"LAMA2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381265	NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)	LAMA2 (P25L)	Single nucleotide variant (missense variant)	LAMA2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 355239	NM_000426.4(LAMA2):c.98C>A (p.Ala33Glu)	LAMA2 (A33E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 387018	NM_000426.4(LAMA2):c.408C>T (p.Ile136=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +2 more	GLikely benign
Select item 1160167	NM_000426.4(LAMA2):c.879C>T (p.Ala293=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 2632433	NM_000426.4(LAMA2):c.1139A>G (p.Asn380Ser)	LAMA2 (N380S)	Single nucleotide variant (missense variant)	LAMA2-related disorder	GUncertain significance
Select item 703350	NM_000426.4(LAMA2):c.1207-10T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder +1 more	GLikely benign
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 92939	NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)	LAMA2 (S541G)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 92940	NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)	LAMA2 (L545Q)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 193992	NM_000426.4(LAMA2):c.1782+10C>T	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 380542	NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)	LAMA2 (T605I)	Single nucleotide variant (missense variant)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1139950	NM_000426.4(LAMA2):c.2001T>C (p.Phe667=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 706897	NM_000426.4(LAMA2):c.2121C>T (p.Ser707=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +2 more	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 3048306	NM_000426.4(LAMA2):c.2857-47G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder	GLikely benign
Select item 705893	NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)	LAMA2 (G1002S)	Single nucleotide variant (missense variant)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 290869	NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)	LAMA2 (N1005S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 451960	NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)	LAMA2 (S1052G)	Single nucleotide variant (missense variant)	LAMA2-related disorder +2 more	GConflicting classifications of pathogenicity
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 1223572	NM_000426.4(LAMA2):c.3175-25G>A	LAMA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 702254	NM_000426.4(LAMA2):c.3213A>G (p.Gln1071=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GBenign/Likely benign
Select item 211352	NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1578027	NM_000426.4(LAMA2):c.3429C>T (p.Ile1143=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 162576	NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)	LAMA2 (A1178T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1684516	NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu)	LAMA2 (P1373L)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GUncertain significance
Select item 1630867	NM_000426.4(LAMA2):c.4164C>T (p.Gly1388=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 389231	NM_000426.4(LAMA2):c.4176+9C>T	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 426986	NM_000426.4(LAMA2):c.4349G>A (p.Arg1450Gln)	LAMA2 (R1450Q)	Single nucleotide variant (missense variant)	LAMA2-related disorder +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 964923	NM_000426.4(LAMA2):c.4495C>T (p.Arg1499Trp)	LAMA2 (R1499W)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
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 1543868	NM_000426.4(LAMA2):c.4734C>T (p.Cys1578=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 196881	NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355272	NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 506640	NM_000426.4(LAMA2):c.4960-16G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 779490	NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211353	NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)	LAMA2 (R1674K)	Single nucleotide variant (missense 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)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 772808	NM_000426.4(LAMA2):c.5140T>C (p.Leu1714=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +2 more	GBenign/Likely 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 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 477490	NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)	LAMA2 (D1837N)	Single nucleotide variant (missense variant)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 374557	NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)	LAMA2 (R1844C)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 355280	NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)	LAMA2 (I1853R)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 235524	NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser)	LAMA2 (C1970S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 497348	NM_000426.4(LAMA2):c.5969-4G>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +2 more	GBenign/Likely benign
Select item 197453	NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)	LAMA2 (R2001K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 355285	NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys)	LAMA2, LOC123864065 (Y2069C)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 284415	NM_000426.4(LAMA2):c.6268+5G>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 477499	NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 543855	NM_000426.4(LAMA2):c.6323G>A (p.Arg2108Gln)	LAMA2 (R2108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 435709	NM_000426.4(LAMA2):c.6429+8C>A	LAMA2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 355288	NM_000426.4(LAMA2):c.6429+10T>G	LAMA2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1147228	NM_000426.4(LAMA2):c.6531T>A (p.Ala2177=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 129441	NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)	LAMA2 (D2180V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2631968	NM_000426.4(LAMA2):c.6563G>C (p.Ser2188Thr)	LAMA2 (S2188T)	Single nucleotide variant (missense variant)	LAMA2-related disorder	GUncertain significance
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 197558	NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)	LAMA2 (V2210A)	Single nucleotide variant (missense variant)	LAMA2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1580050	NM_000426.4(LAMA2):c.6708-13C>T	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 423685	NM_000426.4(LAMA2):c.6708-3A>C	LAMA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1578480	NM_000426.4(LAMA2):c.6870G>A (p.Lys2290=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 703512	NM_000426.4(LAMA2):c.6927C>T (p.Asp2309=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 546142	NM_000426.4(LAMA2):c.6992+5G>A	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 435714	NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)	LAMA2 (T2363I)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 92981	NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)	LAMA2 (F2371V)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 197921	NM_000426.4(LAMA2):c.7300+10T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 355297	NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=)	LAMA2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 355298	NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu)	LAMA2 (G2547E +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 705005	NM_000426.4(LAMA2):c.7659A>G (p.Ser2553=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 14296	NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	LAMA2 (R2578* +1 more)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +6 more	GPathogenic
Select item 543879	NM_000426.4(LAMA2):c.7772A>G (p.Asn2591Ser)	LAMA2 (N2591S +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 772229	NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)	LAMA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1684517	NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)	LAMA2 (L2656I +1 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 702446	NM_000426.4(LAMA2):c.7983C>T (p.Phe2661=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 242607	NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)	LAMA2, LOC126859784 (I2761T +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 760430	NM_000426.4(LAMA2):c.8385C>T (p.Thr2795=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 702011	NM_000426.4(LAMA2):c.8610C>T (p.Thr2870=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related disorder +1 more	GLikely benign
Select item 355304	NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)	LAMA2 (V2910I +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 167249	NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)	LAMA2 (P2915S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 477521	NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn)	LAMA2 (D2921N +1 more)	Single nucleotide variant (missense variant)	LAMA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1665205	NM_000426.4(LAMA2):c.9318C>G (p.Ala3106=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +1 more	GLikely benign
Select item 1032351	NM_000426.4(LAMA2):c.9367_*1dup (p.Ter3123=)	LAMA2	Duplication (no sequence alteration)	LAMA2-related muscular dystrophy +1 more	GLikely benign

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Items: 82