C1263858[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1431679	NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)	LAMA2 (S146Y)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 162573	NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	LAMA2 (S146F)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 477487	NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)	LAMA2 (N181S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 452206	NM_000426.4(LAMA2):c.917G>A (p.Arg306His)	LAMA2 (R306H)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 450302	NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)	LAMA2 (D316N)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 355248	NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)	LAMA2 (R458K)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GConflicting classifications of pathogenicity
Select item 447680	NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)	LAMA2 (K467R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 641857	NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)	LAMA2 (R499C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 800887	NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	LAMA2 (D631fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GPathogenic/Likely pathogenic
Select item 38340	NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	LAMA2 (R683fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 435712	NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)	LAMA2 (W739C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 447683	NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)	LAMA2 (R826Q)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 573318	NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)	LAMA2 (G838R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GUncertain significance
Select item 477455	NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	LAMA2 (F852fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 373189	NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)	LAMA2 (H1082Y)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 162576	NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)	LAMA2 (A1178T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 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 92956	NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	LAMA2 (R1326*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 620506	NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter)	LAMA2 (Y1334*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic
Select item 477467	NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)	LAMA2 (H1337R)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 284984	NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)	LAMA2 (R1350*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 449238	NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)	LAMA2 (D1491N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 196660	NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	LAMA2 (A1496V)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +5 more	GConflicting classifications of pathogenicity
Select item 649508	NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys)	LAMA2 (E1684K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 355276	NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln)	LAMA2 (E1727Q)	Single nucleotide variant (missense variant)	Polymicrogyria +5 more	GUncertain significance
Select item 551387	NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)	LAMA2 (L1776fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 197478	NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	LAMA2, LOC123864065 (Q2054R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 284415	NM_000426.4(LAMA2):c.6268+5G>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +6 more	GUncertain significance
Select item 92976	NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)	LAMA2 (R2108W)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 92978	NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)	LAMA2 (S2188N)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 355293	NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)	LAMA2 (M2278V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 435714	NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)	LAMA2 (T2363I)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GConflicting classifications of pathogenicity
Select item 906088	NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)	LAMA2 (V2411I)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 162578	NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)	LAMA2 (H2417R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 547886	NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu)	LAMA2 (A2464L)	Indel (missense variant)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 435715	NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)	LAMA2 (G2472V)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 265427	NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)	LAMA2 (G2660fs +1 more)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic
Select item 447695	NM_000426.4(LAMA2):c.8244+3_8244+6del	LAMA2	Deletion (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 851137	NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)	LAMA2 (A3001V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GConflicting classifications of pathogenicity
Select item 162582	NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)	LAMA2 (Q3049E +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 162583	NM_000426.4(LAMA2):c.9211+6T>C	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +6 more	GConflicting classifications of pathogenicity

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Items: 41