA2 (A586V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 904504	NM_000426.4(LAMA2):c.1652G>A (p.Arg551His)	LAMA2 (R551H)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 904444	NM_000426.4(LAMA2):c.718T>C (p.Tyr240His)	LAMA2 (Y240H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 904443	NM_000426.4(LAMA2):c.519C>T (p.Asp173=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 903808	NM_000426.4(LAMA2):c.9073T>C (p.Trp3025Arg)	LAMA2 (W3021R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 903807	NM_000426.4(LAMA2):c.9007A>G (p.Asn3003Asp)	LAMA2 (N3003D +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 903728	NM_000426.4(LAMA2):c.7898+12A>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 790990	NM_000426.4(LAMA2):c.7153C>T (p.Leu2385=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 772522	NM_000426.4(LAMA2):c.4772A>G (p.Gln1591Arg)	LAMA2 (Q1591R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 772229	NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 771671	NM_000426.4(LAMA2):c.4436+8T>C	LAMA2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 706113	NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 705893	NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)	LAMA2 (G1002S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 705544	NM_000426.4(LAMA2):c.2427T>C (p.Cys809=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 705381	NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 703965	NM_000426.4(LAMA2):c.8684C>G (p.Thr2895Ser)	LAMA2 (T2891S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 703096	NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)	LAMA2 (Y1386F)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 665945	NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser)	LAMA2 (G2561S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GUncertain significance
Select item 663345	NM_000426.4(LAMA2):c.4675G>A (p.Gly1559Ser)	LAMA2 (G1559S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 661836	NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His)	LAMA2 (R2295H)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 656307	NM_000426.4(LAMA2):c.831G>A (p.Ser277=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 642958	NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)	LAMA2 (A137T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 641637	NM_000426.4(LAMA2):c.716G>A (p.Arg239His)	LAMA2 (R239H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 634434	NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)	LAMA2, LOC123864065 (S2087Y)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GUncertain significance
Select item 632471	NM_000426.4(LAMA2):c.6820del (p.Asp2274fs)	LAMA2 (D2274fs)	Deletion (frameshift variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 631972	NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)	LAMA2 (E1764fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 631971	NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)	LAMA2 (R362*)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 631970	NM_000426.4(LAMA2):c.463G>T (p.Glu155Ter)	LAMA2 (E155*)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 593685	NM_000426.4(LAMA2):c.4620C>A (p.Asp1540Glu)	LAMA2 (D1540E)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GUncertain significance
Select item 585149	NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)	LAMA2 (E1720Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 570185	NM_000426.4(LAMA2):c.6692G>A (p.Arg2231His)	LAMA2 (R2231H)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 566814	NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)	LAMA2 (R2969C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 548542	NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln)	LAMA2 (E1815Q)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GUncertain significance
Select item 543880	NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 543855	NM_000426.4(LAMA2):c.6323G>A (p.Arg2108Gln)	LAMA2 (R2108Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 543850	NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp)	LAMA2 (E2796D +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 523054	NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His)	LAMA2 (L2509H +1 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 513185	NM_000426.4(LAMA2):c.9212-11G>A	LAMA2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 477523	NM_000426.4(LAMA2):c.8890G>T (p.Val2964Leu)	LAMA2 (V2964L +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 477509	NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 477499	NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 477480	NM_000426.4(LAMA2):c.5072-10C>A	LAMA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 477478	NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys)	LAMA2 (E1637K)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 477467	NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)	LAMA2 (H1337R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 477465	NM_000426.4(LAMA2):c.3925-6T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 477452	NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val)	LAMA2 (A763V)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 477444	NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)	LAMA2	Single nucleotide variant (synonymous variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 477443	NM_000426.4(LAMA2):c.1562C>T (p.Ser521Leu)	LAMA2 (S521L)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GUncertain significance
Select item 477440	NM_000426.4(LAMA2):c.1467+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451649	NM_000426.4(LAMA2):c.2932G>A (p.Asp978Asn)	LAMA2 (D978N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 450302	NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)	LAMA2 (D316N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 447693	NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)	LAMA2 (P2671T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 447689	NM_000426.4(LAMA2):c.5689G>A (p.Ala1897Thr)	LAMA2 (A1897T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 447685	NM_000426.4(LAMA2):c.3924+2T>C	LAMA2	Single nucleotide variant (splice donor variant)	Muscular dystrophy, congenital, merosin deficient or partially deficient +3 more	GPathogenic
Select item 447681	NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn)	LAMA2 (S529N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 445513	NM_000426.4(LAMA2):c.8988+15T>C	LAMA2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

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