C1842898[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92938	NM_000426.4(LAMA2):c.156C>T (p.Ile52=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GBenign
Select item 129436	NM_000426.4(LAMA2):c.255C>T (p.Ile85=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 92955	NM_000426.4(LAMA2):c.381C>A (p.Thr127=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 235618	NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)	LAMA2 (E308K)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 211350	NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 129433	NM_000426.4(LAMA2):c.1491T>C (p.Cys497=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 129434	NM_000426.4(LAMA2):c.1533T>C (p.Asn511=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 92939	NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)	LAMA2 (S541G)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 92941	NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)	LAMA2 (G600R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 92943	NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)	LAMA2 (R619H)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GBenign
Select item 129435	NM_000426.4(LAMA2):c.1930C>G (p.His644Asp)	LAMA2 (H644D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 92945	NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 435712	NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)	LAMA2 (W739C)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 162584	NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)	LAMA2 (T821M)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 167241	NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)	LAMA2 (R826W)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 92948	NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu)	LAMA2 (R919L)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 92949	NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GBenign
Select item 129437	NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)	LAMA2 (N1099S)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +5 more	GBenign/Likely benign
Select item 92952	NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)	LAMA2 (V1138M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 129438	NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala)	LAMA2 (T1205A)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GBenign/Likely benign
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 196660	NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	LAMA2 (A1496V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 92962	NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)	LAMA2 (G1584S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GBenign/Likely benign
Select item 256072	NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)	LAMA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 92963	NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GBenign
Select item 92966	NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92967	NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92968	NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)	LAMA2 (R1844S)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 92969	NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)	LAMA2 (S1878F)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 167244	NM_000426.4(LAMA2):c.5688C>T (p.His1896=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 197478	NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	LAMA2, LOC123864065 (Q2054R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 129439	NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys)	LAMA2, LOC123864065 (T2056K)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 129440	NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 92975	NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=)	LAMA2, LOC123864065	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 284415	NM_000426.4(LAMA2):c.6268+5G>C	LOC123864065, LAMA2	Single nucleotide variant (intron variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 435713	NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer)	LAMA2	Deletion (nonsense)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 197921	NM_000426.4(LAMA2):c.7300+10T>A	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 435715	NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)	LAMA2 (G2472V)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 129442	NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)	LAMA2 (R2477S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 92987	NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92988	NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)	LAMA2	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GBenign
Select item 92989	NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala)	LAMA2 (T2632A)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GBenign
Select item 129443	NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GBenign
Select item 129444	NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GBenign
Select item 355301	NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 129445	NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)	LAMA2 (N2843S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +5 more	GBenign/Likely benign
Select item 92991	NM_000426.4(LAMA2):c.8548-10T>C	LAMA2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 129446	NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)	LAMA2	Single nucleotide variant (synonymous variant)	Merosin deficient congenital muscular dystrophy +4 more	GBenign
Select item 129447	NM_000426.4(LAMA2):c.9123C>T (p.Val3041=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GBenign/Likely benign
Select item 435710	NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln)	LAMA2 (R3085Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50